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  • Alcohol And Health Wikipedia
    Native American populations exhibit genetic differences in the alcohol-metabolizing enzymes alcohol dehydrogenase and ALDH , [70] [71] although evidence that these genetic factors are more prevalent in Native Americans than other ethnic groups has been a subject of debate. [72] [73] [74] According to one 2013 review of academic literature on the issue, there is a "substantial genetic component in Native Americans" and that "most Native Americans lack protective variants seen in other populations." [72] Many scientists have provided evidence of the genetic component of alcoholism by the biopsychosocial model of alcoholism, but the molecular genetics research currently has not found one specific gene that is responsible for the rates of alcoholism among Native Americans, implying the phenomenon may be due to an interplay of multiple genes and environmental factors. [75] [76] Research on alcoholism in family systems suggests that learned behavior augments genetic factors in increasing the probability that children of alcoholics will themselves have problems with alcohol. [77] Genetics and amount of consumption [ edit ] Having a particular genetic variant (A-allele of ADH1B rs1229984) is associated with non-drinking and lower alcohol consumption.
    ALDH2, AVPR1B, SLC29A1, GGT1, ADH1B, NCALD, PECR, PLGRKT, FSTL5, ANKS1B, PKNOX2, LHPP, SLC39A8, FTO, CSRNP3, IGSF22, AGBL4, C15orf32, RHBDL2, SERINC2, CCSER1, STX18-AS1, LINC02268, LINC01818, LINC02661, AOX3P, MREG, C16orf72, ARL15, NRXN1, ADH4, CTNNA2, ESRRG, GCKR, GRK5, KCNJ6, MICB, ADH1C, BRAP, MBNL2, SEMA3A, STAG3, KLF12, IGSF9B, PPP1R16B, FAM162A, UTP20, AOX3P-AOX2P, GSTM2, GSTM1
  • Testicular Germ Cell Tumor OMIM
    Available serum markers such as alphafetoprotein (104150) and human chorionic gonadotropin have allowed clinicians to make important and accurate treatment-related decisions. Testicular cancer is a model for multidisciplinary care, as surgical resection of postchemotherapy radiographically persistent disease can improve the cure rate. ... Exclusion Studies Murty et al. (1996) excluded 4 genes on chromosome 12q22 as candidates for familial testicular cancer: mast cell growth factor (184745), B-cell translocation gene-1 (109580), thymopoietin (188380), and neural precursor cell expressed, developmentally down-regulated-1 (600372). Animal Model In laboratory mice, testicular germ cell tumors (TGCTs) arise from primordial germ cells (PGC) in only the inbred 129 strain, and susceptibility is under multigenic control (Stevens and Hummel, 1957). ... Youngren et al. (2005) stated that Dnd1 was the first protein known to have an RNA recognition motif directly implicated as a heritable cause of spontaneous tumorigenesis, and they suggested that TGCT development in the 129-Ter mouse strain models pediatric TGCTs in humans. Collin et al. (1996), in a genome scan of tumor-bearing progeny from backcrosses between the 129/Sv-Ter/+ and MOLF/Ei strains provided modest evidence that MOLF-derived alleles on mouse chromosome 19 enhance development of bilateral TGCTs.
    PTEN, IGHV1-12
    • Non-Seminomatous Germ Cell Tumor Of Testis Orphanet
      Testicular non seminomatous germ cell tumor describes a group of testicular germ cell tumors (see this term) occurring in the third decade of life (mean age: 25 years) with a usually painless unilateral mass in the scrotum or in some cases with gynaecomastia and/or back and flack pain and characterized by a more aggressive clinical course than testicular seminomatous germ cell tumors (see this term) with rapid involvement of blood vessels and a poorer prognosis. Histologically, they can be either undifferentiated (embryonal carcinoma), differentiated (teratoma, yolk sac tumor, choriocarcinoma), or can consist of a mixture of seminomatous and nonseminomatous components.
    • Testicular Teratoma Orphanet
      A rare neoplastic disease characterized by the presence of a testicular tumor composed of several, well-differentiated or immature, tissues derived from one or more of the 3 germinal layers. Patients typically present unilateral (occasionally bilateral) painless testicular swelling or a palpable testicular nodule/mass.
  • Postural Orthostatic Tachycardia Syndrome Wikipedia
    . ^ Miller AJ, Doherty TA (October 2019). "Hop to It: The First Animal Model of Autoimmune Postural Orthostatic Tachycardia Syndrome" . ... PMID 26846691 . ^ Miller AJ, Doherty TA (October 2019). "Hop to It: The First Animal Model of Autoimmune Postural Orthostatic Tachycardia Syndrome" .
    SLC6A2, SLC12A2
    • Orthostatic Intolerance Wikipedia
      Human disease Orthostatic intolerance ( OI ) is the development of symptoms when standing upright which are relieved when reclining . [1] There are many types of orthostatic intolerance. OI can be a subcategory of dysautonomia , a disorder of the autonomic nervous system [2] occurring when an individual stands up. [3] There is a substantial overlap between syndromes of orthostatic intolerance on the one hand, and either chronic fatigue syndrome (CFS) or fibromyalgia (FM) on the other. [4] It affects more women than men (female-to-male ratio is at least 4:1), usually under the age of 35. [5] Orthostatic intolerance occurs in humans because standing upright is a fundamental stressor and requires rapid and effective circulatory and neurologic compensations to maintain blood pressure , cerebral blood flow , and consciousness . When a human stands, approximately 750 mL of thoracic blood is abruptly translocated downward. People who suffer from OI lack the basic mechanisms to compensate for this deficit. [1] Changes in heart rate , blood pressure, and cerebral blood flow that produce OI may be caused by abnormalities in the interactions between blood volume control, the cardiovascular system , the nervous system and circulation control system . [6] Contents 1 Signs and symptoms 1.1 Acute OI 1.2 Chronic OI 2 Causes 3 Diagnosis 4 Management 5 Notable case 6 See also 7 References 8 External links Signs and symptoms [ edit ] Orthostatic intolerance is divided, roughly based on patient history, in two variants: acute and chronic . Acute OI [ edit ] Patients who suffer from acute OI usually manifest the disorder by a temporary loss of consciousness and posture , with rapid recovery (simple faints , or syncope ), as well as remaining conscious during their loss of posture.
    • Orthostatic Intolerance OMIM
      A number sign (#) is used with this entry because of evidence that orthostatic intolerance is caused by heterozygous mutation in the gene encoding the norepinephrine transporter (SLC6A2; 163970) on chromosome 16q12. One such family has been reported. Clinical Features Orthostatic intolerance is a syndrome characterized by adrenergic symptoms that occur when an upright posture is assumed: the heart rate increases by at least 30 beats per minute, without orthostatic hypotension (Jacob et al., 1997). Most patients with orthostatic intolerance are women between the ages of 20 and 50 years (Low et al., 1995). This syndrome, first described by Da Costa (1871), has been called soldiers heart (Fraser and Wilson, 1918), neurocirculatory asthenia (Wooley, 1976), and mitral valve prolapse syndrome (Boudoulas et al., 1980). It is similar in many respects to chronic fatigue syndrome (Schondorf and Freeman, 1999).
    • Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency Orphanet
      A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.
  • Beckwith–wiedemann Syndrome Wikipedia
    These symptoms may include macroglossia, organomegaly, periorbital fullness, and hernias. Knockout models for CDKN1C in mice do exist; in fact, many of the affected offspring exhibit fetal and neonatal lethality and have most of the features related to Beckwith-Weidemann Syndrome. [12] Management [ edit ] Abdominal wall defects are common in newborns with BWS and may require surgical treatment.
    CDKN1C, IGF2, H19, KCNQ1OT1, KCNQ1, NSD1, H19-ICR, SPTBN1, PIK3CA, CIB2, TGM1, CTCF, WDR20, UROD, RSS, AFP, IGF1, CORO1A, SMS, PLAGL1, H3P47, GPC3, HRAS, ELN, GTF2I, GNAS, IGF2R, DNMT1, GTF2IRD1, GRB10, DLK1, MYOD1, CALCA, HIC1, PALB2, CD48, NLRP2, ZDBF2, IFT46, IGF1R, ZNF44, ATAD5, TRPM5, C11orf21, PHPT1, PGAP2, TBL2, SMUG1, CEND1, FRA18C, ZNF436, CBS, PERCC1, ASAH1, CBSL, DEL11P13, IH, INS-IGF2, POU5F1P4, POU5F1P3, ZACN, ZFP57, ZNF763, VPS51, NLRP7, ZNF569, AMER1, CMTR1, ZNF501, ZNF629, TBPL1, CD81, DDX11, S100A8, PTH, POU5F1, PLXNA2, PAX6, SLC22A18, NRAS, MTHFR, TRPM1, MAT1A, SMAD3, LMO1, LGALS1, KCNJ11, JBS, SNRPN, SOX2, SOX3, ZNF214, DIO3, HTC2, IL1RL1, SGCE, RASSF7, ZNF215, ZNF143, ABCC8, WT1, WEE1, APC, TP53, TFPI, TERT, TYRP1
    • Beckwith-Wiedemann Syndrome GARD
      Beckwith-Wiedemann syndrome (BWS) is a growth disorder that can affect several parts of the body. Babies and children are larger than normal usually until age 8, when growth slows down, resulting in an average height in adults. Symptoms may include one side or area of the body growing more than the other side (asymmetric growth or hemihyperplasia ), omphalocele or other abdominal wall defect at birth, low blood sugar (hypoglycemia) in infancy, an abnormally large tongue (macroglossia), abnormally large abdominal organs, creases or pits in the skin near the ears, and kidney abnormalities. Affected children have an increased risk to develop tumors, particularly a rare form of kidney cancer called Wilms tumor , a cancer of muscle tissue called rhabdomyosarcoma, and a form of liver cancer called hepatoblastoma . Some people only have one symptom while others may have many of the symptoms.
    • Beckwith-Wiedemann Syndrome Orphanet
      Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. Clinical description Patients tend to grow at an increased rate during the 2nd half of pregnancy and in the first few years of life; adult heights are typically in the normal range. Abnormal growth may also manifest as hemihyperplasia and/or macroglossia (leading to difficulties in feeding, speech and infrequently, sleep apnea). Hypoglycemia is reported in 30-50% of neonates. A recognizable facial gestalt is common and often normalizes by adulthood. In addition to macrosomia, macroglossia, hemihyperplasia and hypoglycemia, characteristic findings may include omphalocele/umbilical hernia/diastasis recti, embryonal tumor, anterior earlobe crease(s) and posterior helical pit(s), nevus flammeus or other vascular malformations, visceromegaly involving abdominal organs, fetal adrenocortical cytomegaly (pathognomonic), renal abnormalities, positive family history, and rarely cleft palate.
    • Beckwith-Wiedemann Syndrome GeneReviews
      Summary Clinical characteristics. Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly), and ear creases/pits. BWS is considered a clinical spectrum, in which affected individuals may have many of these features or may have only one or two clinical features. Early death may occur from complications of prematurity, hypoglycemia, cardiomyopathy, macroglossia, or tumors. However, the previously reported mortality of 20% is likely an overestimate given better recognition of the disorder along with enhanced treatment options. Macroglossia and macrosomia are generally present at birth but may have postnatal onset.
    • Beckwith-Wiedemann Syndrome MedlinePlus
      Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall. In some children with Beckwith-Wiedemann syndrome, specific parts of the body on one side or the other may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth pattern, which is known as hemihyperplasia, usually becomes less apparent over time.
    • Beckwith-Wiedemann Syndrome OMIM
      A number sign (#) is used with this entry because Beckwith-Wiedemann syndrome (BWS) can be caused by mutation or deletion of imprinted genes within the chromosome 11p15.5 region. Specific genes involved include p57(KIP2) (CDKN1C; 600856), H19 (103280), and LIT1 (KCNQ1OT1; 604115). Hypermethylation and variation in the H19/IGF2-imprinting control region (ICR1; 616186) on chromosome 11p15.5, which regulates imprinted expression of H19 and IGF2 (147470), is also associated with BWS. See also Silver-Russell syndrome (SRS; 180860), which is caused by hypomethylation defects at 11p15. Description Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development.
  • Williams Syndrome Wikipedia
    References [ edit ] ^ a b Nikitina, EA; Medvedeva, AV; Zakharov, GA; Savvateeva-Popova, EV (January 2014). "Williams syndrome as a model for elucidation of the pathway genes - the brain - cognitive functions: genetics and epigenetics" . ... "Defining the social phenotype in Williams syndrome: A model for linking gene, the brain, and behavior" . ... (eds.). Williams Syndrome . Seattle (WA): University of Washington, Seattle.
    GTF2IRD1, BAZ1B, GTF2I, LIMK1, DLG4, ELN, MLXIPL, FKBP6, CLIP2, FZD9, EIF4H, LOX, SRC, FBN1, STX1A, ADAMTS17, GTF2IRD2, ADAMTS10, NCF1, RFC2, CALCA, FZD3, NSUN5, BCL7B, LAT2, WRN, S100A12, ARSD, PDLIM1, GTF2IP1, CDKN1C, BUD23, H2AX, ATR, ZRS, DECR1, CLDN3, CLDN4, CTCF, ZNF763, DNAJC30, PDLIM5, ADAMTSL2, ZNF629, TRIM73, TRIM74, PLF, STAG3, CBLL2, PRPF31, EBPL, ZNF569, TBL2, SIRPA, PCLO, TRIM50, ZNF501, ZNF44, TRPV6, PRDM9, NSD1, MUL1, ZNF436, RCC1L, ACTB, VDR, HSPB3, ELK3, LTBP2, HTC2, HSPB2, HSPB1, GABRA1, FRA7G, FMR1, DMBT1, FZD1, DDX11, COX8A, CALCR, CACNA2D1, SERPING1, BCL7A, AVP, SMAD1, MBNL1, NCF4, PRKN, FZD5, ZNF143, ZNF24, TRPC3, TG, HNF1B, SYN1, SPRR2A, CLIP1, POMC, PMS2, PMP22, PLS3, SERPINA1, PCNA, WBSCR23
    • Williams Syndrome GARD
      Williams syndrome is a genetic condition that affects many parts of the body. Signs and symptoms include mild to moderate intellectual disability; unique personality traits; distinctive facial features; and heart and blood vessel problems. Williams syndrome is caused by a person missing more than 25 genes from a specific area of chromosome 7 (a "deletion"). The loss of these genes contributes to the characteristic features. Although Williams syndrome is an autosomal dominant condition, most cases are not inherited and occur sporadically in people with no family history of Williams syndrome. Treatments are based on each person's signs and symptoms, as there is no cure at this time.
    • Williams Syndrome MedlinePlus
      Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common among people with this disorder.
    • Williams Syndrome GeneReviews
      Summary Clinical characteristics. Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to poor weight gain in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones. Diagnosis/testing. Clinical diagnostic criteria are available for Williams syndrome; however, the diagnosis requires detection of a recurrent 7q11.23 contiguous gene deletion of the Williams-Beuren syndrome critical region (WBSCR) that encompasses the elastin gene ( ELN ). This contiguous gene deletion can be detected using fluorescent in situ hybridization (FISH) and/or deletion/duplication testing. Management. Treatment of manifestations: Early intervention programs, special education programs, and vocational training address developmental disabilities; programs include speech/language, physical, occupational, feeding, and sensory integration therapies.
