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Infantile Liver Failure Syndrome 2 OMIM

A number sign (#) is used with this entry because of evidence that infantile liver failure syndrome-2 (ILFS2) is caused by homozygous or compound heterozygous mutation in the NBAS gene (608025) on chromosome 2p24. ... Molecular Genetics In 5 unrelated German patients with ILFS2, Haack et al. (2015) identified homozygous or compound heterozygous mutations in the NBAS gene (see, e.g., 608025.0002-608025.0006). The mutations, which were found by whole-exome sequencing, segregated with the disorder in the families with available data. Screening of the NBAS gene in 15 additional unrelated patients with acute liver failure identified biallelic NBAS mutations in 6 patients from 5 families. ... Patient fibroblasts showed a reduction of NBAS levels to 18 to 36% of control values, indicating a substantial impairment of protein translation and/or stability. ... INHERITANCE - Autosomal recessive ABDOMEN Liver - Liver failure, acute, episodic Gastrointestinal - Vomiting during episodes SKIN, NAILS, & HAIR Skin - Jaundice during episodes NEUROLOGIC Central Nervous System - Lethargy during episodes METABOLIC FEATURES - Hypoglycemia during episodes HEMATOLOGY - Coagulopathy during episodes LABORATORY ABNORMALITIES - Elevated liver enzymes during episodes - Hyperammonemia during episodes MISCELLANEOUS - Onset in the first years of life - Recurrent episodes of liver failure during intercurrent infections - Complete recovery during intervals MOLECULAR BASIS - Caused by mutation in the neuroblastoma-amplified sequence gene (NBAS, 608025.0002 ) ▲ Close

NBAS, MARS1
- Fever-Associated Acute Infantile Liver Failure Syndrome Orphanet
  
  A rare genetic parenchymatous liver disease characterized by infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice, as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment.
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly OMIM

A number sign (#) is used with this entry because of evidence that short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome) is caused by homozygous mutation in the NBAS gene (608025) on chromosome 2p24. ... Molecular Genetics In 33 Yakut patients from 30 families with short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome) mapping to chromosome 2p24.3, Maksimova et al. (2010) analyzed 2 candidate genes and identified homozygosity for a missense mutation in the NBAS gene (R1914H; 608025.0001) that segregated with disease. ... INHERITANCE - Autosomal recessive GROWTH Height - Postnatal growth failure HEAD & NECK Head - Brachycephaly Face - Long face - Senile-appearing face - Narrow forehead - Prominent glabella - Hypoplastic cheekbones - Small facial features - Facial asymmetry - Long philtrum Eyes - Thick eyebrows - Bushy eyebrows - Small orbits - Exophthalmos, bilateral - Epicanthus - Optic nerve atrophy, bilateral - Decreased visual acuity, nonprogressive - Achromatopsia, complete or incomplete - Myopia (in some patients) - Strabismus (in some patients) - Hypertelorism (in some patients) - Hypermetropia (rare) - Pigmented nevus (rare) Nose - Straight nose Mouth - Thin lips Neck - Short neck GENITOURINARY Internal Genitalia (Female) - Uterine hypoplasia (in some patients) SKELETAL - Delayed bone age (in some patients) Skull - Brachycephaly - Hypoplasia of frontal tubers - Hypoplasia of parietal tubers Limbs - Micromelia Hands - Brachydactyly - Hypermobility of small joints - Simian crease (in some patients) - Syndactyly (rare) Feet - Brachydactyly - Hypermobility of small joints - Wide feet - High arch - Sandal gap - Wide hallux SKIN, NAILS, & HAIR Skin - Loose skin - Decreased turgor of skin Hair - Fine hair MUSCLE, SOFT TISSUES - Muscular hypotonia NEUROLOGIC Central Nervous System - Normal intellectual function VOICE - High voice with harsh timber HEMATOLOGY - Hypolobulation of granulocyte nuclei (Pelger-Huet anomaly) MOLECULAR BASIS - Caused by mutation in the neuroblastoma-amplified sequence gene (NBAS, 608025.0001 ) ▲ Close

NBAS
- Short Stature-Optic Atrophy-Pelger-Huët Anomaly Syndrome Orphanet
  
  A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis.
Steroid Diabetes Wikipedia

Mechanism [ edit ] Glucocorticoids oppose insulin action and stimulate gluconeogenesis , especially in the liver , resulting in a net increase in hepatic glucose output. ... Criteria [ edit ] The diagnostic criteria for steroid diabetes are those of diabetes (fasting glucoses persistently above 125 mg/dl (7 mM) or random levels above 200 mg/dl (11 mM)) occurring in the context of high-dose glucocorticoid therapy.
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 Of Pancreas Orphanet
  
  Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma) (see these terms). Epidemiology Prevalence in the U.S. is estimated at 1/4,000-1/3,300 and 1/37,000 in Japan, but this is likely an underestimate due to a low detection rate. Clinical description PNETs, when functional, usually present in the 5th decade of life as various hypersecretion syndromes. These include insulinoma presenting with hyperinsulinemic hypoglycemia; glucagonoma with necrolytic migratory erythema, diabetes mellitus, and thomboembolisms; VIPoma with watery diarrhea, hypokalemia and or hypo/achlorhydia; SSoma with diabetes mellitus, cholelithiasis, steatorrhea and hypochlorhydria; and ZES with severe peptic ulcer disease.
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 .
Unibrow Wikipedia

A study found the prevalence of synophrys to be at 11.87% in the Omani population. [5] Tajikistan [ edit ] In Tajikistan , [6] a unibrow is viewed as an attractive quality in both men and women. [ citation needed ] For women, it is associated with virginity and purity and, in men, virility. [ citation needed ] If there is no unibrow present, or if it is weak, it is commonplace for women to use a kohl liner or a modern kajal pen to simulate a unibrow. [ citation needed ] Elsewhere [ edit ] The unibrow has largely been seen as undesirable in the Americas and Europe, with the hairs often plucked , shaved , or waxed away. [7] [8] [9] Frida Kahlo The artist Frida Kahlo was famous for her unibrow, which she often depicted in self-portraits. [10] [11] Model Sophia Hadjipanteli is also known for her unibrow. [12] It is also the trademark of NBA player Anthony Davis , [13] football player Marouane Fellaini and YouTuber ElectroBOOM . ... Retrieved 2018-08-27 . ^ "An Open Letter to the AGO About Frida Kahlo's Unibrow – Shameless Magazine" . shamelessmag.com . ^ "Why Frida Kahlo's unibrow is important" . NET-A-PORTER . ^ "Meet the model 'owning' her unibrow" .

ASXL3, ATP6V1B2, LEMD3, WNT4, NANS, WAC, CDON, KCNK4, SLC25A24, ANKRD11, ZBTB20, KIFBP, SETBP1, NIPBL, PIGN, NSUN2, ABCA5, PACS2, PHF8, IQSEC2, DHX30, CHSY1, ERLIN2, IL1RAPL1, POLR3A, RAI1, DEAF1, TMCO1, PHIP, ABCC9, SETD5, ASXL1, ARX, FREM1, KCTD7, HGSNAT, UQCC2, UTP23, TRAPPC9, GPR101, TTI2, EHMT1, ROGDI, THOC6, VPS33A, XYLT1, KNL1, CCDC47, KLHL7, HDAC8, MBD5, PACS1, TRMT1, CWF19L1, CERT1, GNE, BMP2, GJB2, KMT2A, MITF, MEFV, MAB21L1, KIT, KCNH1, IGF1R, HSPA9, HNRNPU, GRIN2B, GNS, FLII, NFIX, FHL1, FGFR2, FGFR1, FGF3, BPTF, EDNRB, EDN3, CSNK2A1, CREBBP, CDH11, CDC42, NAGLU, NOTCH2, RUSC2, TRIO, TMEM94, SMC3, AIP, EED, CDK10, CUL4B, SMC1A, HMGA2, ZNF711, ZIC2, UBE2A, TALDO1, PAX3, TAF6, TAF1, SOX10, SMS, SNAI2, SGSH, RAD21, NECTIN1, PSMD12, PPP2R1A, PMM2, EBF3
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.
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
- Neuroendocrine Tumors Mayo Clinic
  
  Overview Neuroendocrine tumors are cancers that begin in specialized cells called neuroendocrine cells. Neuroendocrine cells have traits similar to those of nerve cells and hormone-producing cells. Neuroendocrine tumors are rare and can occur anywhere in the body. Most neuroendocrine tumors occur in the lungs, appendix, small intestine, rectum and pancreas. There are many types of neuroendocrine tumors. Some grow slowly and some grow very quickly. Some neuroendocrine tumors produce excess hormones (functional neuroendocrine tumors).
Acrofrontofacionasal Dysostosis Wikipedia

An association with mutations in the neuroblastoma amplified sequence gene ( NBAS ) has been reported. [2] This gene is located on the short arm of chromosome 2.

NBAS
- Acrofrontofacionasal Dysostosis Orphanet
  
  A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. Epidemiology Only 12 patients have been reported since the first description in 1985, 7 originate from Brazil. Clinical description The cranio-facial malformations are numerous and variable. They include brachycephaly or microbrachycephaly, prominent forehead with low frontal and occipital hairline, wide anterior fontanel, hypertelorism, large philtrum, broad notched nasal tip, cleft lip, highly-arched palate, small ears with prominent helix, hypoplasia of mid-face, and prognathism. Other skeletal malformations are also present, with syndactyly of fingers 3 and 4, hypoplastic 3rd, 4th and 5th toes, anomalies of feet structure and fibular hypoplasia.
- Acrofrontofacionasal Dysostosis 1 OMIM
  
