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Pancreatic Neuroendocrine Tumor GARD

However in some cases, a pancreatic NET occurs outside of the pancreas. A NET arises from cells that produce hormones, so the tumor can also produce hormones. ... Pancreatic NETs are called either functional or nonfunctional. A functional pancreatic NET causes specific symptoms because it makes extra hormones, such as gastrin, insulin, or glucagon. ... Pancreatic NETs can be hard to diagnosis, often not identified until 5 to 10 years after they begin to grow. Most pancreatic NETs are not inherited and occur sporadically in people with no family history of NETs.

MEN1, PCSK1, ATM, BRCA2, C11orf65, IGF2, SST, TP53, CDKN2A, SLC6A2, MTOR, EPHB1, POMC, GH1, GCGR, DAXX, ELK3, KRT19, SSTR2, CHGA, SSTR5, UCHL1, FZD4, GCM2, DLGAP1, DCLK1, SSTR4, INA, STK11, EIF2AK3, TFE3, THBD, CXCR4, PAX8, TSC1, TTR, TYMS, VEGFA, ABO, CNPY2, MRGPRX4, GPR166P, VN1R17P, MIR196A1, GADL1, MRGPRX1, GPRC6A, OXER1, GPR119, GPR151, MRGPRX3, SEMA3A, AZIN2, ACCS, STK33, LGR6, ACSS2, MEG3, NEUROG3, LPAR3, LILRB1, PLA2G15, RET, SLC2A3, INSM1, GRN, FFAR1, GHRH, GAST, FGFR4, F3, EGFR, DHCR24, CSF1, CRH, CHGB, CD44, CCK, CALCA, VPS51, ATRX, ASS1, ASCL1, ANGPT2, HSF1, PDX1, SLC2A2, KIT, SLC2A1, SEA, SDHB, SDHA, AKT1, PYGM, PTH, PTEN, PPY, PTPA, PGR, PCYT1A, PCNA, NFKB1, NEUROD1, MUC1, SMAD4, STMN1, KRAS, H3P10

Neuroendocrine Tumor GARD

A neuroendocrine tumor (NET) is a rare type of tumor that arises from specialized body cells called neuroendocrine cells . ... Pancreatic neuroendocrine tumors (also called islet cell tumors) - NETs that typically arise in the pancreas, although they can occur outside the pancreas. A p heochromocytoma is another, rarer type of NET that usually develops in the adrenal gland , but can also arise in other parts of the body. ... Functional NETs produce a specific set of symptoms due to the production of excess hormones, while non-functional NETs generally do not cause specific symptoms. In many cases, a person has no symptoms until the tumor spreads to the liver and/or impairs the function of an organ or system. This can make NETs very hard to diagnose. The majority of NETs are not inherited and occur sporadically in people with no family history of NETs.

PRKAR1A, MEN1, CALCA, RUNX1T1, CDKN1B, CGA, CHGA, FN1, GAST, IGFBP3, PTH, RET, ADAM17, QRSL1, CDC73

Endocrine Gland Neoplasm Wikipedia

Endocrine gland neoplasm Specialty Oncology , endocrinology An endocrine gland neoplasm is a neoplasm affecting one or more glands of the endocrine system . Examples include: Adrenal tumor Pituitary adenoma The most common form is thyroid cancer . [1] Condition such as pancreatic cancer or ovarian cancer can be considered endocrine tumors, or classified under other systems. Pinealoma is often grouped with brain tumors because of its location. [ citation needed ] See also [ edit ] Multiple endocrine neoplasia References [ edit ] ^ "Thyroid cancer" . Archived from the original on 2007-12-20 . Retrieved 2007-12-22 . External links [ edit ] Classification D ICD - 10 : C73 - C75 D34 - D35 MeSH : D00470 v t e Overview of tumors , cancer and oncology Conditions Benign tumors Hyperplasia Cyst Pseudocyst Hamartoma Malignant progression Dysplasia Carcinoma in situ Cancer Metastasis Primary tumor Sentinel lymph node Topography Head and neck ( oral , nasopharyngeal ) Digestive system Respiratory system Bone Skin Blood Urogenital Nervous system Endocrine system Histology Carcinoma Sarcoma Blastoma Papilloma Adenoma Other Precancerous condition Paraneoplastic syndrome Staging / grading TNM Ann Arbor Prostate cancer staging Gleason grading system Dukes classification Carcinogenesis Cancer cell Carcinogen Tumor suppressor genes / oncogenes Clonally transmissible cancer Oncovirus Carcinogenic bacteria Misc. Research Index of oncology articles History Cancer pain Cancer and nausea v t e Tumours of endocrine glands Pancreas Pancreatic cancer Pancreatic neuroendocrine tumor α : Glucagonoma β : Insulinoma δ : Somatostatinoma G : Gastrinoma VIPoma Pituitary Pituitary adenoma : Prolactinoma ACTH-secreting pituitary adenoma GH-secreting pituitary adenoma Craniopharyngioma Pituicytoma Thyroid Thyroid cancer (malignant): epithelial-cell carcinoma Papillary Follicular / Hurthle cell Parafollicular cell Medullary Anaplastic Lymphoma Squamous-cell carcinoma Benign Thyroid adenoma Struma ovarii Adrenal tumor Cortex Adrenocortical adenoma Adrenocortical carcinoma Medulla Pheochromocytoma Neuroblastoma Paraganglioma Parathyroid Parathyroid neoplasm Adenoma Carcinoma Pineal gland Pinealoma Pinealoblastoma Pineocytoma MEN 1 2A 2B This article about a neoplasm is a stub .

Neuroendocrine Tumor Wikipedia

H&E stain Specialty Endocrine oncology Neuroendocrine tumors ( NETs ) are neoplasms that arise from cells of the endocrine ( hormonal ) and nervous systems . ... G1 and G2 neuroendocrine neoplasms are called neuroendocrine tumors (NETs) – formerly called carcinoid tumours. ... Unsourced material may be challenged and removed. ( November 2015 ) ( Learn how and when to remove this template message ) NETs from a particular anatomical origin often show similar behavior as a group, such as the foregut (which conceptually includes pancreas, and even thymus, airway and lung NETs), midgut and hindgut ; individual tumors within these sites can differ from these group benchmarks: Foregut NETs are argentaffin negative. ... Bone metastasis is uncommon. Hindgut NETs are argentaffin negative and rarely secrete 5-HT, 5-HTP, or any other vasoactive peptides. ... Not all cells are immediately killed; cell death can go on for up to two years. [ citation needed ] PRRT was initially used for low grade NETs. It is also very useful in more aggressive NETs such as Grade 2 and 3 NETs [83] [84] provided they demonstrate high uptake on SSTR imaging to suggest benefit.