    • Williams Syndrome Orphanet
      A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity).
    • Williams-Beuren Syndrome OMIM
      A number sign (#) is used with this entry because Williams-Beuren syndrome (WBS) is a contiguous gene deletion syndrome resulting from the hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. For a discussion of the genes deleted in this syndrome and possible genotype/phenotype correlations, see below. Description Williams-Beuren syndrome is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which contains approximately 28 genes. Pober (2010) reviewed the clinical features of Williams-Beuren syndrome as well as the genomic and genetic basis and clinical management. See also the distal chromosome 7q11.23 deletion syndrome (613729), which occurs between the WBS region and the MAGI2 gene (606382).
  • Lynch Syndrome I OMIM
    Wijnen et al. (1998) used these results to devise a logistic model for estimating the likelihood of a mutation in MSH2 and MLH1. ... Loukola et al. (1999) reported an evaluation of a logistic model based on family history data for the detection of HNPCC patients with germline mutations. ... In the erratum, the authors stated that the logistic model was able to detect 6 out of 10 (with first-degree pedigrees) and 8 out of 10 (with extensive pedigrees) mutation carriers. ... Most MLK3 somatic mutations identified were of the missense type (62.5%), and more than 80% of them affected evolutionarily conserved residues. A predictive 3D model demonstrated that MLK3 missense mutations clustered in the kinase domain, but probably affected scaffold properties rather than kinase activity.
    MSH2, MLH1, PMS2, MSH6, MLH3, EPCAM, TGFBR2, FAN1, APC, KRAS, PMS1, MSH3, EXO1, PALB2, CHEK2, ATM, PIK3CA, CDH1, PTPRJ, CTNNA1, CD44, EPHX1, CDKN1B, NFKBIZ, SMARCA4, BARD1, SEMA4A, XRCC4, RPS20, MUTYH, FBXO11, CTNNB1, BRCA2, MRC1, BRCA1, BRAF, TP53, PTEN, FAP, CDKN2A, CCND1, RINT1, PTGS2, H3P10, CD274, REEP5, NHS, BAX, BAAT, SMAD4, NAT2, STK11, COX2, IGF1, MTHFR, HRAS, POLE, HDAC2, ARID1A, MTCO2P12, XRCC6P5, PMS2CL, ARSA, CEACAM5, RAD51C, GSTT1, CYP1A1, MYC, BRIP1, EGFR, POLD1, GSTM1, GSTP1, LRRFIP2, XPA, ANXA10, VHL, RASSF1, TIMP2, AIP, TGFB1, SOCS1, CTCF, RNF43, SEC63, EMB, MIR18B, MIR31, MIR23B, MIR223, MIR152, MIR148A, LINC01194, GSTK1, ARSI, CISD3, HEPACAM, SLCO6A1, MUC16, ZHX2, ATAD1, STN1, MYH14, CPAT1, NLRP2, CDHR2, CDHR5, F11R, SGSM3, NPTN, GREM1, SPEN, ZEB1, NAT1, ST8, SPTBN1, KAT2A, FMR1, ETS1, ERCC2, ERBB2, EPHB1, ENG, ELK3, DNMT3B, DCC, CYP17A1, CYP1B1, CTLA4, KLF6, COMT, COL11A2, CEACAM7, CEACAM3, CDX2, CASP2, BLM, APEX1, APBA1, ALK, AKT1, PARP1, ACVR2A, GJA8, HFE, IGF2, PCNA, SPRR2A, SLC6A2, RNASEL, RAF1, PTPRG, PSG2, MAP2K7, PRB1, PIK3CG, PIK3CD, PIK3CB, SERPINA1, NDUFAB1, IGF2R, NBN, MMP7, MMP1, MGMT, MEN1, MDM2, MCC, MAX, MAT2A, SMAD7, SMAD2, ITGA9, PDCD1
    • Colorectal Cancer, Hereditary Nonpolyposis, Type 2 OMIM
      A number sign (#) is used with this entry because hereditary nonpolyposis colorectal cancer-2 results from mutations in the MLH1 gene (120436). For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 (120435). Clinical Features Barrow et al. (2008) analyzed the cumulative lifetime incidence of developing colorectal cancer by age 70 years in 121 families with genetically confirmed Lynch syndrome. Fifty-one families had MLH1 mutations, 59 had MSH2 (609309) mutations, and 11 had MSH6 (600678) mutations. The first analysis corrected for ascertainment bias by allocating mutation carrier status to a proportion of unaffected, untested family members.
    • Hereditary Nonpolyposis Colorectal Cancer Wikipedia
      MSI is identifiable in cancer specimens in the pathology laboratory. [11] Most cases result in changes in the lengths of dinucleotide repeats of the nucleobases cytosine and adenine (sequence: CACACACACA...). [12] The 4 main genes involved in HNPCC normally encode for proteins that form dimers to function: MLH1 protein dimerizes with PMS2 protein to form MutLα, which coordinates the binding of other proteins involved with mismatch repair like DNA helicase , single-stranded-DNA binding-protein (RPA), and DNA polymerases . [13] [14] MSH2 protein dimerizes with MSH6 protein, which identifies mismatches via a sliding clamp model , a protein for scanning for errors. [15] [16] The impairment of either gene for the protein dimer impairs the protein function. [17] These 4 genes are involved in error correction (mismatch repair), so dysfunction of the genes can lead to the inability to fix DNA replication errors and cause HNPCC. [18] HNPCC is known to be associated with other mutations in genes involved in the DNA mismatch repair pathway: OMIM name Genes implicated in HNPCC Frequency of mutations in HNPCC families Locus First publication HNPCC1 ( 120435 ) MSH2 /EPCAM approximately 60% 2p22 Fishel 1993 [16] HNPCC2 ( 609310 ) MLH1 approximately 30% 3p21 Papadopoulos 1994 [19] HNPCC5 MSH6 7-10% 2p16 Miyaki 1997 [20] HNPCC4 PMS2 relatively infrequent 7p22 [21] Nicolaides 1994 HNPCC3 PMS1 case report [21] 2q31-q33 Nicolaides 1994 HNPCC6 TGFBR2 case report [22] 3p22 HNPCC7 MLH3 disputed [23] 14q24.3 People with MSH6 mutations are more likely to be Amsterdam criteria II-negative. [24] The presentation with MSH6 is slightly different than with MLH1 and MSH2, and the term "MSH6 syndrome" has been used to describe this condition. [25] In one study, the Bethesda guidelines were more sensitive than the Amsterdam Criteria in detecting it. [26] Up to 39% of families with mutations in an HNPCC gene do not meet the Amsterdam criteria . [ citation needed ] Therefore, families found to have a deleterious mutation in an HNPCC gene should be considered to have HNPCC regardless of the extent of the family history.
    • Hereditary Nonpolyposis Colon Cancer Orphanet
      A cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.
    • Colorectal Cancer, Hereditary Nonpolyposis, Type 4 OMIM
      A number sign (#) is used with this entry because hereditary nonpolyposis colorectal cancer-4 (HNPCC4) is caused by heterozygous mutation in the PMS2 gene (600259) on chromosome 7p22. Clinical Features Nicolaides et al. (1994) identified a germline deletion in the PMS2 gene in a patient with a family history of HNPCC. A second deletion was found in the patient's tumor sample. The tumor from this patient exhibited microsatellite instability. To examine the contribution of the PMS2 and EXO1 (606063) genes to the HNPCC disease phenotype, Thompson et al. (2004) studied 21 families negative for mutations in MSH2 (609309) and MLH1 (120436) that fulfilled the Amsterdam diagnostic criteria. They found that mutation in PMS2 accounts for only a small proportion of HNPCC families.
    • Lynch Syndrome Orphanet
      A rare inherited cancer-predisposing syndrome characterized by predisposition to a wide variety of cancers, including neoplasms of the digestive tract, urinary tract, kidney, endometrium, ovary, brain, and prostate, as well as sebaceous skin tumors, depending on the gene involved. Tumors may occur at any age but often arise in young people. Factors influencing individual tumor risk include sex, age, affected gene, and personal history of cancer.
    • Colorectal Cancer, Hereditary Nonpolyposis, Type 7 OMIM
      A number sign (#) is used with this entry because hereditary nonpolyposis colorectal cancer-7 (HNPCC7) is caused by mutation in the MLH3 gene (604395) on chromosome 14q24.3. For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer, see HNPCC1 (120435). Molecular Genetics Liu et al. (2003) screened index patients from 70 families with colorectal cancer for germline mutations in the MLH3 gene. None of the families had classical or attenuated familial adenomatous polyposis. Liu et al. (2003) identified 1 frameshift mutation and 11 missense mutations in MLH3 in 16 of the 70 index patients (23%).
    • Colorectal Cancer, Hereditary Nonpolyposis, Type 6 OMIM
      A number sign (#) is used with this entry because of evidence that hereditary nonpolyposis colorectal cancer-6 is caused by heterozygous mutation in the TGFBR2 gene (190182) on chromosome 3p22. For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 (120435). Clinical Features Among 5 HNPCC families without microsatellite instability, Lu et al. (1998) found a germline missense mutation in the TGFBR2 gene in 1 family. The proband and her 2 brothers had colorectal cancers complying with the clinical criteria A of HNPCC, but the onset of cancer was beyond 50 years of age in all cases (80 in the case of the proband and 65 and 60 in her 2 brothers, respectively), which did not satisfy the Amsterdam criteria. Unlike patients with typical HNPCC, affected members of this family lacked multiple synchronous, metachronous colorectal cancers and extracolonic cancers.
    • Colorectal Cancer, Hereditary Nonpolyposis, Type 5 OMIM
      A number sign (#) is used with this entry because hereditary nonpolyposis colorectal cancer-5 (HNPCC5) is caused by heterozygous mutation in the MSH6 gene (600678) on chromosome 2p16. Description Hereditary nonpolyposis colorectal cancer type 5 is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Castellsague et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 (120435). Clinical Features Miyaki et al. (1997) reported a family with HNPCC5.
    • Colorectal Cancer, Hereditary Nonpolyposis, Type 8 OMIM
      A number sign (#) is used with this entry because this form of hereditary nonpolyposis colorectal cancer results from heterozygous deletion of 3-prime exons of the EPCAM gene (185535) and intergenic regions directly upstream of the MSH2 gene (609309), resulting in transcriptional read-through and epigenetic silencing of MSH2 in tissues expressing EPCAM. For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 (120435). Molecular Genetics Chan et al. (2006) reported inheritance of germline allele-specific and mosaic hypermethylation of the MSH2 gene (609309), without evidence of DNA mismatch repair gene mutation, in a 3-generation Chinese family. Three sibs carrying the germline methylation developed early-onset colorectal or endometrial cancers, all with microsatellite instability and MSH2 protein loss. Clonal bisulfite sequencing and pyrosequencing showed different methylation levels in different somatic tissues, with the highest level recorded in rectal mucosa and colon cancer tissue, and the lowest in blood leukocytes.
  • Long Qt Syndrome Wikipedia
    Some lines of evidence suggest that repeated afterdepolarisations from many sources contribute to the continuing arrhythmia. [32] However, some suggest that the arrhythmia sustains through a mechanism known as re-entry. According to this model, the action potential prolongation occurs to a variable extent in different layers of the heart muscle with longer action potentials in some layers than others. [32] In response to a triggering impulse, the waves of depolarisation will spread through regions with shorter action potentials but block in regions with longer action potentials. ... "Timothy Syndrome". GeneReviews . Seattle (WA): University of Washington, Seattle.
    KCNE1, KCNQ1, SCN5A, KCNH2, RYR2, KCNE2, SCN4B, KCNE3, POMC, PTEN, CYP1A1, CACNA1C, CAV3, ANK2, SNTA1, MYBPC3, AKAP9, KCNQ1OT1, DSP, TECRL, SLC2A5, KCNQ1-AS1, SSUH2, KCNJ2, CALM2, HRAS, NOS1AP, KCNA5, KCNA4, KCNK3, CALM1, CALM3, KCND3, SCD, LINC01672, KCND2, KCNQ2, RWS, PICALM, SCN1B, KCNQ4, SNAP91, HCN4, KCNB1, MINK1, PELI1, ACSBG1, TAT, SEC1P, CUZD1, MIR19B1, MIR133A2, KCNE5, MIR133A1, RNF207, CAVIN1, TRDN, LYPD4, ALG10B, TDP2, ABCC8, ALG10, FSD1L, TBX20, ABCC9, FSD1, PRDM6, ACADM, SQLE, HSPA1A, GJB3, GJA5, GAST, FXN, FLNC, DMBT1, CRX, COL4A5, COL4A2, CD59, CAV1, CAD, CACNB3, CACNA1D, AR, HFE, HSPA1B, SLN, HSPA2, SLC18A2, SCN10A, RPGR, PPARD, ADRB1, CNTN3, MYH7, MUC2, ND1, LDLR, KCNQ3, KCNJ11, KCNJ9, KCNJ5, HSPA4, PMP22
    • Long Qt Syndrome GeneReviews
      Summary Clinical characteristics. Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the ECG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events.
    • Long Qt Syndrome Mayo Clinic
      Overview Long QT syndrome (LQTS) is a heart signaling disorder that can cause fast, chaotic heartbeats (arrhythmias). A heart signaling disorder is also called a heart conduction disorder. Some people are born with altered DNA that causes long QT syndrome (congenital long QT syndrome). Long QT syndrome may also occur later in life (acquired long QT syndrome) as the result of some medical conditions, certain drugs or mineral imbalances. Long QT syndrome can cause sudden fainting and seizures. Young people with LQTS syndrome have an increased risk of sudden death.
  • Angelman Syndrome Wikipedia
    "Understanding the Pathogenesis of Angelman Syndrome through Animal Models" . Neural Plasticity . 2012 : 1–10. doi : 10.1155/2012/710943 .
    UBE3A, CDKL5, MECP2, GABRB3, SNRPN, SNHG14, SYNGAP1, SLC6A1, PRKN, MUL1, ASXL3, CBLL2, KCNQ3, UBE2K, SNURF, OCA2, MKRN3, SLC9A6, PRNP, GABRG3, TCF4, HERC2, SNORD116@, HDAC1, RNF2, PVALB, ATP10A, UROD, STOML3, GABRA5, DYRK1A, MC1R, NIPA1, HTC2, BDNF, CYFIP1, H3P12, COPS2, ATP8A1, ZNF197, HDAC9, EEF1E1, MIR708, LMLN, NPAP1, DDI1, ATRAID, DYM, EPHA6, LAMTOR1, CYP26B1, SLC5A7, HAP1, DERL1, ASPM, NIPA2, TPPP2, TMPRSS13, TUBGCP5, NPAS3, ACTB, HERC1, MEF2C, CAMK2A, CDKN2C, CFL1, CREBBP, CYP11A1, DBI, DNAH8, EP300, ERBB4, ESR1, FOXG1, FMR1, HDAC2, HTR1A, MSMB, CASK, MST1, MTHFR, NDN, NNAT, NR4A2, PAFAH1B1, PSMD4, SCG5, SLC6A3, APP, TOP1, TP53, UBE2I, MAFK, TJP1
    • Angelman Syndrome Mayo Clinic
      Overview Angelman syndrome is a genetic disorder. It causes delayed development, problems with speech and balance, intellectual disability, and, sometimes, seizures. People with Angelman syndrome often smile and laugh frequently, and have happy, excitable personalities. Developmental delays, which begin between about 6 and 12 months of age, are usually the first signs of Angelman syndrome. Seizures may begin between the ages of 2 and 3 years old. People with Angelman syndrome tend to live close to a normal life span, but the disorder can't be cured. Treatment focuses on managing medical, sleep and developmental issues.
    • Angelman Syndrome GARD
      Angelman syndrome is a genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, problems with movement and balance (ataxia), epilepsy, and a small head size . Individuals with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A . Most cases of Angelman syndrome are not inherited, although in rare cases a genetic change responsible for Angelman syndrome can be inherited from a parent.
    • Angelman Syndrome OMIM
      A number sign (#) is used with this entry because 4 known genetic mechanisms can cause Angelman syndrome (AS). Approximately 70% of AS cases result from de novo maternal deletions involving chromosome 15q11.2-q13; approximately 2% result from paternal uniparental disomy of 15q11.2-q13; and 2 to 3% result from imprinting defects. A subset of the remaining 25% are caused by mutations in the gene encoding the ubiquitin-protein ligase E3A gene (UBE3A; 601623) (Kishino et al., 1997). See also X-linked mental retardation, Christianson type (300243), which shows phenotypic overlap with Angelman syndrome. Description Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language.
    • Angelman Syndrome Orphanet
      A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features. Epidemiology Prevalence of AS is estimated to be 1/10,000 to 1/20,000 worldwide. Clinical description Patients with AS appear normal at birth. In the first 6 months of the neonatal period, feeding difficulties and hypotonia may occur, followed by developmental delay between 6 months and 2 years of age. Generally from 1 year of age, the typical features of AS develop: severe intellectual deficit, absent speech, outbursts of laughter with hand flapping, microcephaly, macrostomia, maxillary hypoplasia, prognathia and neurological problems with a puppet-like gait, ataxia and epileptic seizures with specific electroencephalogram (EEG) abnormalities (triphasic delta activity with a maximum over the frontal regions). Other signs that have been described include a happy demeanor, hyperactivity without aggression, short attention span, excitability and sleeping problems with decreased need to sleep, increased sensitivity to heat, attraction to and fascination with water.
    • Angelman Syndrome GeneReviews
      Summary Clinical characteristics. Angelman syndrome (AS) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavior with an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. Microcephaly and seizures are also common. Developmental delays are first noted at around age six months; however, the unique clinical features of AS do not become manifest until after age one year, and it can take several years before the correct clinical diagnosis is obvious. Diagnosis/testing. The diagnosis of AS is established in a proband who meets the consensus clinical diagnostic criteria and/or who has findings on molecular genetic testing that suggest deficient expression or function of the maternally inherited UBE3A allele. Analysis of parent-specific DNA methylation imprints in the 15q11.2-q13 chromosome region detects approximately 80% of individuals with AS, including those with a deletion, uniparental disomy (UPD), or an imprinting defect (ID); fewer than 1% of individuals have a cytogenetically visible chromosome rearrangement (i.e., translocation or inversion). UBE3A sequence analysis detects pathogenic variants in an additional approximately 11% of individuals.
    • Angelman Syndrome MedlinePlus
      Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly ). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood. Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements.
  • Hidradenitis Suppurativa Wikipedia
    This name for the disease reflects the former pathogenetic model of acne inversa, which is considered inflammation of sweat glands as the primary cause of hidradenitis suppurativa.
    NCSTN, PSENEN, NLRP3, MEFV, NOD2, PSTPIP1, GJB2, PSEN1, IL17A, TNF, HYOU1, KDF1, IL1B, IL1A, IFNG, CRP, IL23A, IL10, IL22, CXCL8, PAPPA, IL6, IL20, GLI3, IL36RN, IL17B, DCD, IL37, IL13, AGO1, YME1L1, ADIPOQ, IL32, ACAD8, ADM, SND1, AGO2, C5AR2, SULT1B1, KRT20, IL26, RETN, ELOVL7, IL1F10, MTDH, RBM45, TET3, IL1RL2, SAA1, TLR4, IFNA1, BCL2, CAMP, MS4A1, CD27, CHI3L1, CTNNB1, CTNND1, EPHB2, ERBB4, HLA-A, HLA-DRB1, IDH1, IDH2, IDH3B, IFNA13, TIE1, IL12RB1, ITGAL, ITGB2, KLRB1, LCN2, CYP4F3, NHS, P2RX7, PDE4A, ANXA5, SAA2, SULT1E1, TARBP2, TGFB1, MIR21
    • Hidradenitis Suppurativa Mayo Clinic
      Overview Hidradenitis suppurativa (hi-drad-uh-NIE-tis sup-yoo-ruh-TIE-vuh), also known as acne inversa, is a condition that causes small, painful lumps to form under the skin. The lumps usually develop in areas where your skin rubs together, such as the armpits, groin, buttocks and breasts. The lumps heal slowly, recur, and can lead to tunnels under the skin and scarring. Hidradenitis suppurativa tends to start after puberty, usually before age 40. It can persist for many years and worsen over time. It can affect your daily life and emotional well-being.
  • Zika Fever Wikipedia
    Mosquito-borne Zika virus is suspected to be the cause of 2,400 possible cases of microcephaly and 29 infant deaths in Brazil in 2015 (of the 2400 or so notified cases in 2015, 2165 were under investigation in December 2015, 134 were confirmed and 102 were ruled out for microcephaly). [106] The Brazilian Health Ministry has reported at least 2,400 suspected cases of microcephaly in the country in 2015 as of 12 December, and 29 fatalities. [106] [107] [108] [109] Before the Zika outbreak, only an average of 150 to 200 cases per year were reported in Brazil. [110] In the state of Pernambuco the reported rates of microcephaly in 2015 are 77 times higher than in the previous 5 years. [110] A model using data from a Zika outbreak in French Polynesia estimated the risk of microcephaly in children born to mothers who acquired Zika virus in the first trimester to be 1%. [111] On 24 January 2016, the WHO warned that the virus is likely to spread to nearly all countries of the Americas, since its vector, the mosquito Aedes aegypti , is found in all countries in the region, except for Canada and continental Chile . [112] [113] The mosquito and dengue fever have been detected in Chile's Easter Island, some 3,500 km (2,200 mi) away from its closest point in mainland Chile, since 2002. [114] In February 2016, WHO declared the outbreak a Public Health Emergency of International Concern as evidence grew that Zika is a cause of birth defects and neurological problems. [18] [115] [116] [117] In April 2016, WHO stated there is a scientific consensus, based on preliminary evidence, that Zika is a cause of microcephaly in infants and Guillain–Barré syndrome in adults. [9] Studies of this and prior outbreaks have found Zika infection during pregnancy to be associated with early pregnancy loss and other pregnancy problems. [118] [119] Asia [ edit ] In 2016 imported or locally transmitted Zika was reported in all the countries of Asia except Brunei, Hong Kong, Myanmar and Nepal. [120] Serological surveys have indicated that Zika virus is endemic in most areas of Asia, though at a low level. [120] While there was a sharp rise in the number of cases of Zika detected in Singapore after the 2016 Summer Olympics in Brazil, genetic analysis revealed that the strains were more closely related to strains from Thailand than from those causing the epidemic in the Americas. [121] [122] [123] History [ edit ] Origin of the name [ edit ] It is named after the Zika Forest near Entebbe , Uganda , where the Zika virus was first identified. [124] Microcephaly and other infant disorders [ edit ] Zika virus was first identified in the late 1940s in Kampala, Uganda, Africa but was first confirmed in Brazil.
    ERVK-32, RAF1, IVNS1ABP, PTPN11, ERVK-6, IFNA1, IFNA13, STAT2, IFNAR1, IFNAR2, AXL, IL1B, TNF, DDX58, PLAAT4, ROBO3, RSAD2, IFNL1, KRAS, TP53, IFNB1, HPR, IL6, ALB, IFNL2, NLRP3, STAT1, CD40LG, TAM, TLR3, CD14, CXCL10, STING1, SMPD3, HSPA4, G3BP1, IRF3, HMOX1, ITPA, PERCC1, ERVK-20, GAPDH, IFIH1, FGF2, ERVW-1, ISG15, ZBP1, CH25H, NTPCR, PARP1, WWTR1, PHGDH, KPNA6, CEP131, RASSF1, HAVCR1, TUBB3, RIPK3, IFITM3, HSP90B1, TXN, TYRO3, MOGS, RIPK1, GNE, SART3, B3GAT1, ALDH5A1, PPIP5K1, ARTN, NR1I2, FOXD3, PAF1, AGO2, APOBEC3C, EDC3, MAP1LC3B, TRIM56, MFSD2A, SLFN11, NEURL3, TWIST2, TRIM69, WIPF2, TICAM1, MIR34A, MIR34C, CD24, LINC01672, ERVK-18, ZC3H12A, PARP12, TRPV4, SMOX, C19orf53, F11R, CHCHD2, ISYNA1, PHAX, XRN1, DDIT4, MIB1, TFAP2A, ATG16L1, VAC14, PARD3, MAVS, NUFIP2, TFRC, ADAR, TAC3, EIF4G1, EIF5A, EPHB2, EZH2, F3, FCGR3A, FCGR3B, FMR1, GABPA, GDNF, CXCL2, PDIA3, HLA-E, HNRNPA2B1, HNRNPD, IFI16, IFIT1, IFNGR1, EIF4G2, SARDH, STAT5B, DHX9, AP2A1, AGRP, ATF4, ATM, BCL2, BMP6, CASP1, CASP3, CAT, CD48, CHML, COL11A2, CSF2, CUX1, DCX, DDX3X, DDX6, IFNR, IL1A, IDO1, INSR, PIK3CD, PIK3CG, MAPK1, UPF1, RPE, SAT1, SRL, CCL2, ADM, CCL8, CXCL11, SELP, SOAT1, SOD2, SOX2, STAT3, STAT5A, PIK3CB, PIK3CA, PDB1, MDM2, INSRR, IRF1, LAMP1, LAMC2, LCN2, LTBR, CAPRIN1, CXCL9, PCM1, MAP3K11, MS, MSI1, MSX1, NFE2L2, OAS3, PAX7, CCL5
    • Zika Virus Disease Orphanet
      Zika virus disease is an emerging Aedes mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.
  • Hypoxia (Medical) Wikipedia
    "SAT-532: Expression of Beta-Oxidation Related Genes Under Hypoxic Condition Induced Preeclamptic Model in Vitro and in Vivo". Endocrine Reviews . 36 (2). doi : 10.1210/endo-meetings.2015 . ^ a b c Martin, Lawrence (1999).
    ACADVL, ESD, GAPDH, TFPI, SOD2, GNAS, ACTB, RPS14, MPO, NME1, NOS1, NOS3, NPPA, RPS2, PCK2, PDYN, PLAT, TKT, POMC, CA9, APOA1, ADK, SARDH, CTRB1, AHCY, ALDH1L1, CS, ALDOB, CPA2, EGR1, BDNF, ATP5F1B, ATF4, RET, ZFPM2, SCN8A, SLC35A1, PHOX2B, DNAH11, H3-3A, OAS1, MECP2, HBB, GDNF, GATA6, FBN1, ENG, EDN3, CSF2RB, CSF2RA, ASCL1, MAGEL2
  • Atypical Teratoid Rhabdoid Tumor Wikipedia
    There are also some emerging mouse models of the AT/RT cancer as well as experimental cell lines derived from tumors.
    SMARCB1, TP53, LIN28A, MYC, PROM1, CCND1, SMARCA4, BRAF, TSPO, SPP1, NF2, EWSR1, CLDN6, LIN28B, HMGA2, CHRM3, RASSF1, CXCL13, BMS1, ACACA, MLRL, XRS, VIM, TLE1, TEAD4, TBX5, TYR, CD274, FBXW11, MIRLET7B, LINC01672, MIR601, SMIM10L2B, MIR34A, MIR221, MIR155, MIR142, SMIM10L2A, SUN2, CHDM, PHF5A, MAP1LC3B, PRDM16, PID1, TBX1, GPKOW, CNTN2, SMARCA1, TAGLN, ACTB, IGF1, HTC2, H2AX, MTOR, F8, F3, EZH2, EREG, EGFR, TIMM8A, CNN1, BTF3, BCL2, ATM, ADA, IGF1R, CXCL8, INSR, SERPINF2, SHH, RPL10, RPL5, RHD, MAP2K7, PLK1, PIP, CD99, PIK3CG, PIK3CD, PIK3CB, PIK3CA, NPM1, MYCN, PERCC1
  • Hemophilia B OMIM
    Giannelli et al. (1992) used hemophilia B as a model of a genetic disease with marked mutational heterogeneity to lay out an overall strategy for genetic counseling. ... For the 10-year period 1982 to 1991, the average incidence of hemophilia A and B in the 6 surveillance states was estimated to be 1 in 5,032 live male births. Animal Model Kundu et al. (1998) generated a transgenic mouse model of hemophilia B by targeted disruption of the murine f9 gene. ... Wang et al. (1997) generated a mouse model in which the gene encoding factor IX was disrupted by homologous recombination. ... Thus, these factor IX-deficient mice provided a useful animal model for gene therapy studies of hemophilia B. ... The level of gene targeting achieved was sufficient to correct the prolonged clotting times in a mouse model of hemophilia B, and remained persistent after induced liver regeneration.
    F9, F8, COX8A, AK3, AAVS1, F2, F3, EGF, ALB, F5, SMUG1, CCHCR1, EBP, EIF2AK1, AMT, CCRL2, ST14, TFPI, IFI30, TNFRSF11A, SACM1L, FAM72B, KRT20, DCXR, POLE3, SERHL, AASDHPPT, TP53, RN7SL263P, NBEAL1, RIOX1, HPS6, FAM72A, RIOX2, VIPR1, SMN2, TLR4, FCGRT, CCT, MS4A1, CD38, CFTR, CGA, CTLA4, DBP, EMD, F11, FGG, SPRR2A, G6PD, GAD1, GCY, HLA-A, IL10, KRT31, MNT, TNFRSF11B, SOX3, H3P11
    • Hemophilia B GeneReviews
      Summary Clinical characteristics. Hemophilia B is characterized by deficiency in factor IX clotting activity that results in prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The age of diagnosis and frequency of bleeding episodes are related to the level of factor IX clotting activity. In individuals with severe hemophilia B , spontaneous joint or deep-muscle bleeding is the most frequent sign. Individuals with severe hemophilia B are usually diagnosed during the first two years of life; without prophylactic treatment, they may average up to two to five spontaneous bleeding episodes each month. Individuals with moderate hemophilia B seldom have spontaneous bleeding; however, they do have prolonged or delayed oozing after relatively minor trauma and are usually diagnosed before age five to six years; the frequency of bleeding episodes varies from once a month to once a year.