MEN1, CDKN1B, SSTR2, DAXX, ATRX, BRAF, TYMS, PTHLH, SSTR3, SSTR1, BAP1, MTOR, SST, GAST, SLC6A2, INSM1, CTNNB1, RET, PIK3CA, DNMT3A, POMC, EPHB1, PIK3CG, PIK3CD, CHGA, ELK3, CHEK2, PIK3CB, GRN, CD274, SMUG1, AKT1, GNA12, TP53, SYP, VEGFA, CDKN2A, ASCL1, BCL2, ENO2, NCAM1, GCG, MYCN, EGFR, MGMT, KIT, RASSF1, VHL, SCLC1, SSTR5, FOLH1, NKX2-1, KRAS, CALCA, CCND1, TAC1, PTPRF, VIP, NTS, PAX5, RHBDF2, GRP, IGF1, SDHD, GOT1, MAP2K7, CCK, ERBB2, DLL3, PPY, CXCL12, TP63, SMAD4, MUC1, INS, GCGR, CKAP4, NEUROD1, ISL1, MYC, NGF, SATB2, GLP1R, HSP90AA1, H3P10, HRAS, CHGB, CALR, NTRK1, TEK, DLK1, CDK4, CDX2, TGFA, UCHL1, RPE65, PGR, PDGFRA, CARTPT, CRH, UVRAG, SLC5A5, CXCR4, IGF1R, OTP, IL6, PHLDA3, TTF1, PAX8, TACR1, STK11, TRIM21, PLA2G15, SCG2, SQLE, SLC18A2, TERT, HDAC9, SLC2A1, PROM1, BCL2L11, NTSR1, PAX6, NAMPT, NOCT, INA, PLCB3, CD200, MKI67, PDX1, MAPK1, NES, HPSE, PTEN, STMN1, ABO, RIPK1, RORC, RAF1, IL1B, TRPV1, GATA3, ANGPT2, FOXM1, PTK2B, SDHAF2, ACCS, BDNF, EPAS1, EGF, ACSS2, MIB1, DNMT1, CCN2, TRPM8, CLDN4, CPE, CD34, CD44, FLNA, CEACAM5, B3GAT1, GH1, GIP, GHSR, GIPR, ADCY2, ALB, H3P28, TPPP2, H4C5, GGH, MIR1290, TMEM209, ELOA3, H4C13, H4C14, GPR151, SRPX, LGR5, TNFSF11, PSMG1, DCBLD2, H4-16, NRP1, MRGPRX4, SOCS1, H4C2, MIR3137, MRGPRX3, TNFRSF25, H3P12, CYYR1, AZIN2, DNER, AK6, MLIP, LMLN, NRP2, GPR68, MIR1246, H4C8, MAFK, MIR150, MIR155, MBOAT4, H4C9, MIR21, POTEKP, VN1R17P, SNORD95, GPR166P, ARID1A, EID3, SLC7A5, MIR375, H4C15, FZD4, MIRLET7C, OXER1, H4C12, HMGA2, H4C3, ARX, ELOA3B, GPRC6A, H4C11, H4C6, C17orf97, POTEM, MRGPRX1, ARMH1, H4C1, GADL1, ACTBL2, H4C4, BRI3, SQSTM1, ISYNA1, GHRL, ACOT7, KLF12, KRT20, SLC27A4, TET2, BCOR, EBNA1BP2, RALBP1, PGRMC1, LAMTOR1, FBXW7, MEG3, MAML3, TMEM127, NTNG1, ATRAID, KHDRBS1, DCTN4, SNORD61, NUP62, SNORD48, NTSR2, LPAR3, MAPK8IP2, SRRM2, BRD4, TRAM1, SPINK4, XIST, PPWD1, RBMS3, SETD1B, ZHX2, TNFSF13B, USE1, MAK16, UBE2Z, ONECUT2, FHL5, GCM2, DCLK1, ZBED1, ARHGEF2, PALB2, ALG9, SNED1, TET1, PDCD1LG2, TMPRSS13, MTA1, RPAIN, H1-10, EEF1E1, LGR6, PRMT5, NEUROD4, YAP1, SCML2, LANCL1, PAK4, RABEPK, ZNF197, CTNNBL1, PNO1, INSL5, EPB41L5, HDAC5, AKT3, CD302, GBA3, DCAF1, ATAT1, SERPINA3, VCL, CGA, ESR1, ERBB4, EPHB2, E2F1, DUSP2, DSG3, DPT, DPP4, DMBT1, DDC, DAD1, VCAN, CREB1, CRABP1, KLF6, CLU, FOXN3, CEACAM7, CEACAM3, ESR2, ETFA, EZH2, GHRH, HSPA4, AGFG1, HMOX1, HMGA1, GTF2H1, GSN, GNAS, GNA15, GFRA1, F3, GDNF, FSHR, FLT4, FLII, FLI1, FOXO1, FHIT, FGFR4, CGB3, CFL1, UQCRFS1, CDKN2C, FAS, APRT, APLP1, XIAP, APC, SLC25A6, SLC25A4, ANGPT1, ALK, AKT2, AFP, PARP1, ADCYAP1R1, ADCYAP1, ACVRL1, ACTN4, ACTG2, ACTG1, ACR, AQP4, ARF1, ATM, CASP3, CDK6, CD40LG, CD36, CD33, CCNE1, CCKBR, SERPINA6, CAV1, CA9, ATOH1, VPS51, C5, BRS3, BRCA2, DST, BAX, AVP, ATP4A, HTC2, HTR2A, TNC, IAPP, SDC1, SCT, SORT1, RNASE3, RARB, PTPRZ1, PTPRM, PTBP1, PSMD7, PSG2, PRKAR1A, PPP4C, POU4F1, PNN, PKD2, PITX2, PCYT1A, SERPINA5, PAX4, SDCBP, SDHB, SDHC, ST2, UBE2I, TPM3, TPH1, TNF, TM7SF2, TERC, TAT, STAT3, SSTR4, SEMA3F, SSR2, SOX11, SOX4, SOX2, SLPI, SLC3A2, SLC1A5, SFRP1, PAK3, PAK1, TNFRSF11B, KIF11, MDK, MAOA, LCN2, RPSA, L1CAM, KRT19, KRT7, KRT5, IL12A, MET, IL9, CXCL8, IL2, IL1A, IGFBP1, IGF2, IFNA13, IFNA1, MDM2, MFAP1, ODC1, MUTYH, NTRK2, NT5E, NRAS, NOTCH3, NPY, NOTCH1, NFKB1, NEFM, MUC4, CD99, NUDT1, COX2, MTAP, MST1R, MST1, MSMB, MMP7, MLH1, PTPRC

Deafness, Autosomal Recessive 88 OMIM

A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-88 (DFNB88) is caused by homozygous mutation in the ELMOD3 gene (615427) on chromosome 2p11.

ELMOD3

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.

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.
Postural Orthostatic Tachycardia Syndrome Wikipedia

In one survey of 138 POTS patients, brain fog was defined as “forgetful” (91%), “difficulty thinking” (89%), and “difficulty focusing” (88%). Other common description was "Difficulty processing what others say" (80%), Confusion (71%), Lost (64 %), and "Thoughts moving too quickly" (40%) [31] The same survey described the most common triggers of brain fog to be fatigue (91%), lack of sleep (90%), prolonged standing (87%) and dehydration (86%). [ citation needed ] Neuropsychological testing has shown that a POTS-patient has reduced attention (Ruff 2&7 speed and WAIS-III digits forward), short-term memory ( WAIS-III digits back), cognitive processing speed ( Symbol digits modalities test ) and executive function ( Stroop word color and trails B ). [32] [33] [34] A potential cause for brain fog is a decrease in cerebral blood flow (CBF), especially in upright position. [35] [36] [37] Another theory is that interoception of excessive autonomic activity causes interoceptive prediction errors (PE) to occur. [38] A prediction error is the mismatch between a prior expectation and reality. [39] This would cause anxiety which then overwhelms the consciousness of pots-patient causing cognitive-affective symptoms. ... Food and Drug Administration to treat POTS, but a variety are used off-label . [12] Their efficacy has not yet been examined in long-term randomized controlled trials . [12] Fludrocortisone may be used to enhance sodium retention and blood volume, which may be beneficial not only by augmenting sympathetically-mediated vasoconstriction, but also because a large subset of POTS patients appear to have low absolute blood volume. [82] While people with POTS typically have normal or even elevated arterial blood pressure, the neuropathic form of POTS is presumed to constitute a selective sympathetic venous denervation. [82] In these patients the selective Alpha-1 adrenergic receptor agonist midodrine may increase venous return, enhance stroke volume, and improve symptoms. [82] Midodrine should only be taken during the daylight hours as it may promote supine hypertension. [82] Sinus node blocker Ivabradine can successfully restrain heart rate in POTS without affecting blood pressure, demonstrated in approximately 60% of people with POTS treated in an open-label trial of ivabradine experienced symptom improvement. [83] [84] [82] Pyridostigmine has been reported to restrain heart rate and improve chronic symptoms in approximately half of people. [12] The selective alpha-1 agonist phenylephrine has been used successfully to enhance venous return and stroke volume in some people with POTS. [85] However, this medication may be hampered by poor oral bioavailability. [86] Pharmacologic treatments for postural tachycardia syndrome POTS subtypes Therapeutic action Goal Drug(s) Neuropathic POTS Alpha-1 adrenergic receptor agonist Constrict the peripheral blood vessels aiding venous return. Midodrine [17] [87] [88] [89] Splanchnic–mesenteric vasoconstriction Splanchnic vasoconstriction Octreotide [90] [91] Hypovolemic POTS Synthetic mineralocorticoid Forces the body to retain salt.
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).

Neuroendocrine Neoplasm Of Esophagus Orphanet

A group of esophageal epithelial neoplasms characterized by neuroendocrine differentiation, comprising well-differentiated neuroendocrine tumors (NETs), poorly differentiated neuroendocrine carcinomas (NECs), and mixed neuroendocrine-non-neuroendocrine neoplasms, an umbrella category including mixed adenoneuroendocrine carcinoma. ... NECs may also arise in other parts of the esophagus. On endoscopy, NETs usually appear as small polypoid or nodular submucosal masses, while NECs are large, infiltrative, and ulcerated. Patients most commonly present with dysphagia, pain, weight loss, and sometimes melena. Metastatic NETs may be associated with carcinoid syndrome.

Mental Retardation, X-Linked 88 OMIM

Clinical Features Vervoort et al. (2002) reported 9 male patients with a mutation in the AGTR2 gene who had moderate to severe mental retardation. Five of the patients had seizures and, with the exception of 1 patient, they were not hypertensive. Two patients also showed autistic behavior. Cytogenetics Vervoort et al. (2002) analyzed a de novo balanced translocation 46,X,t(X;7)(q24;q22) in a female patient with moderate mental retardation. This patient had completely skewed X inactivation. They mapped the X-chromosome breakpoint and demonstrated by RT-PCR that the AGTR2 gene was silenced in this patient. History Vervoort et al. (2002) screened affected males from 33 families with possible X-linked MR but no definitive linkage data, and a large cohort of 552 unrelated male patients with MR of unknown cause but negative for the FMR1 expansion.

IQSEC2, DLG3, GDI1, PAK3, ACSL4, ARX, MECP2, RPS6KA3, HCFC1, IL1RAPL1, TSPAN7, FTSJ1, ZNF41, DMD, CNKSR2, MID2, AGTR2, UPF3B, CXorf56, FRMPD4, ALG13, SLC9A7, RAB39B, PTCHD1, ZNF81, MED12, ZNF711, ARHGEF6, SYP, CLCN4, USP27X, USP9X, ABCG2, FRAXE, AFF2, STS, OPHN1, ALAS2, POU3F4, SERPINA4, RPS6KA6, THOC2, ANOS1, FMR1, ELK1

Mental Retardation, X-Linked 63 OMIM

A number sign (#) is used with this entry because of evidence that X-linked mental retardation-63 can be caused by mutation in the ACSL4 (300157) gene. Clinical Features Raynaud et al. (2000) reported a 4-generation family with nonspecific nonsyndromic X-linked mental retardation. Affected males showed nonprogressive mental retardation ranging from severe to moderate, without seizures, whereas carrier females showed highly variable cognitive capacities, ranging from moderate mental retardation to normal intelligence. Mapping Raynaud et al. (2000) reported a 4-generation family with nonspecific nonsyndromic X-linked mental retardation mapped between DXS990 and DXS1227 (Xq21.33-q27.1) with a maximum lod at theta = 0.0 of 2.14 at DXS1001. Molecular Genetics In the proband of the family reported by Raynaud et al. (2000) as MRX63, Meloni et al. (2002) identified a mutation in the ACSL4 gene (300157.0001).
Mental Retardation, X-Linked 73 OMIM

Clinical Features Martinez et al. (2001) reported a 4-generation family in which 5 males had mild to moderate nonspecific mental retardation. Brain CT scan performed in 1 patient was normal. Inheritance The pedigree pattern in the family with mental retardation reported by Martinez et al. (2001) was consistent with X-linked inheritance. Mapping By typing of markers throughout the X chromosome in a 4-generation family with nonsyndromic mental retardation, Martinez et al. (2001) mapped the phenotype locus to a 2-cM interval between markers DXS8019 and DXS365 on chromosome Xp22.2. Molecular Genetics Exclusion Studies In a family with nonsyndromic mental retardation mapping to Xp22.2, Martinez et al. (2001) performed direct sequencing of the RSK2 gene (300075) but found no causal mutation. They concluded that another unidentified gene for X-linked mental retardation is located near RSK2.
Mental Retardation, X-Linked 104 OMIM

A number sign (#) is used with this entry because of evidence that X-linked mental retardation-104 (MRX104) is caused by mutation in the FRMPD4 gene (300838) on chromosome Xp22. Clinical Features Hu et al. (2016) reported a large family (P58) in which 5 males had mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems. They also reported an unrelated patient (L87) who presented at age 17 years with significant developmental delay, absence of speech, and autism spectrum disorder. Piard et al. (2018) reported follow-up of the patients reported by Hu et al. (2016) and identified 4 additional male patients from 2 additional unrelated families. Including the previous report, there were 10 affected males from 4 unrelated families with patients ranging from 4 to 66 years of age.
Mental Retardation, X-Linked 99 OMIM

A number sign (#) is used with this entry because of evidence that X-linked mental retardation-99 (MRX99) is caused by mutation in the USP9X gene (300072) on chromosome Xp11. Heterozygous mutation in the USP9X gene can also cause female-restricted X-linked syndromic mental retardation-99 (MRXS99F; 300968). Clinical Features Homan et al. (2014) reported 4 patients from 3 unrelated families with X-linked recessive mental retardation. The families were previously ascertained by Tarpey et al. (2009) in a large-scale study that resequenced coding exons of the X chromosome in patients with mental retardation. The patients showed developmental delay, hypotonia, and some behavioral abnormalities, such as aggression.
Mental Retardation, X-Linked 90 OMIM

A number sign (#) is used with this entry because X-linked mental retardation-90 (MRX90) is caused by mutation in the DLG3 (300189) gene on chromosome Xq13. Clinical Features Tarpey et al. (2004) reported 4 families in each of which at least 2 males had moderate to severe nonsyndromic X-linked mental retardation. Philips et al. (2014) reported 2 unrelated Finnish families with MRX90. Three affected males in 1 family (D172) had delayed psychomotor development with speech delay, mild to moderate intellectual disability, narrow thorax, molar hypoplasia, short and upslanting palpebral fissures, high-arched palate, and hypotonia. Five males in the second family (D301) had delayed motor and language development with moderate to severe mental retardation.
Mental Retardation, X-Linked 41 OMIM

A number sign (#) is used with this entry because this form of X-linked mental retardation, referred to as MRX41 or MRX48, is caused by mutation in the GDI1 gene (300104) on chromosome Xq28. Clinical Features Hamel et al. (1996) reported a family segregating mild to moderate mental retardation as an X-linked trait (MRX41). Des Portes et al. (1997) reported a large 3-generation family segregating nonspecific X-linked mental retardation (MRX48). The pedigree suggested X-linked semidominant inheritance: moderate to severe mental retardation was found in 7 males and milder intellectual impairment in 2 females, without any specific clinical, radiologic, or biologic features. Bienvenu et al. (1998) reported a large French family (family R) in which all affected males showed moderate to severe mental retardation.
Mental Retardation, X-Linked 21 OMIM

A number sign (#) is used with this entry because X-linked mental retardation-21 (MRX21) is caused by mutation in the IL1RAPL1 gene (300206) on chromosome Xp21. Description This form of nonsyndromic X-linked mental retardation is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderate mental retardation to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder deficits (summary by Piton et al., 2008). Clinical Features Kozak et al. (1993) reported a 3-generation Italian family in which 4 male patients had moderate mental retardation without any specific or consistent phenotypic abnormalities. One obligate female carrier had mild retardation and another 2 had normal intelligence, suggesting incomplete penetrance in females.
Mental Retardation, X-Linked 42 OMIM

Clinical Features Golla et al. (2002) reported a family in which 4 males had mild to moderate nonspecific X-linked mental retardation, with no intellectual impairment in their obligate carrier mothers. Mapping By linkage analysis in a family in which 4 affected males had nonsyndromic mental retardation, Golla et al. (2002) obtained the same multipoint lod score of 2.08 for 2 intervals on the X chromosome: one in the pericentromeric region and the other at Xq26. Since the responsible gene was not characterized, haplotyping was the only means available for carrier and prenatal testing for this form of MRX, which they designated MRX42. Carrier risk estimation using pedigree and haplotype data for 5 females at risk was presented, and the difficulties of prenatal diagnosis given linkage to 2 different regions was discussed.
Raynaud-Claes Syndrome OMIM

A number sign (#) is used with this entry because of evidence that Raynaud-Claes syndrome (MRXSRC) is caused by mutation in the CLCN4 gene (302910) on chromosome Xp22. Description Raynaud-Claes syndrome is an X-linked intellectual developmental disorder characterized by borderline to severe intellectual disability and impaired language development. Additional features include behavioral problems, psychiatric disorders, seizures (variable forms), progressive ataxia, brain abnormalities, and facial dysmorphisms. Some heterozygous females are unaffected, whereas others are affected with a severity spectrum similar to that seen in males (summary by Palmer et al. (2018)). Clinical Features Raynaud et al. (1996) reported a French family (MRX15) in which 5 males spanning 2 generations had nonsyndromic X-linked mental retardation.
Mental Retardation, X-Linked 1 OMIM

A number sign (#) is used with this entry because of evidence that X-linked mental retardation-1 (MRX1) is caused by hemizygous or heterozygous mutation in the IQSEC2 gene (300522) on chromosome Xp11. Clinical Features Suthers et al. (1988) reported a large family in which multiple males spanning several generations had nonsyndromic X-linked mental retardation. Two developed psychiatric problems and 1 had infrequent seizures. Carrier females were 'less academically able compared to their non-carrier sibs' (Shoubridge et al., 2010). Shoubridge et al. (2010) provided follow-up of a family with X-linked mental retardation reported by Gedeon et al. (1994) as MRX18. Affected males had moderate to severe intellectual disability, and some had seizures.
Mental Retardation, X-Linked 9 OMIM

A number sign (#) is used with this entry because this form of nonspecific X-linked mental retardation is caused by mutation in the FTSJ1 gene (300499). Clinical Features Nonspecific X-linked mental retardation (MRX) includes several distinct entities with mental retardation but without additional distinguishing features. Hamel et al. (1999) described a 4-generation family segregating X-linked mental retardation. Affected members had nonprogressive mental retardation noted during childhood, and several demonstrated aggressive behavior. The mental retardation in tested members of the family was moderate to severe; none of the patients was able to read, write, or solve simple arithmetic problems.
Tonne-Kalscheuer Syndrome OMIM

A number sign (#) is used with this entry because of evidence that Tonne-Kalscheuer syndrome (TOKAS) is caused by hemizygous mutation in the RLIM gene (300379) on chromosome Xq13. Description Tonne-Kalscheuer syndrome (TOKAS) is an X-linked recessive multiple congenital anomaly disorder with 2 main presentations. Most patients exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioral abnormalities, and abnormal gait. Affected individuals also have dysmorphic facial features that evolve with age, anomalies of the hands, feet, and nails, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death.
Mental Retardation, X-Linked 30 OMIM

A number sign (#) is used with this entry because this form of nonsyndromic X-linked mental retardation is caused by mutation in the gene encoding p21-activated kinase-3 (PAK3; 300142). Clinical Features Des Portes et al. (1997) reported a French family in which 6 males in 2 generations had nonsyndromic X-linked mental retardation. All affected males had moderate to severe mental retardation without seizures, statural growth deficiencies, or other physical abnormalities. Gedeon et al. (2003) reported an Australian family with nonsyndromic MRX affecting 19 males in 5 generations. Some of the patients had relatively long ears, but no other physical abnormalities.
Mental Retardation, X-Linked 105 OMIM