    • Moderately Severe Hemophilia B Orphanet
      Moderately severe hemophilia B is a form of hemophilia B (see this term) characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. Epidemiology Moderately severe hemophilia B accounts for around 30% of all cases of hemophilia B. Clinical description The biological activity of factor IX is between 1% and 5%. Spontaneous hemorrhages are rare. Etiology The disorder is caused by mutations in the F9 gene (Xq28) encoding coagulation factor IX. Genetic counseling Transmission is X-linked recessive.
    • Mild Hemophilia B Orphanet
      Mild hemophilia B is a form of hemophilia B (see this term) characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. Epidemiology Mild hemophilia B accounts for around 30% of all cases of hemophilia B. Clinical description The biological activity of factor IX is between 5 and 40%. Spontaneous hemorrhages do not occur. Etiology The disorder is caused by mutations in the F9 gene (Xq28) encoding coagulation factor IX. Genetic counseling Transmission is X-linked recessive.
    • Symptomatic Form Of Hemophilia B In Female Carriers Orphanet
      Symptomatic hemophilia B in female carriers is a form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX. Epidemiology Prevalence is unknown but this form of hemophilia is very rare. Clinical description Symptoms include abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Genetic counseling Transmission is X-linked recessive.
    • Hemophilia B Orphanet
      Hemophilia B is a form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency. Epidemiology Prevalence is estimated at around 1 in 30,000 males. Hemophilia primarily affects males, but a symptomatic form of hemophilia B in female carriers (see this term) has also been described with a generally milder clinical picture. Clinical description In general, onset of the bleeding anomalies occurs when affected infants start to learn to walk. The severity of the clinical manifestations depends on the extent of the factor IX deficiency. If the biological activity of factor IX is below 1%, the hemophilia is severe and manifests as frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction (severe hemophilia B; see this term).
    • Haemophilia B Wikipedia
      Genetic X-linked recessive bleeding disorder Haemophilia B Other names Hemophilia B This condition is inherited in an X-linked recessive manner. Specialty Haematology Symptoms Easy bruising [1] Causes Factor IX deficiency [1] Diagnostic method Bleeding scores, Coagulation factor assays [2] Treatment Factor IX concentrate [1] Haemophilia B , also spelled Hemophilia B is a blood clotting disorder causing easy bruising and bleeding due to an inherited mutation of the gene for factor IX , and resulting in a deficiency of factor IX. It is less common than factor VIII deficiency ( haemophilia A ). [3] Haemophilia B was first recognized as a distinct disease entity in 1952. [4] It is also known by the eponym Christmas disease , [1] named after Stephen Christmas , the first patient described with haemophilia B. In addition, the first report of its identification was published in the Christmas edition of the British Medical Journal . [4] [5] Contents 1 Signs and symptoms 1.1 Complications 2 Genetics 3 Pathophysiology 4 Diagnosis 4.1 Differential diagnosis 5 Treatment 5.1 Dental considerations 6 History 7 Society 8 See also 9 References 10 Further reading 11 External links Signs and symptoms [ edit ] Symptoms include easy bruising , urinary tract bleeding ( haematuria ), nosebleeds ( epistaxis ), and bleeding into joints ( haemarthrosis ). [1] Complications [ edit ] Patients with bleeding disorders show a higher incidence of periodontal disease as well as dental caries, concerning the fear of bleeding which leads to a lack of oral hygiene and oral health care. The most prominent oral manifestation of a mild haemophilia B would be gingival bleeding during exfoliation of primary dentition, or prolonged bleeding after an invasive procedure/tooth extraction; In severe haemophilia, there may be spontaneous bleeding from the oral tissues (e.g. soft palate, tongue, buccal mucosa), lips and gingiva, with ecchymoses.
    • Severe Hemophilia B Orphanet
      Severe hemophilia B is a form of hemophilia B (see this term) characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. Epidemiology Severe hemophilia B accounts for around 40% of all cases of hemophilia B. Clinical description The biological activity of factor IX is below 1%. Etiology The disorder is caused by mutations in the F9 gene (Xq28) encoding coagulation factor IX. Genetic counseling Transmission is X-linked recessive.
    • Hemophilia B GARD
      Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms may not become apparent until abnormal bleeding occurs following surgery or a serious injury.
  • Guillain–barré Syndrome Wikipedia
    These were refined in 1990. [4] [48] The case definition was revised by the Brighton Collaboration for vaccine safety in 2009, [49] but is mainly intended for research. [4] Plasma exchange was first used in 1978, and its benefit was confirmed in larger studies in 1985. [50] Intravenous immunoglobulins were introduced in 1988, and studies in the early 1990s demonstrated that they were no less effective than plasma exchange. [50] Research directions [ edit ] The understanding of the disease mechanism of Guillain–Barré syndrome has evolved in recent years. [20] Development of new treatments has been limited since immunotherapy was introduced in the 1980s and 1990s. [20] [50] Current research is aimed at demonstrating whether some people who have received IVIg might benefit from a second course if the antibody levels measured in blood after treatment have shown only a small increase. [11] [50] Studies of the immunosuppressive drugs mycophenolate mofetil , brain-derived neurotrophic factor and interferon beta (IFN-β) have not demonstrated benefit to support their widespread use. [50] An animal model (experimental autoimmune neuritis in rats) is often used for studies, and some agents have shown promise: glatiramer acetate , quinpramine , fasudil (an inhibitor of the Rho-kinase enzyme), [20] and the heart drug flecainide . [50] An antibody targeted against the anti-GD3 antiganglioside antibody has shown benefit in laboratory research. [20] Given the role of the complement system in GBS, it has been suggested that complement inhibitors (such as the drug eculizumab ) may be effective. [50] References [ edit ] ^ a b c d e f g h Ferri FF (2016).
    PMP22, CD86, AIRE, TNF, IL17A, CSF2, LAMC2, CD1E, ALB, CD1A, HLA-DQB1, IL1B, CD1C, TLR4, IL10, CD1B, ICAM1, IL23A, ISG20, FCGR2A, CRP, IL4, IL2RA, IL17D, HLA-DRB1, IL6, MAPK1, NFASC, GFAP, ITGAM, COX2, MYDGF, PTGS2, FCGR3A, APOE, IL27, FAS, MTCO2P12, CNTNAP1, YY1, YWHAZ, CXCR4, AIMP2, RETN, SELENBP1, TNFRSF1B, MIR155, GRAP2, GLDN, NOD1, VIM, MIR642B, SIGLEC14, AHSA1, OCLN, TLR2, TH, TGFB1, STAT3, SPP1, SMPD2, CXCL6, CCL2, PTPN11, MIF-AS1, IVNS1ABP, CSGALNACT1, POLDIP2, SMPD3, NS2, IL21, ISYNA1, FOXP3, IL22, ICOS, DLL1, ERVK-6, SIGLEC9, ST6GALNAC4, PTGS1, RNF19A, TUBGCP2, NOD2, SUMF2, FTSJ1, IL33, CADM1, FCRL3, FTSJ3, RBM45, HT, CABIN1, PLB1, YWHAQ, SIGLEC7, NOS2, PSMB6, F2R, HMGB1, HLA-DQB2, HLA-DQA1, HLA-DOA, CXCL2, CXCL1, NR3C1, GOLGA4, GNAO1, GLO1, GJB1, GALE, FOLH1, FCGR3B, ESR1, HPRT1, EPHB2, ENO2, CST3, MAPK14, CRK, COX8A, CNTN1, CDC42, CD59, CD80, CD14, CACNA1A, SERPING1, FASLG, HP, HSPA4, MAP2K7, MMP2, MAPK8, PRKD1, POMC, PLA2G1B, PKD1, PGF, PDCD1, NPPB, NPY, NOS3, NEFL, COX1, MRC1, MMP9, NR3C2, HSPD1, MIF, MBL2, LEP, ITGB2, ITGAL, IRF6, INSRR, CXCL10, IL18, IL12B, IL12A, IL2, IGHG3, IFNG, ERVK-32
    • Guillain-Barré Syndrome Orphanet
      A clinically heterogeneous spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants. Epidemiology The overall annual incidence of GBS varies between 1/91,000 and 1/55,000. In Europe and North America, AIDP is the most frequent form of GBS (accounting for around 90% of cases) and thus the term GBS in general is synonymous with AIDP in Western countries. The axonal forms account for only 3-5% of cases in Western countries but are much more frequent (30%-50% of GBS cases) in Asia and Latin America. Etiology In the majority of cases, an infectious disease precedes the onset of limb weakness with Campylobacter jejuni infection being the most frequently identified initiating event.
    • Guillain-Barre Syndrome GARD
      Guillain-Barré syndrome (GBS) is a rare syndrome in which the body’s immune system attacks part of the peripheral nervous system . The peripheral nervous system carries signals from the brain to the muscles. Symptoms of GBS include muscle weakness, numbness, and tingling sensations, which can increase in intensity until the muscles cannot be used at all ( paralysis ). The exact cause of Guillain-Barré syndrome is unknown. In most cases, GBS occurs a few days or weeks after symptoms of a viral infection. In rare cases, GBS may run in families. A diagnosis of GBS is suspected when a person has symptoms suggestive of the syndrome.
    • Guillain-Barre Syndrome Mayo Clinic
      Overview Guillain-Barre (gee-YAH-buh-RAY) syndrome is a rare disorder in which your body's immune system attacks your nerves. Weakness and tingling in your hands and feet are usually the first symptoms. These sensations can quickly spread, eventually paralyzing your whole body. In its most severe form Guillain-Barre syndrome is a medical emergency. Most people with the condition must be hospitalized to receive treatment.
  • Chagas Disease Wikipedia
    In the early stage, symptoms are typically either not present or mild, and may include fever, swollen lymph nodes , headaches, or swelling at the site of the bite. [1] After four to eight weeks, untreated individuals enter the chronic phase of disease, which in most cases does not result in further symptoms. [2] [5] Up to 45% of people with chronic infection develop heart disease 10–30 years after the initial illness, which can lead to heart failure . [2] Digestive complications, including an enlarged esophagus or an enlarged colon , may also occur in up to 21% of people, and up to 10% of people may experience nerve damage. [2] T. cruzi is commonly spread to humans and other mammals by the bite of a kissing bug. [6] The disease may also be spread through blood transfusion , organ transplantation , eating food contaminated with the parasites, and vertical transmission (from a mother to her baby). [1] Diagnosis of early disease is by finding the parasite in the blood using a microscope or detecting its DNA by polymerase chain reaction . [5] Chronic disease is diagnosed by finding antibodies for T. cruzi in the blood. [7] It affects more than 150 types of animals. [8] Prevention focuses on eliminating kissing bugs and avoiding their bites. [1] This may involve the use of insecticides or bed-nets . [9] Other preventive efforts include screening blood used for transfusions. [1] As of 2019 [update] , a vaccine has not been developed. [1] Early infections are treatable with the medications benznidazole or nifurtimox , which usually cure the disease if given shortly after the person is infected, but become less effective the longer a person has had Chagas disease. [1] When used in chronic disease, medication may delay or prevent the development of end–stage symptoms. [1] Benznidazole and nifurtimox often cause side effects, including skin disorders, digestive system irritation, and neurological symptoms, which can result in treatment being discontinued. [1] [2] As of 2019 [update] , new drugs for Chagas disease are under development, and experimental vaccines have been studied in animal models. [10] [11] It is estimated that 6.2 million people, mostly in Mexico, Central America and South America, have Chagas disease as of 2017, [1] [3] resulting in an estimated 7,900 deaths. [4] Most people with the disease are poor, [12] and most do not realize they are infected. [13] Large-scale population migrations have carried Chagas disease to new regions, which now include the United States and many European countries. [1] The disease was first described in 1909 by Brazilian physician Carlos Chagas , after whom it is named. [1] Chagas disease is classified as a neglected tropical disease . [14] Contents 1 Signs and symptoms 2 Cause 2.1 Transmission 3 Pathophysiology 4 Diagnosis 5 Prevention 6 Management 6.1 Complications 7 Epidemiology 7.1 Non-endemic countries 8 History 9 Research 9.1 Treatments 9.2 Diagnostic tests 10 See also 11 References 12 External links Signs and symptoms [ edit ] An acute Chagas disease infection with swelling of the right eye (Romaña's sign) Chagas disease occurs in two stages: an acute stage, which develops one to two weeks after the insect bite, and a chronic stage, which develops over many years. [2] [5] [15] The acute stage is often symptom-free. [2] When present, the symptoms are typically minor and not specific to any particular disease. [5] Signs and symptoms include fever, malaise , headache, and enlargement of the liver , spleen , and lymph nodes . [1] [2] [5] Rarely, people develop a swollen nodule at the site of infection, which is called "Romaña's sign" if it is on the eyelid, or a "chagoma" if it is elsewhere on the skin. [5] [16] In rare cases (less than 1–5%), infected individuals develop severe acute disease, which can cause life-threatening fluid accumulation around the heart , or inflammation of the heart or brain and surrounding tissues . [2] The acute phase typically lasts four to eight weeks and resolves without treatment. [2] Unless treated with antiparasitic drugs , individuals remain chronically infected with T. cruzi after recovering from the acute phase. [2] Most chronic infections are asymptomatic, which is referred to as indeterminate chronic Chagas disease. [2] However, over decades with chronic Chagas disease, 30–40% of people develop organ dysfunction ( determinate chronic Chagas disease), which most often affects the heart or digestive system . [2] [5] The most common manifestation is heart disease , which occurs in 14–45% of people with chronic Chagas disease. [2] People with Chagas heart disease often experience heart palpitations and sometimes fainting due to irregular heart function. [17] By electrocardiogram , people with Chagas heart disease most frequently have arrhythmias . [17] As the disease progresses, the heart's ventricles become enlarged ( dilated cardiomyopathy ), which reduces its ability to pump blood. [17] In many cases the first sign of Chagas heart disease is heart failure , thromboembolism , or chest pain associated with abnormalities in the microvasculature . [17] Also common in chronic Chagas disease is damage to the digestive system, particularly enlargement of the esophagus or colon , which affects 10–21% of people. [2] Those with enlarged esophagus often experience pain ( odynophagia ) or trouble swallowing ( dysphagia ), acid reflux , cough, and weight loss. [2] Individuals with enlarged colon often experience constipation , which can lead to severe blockage of the intestine or its blood supply . [2] Up to 10% of chronically infected individuals develop nerve damage that can result in numbness and altered reflexes or movement. [2] While chronic disease typically develops over decades, some individuals with Chagas disease (less than 10%) progress to heart damage directly after acute disease. [17] Signs and symptoms differ for people infected with T. cruzi through less common routes. ... Langgaard (1842). [52] The formal description of Chagas disease was made by Carlos Chagas in 1909 after examining a two-year-old girl with fever, swollen lymph nodes, and an enlarged spleen and liver. [52] Upon examination of her blood, Chagas saw trypanosomes identical to those he had recently identified from the hindgut of triatomine bugs and named Trypanosoma cruzi in honor of his mentor, Brazilian physician Oswaldo Cruz . [52] He sent infected triatomine bugs to Cruz in Rio de Janeiro , who showed the bite of the infected triatomine could transmit T. cruzi to marmoset monkeys as well. [52] In just two years, 1908 and 1909, Chagas published descriptions of the disease, the organism that caused it, and the insect vector required for infection. [53] [54] [55] Almost immediately thereafter, at the suggestion of Miguel Couto , then professor of the Faculdade de Medicina do Rio de Janeiro [ pt ] , the disease was widely referred to as "Chagas disease". [53] Chagas' discovery brought him national and international renown, but in highlighting the inadequacies of the Brazilian government's response to the disease, Chagas attracted criticism to himself and to the disease that bore his name, stifling research on his discovery and likely frustrating his nomination for the Nobel Prize in 1921. [53] [56] In the 1930s, Salvador Mazza rekindled Chagas disease research, describing over a thousand cases in Argentina's Chaco Province . [52] In Argentina, the disease is known as mal de Chagas-Mazza in his honor. [57] Serological tests for Chagas disease were introduced in the 1940s, demonstrating that infection with T. cruzi was widespread across Latin America. [52] This, combined with successes eliminating the malaria vector through insecticide use, spurred the creation of public health campaigns focused on treating houses with insecticides to eradicate triatomine bugs. [30] [52] The 1950s saw the discovery that treating blood with crystal violet could eradicate the parasite, leading to its widespread use in transfusion screening programs in Latin America. [52] Large-scale control programs began to take form in the 1960s, first in São Paulo , then various locations in Argentina, then national-level programs across Latin America. [58] These programs received a major boost in the 1980s with the introduction of pyrethroid insecticides, which did not leave stains or odors after application and were longer-lasting and more cost-effective. [52] [58] Regional bodies dedicated to controlling Chagas disease arose through support of the Pan American Health Organization , with the Initiative of the Southern Cone for the Elimination of Chagas Diseases launching in 1991, followed by the Initiative of the Andean countries (1997), Initiative of the Central American countries (1997), and the Initiative of the Amazon countries (2004). [30] Research [ edit ] Treatments [ edit ] Fexinidazole , an antiparasitic drug approved for treating African trypanosomiasis, has shown activity against Chagas disease in animal models. As of 2019, it is undergoing phase II clinical trials for chronic Chagas disease in Spain. [36] [59] Other drug candidates include GNF6702 , a proteasome inhibitor that is effective against Chagas disease in mice and is undergoing preliminary toxicity studies, and AN4169 , which has had promising results in animal models. [11] [60] A number of experimental vaccines have been tested in animals. ... As of 2019, vaccine research has mainly been limited to small animal models, and further testing in large animals is needed. [10] Diagnostic tests [ edit ] As of 2018, standard diagnostic tests for Chagas disease were limited in their ability to measure response to antiparasitic treatment. ... Endothelin-1 has been studied as a prognostic marker in animal models. [61] T. cruzi shed acute-phase antigen (SAPA), which can be detected in blood using ELISA or Western blot, [22] has been used as an indicator of early acute and congenital infection. [61] A novel assay for T. cruzi antigens in urine has been developed to diagnose congenital disease. [22] See also [ edit ] Drugs for Neglected Diseases Initiative Chagas: Time to Treat campaign Association for the Promotion of Independent Disease Control in Developing Countries References [ edit ] ^ a b c d e f g h i j k l m n o p q r s t u v w x y "Chagas disease (American trypanosomiasis)" . ... "Global economic burden of Chagas disease: a computational simulation model" . The Lancet Infectious Diseases . 13 (4): 342–8. doi : 10.1016/S1473-3099(13)70002-1 .