A number sign (#) is used with this entry because of evidence that X-linked mental retardation-105 (MRX105) is caused by mutation in the USP27X gene (300975) on chromosome Xp11. Clinical Features Hu et al. (2016) reported 2 unrelated families (D177 and L75) in which a total of 7 males had borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems. No additional clinical details were provided. Inheritance The transmission pattern of MRX105 in the families reported by Hu et al. (2016) was consistent with X-linked recessive inheritance. Molecular Genetics In 3 affected males from a family (D177) with MRX105, Hu et al. (2016) identified a hemizygous truncating mutation in the USP27X gene (300975.0001). An unrelated male patient (family L75) with MRX105 was found to carry a hemizygous missense mutation in the USP27X gene (Y381H; 300975.0002); 3 others males in this family were affected, but genetic studies were not performed.
Mental Retardation, X-Linked 19 OMIM

A number sign (#) is used with this entry because this form of X-linked mental retardation (MRX19) is caused by mutation in the RPS6KA3 gene (300075). Description X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS; 303600), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).
Mental Retardation, X-Linked 89 OMIM

Clinical Features Shoichet et al. (2003) reported a 7-year-old girl with severe developmental delay who had a de novo balanced chromosome rearrangement, t(X;7)(p11.3;q11.21). At age 2 years, she did not yet walk or speak, and she exhibited clearly delayed psychomotor development. At age 3 years 9 months, occasional convulsions, predominantly localized to the shoulders and upper back, were reported, which led to the diagnosis of myoclonic epilepsy. At age 5 years 6 months, her physical development was in the normal range. She had no dysmorphic features. Screening for inborn errors of metabolism resulted in no indication of amino acidopathies or organic acidurias.
Mental Retardation, X-Linked 95 OMIM

Clinical Features Molinari et al. (2008) reported an Australian family with nonsyndromic X-linked mental retardation. Of 5 sibs, there was 1 healthy girl, 2 girls with mild mental retardation, and 2 boys with severe mental retardation. The 2 affected males had a similar phenotype with the same degree of handicap. Both were in educational classes for the moderately handicapped and were able to hold a limited conversation; however, neither learned to read or write. Both were on disability pensions as adults. Their mother was described as slow and was found to carry the mutation.
Mental Retardation, X-Linked 81 OMIM

Clinical Features Annunziata et al. (2003) reported an Italian family in which 9 males in 2 generations had nonspecific moderate to severe mental retardation. Mapping In an Italian family in which 9 males in 2 generations had nonspecific mental retardation, Annunziata et al. (2003) found linkage of the disorder to the pericentromeric region of the X chromosome. Haplotype construction delineated an 8-cM critical region for the locus, which they designated MRX81, at Xp11.2-q12 between DXS1039 and DXS1216. Molecular Genetics Exclusion Studies Annunziata et al. (2003) excluded 2 candidate genes for MRX81: oligophrenin-1 (300127) and ephrin-B1 (300035). INHERITANCE - X-linked recessive NEUROLOGIC Central Nervous System - Mental retardation, moderate to severe MISCELLANEOUS - Based on a report of 9 affected males from one Italian family - No consistent features other than mental retardation - Obligate carrier females have normal intelligence ▲ Close
Mental Retardation, X-Linked 96 OMIM

A number sign (#) is used with this entry because of evidence that X-linked mental retardation-96 (MRX96) is caused by mutation in the SYP gene (313475). Clinical Features Tarpey et al. (2009) identified 4 families with X-linked mental retardation who had mutations in the SYP gene. In 3 families, all with truncating mutations, mental retardation was mild to moderate and there were no consistent additional features, although epilepsy was noted in some individuals. Female carriers had no manifestations. Molecular Genetics The SYP mutations found by Tarpey et al. (2009) in 4 unrelated families with mental retardation included 3 truncating mutations and a missense mutation (313475.0001-313475.0002). INHERITANCE - X-linked recessive NEUROLOGIC Central Nervous System - Mental retardation, mild to moderate - Epilepsy (in some patients) MOLECULAR BASIS - Caused by mutation in the synaptophysin gene (SYP, 313475.0001 ) ▲ Close
Chromosome Xp11.22 Duplication Syndrome OMIM

A number sign (#) is used with this entry because of evidence that the phenotype is caused by microduplications within a region of chromosome Xp11.22 (chrX:53.0-54.3 Mb) that involve the HSD17B10 (300256) and HUWE1 (300697) genes. Increased dosage of HUWE1 is believed to be responsible for the phenotype (Froyen et al., 2012). Point mutations in the HSD17B10 and HUWE1 genes have been found to cause syndromic forms of mental retardation, MRXS10 (see 300438) and MRXST (309590), respectively. Clinical Features Gedeon et al. (1994) reported a family in which 6 males spanning 3 generations had moderate mental retardation with slow speech development inherited in an X-linked pattern. No significant common dysmorphic features were noted. Donnelly et al. (1996) reported a 4-generation family with multiple males affected with global retardation that became apparent between ages 2 and 4 years.
Mental Retardation, X-Linked 45 OMIM

Clinical Features Hamel et al. (1999) described a 6-generation family segregating X-linked mental retardation. Affected members demonstrated nonprogressive mental retardation during childhood and had large, simple ears, relatively large hands, and normal behavior. The propositus also had clinodactyly of the fifth fingers and flat feet; findings in other affected individuals included short stature, high-arched palate, high nasal bridge, full lips, and large testes. The mental retardation in family MRX45 ranged from mild to severe: most affected members showed higher adaptive than intellectual functioning, and most could read, write, and solve simple arithmetic problems. Cytogenetics In a female patient with severe mental retardation and a de novo translocation t(X;9)(p11.23;q34.3), Kleefstra et al. (2004) characterized the breakpoints and found that the translocation disrupted the ZNF81 gene.
Mental Retardation, X-Linked 77 OMIM

Clinical Features Sismani et al. (2003) reported a Greek family with apparently nonsyndromic X-linked mental retardation. The affected males had moderate to severe mental retardation, severe speech problems, and aggressive behavior. Mapping Sismani et al. (2003) performed linkage analysis on a Greek family with apparently nonsyndromic X-linked mental retardation. Two-point linkage analysis with 26 polymorphic markers spanning the entire X chromosome allowed assignment of the causative gene to a 27-Mb interval in Xq12-q21.3. Molecular Genetics Exclusion Studies In affected members of a family segregating X-linked mental retardation, Sismani et al. (2003) performed DNA analysis of 3 known or candidate MRX genes from the Xq12-q21 region, OPHN1 (300127), ATRX (300032), and RSK4 (300303), and found no mutations.
Mental Retardation, X-Linked 46 OMIM

Clinical Features Yntema et al. (1998) reported a large Dutch family in which 12 males in 3 generations were affected with nonspecific X-linked mental retardation. Of 9 examined patients, 6 showed moderate mental retardation, and 1 each showed mild, severe, and profound mental retardation. Obligate female carriers were all normal. Mapping Linkage analysis of the family reported by Yntema et al. (1998) yielded a maximum lod score of 5.12 at HPRT between DXS8072 and DXS294 at Xq25-q26. Cytogenetics Kutsche et al. (2000) studied a male patient with severe mental retardation, mildly dysmorphic features, and sensorineural hearing loss who carried an apparently balanced X;21 translocation with breakpoints in Xq26 and 21p11. His unaffected mother carried the same translocation (von Ballestrem et al., 1996).
Mental Retardation, X-Linked 23 OMIM

Clinical Features Lehrke (1974) described a nonspecific form of X-linked mental retardation in a large kindred designated family 1. The pedigree was updated by Howard-Peebles and Roberts (1984). Affected males had lower verbal IQs than performance IQs. Several of the affected males had performance IQs above 80; however, because of the lower (12.3 points on average) verbal IQs, they were considered retarded. Mapping Gregg et al. (1996) mapped the gene for this form of X-linked mental retardation, designated MRX23, to Xq23-q24 by linkage studies in the large kindred (family 1) of Lehrke (1974). Multipoint linkage analysis gave a maximum lod score of 6.7 between markers DXS1220 and DXS424.
Mental Retardation, X-Linked 72 OMIM

A number sign (#) is used with this entry because of evidence that X-linked mental retardation-72 (MRX72) is caused by hemizygous mutation in the RAB39B gene (300774) on chromosome Xq28. Mutation in the RAB39B gene can also cause X-linked recessive mental retardation with early-onset Parkinson disease, known as Waisman syndrome (WSMN; 311510). Clinical Features Russo et al. (2000) reported a 3-generation Sardinian family segregating X-linked mental retardation. Three affected individuals had seizures and 1 had features of autism (see 209850). Giannandrea et al. (2010) reported a large family with X-linked mental retardation spanning 2 generations.
Mental Retardation, X-Linked 58 OMIM

A number sign (#) is used with this entry because nonsyndromic X-linked mental retardation-58 is caused by mutation in the TM4SF2 gene (TSPAN7; 300096) on chromosome Xp11. Clinical Features Holinski-Feder et al. (1999) described an Austrian family with nonsyndromic X-linked mental retardation. The 5 affected males in the family had mild to moderate mental retardation and no consistent dysmorphic features, while obligatory carrier females were normal. Mapping By linkage analysis in an Austrian family with nonsyndromic X-linked mental retardation, Holinski-Feder et al. (1999) mapped the disorder locus to an X pericentromeric location, with flanking markers DXS989 and DXS1111, with a maximum multipoint lod score of 2.09. Molecular Genetics In the affected family reported by Holinski-Feder et al. (1999), Abidi et al. (2002) identified a 2-bp deletion (300096.0003) in the TM4SF2 gene, resulting in a premature stop codon and truncated protein.
Mental Retardation, X-Linked 14 OMIM

Clinical Features Gendrot et al. (1994) reported a French family in which 9 persons had moderate mental deficiency and poor speech in 3 generations. Some of the patients had facial dysmorphism, epilepsy, and macroorchidism. Mapping By linkage analysis in a family segregating mental retardation, Gendrot et al. (1994) found no recombination between the disease locus, designated MRX14, and 2 loci: DXS255 at Xp11.22 (maximum lod = 3.31 at theta = 0) and PGKP1 at Xq11.2-q12 (maximum lod = 3.08 at theta = 0). In a note added in proof, Gendrot et al. (1994) stated that they had found a recombination with MAOB (309860) at Xp11.3, reducing the linkage interval to Xp11.3-q13.3. GU - Macroorchidism Neuro - Moderate mental deficiency - Poor speech - Epilepsy Facies - Facial dysmorphism Inheritance - X-linked ▲ Close
Iqsec2 GARD

IQSEC2 is a genetic condition that causes intellectual disability and sometimes other physical, neurological, or psychiatric symptoms. People with this condition can have seizures that are often difficult to control with medications. Other symptoms may include motor and language development delay, regression of learning abilities, autistic-like behavior, characteristic hand movements, and behavioral problems. Physical features may include abnormal head shape (plagiocephaly), very small head (microcephaly), reduced muscle tone (hypotonia), and crossed eyes (strabismus). This condition is caused by mutations in the IQSEC2 gene, which is located on chromosome X .
Mental Retardation, X-Linked 101 OMIM

A number sign (#) is used with this entry because of evidence that X-linked mental retardation-101 (MRX101) is caused by mutation in the MID2 gene (300204) on chromosome Xq22. One such family has been reported. Clinical Features Geetha et al. (2014) reported a large family from northern India in which 11 males spanning 3 generations had mental retardation. All 6 patients evaluated had global developmental delay. Facial dysmorphism was not prominent, but several patients had long face, prominent ears, and squint or strabismus. Two had seizures. Most also had hyperactivity, often with aggressive outbursts. Inheritance The transmission pattern in the family with MRX101 reported by Geetha et al. (2014) was consistent with X-linked recessive inheritance.
Mental Retardation, X-Linked 107 OMIM

A number sign (#) is used with this entry because of evidence that X-linked mental retardation-107 (MRX107) is caused by hemi- or heterozygous mutation in the CXORF56 gene (301012) on chromosome Xq24. One such family has been reported. Clinical Features Verkerk et al. (2018) reported a large 3-generation Dutch family in which 5 males and 1 female had mild to moderate intellectual disability. The patients had delayed development but were able to attend special schools, and some were able to work in a sheltered environment. Two males had significant behavioral problems, such as pervasive developmental disorder, attention disorder, hyperactivity, and transgressive behavior. The patients had variable dysmorphic facial features, including long, narrow face, prominent chin, upward slanting palpebral fissures, flat philtrum, narrow upper lip, and large ears with prominent cruxes.
Mental Retardation, X-Linked 92 OMIM

Clinical Features Lugtenberg et al. (2006) studied a family in which 6 males in 3 generations had moderate to severe nonsyndromic mental retardation in an X-linked pattern of inheritance (XLMR). The 17-year-old proband had an IQ of 45. His mother had normal intelligence. He was the second son of unrelated parents and had 1 affected brother, 3 healthy sisters, and 1 carrier sister with borderline intelligence. Mapping The family reported by Lugtenberg et al. (2006) segregating X-linked mental retardation had previously been studied (family T40) by Raynaud et al. (2000), who found evidence of linkage of mental retardation to Xp11.3. History In a family in which 6 males in 3 generations had moderate to severe nonsyndromic mental retardation in a pattern consistent with X-linked recessive inheritance, Lugtenberg et al. (2006) identified a 352G-T transversion in exon 6 of ZNF674 cDNA, predicted to result in a glu118-to-ter (E118X; 300573.0001) truncated protein containing the Kruppel-associated box domains but lacking the zinc finger domains, which are crucial for DNA binding.
Mental Retardation, X-Linked 97 OMIM

A number sign (#) is used with this entry because of evidence that this form of nonsyndromic X-linked mental retardation (MRX97) is caused by hemizygous mutation in the ZNF711 gene (314990) on chromosome Xq21. Clinical Features Yntema et al. (1999) reported a family (MRX65) in which 6 males in 3 generations had mild to moderate intellectual disability with speech delay. Four patients were obese. Van der Werf et al. (2017) provided follow-up of this family, noting that dysmorphic features included a broad face and prominent forehead. Van der Werf et al. (2017) reported another 4-generation family in which 5 males had mild to moderate intellectual disability, most often with motor delay and poor speech. Two had autistic features. Variable dysmorphic features included long face, synophrys, and relatively large ears.
Mental Retardation, X-Linked 82 OMIM

Clinical Features Martinez et al. (2004) described a Basque family in which 5 males in 4 sibships in 2 generations had nonsyndromic mental retardation. Mapping In a Basque family with nonsyndromic mental retardation, Martinez et al. (2004) found linkage to Xq24-q25 with a maximum lod score of 2.4. Haplotype studies and multipoint linkage analysis suggested a localization of the MRX82 locus to an interval of 7.6 Mb defined by markers DXS6805 and DXS7346, in Xq24 and Xq25, respectively. The linked interval contained the gene encoding glutamate receptor-3 (GRIA3; 305915), but mutation analysis showed no pathologic changes. INHERITANCE - X-linked recessive SKELETAL Spine - Kyphosis - Scoliosis NEUROLOGIC Central Nervous System - Mental retardation, mild to profound - Seizures (patient A) - Abnormal EEG (patient B) - Postnatal hypotonia (patient A) - Normal cerebral CT scan (patient A) Behavioral Psychiatric Manifestations - Autistic behavior (patient A) MISCELLANEOUS - Based on a report of an extended ethnically Basque family ▲ Close
Mental Retardation, X-Linked 84 OMIM

Clinical Features Zhang et al. (2004) reported a Chinese family in which 3 males in 3 generations had nonspecific X-linked mental retardation. The obligate carrier females were not affected. Mapping By 2-point linkage analysis, Zhang et al. (2004) demonstrated linkage of nonspecific mental retardation in a Chinese family to several markers located at Xq22.2, with a maximum lod score of 2.41 at theta = 0.0 for 2 adjacent markers (DXS1191 and DXS1230). Recombination events were observed with flanking markers DXS8080 and DXS456, located at Xp11.3 and Xq22.3, respectively, and a region of approximately 22.3 cM was defined. The localized region observed in this family overlapped with 29 other MRX loci previously reported in Xp11.3-q22.3. INHERITANCE - X-linked recessive GROWTH Height - Short stature HEAD & NECK Face - Broad forehead NEUROLOGIC Central Nervous System - Mental retardation, mild to moderate MISCELLANEOUS - No characteristic pattern of anomalies ▲ Close
Mental Retardation, X-Linked 2 OMIM

Clinical Features Proops et al. (1983) reported a Japanese family (family F) living in Hawaii with mental retardation in 3 generations. Affected males were mildly or moderately retarded, while a number of heterozygous females were mildly retarded. The affected males were relatively short with a large head, highly arched palate, square face, prominent ears, and large testicular volumes. Their speech was limited and characterized by repetitive phrases or inflections. Affected males and females were described as having a pleasant demeanor.
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related OMIM

A number sign (#) is used with this entry because this form of nonspecific X-linked mental retardation is caused by mutation in the ARX gene (300382) on chromosome Xp21. Description ARX-related mental retardation is a form of nonsyndromic X-linked mental retardation. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (EIEE1; 308350) to Partington syndrome (309510) (Kato et al., 2004; Wallerstein et al., 2008). Clinical Features Hamel et al. (1999) described a two 4-generation families (MRX43 and MRX52) segregating X-linked mental retardation. Affected members in family MRX43 had moderate to profound nonprogressive mental retardation recognized in early childhood.
Mental Retardation, X-Linked 53 OMIM

Clinical Features Ahmad et al. (2001) described a large Pakistani family with X-linked nonspecific mental retardation. Mapping By linkage analysis in a Pakistani family segregating nonsyndromic mental retardation, Ahmad et al. (2001) identified a novel disease locus, MRX53, located in a critical region spanning approximately 15 cM between DXS1210 and DXS1047 on Xq22.2-q26. A lod score of 3.34 at no recombination was obtained with markers DXS1072 and DXS8081. INHERITANCE - X-linked recessive NEUROLOGIC Central Nervous System - Mental retardation (IQ between 45-50) - Normal gross motor development MISCELLANEOUS - Based on a report of 8 affected males in one Pakistani family ▲ Close
Mental Retardation, X-Linked 50 OMIM