    CYP51A1, TNF, IL10, IFNG, MMP2, LGALS3, CCR5, PPARG, MMP9, IL2, HLA-A, HLA-DRB1, HSPA4, MTCO2P12, IL6, IL17A, MBL2, TLR4, COX2, IL18, IL1B, PTGS2, RBM45, CALR, PPP1R2C, TLR2, NFE2L2, NDUFA5, TGFB1, MYD88, CYTB, REN, IL1RN, NLRP3, ACHE, APOA1, ATM, PRL, VIP, TP53, VDR, KNG1, HP, TPI1, FN1, TLR9, CTSL, TRIM33, CYP2B6, ACE, BACE1, EPGN, NPNT, CCL4, CCL3, SPN, AMZ1, CCL2, THBS1, RRAD, TNFRSF1B, MIR208A, CCR2, SPINK1, CX3CL1, SDC4, SKIL, SLC11A1, SMPD1, SOD2, TRBV20OR9-2, KIR2DS2, TCN2, TWIST1, RO60, TRIM21, SRM, ROS1, COLEC11, PPARGC1B, PANX1, MASP2, PPARGC1A, SBNO2, SIRT2, RPIA, PLCB1, SIRT1, PTPN22, EBI3, PYCARD, HSPA14, UBAP1, GGNBP2, SBNO1, OTUB1, RABEP2, HEXIM1, KNTC1, TYK2, TNFSF11, VIM, VIPR1, VPS11, FOSL1, CDR3, DYSF, DBA2, TP63, ARHGEF10, MCU, ADAM7, EIF2S2, LMLN, MBD2, SLC25A31, TMPRSS11D, VIPR2, ABO, RAD51, CSF3, CYBB, DECR1, DHODH, DMD, EIF2S1, EIF2S3, FBN1, FCN2, FDPS, FHIT, FOXO3, GAST, G6PD, GABPA, GCK, GEM, GLUL, CTSB, CR1, HLA-G, CDKN1A, ACTB, ADA, PARP1, AGT, ALB, ALOX5, ARG1, STS, ATP2A3, ATP2B1, BCHE, BDNF, C3, CACNA1C, CAMP, CD80, CD86, HLA-DPB1, HSPD1, PPBP, COX1, NGF, NHS, NOS2, PNP, NRF1, OCA2, P2RX7, PAEP, PCNA, PDE2A, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PLCB4, POLG, POMC, PPP1R12A, MIF, IGF1, MEF2D, IGHG3, IL2RA, IL4R, IL7, IL12B, IL13, IL15, ISG20, ITPR1, KIR2DL2, KIR3DL1, KRT8, LGALS9, LTA, LY6E, MAP6, MEF2A, NT5E
    • Chagas Disease Mayo Clinic
      Overview Chagas (CHAH-gus) disease is an inflammatory, infectious disease caused by the parasite Trypanosoma cruzi. This parasite is found in the feces of the triatomine (reduviid) bug. This bug is also known as the "kissing bug." Chagas disease is common in South America, Central America and Mexico, the primary home of the triatomine bug. Rare cases of Chagas disease have also been found in the southern United States. Also called American trypanosomiasis, Chagas disease can infect anyone.
    • American Trypanosomiasis Orphanet
      A tropical disease mainly found in latin America and transmitted by triatomine insects (mostly Triatoma infestans and Rhodnius prolixus and Panstrongylus megistus ) harboring the hemoflagellate protozoan parasite Trypanosoma cruzi . The disease is characterized by an acute phase which is either asymptomatic or manifest with fever, inflammation at the inoculation site (inoculation chancre or chagoma), unilateral palpebral edema called the Romaña sign (when the triatomine bite occurs near the eye), enlarged lymph nodes, and splenomegaly. The chronic phase is lifelong and development of chagasic cardiomyopathy (30%; complex arrhythmias, heart failure, and thromboembolic events), digestive (10%; megaoesophagus and megacolon), neurological (10%; stroke, peripheral neuropathy and autonomic dysfunction), or mixed alterations (10%) may be observed. These can all lead to high morbidity and mortality rates.
  • Upshaw–schulman Syndrome Wikipedia
    .; Muchitsch, E. (2012). "A new mouse model mimicking thrombotic thrombocytopenic purpura: correction of symptoms by recombinant human ADAMTS13" .
    ADAMTS13, THBD, F3, TFPI, VWF, CFH, HLA-DRB1, THBS1, ZFP36, TNFSF10, MAPKAPK2, ABCA1, PTPN22, TNS3, IL33, RBM45, KCNH8, RN7SL263P, SH3BP4, CCL2, STAT3, APOA1, S100B, PTGS2, PHEX, COX2, JAK2, HP, BRF1, FLT4, EPHB1, ELAVL1, SLC25A10, CASP1, CACNA1S, MTCO2P12
    • Congenital Thrombotic Thrombocytopenic Purpura GARD
      Congenital thrombotic thrombocytopenic purpura (congenital TTP) is a blood disorder in which blood clots form in the small blood vessels throughout the body. Signs and symptoms typically develop in infancy or early childhood, but in some cases they do not develop until adulthood, particularly during pregnancy in women or after an infection or vaccination. Signs and symptoms generally are due to hemolytic anemia, low platelets (thrombocytopenia), and neurologic dysfunction. Symptoms of anemia can include fatigue, paleness, jaundice, shortness of breath, and a rapid heart rate. Widespread thrombosis (abnormal clotting) can lead to problems with the nervous system (such as personality changes, headaches, confusion, and seizures), abnormal kidney function, heart problems, and gastrointestinal problems.
    • Thrombotic Thrombocytopenic Purpura MedlinePlus
      Thrombotic thrombocytopenic purpura is a rare disorder that causes blood clots (thrombi) to form in small blood vessels throughout the body. These clots can cause serious medical problems if they block vessels and restrict blood flow to organs such as the brain, kidneys, and heart. Complications resulting from these clots can include neurological problems (such as personality changes, headaches, confusion, and slurred speech), fever, abnormal kidney function, abdominal pain, and heart problems. Blood clots normally form to stop blood loss at the sites of blood vessel injury. In people with thrombotic thrombocytopenic purpura, clots develop even in the absence of apparent injury.
    • Congenital Thrombotic Thrombocytopenic Purpura Orphanet
      A hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. Epidemiology Congenital TTP is much less common than the immune-mediated form of the disease (immune-mediated TTP), accounting for up to only 5% of all TTP cases. Up until 2017, 123 cases had been reported by the International Hereditary Thrombotic Thrombocytopenic Purpura Registry. The annual incidence is estimated at less than 1/1,000,000. Clinical description The majority of patients present during the neonatal period or during childhood but the clinical manifestations are highly variable with mild manifestations of isolated thrombocytopenia throughout childhood in some, and severe neonatal hyperbilirubinemia with episodes of thrombocytopenia and MAHA developing soon after birth in others. In addition, onset may also occur during adulthood, particularly in women when the initial episode of overt TTP is triggered by the first pregnancy.
  • Monoclonal B-Cell Lymphocytosis Wikipedia
    Among these mutations, IVGH4-59/61 is most often mutated in low-count MBL while IGHV1-69, IGH2-5, IGHV3-23, IGH23-33, IGHV3-48 , and IGHV4-34 are most often mutated in high-count MBL and CLL/SLL. [2] [9] Finally, genetic abnormalities such as the deletion of the q arm in chromosome 13 found in low count MBL are more commonly associated with a favorable prognosis in CLL/SLL while those found in high count MBL, e.g. deletions in the q arm of chromosome 11 or p arm of chromosome 17 [13] are commonly associated with unfavorable prognoses in CLL/SLL. [9] Individuals with MBL-MZ have monoclonal B cell cells that bear complex and distinctive genomic abnormalities, such as deletions and translocations involving chromosome 7, presence of an isochromosome 17, and, rarely, mutations in the NOTCH2 and KLF2 genes. [6] Some of these genomic abnormalities are similar to those found in splenic marginal zone lymphomas and some of the MBL-MZ patients that bore these abnormalities developed this lymphoma. [2] The genetic abnormalities in atypical and non-CLL/SLL MBL have not been well-defined. [ citation needed ] The cited studies suggest that there is a step-wise accumulation of genomic abnormalities that lead to CLL/SLL MBL and MBL-MZ and then to overt malignancy. [9] It presumed that similar accumulations led to the development of atypical and non-Cll/SLL MLB and than to their respective malignancies. [6] However, given the number and diversity of these abnormalities, it is unclear which are critical determinants of these disorders. [2] A recent model based on laboratory studies of normal CD19 + B cell, monoclonal CLL/SLL MBL cells, and CLL/SLL malignant cells found that their accumulation of genomic abnormalities may be caused by progressively increasing: 1) double strand breaks in DNA , 2) activation of non-homologous end joining error-prone DNA repair mechanisms, and 3) consequential accumulation of genomic abnormalities which promote the clonal development, survival, proliferation, and ultimately malignancy of the involved B cells. [14] Infectious diseases [ edit ] Studies have identified MBL in ~30% of patients infected with the hepatitis C virus , found increased risks of CLL/SLL-MLB in patients with pneumonia, and decreased risk of CLL/CSS MBL in patients who have been vaccinated for influenza or pneumonia.
    NOTCH2, KRT20, MS4A1, LOC102724971, IGH, MBL2, LOC102723407, IGHV3OR16-7, IGHV3-69-1, CD19, LEF1, ITGA4, NOTCH1, IGF2BP1, IL22, MBL3P, CD274, IL21, AICDA, XPO1, HM13, CLEC12A, IMMP1L, MIR155, MIR15A, MIR21, LINC01672, COLEC10, BCL2, VIM, TP53, CXCR5, CD22, CD38, CD79B, CDK6, CCR6, IL2, IMPA1, JAK2, LAIR1, MME, NTF3, PIK3C2B, SELL, SIM1, BCL6, TNF, SPN
  • Diabetes Mellitus, Noninsulin-Dependent OMIM
    The contributions of Native American ancestors to maternal and paternal lineages were estimated as 90% and 40%, respectively. In a logistic model with higher educational status as dependent variable, the odds ratio for higher educational status associated with an increase from 0 to 1 in European admixture proportions was 9.4. ... Van Vliet-Ostaptchouk et al. (2008) genotyped 501 unrelated Dutch patients with type 2 diabetes and 920 healthy controls for 2 SNPs in strong linkage disequilibrium near the HHEX gene, rs7923837 and rs1111875, and found that for both SNPs, the risk for T2D was significantly increased in carriers of the major alleles (OR of 1.57 and p = 0.017; OR of 1.68 and p = 0.003, respectively). Assuming a dominant genetic model, the population-attributable risks for diabetes due to the at-risk alleles of rs7923837 and rs1111875 were estimated to be 33% and 36%, respectively. ... Among control subjects, the risk allele of this polymorphism was associated with impairment of insulin secretion according to the homeostasis model assessment of beta-cell function or the corrected insulin response. ... Unoki et al. (2008) detected consistent association of a SNP in KCNQ1 (rs2283228) with the disease in several independent case-control studies (additive model p = 3.1 x 10(-12); odds ratio = 1.26, 95% confidence interval = 1.18-1.34).