Clinical Features Claes et al. (1997) added 2 families to the growing list of nonspecific X-linked mental retardation (XLMR) families in which the disease gene could be mapped to a specific site on the X chromosome. The first family reported was designated MRX49 (300114). The second of these families, designated MRX50, contained 4 males in 2 generations showing moderate mental retardation. Mapping Linkage analysis in the MRX50 family by Claes et al. (1997) showed location of the locus at Xp11.3-p11.21 in the pericentromeric part of the short arm of the X chromosome, overlapping with a large number of other MRX gene regions: MRX1 (309530), MRX5, MRX7, MRX8, MRX9 (309549), MRX10, MRX11, MRX12 (300957), MRX13, MRX14 (300062), MRX15, MRX18, MRX22, MRX26, MRX31, and MRX38 (see 300419). Gedeon et al. (1996) hypothesized that all of the MRX assignments clustered on the pericentromeric part of Xp could be accounted for by 2 gene locations, namely the MRX1 and the MRX10 locations. Some of these families with pericentromeric gene locations show additional characteristic abnormalities and some of them show manifestations of disease in heterozygous carriers.
Mental Retardation, X-Linked 20 OMIM

Description Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' The Human Gene Mapping Nomenclature Committee (Mulley et al., 1992) proposed to designate each newly reported apparently unique X-linked mental retardation (MRX) family with gene symbols (e.g., MRX1, MRX2) if a minimal lod score of 2.0 was demonstrated between the MR locus and 1 or more X chromosome markers. Mapping Lazzarini et al. (1995) reported a family with MRX20. Fragile X syndrome was excluded cytogenetically and by absence of linkage to the Xq27.3 region. On the other hand, linkage studies using short tandem repeat polymorphism (STRP) markers indicated that the mutation is at a locus in the centromeric region of the X chromosome.

Familial Gastric Type 1 Neuroendocrine Tumor Orphanet

A rare neoplastic disease characterized by occurrence of atypical and aggressive gastric type 1 neuroendocrine tumors (NET) in early adulthood. The tumors often show nodal infiltration requiring total gastrectomy. ... Patients present high serum gastrin concentrations and iron-deficiency anemia (rather than megaloblastic anemia, which is a typical feature in patients with sporadic gastric type 1 NET, where the tumor usually arises on the background of autoimmune atrophic gastritis).

Appendix Cancer Wikipedia

Appendix cancer Other names Appendiceal cancer Specialty Oncology , general surgery Symptoms Bloating , discomfort in lower right abdomen , shortness of breath , loss of appetite [1] Usual onset ~50-55 years old [2] Types Colonic-Type Adenocarcinoma, Non-carcinoid Appendix Tumors, Signet-Ring Cell Adenocarcinoma [3] Risk factors Smoking , family history , Multiple endocrine neoplasia type 1 [4] Diagnostic method Biopsy , CT Scan , MRI [5] Differential diagnosis Acid reflux , Irritable bowel syndrome , Lactose intolerance , Stomach cancer [6] Treatment Appendectomy , chemotherapy , radiation therapy [7] Prognosis Five-year survival rate 25-88% (U.S.) [8] Frequency ~1,000 cases per year (U.S.) [9] Deaths Unknown Appendix cancer are very rare cancers of the vermiform appendix . ... A carcinoid is a neuroendocrine tumor (NET) of the intestines. Incidence rates among carcinoids occur at about .15 per 100,000 per year.

TWIST1, BRCA1, GNAS, KDR, KRAS, MDM2, VEGFA, SATB2

Malaria Wikipedia

The mosquitoes remain on the wall until they fall down dead on the floor. Insecticide treated nets [ edit ] A mosquito net in use. Mosquito nets help keep mosquitoes away from people and reduce infection rates and transmission of malaria. Nets are not a perfect barrier and are often treated with an insecticide designed to kill the mosquito before it has time to find a way past the net. Insecticide-treated nets are estimated to be twice as effective as untreated nets and offer greater than 70% protection compared with no net. [73] Between 2000 and 2008, the use of ITNs saved the lives of an estimated 250,000 infants in Sub-Saharan Africa. [74] About 13% of households in Sub-Saharan countries owned ITNs in 2007 [75] and 31% of African households were estimated to own at least one ITN in 2008. ... That number increased to 20.3 million (18.5%) African children using ITNs in 2007, leaving 89.6 million children unprotected [76] and to 68% African children using mosquito nets in 2015. [77] Most nets are impregnated with pyrethroids , a class of insecticides with low toxicity . ... According to the WHO and UNICEF, deaths attributable to malaria in 2015 were reduced by 60% [77] from a 2000 estimate of 985,000, largely due to the widespread use of insecticide-treated nets and artemisinin-based combination therapies. [74] In 2012, there were 207 million cases of malaria.

ICAM1, FCGR2B, HBB, CD36, NOS2, FCGR2A, TNF, CR1, G6PD, CRP, HP, ACKR1, GYPA, SLC4A1, GYPB, NCR3, TIRAP, GYPC, LTBR, CISH, IFNG, HMOX1, PKLR, ABO, ANK1, AQP4, ATP2B4, HBG2, CYTB, ENOSF1, MSMB, MST1, ZNF536, LINC00944, SMARCB1, DHODH, PDR, TREML4, ZNF804A, OR51F1, OR51B5, CDH13, PROCR, SPATA3, OR51N1P, DHFR, DDT, RECQL4, FAM155A, IGHG3, IL4, MMP26, IL6, IL10, TLR9, HLA-DRB1, CSMD1, HBE1, DNAJC5, TMPRSS13, KLHL3, HDGFL2, TLR4, ATAD1, LMLN, TENM3-AS1, MECP2, POMGNT2, MBL2, TFRC, TGFB1, MIF, HLA-B, HAMP, DHPS, SERPINA3, TLR2, IL1B, FOXP3, FHL5, ACOT7, POTEKP, POTEM, GEM, KIR3DL1, RN7SL263P, ACTG2, ACTG1, ACTB, ACTBL2, HBA2, CYP2B6, HSPA4, LSAMP, TRAP, FCGR3B, HSP90AA1, IL1A, LAMP3, CD81, OR10A4, CCL5, ABCB1, FAS, CD40LG, TEP1, CXCL8, IARS1, HLA-G, CTLA4, HBA1, INSRR, ANGPT2, TYMS, CFH, GSTP1, IFNAR1, AGT, GYPE, FCGR3A, TXN, IL13, HSPB3, APOE, MTCO2P12, ISYNA1, FCGR2C, FYB1, VDR, HLA-A, GSTM1, GSR, ATR, MBL3P, LAIR1, PNP, IL12B, MNAT1, IL1RN, CYP2D6, IGF1, CD55, ACHE, DECR1, COX2, IL3, CCL2, MAPK1, NLRP3, FBXW7, HAVCR2, THBD, VPS51, EMP1, ITGA2B, PTGS2, ANC, IL10RA, XPO1, VNN1, PLEK, UMPS, IL2, IL2RA, TPPP, VWF, ISG20, ADAMTS13, IRF1, IL7R, AIMP2, IL12RB1, CLEC11A, METAP2, CDK5R1, ING1, IL18R1, PGD, HAP1, H6PD, PRDX5, GRAP2, CXCL9, MMP9, MPO, TAP1, CCL4L2, COX1, EBI3, ITGAX, COX3, TLR6, CXCL11, MTHFR, NFKB2, NFYA, NOS1, TBC1D9, ORC1, MCF2, AKAP13, RNF19A, TLR7, NT5C3A, IRAK4, KIR2DS1, CCL4, KIR3DL2, ICOS, COQ2, PSIP1, PECAM1, TPT1, RNASE3, ARTN, TP53, POLDIP2, PDCD1, TLR1, AHSA1, UBL4A, AQP3, AGRP, H3C9P, CYP2C8, CYP2C19, GTF2H4, CRK, RNA18SN5, ANXA2, H3P37, CASP1, NANP, CCL4L1, MAPK14, CXCR3, GNAS, GLO1, FCN2, SMIM10L2B, FKBP4, CD27, FOXO3, RBM45, HM13, IL33, HK1, CCR5, IFNA13, IFNA1, H3P42, DNAJB1, CHIT1, CYP3A4, SMIM10L2A, EGF, CHI3L1, CAT, EPHA2, NSFL1C, ADRB2, MYMX, COX8A, GAPDH, ABCB6, NR1I3, TREML1, PUM3, FMN1, TICAM2, TRIM13, BMS1, FZD4, RABEPK, LANCL1, FUT9, TNFSF13B, DCTN6, CXCR6, ARL6IP5, MRGPRX1, ZNRD2, ASPM, KAT5, RAB7B, CIB1, SEMA3C, ARMH1, STING1, CFDP1, CPQ, MYLK4, DLC1, AKR1A1, PIEZO1, TMPRSS11D, HDAC9, CARTPT, DEFB4B, TIMELESS, SPHK1, TMED7-TICAM2, PSC, VNN2, PROM1, UPK3B, H3P23, H3P28, TNFRSF11A, TNFRSF18, TP63, PDXK, CNTNAP1, DHX16, STK24, H3P19, LOH19CR1, WASHC1, WASH6P, LPAR2, MIR146A, APOBEC3B, SPAG6, CLOCK, ATG5, MIR142, AIM2, ABCG2, PCSK9, MIR155, NCF1, PPIG, MIR29A, VN1R17P, GPR166P, CD163, MIR451A, CXADRP1, ARHGEF2, CERS1, SPINK5, MASP2, GEMIN4, ACD, TLR8, MPPE1, MCPH1, HSPA14, RNF34, TMED7, ARMC9, PPP1R2C, IL22, TRAF3IP2, A1CF, PDCD1LG2, SLC44A4, SGSM3, MCAT, HPGDS, B3GAT1, ROPN1L, PHGDH, RAB14, IL23A, ABCG4, IFIH1, CFC1, BTNL2, MARCHF1, POLE4, CMC2, TMED9, ACKR3, PDXP, RHOF, AICDA, POLD4, RBM25, TOLLIP, TREM1, LGR6, ADA2, BACH2, ERAP1, GOLPH3, PARS2, KRT88P, TRIM5, IL17RE, CHP1, GPR151, NRSN1, EIF5AL1, CD160, APCDD1, ERFE, OXER1, DNAJB1P1, DSTN, GPRC6A, CCNI, ADIRF, EBNA1BP2, TMED2, EHD1, RNPS1, HPSE, SEPTIN9, SCLT1, NT5C2, SLC25A21, LEO1, NLRP12, TIMD4, CDCA5, DBA2, CARD16, PTPMT1, CGAS, RAB39B, TADA1, MRGPRX3, MRGPRX4, PGLS, PANX1, SPO11, LPAR3, CBX5, POFUT2, SPPL3, NBEAL2, LUC7L, PTPRC, FGF23, EIF5, FLT3LG, FLT1, FECH, FBN2, FBN1, FANCD2, F3, EPO, ENO2, ADGRE1, ELK4, ELF4, EIF5A, EIF4G2, CXADR, EGR3, EDNRA, EDN1, S1PR3, RCAN1, ATN1, DNMT1, DEFB4A, DHX9, ACE, DBP, CYP1A2, CYC1, GABPA, GCHFR, GDF1, GPR42, IL4R, IL1R1, IGFBP1, IFNGR1, IFNB1, IFNA2, IFI27, IDE, HTN3, HSPA9, HSD11B1, HRES1, HPRT1, HPR, HPGD, HMGB1, HLA-DOA, UBE2K, HGF, SERPIND1, HBG1, GTF3A, GSTT1, GSN, GPX1, GPT, GRK5, CYBB, CTSL, IL9, ANXA1, C3, BSG, BRS3, BRCA2, PRDM1, BCL2, BAX, ASPA, ASIP, ARR3, NUDT2, ANXA7, ANXA4, ANPEP, CSH2, AMBP, ALOX5, ALB, AHR, AFP, ADSL, ADRA2B, ADRA1A, ADORA2A, ADH1B, ADA, ACP1, ACACA, CAST, CASR, CD1B, CD1C, CSH1, CSF1R, CSF1, CS, CRYZ, CREM, CR2, CLDN4, CPB1, CNTF, CCR4, CLU, ERCC8, CTSC, CEL, CDC25C, CD69, CD68, CD40, ENTPD1, CD34, CD28, CD19, CD14, CD9, CD1E, CD1D, IL5, IL12A, FOSL1, SELE, SPTA1, SPP1, SPINK1, SPG7, SOD3, SOD1, SMN1, SLC16A1, SLC11A1, SLC6A7, SLC2A1, SGCG, SET, SEA, ABCA1, SDC1, CXCL5, CCL22, CCL18, CCL3L1, CCL3, CCL1, SAFB, SORT1, RPS19, RBP2, RANBP2, PEX19, SSR2, SSTR4, DENND2B, STAT6, DDX39B, PRRC2A, PFBI, RAB7A, CXCR4, MOGS, ZBTB16, TRPV1, VCP, USP1, TYRP1, TTR, TTPA, TRPC1, TRP-AGG2-5, TPO, TPH1, TNFRSF1B, TLR3, TGFB2, TRBV20OR9-2, TCN2, HNF1A, TADA2A, ADAM17, TAC1, STK3, PTPRH, PTHLH, IL15, KIR3DS1, MAL, MAF, LTB, LTA, LMAN1, LEPR, LDLR, LCN2, LBR, RPSA, LAG3, KRT13, KNG1, KIR2DS5, PSMD9, KIR2DL3, KIR2DL2, KDR, KCNG1, KARS1, ITPA, ITGB2, ITGAM, ITGAL, CXCL10, IDO1, ILF3, IL18, MAP2, MAP6, MEFV, MVD, PSMD7, PSMD2, PSMB9, PSEN1, PSAP, PRSS1, PROC, MAP2K1, PRKG1, PRKAR1A, PPP1R1A, PPARG, SEPTIN4, PLP1, PGM1, PGAM1, P2RX7, SLC22A18, TNFRSF11B, OMD, ODC1, NOS3, NQO2, NFE2L2, NEK2, MYD88, MYC, H3P5

Malaria, Susceptibility To OMIM

A reduction in mortality greater than that attributable directly to malaria had been observed after the prevention of malaria by insecticides, chemoprophylaxis, and insecticide-impregnated bed nets. Previous observations that direct malaria mortality cannot account for observed hemoglobin S gene frequencies suggest that the findings of this study may apply equally to other malaria resistance genes. ... Although the relative strength of the protection is less than that of the sickle-cell variant, the greater frequency of the DQB1 (see HLA-DQB1; 604305) polymorphism makes the net effect on resistance to malaria comparable.
Malaria Orphanet

A life-threatening parasitic disease caused by Plasmodium ( P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.
Malaria GARD

Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly. Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired.
Malaria Mayo Clinic

To reduce malaria infections, world health programs distribute preventive drugs and insecticide-treated bed nets to protect people from mosquito bites. The World Health Organization has recommended a malaria vaccine for use in children who live in countries with high numbers of malaria cases. Protective clothing, bed nets and insecticides can protect you while traveling. ... Sprays containing permethrin are safe to apply to clothing. Sleep under a net. Bed nets, particularly those treated with insecticides, such as permethrin, help prevent mosquito bites while you are sleeping.

Abdominal Obesity Wikipedia

Ghroubi et al. (2007) concluded that a high abdominal circumference is associated with great functional repercussion. [37] Causes [ edit ] Diet [ edit ] See also: Diet and obesity The currently prevalent belief is that the immediate cause of obesity is net energy imbalance—the organism consumes more usable calories than it expends, wastes, or discards through elimination . ... The absolute waist circumference 102 centimetres (40 in) in men and 88 centimetres (35 in) in women and the waist-hip ratio (>0.9 for men and >0.85 for women) [55] are both used as measures of central obesity. ... Journal of Clinical Endocrinology and Metabolism . 88 (11): 5452–5455. doi : 10.1210/jc.2002-021808 . ... "Resistin and type 2 diabetes: regulation of resistin expression by insulin and rosiglitazone and the effects of recombinant resistin on lipid and glucose metabolism in human differentiated adipocytes" . J. Clin. Endocrinol. Metab . 88 (6098–6106): 6098–106. doi : 10.1210/jc.2003-030898 . ... Endocrine Updates . 4. 30 . Springer. pp. 355–365. doi : 10.1007/978-1-4419-7034-3_17 .

EIF2S3, HSD11B1, USP8, PWRN1, SNORD115-1, PWAR1, RNPC3, MAGEL2, NPAP1, MKRN3-AS1, DYRK1B, AIP, HERC2, CUL4B, MKRN3, SNRPN, NDN, MTTP, LIPE, IPW, SNORD116-1

Xh Antigen OMIM

The Xh antigen was first described by Bundschuh (1966), who suggested X-linkage because the antigen is more frequent in women (97%) than in men (88%). The antigen is demonstrated with antiserum produced by injecting rabbits with pooled serum from healthy women and absorption of the immune serum with selected male sera.

Lichenoid Trikeratosis Wikipedia

"Lichenoid tri-keratosis (Kaposi-Bureau-Barrière-Grupper)". Dermatologica . 148 (3): 179–88. doi : 10.1159/000251619 . PMID 4836959 .

Rectal Pain Wikipedia

Emerg. Med. Clin. North Am . 14 (4): 757–88. doi : 10.1016/S0733-8627(05)70278-9 . ... Pelvic Floor Disorders: Imaging and Multidisciplinary Approach to Management . Springer. pp. 601–603. ISBN 978-88-470-1542-5 . External links [ edit ] Classification D ICD - 9-CM : 569.42 v t e Pain By region/system Head and neck Headache Neck Odynophagia (swallowing) Toothache Respiratory system Sore throat Pleurodynia Musculoskeletal Arthralgia (joint) Bone pain Myalgia (muscle) Acute Delayed-onset Neurologic Neuralgia Pain asymbolia Pain disorder Paroxysmal extreme pain disorder Allodynia Chronic pain Hyperalgesia Hypoalgesia Hyperpathia Phantom pain Referred pain Congenital insensitivity to pain congenital insensitivity to pain with anhidrosis congenital insensitivity to pain with partial anhidrosis Other Pelvic pain Proctalgia Back Low back pain Measurement and testing Pain scale Cold pressor test Dolorimeter Grimace scale (animals) Hot plate test Tail flick test Visual analogue scale Pathophysiology Nociception Anterolateral system Posteromarginal nucleus Substance P Management Analgesia Anesthesia Cordotomy Pain eradication Related concepts Pain threshold Pain tolerance Suffering SOCRATES Philosophy of pain Cancer pain Drug-seeking behavior

Squamous Cell Papilloma Wikipedia

"Squamous papilloma of the urinary tract" . Cancer . 88 (7): 1679–1686. doi : 10.1002/(SICI)1097-0142(20000401)88:7<1679::AID-CNCR23>3.0.CO;2-K . ^ Elsevier Inc. (1994).