    PPP1R3A, HNF4A, PAX4, AKT2, GCK, IRS1, KCNJ11, HNF1A, HNF1B, SLC2A4, NEUROD1, PDX1, SLC2A2, IRS2, WFS1, HMGA1, ABCC8, CDKAL1, INS, INSR, ENPP1, ADCY5, CAPN10, TCF7L2, PPARG, TGFB1, LIPC, BCL2, MAPK8IP1, HP, NOS3, PPARGC1A, HMOX1, LEPR, ICAM1, UCP2, LEP, SIRT1, ADIPOQ, EDNRA, EDN1, TNF, TNFRSF1A, NOS2, KL, CPT1A, SNAP25, ATP2A2, EDNRB, RETN, GCKR, SLC30A8, GLIS3, GCGR, FTO, GLP1R, PTPN1, JAZF1, KCNQ1, IGF2BP2, MTNR1B, THADA, HMG20A, NOTCH2, PROX1, KCNK16, GPD2, UBE2E2, AP3S2, MAEA, CMIP, PEPD, GRB14, CCND2, PLEKHA1, DGKD, ZFAND3, ITGA1, PSMD6, PAM, KSR2, NFATC2, CAT, SHBG, MIR375, SLC2A1, BRAF, SLC1A2, ST6GAL1, HHEX, JADE2, IL13RA1, MIR126, SOD2, VPS26A, GSTM1, MOK, GNB3, GCG, CNKSR2, AUTS2, IGF2, GP2, INPPL1, SREBF1, SOD1, FGF21, LPL, ZNF257, FBN1, USP48, PPARA, SCTR, EPC2, IAPP, FAM234A, KLF14, CYBA, RNF6, IDE, ETS1, GIPR, CASP3, TNFRSF1B, SFRP4, OGG1, ND1, ADAMTS9, GPX1, AR, NFKB1, MIR27A, EGFR, MIR192, PCSK2, COX2, PRKCB, MIR144, HBA1, TIMP1, C2CD4A, ATF3, SLC22A3, MIR221, TMEM18, C3, C2CD4B, MIR483, MIR222, MIR423, RELA, FAS, CISD2, CBS, HK1, ATP2A3, MIR130B, HLA-DRB5, MIR203A, MIR142, CCDC92, MIR140, MIR200A, MIR98, MIR204, PAX6, ECE1, MIR214, ITLN1, MIR10B, MIR30A, MIR377, MIR1260A, CDO1, RARRES2, CCR5, SMAD5, MAT1A, NUS1, MIR1249, MIR1296, MAPK8, MIR1226, MIR1306, MRAS, MIR1228, MIR744, MIR939, CD36, MIR885, MIR1307, MIR151A, GPT, RBP4, IGF1, ID1, MIR127, MIR215, HSD11B1, MIR205, HPX, MIR195, MTOR, MIR141, GIP, HIF1A, MIR181C, GH1, UCP3, SOCS3, MIR17HG, MIR125B1, MIR432, MIR92B, MIR628, MIR532, MIR487B, BCL2L11, CYP1A2, S100A6, IL6, MIR485, MIR409, MIRLET7D, CCL2, MIR339, MIR335, MIR1301, MIR33B, MIR1908, MIR3173, MIR4482, BCL2L1, MIR4516, MIR8061, MIR6741, PRKAA1, PCK1, PCSK1, NFE2L2, BHMT, MIR7704, PPARD, MIR1260B, NUCB2, NKX6-1, ADRA2A, SERPINF1, AKT1, ZC3HC1, AGER, SERPINE1, MIR6803, KCNU1, AVP, MIR2116, MAPK1, TMEM155, MMP9, CASP8, PTGS2, G6PC, NR3C1, GSK3B, IGF1R, CCN2, REG3A, PIK3R1, CALCA, MAPK3, MAFA, HMGCR, MMP3, NPPB, SERPINA12, CRTC2, PC, ABCG2, CD38, BECN1, BAX, MMP1, PRKCZ, PTGDS, PRKN, MADD, HTR2C, AGTR2, TRPC1, ARRB2, LNPEP, AOC3, TRPC6, DCX, DEFB1, SMAD4, MIF, DNMT1, SLC9A1, CARTPT, NOG, PLAT, PLN, MTNR1A, UGT1A1, NFE2L1, DNM1L, CYP2E1, PPP1R3C, FOXM1, UGT1A6, SRD5A1, NR1D1, NOS1, THBD, AGRP, GJA1, PRKCE, CYB5R4, MAPK9, TGFBR2, CCKAR, CDKN2B, MAPK14, ACOT2, CYTB, MKI67, CTF1, SCN1B, DAG1, F7, ANKRD23, COL3A1, OXCT1, FEM1B, SRC, CALM1, CYP11A1, HSD3B1, KLF11, MAP1LC3A, KCNMB1, ARX, NCOA6, HSD17B3, TSPAN8, PNPLA3, GPT2, CASP7, BAD, ABCC2, ASIP, CASP12, PHOX2A, EPAS1, ATP2A1, PPP2CA, AK1, GADD45GIP1, AANAT, ATP5F1B, SLC16A11, STAR, BEST1, MPST, MTR, ALDOB, PRKCI, CCHCR1, MC4R, LMNA, CRHR1, EIF3F, SDF2L1, HLA-DQB1, SLC12A3, ATF6, CDKN2B-AS1, CAMK1D, NEUROG3, CTNNB1, ALMS1, ARAP1, ATM, UMOD, CDC123, ANK1, GRK5, DUSP9, NOX4, ABO, CYP19A1, ARL15, ELN, SRR, TP53INP1, CASR, TM6SF2, PTPN22, KIF11, CUBN, MAP2K7, TMEM163, GPR55, SCGN, TFAP2B, AGMO, HMGA2, DNER, ALDH7A1, RBMS1, HECTD4, RFC2, LAMA1, AHR, PRPF31, SLC26A9, PROM1, CTBP1-DT, ARG1, UBE2Z, DGKB, POU5F1, AHI1, ZMIZ1, RP9, INS-IGF2, ZRANB3, COBLL1, FAF1, TCF19, PRC1, ACSL1, TH, ND5, PTPRD, RASGRP1, GLP2R, RBPJ, TUB, GATAD2A, BAZ1B, LINGO2, NRL, ALK, PBX4, SSR1, NDUFAF6, PRKAG2, CLIP2, WRN, POC5, DHDDS, OAS1, SNHG17, ABCA4, SGCD, SLC16A13, CAMTA1, CTRB1, ADGRL3, EHMT2, SPPL3, STUB1, CAMK2G, TRDN, MACF1, TSBP1, STX8, TTLL6, PTPRN2, CAMKK2, RREB1, TRPM1, BCL9, LIG4, ATXN1, CTBP1, SUGP1, ROM1, TPCN2, MPHOSPH9, MCM6, SH2B3, POMGNT1, MASP1, FBXW7, RBPJL, SGCG, LIMK1, PPP2R2C, PDE6B, CERKL, FAM161A, RBP3, HIVEP2, HLA-DRB9, HLA-DOB, PRIM2, GPR119, MAGEC3, ASCC2, HK2, PRPH2, PEX10, HLA-DRB1, HGSNAT, SSTR4, NPY, SUMO4, ARL6, MNX1, GUCA1B, LCN2, UNC5D, MOG, OSBPL7, PCSK9, TRNL1, NECTIN2, PRKAA2, RTN4RL1, TCF7, TTC8, MAK, PYY, CYB5D2, TTC39C, MAP6, DLEU7, MFAP1, CFAP77, RELN, MBNL1, RFLNA, EDARADD, RDH12, MCC, LINC02694, LINC01344, RPSAP52, PSMD9, PCARE, TNFRSF11B, NTRK2, PRKAB1, MMP2, PDE6G, NRG4, ST6GALNAC3, APOA5, LPA, CTTNBP2, NTRK3, LRMDA, PDE6A, ZSWIM3, LTA, HFE, PTH1R, PTH, PTGFRN, PCNT, REG1A, RHO, OSBPL1A, SLC5A2, ZNF513, SELE, CCDC149, C8orf37, CCNQ, PRRX1, PLCD1, IFNG, SLC5A1, IDH3B, IMPDH1, LINC01010, PLCB3, IL17A, IDH3A, IL18, SLC9B2, C17orf58, ND6, PPARGC1B, SELP, ZNF775, IL10, PLG, TRNQ, TRNS1, TRNS2, TRNK, SI, TRNH, TRNW, IL1RN, TRNF, IL4, IL1B, TRNE, IL1A, ST3GAL4, ST3GAL3, PPIL6, PDILT, CXCL8, ARL9, NEK2, ND4, REN, RP1, EYS, KCNQ3, PIK3CD, SPP1, HORMAD2, CHCHD6, RP2, PIK3CB, PIK3CA, NLRP3, MTHFR, SLCO4C1, SDHAF4, MSH3, RLBP1, KIF9-AS1, RGS13, RGS7, RGR, RFC1, NFKBIL1, RPGR, RPE65, MRPL12, CNDP1, CDHR1, COX3, REEP6, COX1, FFAR4, GPBAR1, SCD, ATXN7, ATXN2, SLC22A1, SAG, HNF1A-AS1, ZNF101, GOLGA6A, PON1, PIK3CG, TTLL8, CHMP4B, IL17REL, EHMT1, LINC01122, KCNQ1OT1, INTS8, RAB3GAP1, ENPP7P10, RALY, NLGN1, CPEB3, MGLL, MINDY1, SPATA7, CD59, CD81, UBAP2, ARHGAP15, CDK5, NUDT6, POLR3A, KIZ, CDKN2A, TRIOBP, SNRNP200, PALLD, ZHX3, LINC00844, ABCB9, ABCB10, CRB1, PRC1-AS1, BRS3, ARHGEF18, RPGRIP1L, ADAMTS9-AS2, LINC01426, CAD, UBE2E2-AS1, PROX1-AS1, CA4, OSER1-DT, SLC30A10, FBXL7, CEP68, ZZEF1, ANGPTL8, APOM, ARPIN-AP3S2, LMCD1-AS1, CNR1, ZBED3-AS1, ACKR3, MERTK, PDSS2, ATP8B2, DLEU1, LRFN2, RAMP2, CALCOCO2, CPA1, GPR158, TOPORS, STARD9, NAMPT, FRY, CRP, CRX, PITPNM2, CNGA1, CNGB1, GTF2I, NFAT5, PNPLA6, CETP, KLHL7, TEX14, ANKH, LINC00271, RAI1, HMGA2-AS1, CXCR6, PRPF8, SUMO2P17, CHUK, YKT6, ZGLP1, TXNIP, CLCNKB, C1GALT1, PRCD, ARL2BP, BLM, NR2E3, LOC102723407, AGT, AGTR1, LRP12, LINC02030, AHSG, PURG, LINC02484, ALB, LINC02841, PELO, AKR1B1, EXOC6, HPGDS, PALD1, FOXP1, CCND2-AS1, NSG1, LINC02576, SND1, LRP1B, FSCN3, ADRB3, ADIPOR1, ABCA1, ANKFY1, SNX7, PEX5L, GLRX5, HSD17B12, ASB3, ANGPTL4, ADA, ADRB2, ADARB1, SOST, IMPG2, GHRL, SCAPER, LINC01611, ADRA1A, ADRA2B, TBL2, ANPEP, RCBTB1, VPS33B, HNF4A-AS1, OSBPL3, SCAANT1, TXNL4B, PTPN23, MIR5094, ABI3BP, PINX1, SAMM50, FSCN2, BBS2, PRPF6, SRBD1, DIANPH, BDNF, DARS2, BGLAP, SBNO1, AMACR, LINC00824, ASCL2, LINC02010, APP, GIN1, APOA1, APOB, APOC3, HORMAD2-AS1, IFT172, APOE, CNTLN, APRT, POLDIP2, ETS1-AS1, PABPC4-AS1, LINC01339, TSBP1-AS1, C5orf67, ARL3, PKN2-AS1, GPSM1, TSPAN3, PCSK6, CST3, AGBL5, PABPC4, PEA15, EXT2, EYA2, OASL, FABP4, GDAP1L1, FABP2, OFD1, GCC1, ADIPOR2, NPRL3, IFT88, FGF23, FGF14, ZNF408, BEST3, MIR29A, ESR1, ALDH1A2, PRPF3, PIM3, NRXN1, NRXN3, PIEZO2, LRAT, LPAR2, XYLT1, PRPF4, APLN, KIF9, SEMA4A, SELENBP1, CLN8, MGAM, MTMR3, AKTIP, ZSCAN20, ZIC1, THSD4, TLR4, TULP1, TNKS2, ZNF34, GOT2, TP53, TNFAIP6, SLC2A10, FFAR1, UCP1, C16orf74, GPR42, TGFBR3, MLX, LINC02245, GSTP1, GSTT1, SPHKAP, MIR146A, FOXO1, GABPA, XRCC4, SCD5, CPED1, PCNX2, VWF, VSNL1, BICC1, GABRA4, USH2A, GABRG3, GAD1, GAD2, VEGFA, VDR, VCAM1, CLRN1, MED23, YTHDC2, DPP4, UBE3C, GTF2IRD1, DSPP, RHOBTB1, ACE, G6PC2, DECR1, MAGI2, DBP, SLC7A14, CLOCK, FCHSD2, ACE2, SINHCAF, USP3, CELSR1, RBM19, FGF19, MIR4435-2HG, RAPGEF5, GDF15, MTSS1, UVSSA, SFI1, CYP2C9, WSCD2, DEPDC5, TRIB3, DHX38, IFT140, SENP2, CYP21A2, KIAA1549, DOCK4, DARS1, MRPS35, BCHE, LIPE, AIMP2, RNF19A, LDLR, USF1, ARNTL, NOS1AP, AHSA1, GSTK1, PTEN, RBM45, RENBP, CTLA4, IGFBP1, CRK, GRAP2, DMD, GYS1, PON2, CCL5, POMC, IGFBP3, MME, STAT3, LGALS3, CYP2C19, SLCO6A1, LPIN1, F3, STAP2, APOA2, AQP7, FOXA2, SST, SLC17A5, MET, HMGB1, GPR151, NIDDM1, SELENOP, NIDDM2, GPRC6A, PCK2, GGT1, OR10A4, DIO2, HSPA5, GC, CYP3A4, LINC01672, MPO, GGTLC5P, SIRT6, TLR2, GLO1, ELMO1, BCL11A, MLXIPL, ARID4B, NRF1, P2RX7, MIR155, MSTN, CYP2B6, ACR, GGTLC3, MRGPRX1, ALDH2, PDR, GGT2, MRGPRX3, APOL1, HSPA1A, SIRT3, GPR166P, VN1R17P, OXER1, SLC2A11, FZD4, FNDC5, SNCA, MRGPRX4, MIR21, HSPA4, ABCG1, HSPA1B, LPAR3, CHI3L1, NR3C2, FGF2, CD14, ISL1, HAMP, LGR6, ARNT, ZBTB7C, CAV1, GGTLC4P, SGK1, PSEN1, NR1H4, CISD1, SELENOS, CD163, TMBIM4, VIP, CCN4, MFN2, ROCK1, IL22, GGTLC1, VIM, SLC22A2, SOD3, PLIN1, OGA, CNBP, PLA2G2A, SAT1, HAVCR1, FETUB, SFRP5, NAT2, EPO, IARS1, GLUL, LBP, MIR27B, STS, APOA4, ACACB, KNG1, MIR29B1, GAS6, IL15, CD44, HLA-DQA1, ATN1, FXN, CD68, ADM, MIR29B2, LOC102724197, MEFV, CRY2, HGF, FGF1, MTTP, DDIT3, ANGPTL3, BCL2A1, SIRT2, DKK1, INSRR, KCNJ4, IL33, FADS2, CASP1, IL6R, IL37, CCK, SORT1, TBC1D4, MT1A, HEBP1, PRL, MBL2, PARP1, GRK2, ARHGEF11, ROS1, TRPM5, PTX3, FADS1, PYCARD, IL2RA, KRT16, IL5, XPR1, IL2, BMP4, HIRA, LPAL2, FABP1, PADI4, CHDH, FANCD2, PTK2B, BRCA2, SOCS1, FN1, XBP1, SLC47A1, FOXC2, SLBP, PLA2G7, FGB, GHSR, DGAT1, LIPG, EPHB2, IGFBP2, MIR34A, ELANE, MT2A, HSPG2, SOAT1, DPPA3, SULT1E1, TPD52, SH2B1, HHIP, HDLBP, NR1I2, AZU1, MIR122, BTC, CPE, MAP4K4, PDHX, STAM2, NCAM1, ACP1, CMKLR1, NGF, NHS, PKD1, UTS2, MYH9, PGC, MTCO2P12, IFNL3, RAPGEF1, SORCS1, KIR3DL1, GPX3, KDR, P2RY12, TIMP3, SNAP23, FLVCR1, GRN, HDAC9, AMY2A, TNFSF14, COMT, RPL29, GPD1, PDE3B, RAPSN, DACT1, SPX, TRAF6, PVT1, CYP2D6, AKR1A1, KEAP1, MIR223, ALOX12, HDAC3, MARCHF1, ISG20, RNU1-1, ANGPT1, C1QTNF9, TNMD, GAS5, IL13, CXCL12, SPARC, ENO1, CCL16, GPR142, CXCL10, ENHO, STRA6, ST13, TFRC, NPC1, CACNA1E, STK11, STX1A, CCR2, PDK4, RUNX2, NRG1, ERBB2, S100A9, SQSTM1, C1QL3, BCAR1, CLPS, LRG1, TOMM40, GEM, ACACA, DDAH2, FKBP5, CISH, CDK4, LGR5, METRN, MUSK, CREB1, MIR17, FLAD1, TAS2R13, CD40LG, PSMA6, MIR143, SLC39A7, CLU, POU2F1, NR1H3, PTGES2, FOXP3, OLR1, PCNA, LRP5, GAPDH, SLC2A9, ABCB6, PRKCA, NR0B2, XRCC1, ENSA, CXCR4, F5, PLA2G10, NR4A1, PLA2G6, ABCG5, ACHE, FOXO3, FBRS, STAT5A, P2RX3, CACNA1D, FSD1, HPSE, NPPA, FGFR1, KLK3, ARSA, PRMT1, IGF2R, CHGA, KLF4, PPP1R3B, DHX40, ANXA1, PNPLA2, ELAVL2, ERP44, CIDEC, PRDM16, FBXO8, BMP7, VPS13C, STEAP4, NNMT, CCNL1, MCIDAS, HSPA2, APOD, KHDRBS1, APOH, DST, MIR30D, ADAM17, FCGR3B, FCGR3A, ISYNA1, POU2F3, OSM, MIR145, SMUG1, B2M, NR1H2, NTS, MIR152, TNFSF10, WNK1, UTS2R, TM7SF2, GGCT, WNT5B, TNFRSF12A, NUP62, DDAH1, COL18A1, CMA1, IMPACT, HEMGN, GFAP, TNFSF11, F2, SP6, F2R, OGN, FAAH, PDE5A, BTF3P11, IL18R1, PBX1, ERBB4, NBEAL2, SIRT4, TCF4, SIRT5, HCCS, ELOVL6, GTF2H1, TTR, CILP2, TEK, FSD1L, TERF1, TFAM, PHLPP1, BACE2, TRPV1, MIR182, G6PD, ESR2, VEGFC, TGFBI, GRB10, TGM2, BMP2, OPA1, PARL, LINC01194, SLC6A4, ENTPD1, PRKG1, CENPJ, DRD2, LOX, KCNJ1, DCTN4, MC3R, PPIG, TUBB4B, JAK2, JAK1, S100A8, CERS6, ITGAM, NOD1, SPRY2, RNR2, JPH3, ITGA2B, LAD1, TMEM154, LITAF, STK38, PTPN2, RPS6KB1, KLB, PLF, MBOAT4, UCN3, KCNMA1, ALOX5, KCNJ15, TIMM8A, SGSM3, BRD2, PLTP, CEACAM5, RRAD, PRTN3, KCNJ9, H6PD, RXRA, MUTYH, PSAT1, PROS1, IRAK1, ITGA2, ANGPTL2, PGR, AMD1P2, EBI3, LRP2, C1QTNF5, CREBRF, PPIA, ADCY3, PHOSPHO1, ABCB1, RAC1, LRP1, SFTPD, EGR1, CYP2J2, FOXD3, CAPN1, RN7SL263P, BMS1, COPA, RAD1, TFB1M, TMPRSS6, SERPINA1, C1QTNF1, AMD1, NTN1, C5AR2, CDK9, CD33, MMP8, CASQ1, METRNL, ALX4, CYP2C18, NPC1L1, TLR9, SCARB1, INTU, SELL, LARS2, CYBB, ARID1B, KLF7, MIR495, SLCO1B1, CX3CR1, DOK5, CYP2C8, CYP1A1, P2RY1, NCOA5, SLC27A4, MAGEE1, FST, GFPT2, DUSP12, LRPPRC, CDKN1B, CELA3A, RNLS, FAT1, FBN2, SLC52A2, FCGR2B, ATP6AP2, CDKN1C, PREX1, KMT2D, SEMA6A, KLHL42, CHRM3, MICA, CPT2, CDKN1A, CP, CRYZ, CDC42, COX4I1, NR1I3, FCN3, CTSD, FABP6, MIR486-1, COX8A, PDLIM5, PTPRU, CDK2, IVNS1ABP, ABCC5, POSTN, OGT, CSF2, HOTAIR, NISCH, AGXT2, BSG, P2RX2, DEFB103A, XYLT2, COL9A3, DYRK1A, MIR30C2, P2RX6, CIB1, EP300, RCAN1, FAM3A, MIR30C1, ABCG8, ATG7, MIR29C, SLC30A6, CAV3, EPHX2, ARID3A, CEBPB, GGA3, CEL, DNAJB3, MIR33A, MIR34C, MIR320A, CELA1, CAMP, CPB2, CALR, EGF, IL32, CAPN2, ADAM28, CES1, LILRB1, SLC25A20, CAPN3, SULF2, NOD2, HSPB3, EPOR, ARHGEF12, VASH1, ESRRA, TRIM72, SERPING1, ZNF410, COMP, MIR20B, PINK1, ICOSLG, CD5L, CHPT1, DAPK3, ABHD6, CYP17A1, CYP11B2, KLF5, MEG3, PDAP1, CYP3A5, SUCLA2, TXNRD2, CNDP2, ARHGAP22, TBC1D1, MEPE, KLRK1, SEMA3A, NPEPPS, AAA1, SPHK1, ATF7IP, PER2, DNASE1, FOXO6, SORBS1, TSC22D1, SARDH, NQO1, DHCR7, SOCS2, GDF11, P2RY2, NR4A3, SLAMF1, LDHA, LECT2, LGALS1, LIF, C1QTNF3, FAM3B, LMX1A, DUOX1, PVALB, ICOS, PTPRN, PTPN9, RMC1, CYP2R1, APLNR, AFP, AFM, KIF6, SMAD7, KCNIP1, ADORA1, MAPT, DUOX2, MBP, IL20, ADH1B, PLIN2, MDM2, MEF2A, NANS, FRMD3, TERF2IP, ALOX5AP, IL1R1, IL6ST, SLC39A1, IL12B, SDC2, SDC1, CXCL5, SRL, ALOX15, SPINK4, ITGAX, MSMO1, TSPAN31, S100B, COPD, SFXN1, GHS, RXRG, KCNJ6, DESI1, RRAS, PRRT2, DLL1, RORC, NPAS4, KISS1, KLK1, KRT18, PRSS55, PRKCD, LARP1BP2, HDAC7, PIK3C2G, TAAR1, NM, SLC25A3, PHB, ATP6V1H, PGF, PFKM, NOTCH1, NT5C3A, PEG3, NPHS1, BFAR, IL23A, ERFE, TRPM6, ACAT1, PDCD1, PWAR1, PCYT1A, OCA2, R3HDML, PCBD1, OPRM1, P2RX1, P2RX4, P2RX5, PAK1, ACLY, NFKBIA, PRKAR1A, POR, PRKAB2, MMP7, MMP12, MMP13, SRGN, PTPA, MMP14, MRC1, RNU6-392P, GPRC5B, GAL, MT1E, FITM2, MT1X, NF2, MTHFD1, METTL9, PLXNA2, SLC35G1, PLK1, GNPDA2, PLD1, PLCG1, PLAGL1, PLAG1, PLA2G1B, PKNOX1, PKLR, IKBKB, CHIT1, CRISPLD2, AZGP1, GSN, KLRC4-KLRK1, GSR, UGT2B15, TF, TERT, GATA6, SERPINA3, ANGPTL6, TERC, TXN2, VIPR1, UCHL1, TMEM132A, TAPBP, CFH, VLDLR, ERVK-18, C1QTNF12, HLA-DMA, ATP5PF, GAST, VTN, STX4, BID, GFER, STAT5B, TLR3, TRH, ACAD10, CRISP2, GLA, CEP55, CD2AP, CBLIF, P2RX5-TAX1BP3, MIR107, BCR, CIMT, GPR39, THBS1, TTN, GHR, FFAR2, TLE1, TKT, TXN, GCA, GPS2, KLF10, SESN2, GFPT1, ARID5B, GORASP2, MIR199A1, FGL1, SPINK1, AQP9, SOX4, SORD, SNRNP70, FKBP4, AOC2, ANXA6, SPZ1, HTN1, SLC30A1, APPL1, HTR2A, SLC16A1, TRPM7, ANGPT2, GPC5, SLC6A2, ST8SIA4, SLC2A5, ANKRD55, IGFALS, QRSL1, FHL1, MIR199A2, MIR20A, STAT4, LINC-ROR, PGR-AS1, SSTR5, WNT5A, MIR130A, ONECUT1, FLT1, SREBF2, NAT10, C4B_2, MYDGF, LOC107832851, DMAP1, LARP6, LY75-CD302, RASD1, RBM14-RBM4, LSR, NBAS, DEFB4B, MCS+9.7, HMGA1P8, LOC110806263, MMP26, RHOT1, CCL28, ALG1, METTL3, LIN7C, LINC00994, DIP, RPS10-NUDT3, GNG12-AS1, RAB14, WASHC1, CYRIB, VIM-AS1, NDUFA12, SLC50A1, NEIL3, LOC102723996, SIRT1-AS, THRIL, MIR1910, SLC38A2, ALL2, NLGN3, CASZ1, ENAH, ZFAND6, OPN1MW3, VPS35, EXOSC4, RNPC3, UGT1A10, UGT1A8, UGT1A7, ERRFI1, UGT1A5, UGT1A9, MIR3188, TEMPS, UGT1A4, BNC2, TRPM4, TET2, FBLIM1, SALRNA1, CBSL, LOC102723971, UGT1A3, TREM2, MIR3939, APPL2, MOCOS, ZC4H2, LGR4, DEFB103B, COMMD3-BMI1, MIR4756, USE1, ASAH2, ENOX1, BOP, CAMK2N1, SLC6A20, SLC52A1, CST12P, SAGE1, PLUT, WWOX, LRP1-AS, ADA2, MIR3666, IL17D, SHC3, CERNA3, HDL3, FXYD5, MIR4463, PERCC1, SOX6, UGGT2, ROBO4, DUSP26, SUCNR1, IGSF21, CISD3, TIMD4, TRIM47, KCTD1, MIF-AS1, TTC28-AS1, EXOC3L2, SLC9C1, UCN2, CYP4V2, WNT3A, GALP, SLC22A16, LY86-AS1, KRT90P, DSEL, HCCAT5, GORAB, BIRC8, AD7, RNU12, AQP11, H19, TXNRD3, SLC46A1, OPN4, PRDM6, CGB8, CGB5, MUC19, LINC00523, PGP, TRMT10A, ABCC11, BPIFA4P, HS6ST3, MMAB, PHF6, ZACN, SLC27A1, LINC-PINT, MALAT1, PPP1R1B, KAT8, CHKB-CPT1B, SLC41A2, HORMAD1, IMMP2L, LEKR1, SAMD12, MIXL1, GPR61, LINC01193, PWAR4, C7orf50, GLYR1, UBASH3B, ORAI1, PTPN5, GPIHBP1, MFSD9, HCAR2, ZNF469, ZBED3, ZGPAT, BRINP3, ZFP69, HSD17B13, ACTBL2, L3MBTL3, TIRAP, TAS2R12P, TAS1R3, NRK, CLDN19, SIK1, UPP2, PPM1K, SLC2A12, CBLL2, FAM3D, ACVR1C, DQX1, SGMS2, NLRP6, ARID2, PIFO, MLKL, TET3, PDIK1L, MTPN, LRGUK, ROMO1, OR2AG1, PIWIL4, SESN3, FGFBP3, GSC, MT1P3, HT, GPAT4, BEAN1, CD300LG, PTPRVP, SLC30A7, IL23R, FAM78B, CENPX, KLHDC7A, SGMS1, MED19, CADM2, ANGPTL5, DCD, THEM4, TADA1, AKNAD1, SLC41A1, OLIG1, SLC22A12, CASC2, ANKK1, OSBPL8, PTF1A, WDR72, NEGR1, HCG27, IL27, SPESP1, MARCHF8, FOLH1B, TPRG1L, LYPLAL1, UNC5B, TCHHL1, SKA1, MSI2, GGTA2P, JMJD1C, SLC39A12, TPPP2, SPIC, RFX6, SLC29A4, SETDB2, INHBE, MICC, MT1IP, CCAR2, MIR323B, MARK4, MIR146B, MIR202, SPTBN4, MIR496, MIR499A, MIER1, USP37, NPS, CHD8, POTEM, TSHZ3, ECSCR, HNP1, MIR424, MIR382, SLC25A19, EIF2AK4, IGAN1, NIF3L1, ELOVL5, BACH2, EXOC4, RNASEK, MIR378A, PLIN5, POTEKP, PGBP, UBL5, CXCL16, NEUROD4, POU5F1P3, CHCHD2P9, TNFSF12-TNFSF13, USP36, KMT5AP1, MUC5B, OPN1MW2, CPA6, HYMAI, CDK11A, SLC12A9, ARNTL2, CA10, SMARCAD1, OCTN3, CELF4, SPHK2, MIR708, C20orf181, MIR661, GOPC, PELI1, KIDINS220, POU5F1P4, CXADRP1, NCF1, CFAP97, WASH6P, XPO5, MIR590, MIR657, MIR593, PLEKHG5, MRS2, GJD2, ATP10A, SLC39A10, PROK2, MIR99A, TOMM5, MUL1, ASRGL1, MIR15A, MIR15B, MIR18A, MIR187, STN1, MIR200B, ADM2, PRR5L, BBS10, LIN28A, NLRX1, NEIL1, MIR206, TNFAIP8L2, MIR154, MOGAT2, MIR147A, MIR106B, MFRP, MED25, TLR10, NIPA2, MOB2, COLEC12, SETD7, ALPK1, TAS1R2, MIR125A, MIR128-1, TSEN2, MIR132, COASY, MIR210, IRX3, MIR95, MBOAT7, WDR13, MIR296, PDIA2, GORASP1, DCLRE1C, GMCL2, GMCL1, NFKBIZ, NSD1, MIR30E, FN3K, DMRTA1, MIR31, SLC17A9, UBE2O, FNDC4, GNPNAT1, RFX7, GRAMD2B, MIR217, LY6G6E, MIR219A1, KCTD15, MIR22, VKORC1, MIR23A, SLC30A5, MIR23B, BRD9, WNK4, MIR26B, FRTS1, ACD, SCLY, UTRN, LARS1, HACD3, IK, IGH, IGFBP5, IGFBP4, IFNA13, IFNA1, ICAM3, HTR4, HTR2B, HTC2, HSPD1, HSP90AA1, HSPB2, HSPB1, HSPA9, HSD11B2, HES1, HRC, HRAS, HOXA5, HNRNPK, HNRNPF, HNRNPA1, FOXA3, HMBS, IL3, IL4R, IL7, KCNJ10, L1CAM, KRT31, KRT19, KRT7, KPNA1, KIR3DL2, KIR2DS1, KEL, KCNN3, KCNN2, KCNK3, KCNJ3, CXCR1, KCND3, KCNC4, KCNB1, ITGB2, INSIG1, IMPA1, ILK, TNFRSF9, IL16, IL15RA, IL12A, HLF, HLA-DRA, HLA-DQB2, GDF1, GNAO1, GLRX, GLS, GCLC, GLB1, GK, GJA8, GJA4, GH2, GDNF, GDF2, OPN1MW, SFN, GCH1, GBP2, GATA4, GATA3, GAP43, GALNT2, GABRG2, GABPB1, FUT6, FUT2, NR5A1, GOLGB1, GPI, HLA-DQA2, HSD17B10, HLA-DPB1, HLA-DOA, HLA-DMB, HLA-A, CFHR2, HCRT, HBA2, HAS3, HARS1, HADH, HADHA, GZMB, GPM6A, GYG1, GTF3A, GSTA4, GSTA1, GRB2, FFAR3, GPR35, GPER1, GPR21, CXCR3, GPR1, LAMB3, LAMP1, LAMC2, CCN3, OAS3, NR4A2, NUCB1, NTRK1, YBX1, SLC11A2, NPY2R, NPR3, NPR2, NPR1, NPM1, NME1, P4HB, NGFR, NFYC, NFYB, NFYA, NFATC1, NEFL, NDUFS4, NAGLU, MYO5A, MYLK, MYL2, OMG, PAEP, MYF5, PDK2, PIN1, PIK3C3, PIK3C2A, SERPINE2, SERPINB6, PGM1, PFKFB3, PFKFB2, PFDN2, PER1, PECAM1, PDHB, PRDX1, PDGFRB, PDGFB, PDE4D, PDC, PDB1, PCOLCE, SERPINA5, PCDH8, PAWR, PAPPA, SERPINB2, MYH6, MYD88, LAMP2, SH2D1A, MAX, MAS1, MAOA, MAN2A1, MAN1A1, MAFD2, SMAD3, SMAD2, SMAD1, MXD1, LYZ, LY75, MC5R, LY9, LTF, LTBR, CYP4F3, LRP6, LPP, LOXL2, FADS3, LIPA, LCN1, STMN1, MB, SMCP, MUC1, MST1, MTRR, RNR1, ATP8, MT1L, MT1M, MT1JP, MT1H, MT1G, MT1F, MT1B, MSX2, MSH5, ADAM11, MSH2, MPI, ALDH6A1, KMT2A, MGST3, MGP, MGAT2, MFAP2, MAP3K5, MEF2C, ME1, FOS, FOLR2, FOLR1, CA5A, CCND3, CCKBR, CBR3, CBR1, RUNX3, RUNX1, CAV2, CAMK2A, CALCR, CACNB3, CACNA1C, CA2, CD4, VPS51, C5, CAPN5, C4B, C4A, TSPO, BRCA1, BPI, BNIP3, BMP6, BMI1, CD247, CD86, BLK, CGA, AP3S1, CKM, CKB, CIDEA, CHRNB4, CHRNA4, CHN2, CHM, CEACAM7, CEACAM3, CGB3, CFTR, CD34, CTSC, CENPA, CECR, CEBPA, CDX2, CDKN3, CDK6, CDH13, CDH2, CD48, ENTPD3, BLVRA, BGN, CLCN3, AIF1, AMY1C, AMY1B, AMY1A, BIN1, AMPD1, AMH, ALPP, ALPL, ALDH3B1, ALCAM, ALAS1, AIC, ANXA5, ADORA3, ADORA2B, ADH1C, ADD1, ADCYAP1, ACVR2B, ACTG2, ACTG1, ACTB, ACAA1, AAVS1, ANK2, APCS, CFB, ATIC, BCS1L, OPN1SW, HCN2, BCAT1, AVPR2, ATP5PO, ATP7A, ATP5MC1, ATP4A, ATP2B1, ATP12A, ATHS, BIRC2, SERPINC1, ARSL, ARR3, RND3, RHOA, AQP5, AQP2, FASLG, APOC4, APOC2, BIRC3, CLCN2, CLCN5, FOLH1, EFNB3, EPHA4, ENO2, MARK2, ELK3, ELAVL1, EIF4G1, EIF4EBP1, EIF4A2, EGR3, EGR2, CELSR2, EFNB2, EPHX1, LPAR1, TYMP, EBM, E2F1, DUSP6, DRD3, DPYS, DPYD, DPT, DNTT, DMP1, EPHB1, ERBB3, DLD, FASN, FMO3, FLNA, FLII, FHIT, FGFR4, FGF11, GPC4, FDXR, FCP1, FCGRT, FBP1, FAP, ERG, FABP5, FABP3, F2RL2, F2RL1, EXT1, EVC, ETV3, ETFA, ESRRG, ESRRB, FBL, DMBT1, SEPTIN1, CLK2, COL17A1, CS, CRMP1, CREM, CREBBP, CRABP2, CPT1B, COX10, COX7A1, COX5B, MAP3K8, CORT, COL9A2, CSHL1, COL9A1, COL8A1, COL6A3, COL4A5, COL4A2, COL2A1, COL1A1, CNTF, CNR2, CMM, CCR1, CSF3, CST2, DIAPH2, BRINP1, CFD, DES, DEFB4A, DEFA3, DEFA1, DDX3X, DDT, AKR1C2, DCN, DBI, DBH, CYP27B1, CTAA1, CYP27A1, CYP8B1, CYP7A1, CYP2A6, CYP1B1, CYB5A, CXADR, CUX1, CTSL, CTSH, CTRL, PKM, PLA2G4A, PLEK, RBM14, SPTLC1, AGPAT1, PROCR, HYOU1, CARM1, UNC13B, CAP1, TIMM44, FAM3C, IFI30, LYPLA1, SPON1, SLC19A2, SPON2, NSA2, PEMT, ATP8A1, DLC1, CITED2, KLF2, WARS2, TCIRG1, SIGMAR1, FSTL3, SLC35A1, OLFM4, OLIG2, CCL27, BTN2A1, ADAMTS13, ESM1, LIAS, METAP2, EHD1, MALT1, FGL2, NMU, CD300C, CYP46A1, PPP1R13L, NPC2, CPLX1, WASF3, STARD10, SLC17A3, CAPN9, EBP, CD226, CTCF, IGF2BP3, IGF2BP1, USP16, ZMPSTE24, FLOT1, TREH, AIM2, GDF3, CXCL14, STXBP5L, GAL3ST1, ADAMTS2, ATG5, AKAP6, CHST3, FHL5, HOMER1, EIF2AK3, ITM2B, KIF20B, NCR1, TJP2, PEX16, TMPRSS11D, TGFBRAP1, ADGRG1, PIWIL1, ITGB1BP1, MSC, LARGE1, HACD1, SOX13, WTAP, TRIM13, MAFB, NUTF2, MPHOSPH10, TSHZ1, RBM6, HIPK3, PREB, AKT3, SCO2, KCNE2, THRAP3, EXOG, RNF10, NCOR1, SGSM2, HEPH, IP6K1, TOX, HDAC4, SART3, ECE2, AQR, EIF5B, LPIN2, NCOR2, PTPRT, MAP4K5, SLC16A7, DHDH, MCTS1, RGCC, SLC27A6, REM1, TRBV7-8, IGHD1-14, SLCO1B3, PCLO, MCAT, EIF3K, PDLIM3, SESN1, KLF15, SIT1, SERP1, IL17B, DISC1, DKK4, SIGLEC7, ACAD8, GREM1, BSCL2, PCOLCE2, CNNM1, DBNL, TBK1, HSPB8, MBL3P, CSAD, WAC, BPIFA1, TLR7, DNAJC27, IGF2-AS, GP6, IPO11, HSPA14, IRAK4, SLC35B3, G0S2, MYLIP, SLC40A1, TBX21, ERO1A, SLC2A8, SLC39A3, RHOD, PADI1, GPR132, HOOK2, CD274, CTNNA3, NUPR1, MYCBP, CHEK2, FAIM2, PSD3, SYNE1, TTC28, COBL, ARC, SIK2, FBXO28, SYT11, TBC1D9, CAND2, KDM1A, NT5C2, DICER1, RAB18, SACM1L, SBNO2, CARD8, MLXIP, COG2, ACOT7, MGAT4A, SLCO2B1, PTGDR2, AKAP13, CRTC1, NCS1, KLHL3, PANX1, PITPNC1, KIFBP, ATRNL1, TENM4, TKFC, PART1, MGAT4C, ARIH1, KLK5, TAFA5, SLC39A6, LY96, ZFPM2, BACE1, ZMYND8, DAPK2, FAM215A, SEC14L2, PES1, BRD4, TRAM1, NPTXR, TRS-AGA2-3, MLYCD, SLC33A1, ZBED1, SERPINF2, XCL1, SLC2A3, SLC1A7, SLC1A5, SKP2, SKIL, SIX3, SHC1, SRSF5, SELPLG, SDHA, CX3CL1, CCL22, SLC6A8, CCL20, CCL11, CCL8, CCL7, CCL4, CCL3, SCO1, SCN8A, SCN7A, SCN2A, SAA2, SLC5A5, SLC8A1, S100A12, SRI, TADA2A, TACR3, TAC3, TAC1, SYT4, SYT1, STXBP3, STX5, STIM1, STC1, SSTR2, SRD5A2, SLC9A3, SPRR2A, SPG7, SOX5, SOX2, SORL1, SIGLEC1, SMPD1, SLPI, SLCO1A2, SLC18A2, SLC10A2, SAA1, S100A4, TAL1, DNAJC3, PTMAP4, PTMA, PTGER3, PTBP1, PTAFR, PSMD3, PSMD2, PSMB6, PSMA7, PSG2, TMPRSS15, EIF2AK2, PTPN6, MAPK7, PRKD1, PPP1R2, POU3F1, POU2F2, PODXL, SEPTIN5, PNLIP, PMM2, PML, PMAIP1, PTPN4, PTPN11, RYR2, REG1B, RTN1, CLIP1, RPS19, RPS6KA3, RPS6KA2, RPN2, RPE, RORB, RNH1, RIT2, REV3L, REL, PTPRB, RCN2, RARB, RANGAP1, RAG1, RAB27A, RAB5B, RAB4A, PYGB, PTPRS, PTPRF, PTPRC, TAF1, TCP1, HTR3B, API5, ADAM19, MBTPS1, TNFRSF25, PAGE1, VAMP4, VAMP8, HSD17B6, JRK, KHSRP, DENR, PIAS1, CST7, TNFRSF14, DGKZ, IRS4, DOC2B, DYRK3, LOH19CR1, BRAP, PICALM, ZNF239, SLC14A2, AAAS, FOSL1, TNFSF12, RAB11A, MAFK, NOL3, PCSK7, HGS, MTMR7, USP2, USP14, PAPSS2, RPL14, CCRL2, TAF1C, F2RL3, KALRN, TRPA1, RIPK2, EIF2B5, ZPR1, FUBP1, PER3, TMEM11, BANF1, GALR2, TNFRSF11A, DLK1, TNFRSF18, SIGLEC5, ECB2, HBFQTL2, PRDX2, TLL1, HSP90B1, NR2C2, TPO, TPM4, TPM1, TOP2A, TOP1, TNFAIP3, NR2E1, TLR5, TLR1, TLE3, TRPM2, TJP1, TIMP2, TIAM1, THBS4, THBS2, TGFB2, TGFA, TFPI, TFAP2A, TERF2, TEP1, TRAF3, TST, TFEB, NSD2, LAP, PRRC2A, MANF, SLMAP, ZNF236, ZFP36, SF1, YWHAG, YY1, XDH, XBP1P1, WARS1, TNFRSF4, VPREB1, VEGFB, VDAC1, UPK2, UGT1A, UGCG, SCGB1A1, UBE2B, TYROBP, TYK2, TXNRD1, LINC02605
    • Type 2 Diabetes Mayo Clinic
      Overview Type 2 diabetes is a condition that happens because of a problem in the way the body regulates and uses sugar as a fuel. That sugar also is called glucose. This long-term condition results in too much sugar circulating in the blood. Eventually, high blood sugar levels can lead to disorders of the circulatory, nervous and immune systems. In type 2 diabetes, there are primarily two problems. The pancreas does not produce enough insulin — a hormone that regulates the movement of sugar into the cells. And cells respond poorly to insulin and take in less sugar. Type 2 diabetes used to be known as adult-onset diabetes, but both type 1 and type 2 diabetes can begin during childhood and adulthood.
    • Type 2 Diabetes MedlinePlus
      Type 2 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, the body stops using and making insulin properly. Insulin is a hormone produced in the pancreas that helps regulate blood sugar levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source. When blood sugar levels are high (such as after a meal), the pancreas releases insulin to move the excess glucose into cells, which reduces the amount of glucose in the blood.
    • Type 2 Diabetes Wikipedia
      "Projections of type 1 and type 2 diabetes burden in the U.S. population aged <20 years through 2050: dynamic modeling of incidence, mortality, and population growth" .
  • Gastrointestinal Stromal Tumor Wikipedia
    "Gastrointestinal stromal tumors (GIST): a model for molecule-based diagnosis and treatment of solid tumors".
    KIT, PDGFRA, SDHB, SDHC, TULP3, NME7, SDHA, SUFU, IFT52, SMO, CDON, TGFBR2, HIPK2, RB1, CD3E, IFT88, DYRK2, PTCH2, SALL3, KIF3A, STK36, ZBTB11, C2CD3, IFT172, RPL24, PTCH1, B9D1, RAB23, HIPK1, CTNNA1, DMD, TMEM17, BOC, FOXF1, DISP1, GLI1, GLI2, GLI3, NDST1, IHH, GLIS2, NPC1, TMEM231, HHIP, CC2D2A, HHAT, ELP4, CDKN2A, H3P10, PIK3CB, PIK3CG, PIK3CD, PIK3CA, PAX3, MIR4683, HOTAIR, MIR34C, MIRLET7C, CD34, DPP4, E2F1, MTOR, MEN1, TPX2, RASSF1, BANK1, TESC, SLC2A4, SLC12A3, SNAI1, TP53, TSC1, REC8, AKT1
  • Second-Impact Syndrome Wikipedia
    "Implementation of Neuropsychological Testing Models for the High School, Collegiate, and Professional Sport Settings" .
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