CCND1, CDKN1A, NQO1, EGFR, ERBB2, HRAS, ODC1, PTGS2, SOD2, SPRR1A, TGFA, TGFB1, TP53, KRT14, KRT15, SFRP4

Leishmaniasis Wikipedia

Leishmaniasis Other names Leishmaniosis Cutaneous leishmaniasis in the hand of a Central American adult Pronunciation Leishmaniasis / ˌ l iː ʃ m ə ˈ n aɪ ə s ɪ s / leishmaniosis / l iː ʃ ˌ m eɪ n i ˈ oʊ s ɪ s , - ˌ m æ n i -/ [1] Specialty Infectious disease Symptoms Skin ulcers , fever , low red blood cells , enlarged liver [2] [3] Causes Leishmania parasites spread by sandflies [2] Prevention Bug nets , insecticide [2] Frequency 4–12 million [4] [5] Deaths 24,200 (2015) [6] Leishmaniasis is a disease caused by parasites of the Leishmania type. [2] It is spread by the bite of certain types of sandflies , and occurs most frequently in the tropics and sub-tropics of Africa, Asia, the Americas, and southern Europe. [2] The disease can present in three main ways: cutaneous , mucocutaneous, or visceral . [2] The cutaneous form presents with skin ulcers, while the mucocutaneous form presents with ulcers of the skin, mouth, and nose. The visceral form starts with skin ulcers and later presents with fever, low count of red blood cells, and enlarged spleen and liver. [2] [3] Infections in humans are caused by more than 20 species of Leishmania . [2] Risk factors include poverty , malnutrition , deforestation , and urbanization . [2] All three types can be diagnosed by seeing the parasites under microscopy. [2] Additionally, visceral disease can be diagnosed by blood tests. [3] Leishmaniasis can be partly prevented by sleeping under nets treated with insecticide . [2] Other measures include spraying insecticides to kill sandflies and treating people with the disease early to prevent further spread. [2] The treatment needed is determined by where the disease is acquired, the species of Leishmania , and the type of infection. [2] Some possible medications used for visceral disease include liposomal amphotericin B , [7] a combination of pentavalent antimonials and paromomycin , [7] and miltefosine . [8] For cutaneous disease, paromomycin, fluconazole , or pentamidine may be effective. [9] About 4 to 12 million people are currently infected [4] [5] in some 98 countries. [3] About 2 million new cases [3] and between 20 and 50 thousand deaths occur each year. [2] [10] About 200 million people in Asia, Africa, South and Central America, and southern Europe live in areas where the disease is common. [3] [11] The World Health Organization has obtained discounts on some medications to treat the disease. [3] It is classified as a neglected tropical disease . [12] The disease may occur in a number of other animals, including dogs and rodents . [2] Contents 1 Signs and symptoms 2 Cause 2.1 Vector 2.2 Organisms 2.3 Risk factors 3 Diagnosis 4 Prevention 5 Treatment 6 Epidemiology 7 History 8 Society and culture 9 Research 10 See also 11 References 12 External links Signs and symptoms [ edit ] Cutaneous leishmaniasis ulcer The symptoms of leishmaniasis are skin sores which erupt weeks to months after the person is bitten by infected sand flies. ... Prevention [ edit ] Using insecticide can reduce phlebotomine sandfly numbers which in turn reduces the risk of cutaneous leishmaniasis infection. [18] Leishmaniasis can be partly prevented by using nets treated with insecticide while sleeping. [2] To provide good protection against sandflies, fine mesh sizes of 0.6 mm or less are required, but a mosquito net with 1.2mm mesh will provide a limited reduction in the number of sandfly bites. [19] Finer mesh sizes have the downside of higher cost and reduced air circulation which can cause overheating. Many Phlebotomine sandfly attacks occur at sunset rather than at night, so it may also be useful to put nets over doors and windows or to use insect repellents . ... The American Journal of Tropical Medicine and Hygiene . 88 (1): 157–61. doi : 10.4269/ajtmh.2012.11-0717 .

TNF, IFNG, IL10, IL6, ARG1, IL18, CRP, TNFRSF18, MCL1, HSPA4, IL1B, SLC11A1, CXCL10, NLRP3, IL17A, TLR2, CCR5, TLR4, IL32, PRDX2, LEP, TGFB1, CD274, FCN2, CD163, MTOR, HM13, IL4, BCL2, BAX, LMLN, IGF1, HIF1A, ANXA1, VDR, UNG, TAM, NR0B2, EZR, ADA, TLR3, STAT1, MAPK3, MAPK4, EIF2AK2, PSG5, PSMD7, PTHLH, PTPN1, PTPN2, PTPN6, RPA1, RPS6, CCL2, CCL8, CXCL11, SLC1A5, SLC1A7, SNAP25, SOAT1, SPP1, TP63, EIF2S2, CDK5R1, GOPC, FOXP3, HSPA14, CD244, TOLLIP, FBLIM1, MSTO1, FBXW7, ACSS2, PDXP, SLC52A2, ALDH1A2, TMPRSS13, DCLK3, IL33, CDCA5, PWAR1, ARMH1, HNP1, CCR2, UPK3B, DLL1, SGSM3, NOX1, PABPC1, NR1I2, SPHK1, EIF2B4, EIF2B2, PRKAB1, HSPB3, SLC7A6, ARHGEF2, AIM2, H6PD, RABEPK, LANCL1, TNFSF13B, EBNA1BP2, CD160, GABARAPL2, GABARAPL1, PRDX5, POLR1A, MAPK1, NOS2, PRKAA2, PRKAA1, CST3, CTLA4, CTSB, CTSL, CYP51A1, DDT, DHFR, DPAGT1, DPP4, DSPP, DUSP4, EEF1B2, EEF2, EGFR, EIF2B1, F2R, FCGR2A, FECH, FLI1, CPB1, CCR7, LRBA, ATR, AKT1, ALDH1A1, APEX1, APRT, AQP1, ATM, ATP2A3, ATP2B4, PRDM1, CD69, BRCA1, CAPN1, CD1A, CD28, CD86, CD40, CD40LG, CD44, FPR2, G6PD, GAPDH, CYTB, MNAT1, CD200, MPG, MPL, MPST, MRC1, MSMB, MST1, AHR, MFAP1, PAEP, PHB, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PLP1, PNOC, MAP3K10, MBL2, GCHFR, IFNB1, GCK, GTF3C1, HLA-C, HMOX1, HSPD1, IFN1@, IFNA1, IFNA13, IL1A, LTA, IL9, IL12A, IL12RB1, IL13, ITGA4, ITGAL, JAK2, RPSA, H3P28

Kala-Azar, Susceptibility To, 1 OMIM

Clinical Features Kala-azar, also known as visceral leishmaniasis, is a life-threatening protozoal disease caused by Leishmania parasites (L. donovani, L. chagasi, and L. infantum). It is prevalent in Africa, South America, Asia, and the Mediterranean basin. Epidemics occur periodically, killing a large number of infected individuals. Bucheton et al. (2003) performed a longitudinal study in a population during an outbreak of kala-azar in a Sudanese village during 1995-2002. Sera epidemiologic surveys showed that almost all of the population had been exposed to infection and that 25% of inhabitants had been affected by kala-azar.
Leishmaniasis GARD

Leishmaniasis is a parasitic disease spread by the bite of infected sand flies. There are several different forms of leishmaniasis. The most common are cutaneous and visceral. The cutaneous type causes skin sores. The visceral type affects internal organs such as the spleen, liver and bone marrow. People with this form usually have fever, weight loss, and an enlarged spleen and liver. Visceral disease can be deadly without proper treatment. Leishmaniasis is found in parts of the Middle East, Central America, South American, Asia, Africa, and southern Europe.
Leishmaniasis Orphanet

A parasitic disease caused by different species of the genus Leishmania , transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).

Lichen Verrucosus Et Reticularis Wikipedia

"Lichenoid tri-keratosis (Kaposi-Bureau-Barrière-Grupper)". Dermatologica . 148 (3): 179–88. doi : 10.1159/000251619 . PMID 4836959 .

Morel's Ear Wikipedia

Haeberle, "'Stigmata of Degeneration': Prisoner Markings in Nazi Concentration Camps," Journal of Homosexuality , vol. 6, 1980/81, 135-139, available online Archived 2011-04-21 at the Wayback Machine , accessed January 3, 2012 ^ Patrick Alexander, Marcel Proust's Search for Lost Time: A Reader's Guide (), 88, availbel online , accessed January 3, 2012 This medical sign article is a stub .

Endogenous Infection Wikipedia

Springer Science & Business Media. p. 64. ISBN 978-88-470-2242-3 . ^ Laura Ester Ziady; Nico Small (December 2005).

Accelerated Tumor Formation, Susceptibility To OMIM

They demonstrated that SNP309 was associated with accelerated tumor formation in both hereditary and sporadic cancers in humans. Bond et al. (2004) studied 88 individuals who were members of Li-Fraumeni syndrome (LFS1; 151623) families and had germline mutations in 1 allele of p53. The frequency of SNP309 in these individuals was similar to that found in the 50 normal volunteers. Of the 88 individuals in the Li-Fraumeni cohort, 66 were diagnosed with at least 1 cancer at a median age of 22 years old.

MDM2