  Clinical Features Richieri-Costa et al. (1985) described an apparently 'new' autosomal recessive MCA/MR syndrome in a boy and girl, offspring of first-cousin parents. Both had mental retardation, short stature, hypertelorism, broad notched nasal tip, cleft lip/palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia, and anomalies of foot structure. Richieri-Costa et al. (1992) reported another Brazilian family in which a woman had characteristic features; her similarly affected brother died at age 1 year. Guion-Almeida and Richieri-Costa (2003) reported a third Brazilian family with acrofrontofacionasal dysostosis in a brother and sister born of second-cousin parents. Prontera et al. (2011) described 2 Indian sisters with a multiple congenital anomalies/intellectual disability syndrome consistent with AFFND1.
Maple Syrup Urine Disease GeneReviews

Acute metabolic decompensation is corrected by treating the precipitating stress while delivering sufficient calories, insulin, free amino acids, isoleucine, and valine to achieve sustained net protein synthesis in tissues. Some centers use hemodialysis/hemofiltration to remove BCAAs from the extracellular compartment, but this intervention does not alone establish net protein accretion. ... Thus, leucine tolerance reflects a balance between unmeasured protein losses (e.g., sloughed skin, hair, and nails) and the net accretion of body protein, which in turn is linked to growth rate [Strauss et al 2010]. ... The risk for metabolic crisis in any ill person with MSUD depends on residual in vivo BCKD enzyme activity in relation to the net liberation of free leucine from protein catabolism. ... Plasma leucine levels rise predictably as a result of net protein catabolism provoked by a variety of physiologic stresses, including (more...) ... Rather, they are treated with a combination of thiamine (doses ranging from 10 to 1,000 mg/day) and dietary BCAA restriction, making the in vivo contribution of thiamine impossible to discern [Chuang et al 2004].

DBT, BCKDHB, BCKDHA, BCAT2, PPM1K, DLD, ARID4B, BDNF, CTSD, SERPINE1, TNS3, CACNA2D2, MKRN3, UMOD, SPN, NME1, PAH, NBN, MEA1, IL1B, GPR4, GLI2, F2, MECP2
- Maple Syrup Urine Disease Wikipedia
  
  The typical dosage amount of thiamine-responsive MSUD depends on the enzyme activity present and can range from 10 mg - 100 mg daily. Liver transplantation [ edit ] Usually MSUD patients are monitored by a dietitian .
- Maple Syrup Urine Disease, Mild Variant OMIM
  
  A number sign (#) is used with this entry because of evidence that a mild variant of maple syrup urine disease (MSUDMV) is caused by homozygous mutation in the PPM1K gene (611065) on chromosome 4q22. One such family has been reported. Description The mild variant of MSUD is characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth. Treatment with a low-protein diet free of BCAA can result in normal psychomotor development and lack of metabolic episodes; however, plasma levels of BCAA may remain elevated (summary by Oyarzabal et al., 2013). For a general description and a discussion of genetic heterogeneity of maple syrup urine disease, see 248600. Clinical Features Oyarzabal et al. (2013) reported a 21-year-old woman with a mild variant of maple syrup urine disease.
- Maple Syrup Urine Disease Orphanet
  
  A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine-responsive MSUD. Epidemiology The estimated prevalence is around 1/150,000 live births, from published and unpublished newborn screening data. Clinical description Classic MSUD presents in the first days of life with poor feeding and drowsiness followed by a worsening encephalopathy with lethargy, intermittent apnea, stereotypic movements ("fencing" and ''bicycling") and opisthotonus. Coma and central respiratory failure supervene 7 to 10 days after birth.
- Maple Syrup Urine Disease GARD
  
  Maple syrup urine disease (MSUD) occurs when the body is unable to breakdown certain parts of proteins. This leads to the build-up of toxic substances that can cause organ and brain damage. There are several forms of MSUD. The most common is the classic or infantile form. Symptoms of the classic form of MSUD start in early infancy and include poor feeding, irritability, extra sleepiness, and muscle spasms. If untreated, respiratory failure (lack of oxygen getting to the blood) may occur.
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
  
  PMC 3764484 . PMID 19506133 . ^ Miglis MG, Prieto T, Shaik R, Muppidi S, Sinn DI, Jaradeh S (September 2020).
- 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.
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).
Delayed Milestone Wikipedia

Delayed milestone Other names Developmental delays Specialty Pediatrics Delayed milestone , also called developmental delays , is used to describe the condition where a child does not reach one of these stages at the expected age. However, in most cases, a wide variety of ages can be considered normal, and not a cause for medical concern. Milestones are often measured using percentiles, and for many milestones a value between the 5th and 95th percentile does not require intervention, though values towards the edges of that range can be associated with other medical conditions. It is not possible to treat. It has been suggested that measurement of posture sway may be an early indicator. [1] See also [ edit ] Behavioral cusp Developmental milestones Intellectual disability References [ edit ] ^ Deffeyes; Harbourne, R.; Kyvelidou, A.; Stuberg, W.; Stergiou, N. (2009). "Nonlinear analysis of sitting postural sway indicates developmental delay in infants".

NBAS, PIGQ, SLC2A1, SZT2, COL4A1, IGF1R, RAC1, GNB1, TCF20, GLRA1, KDM5C, GABRA5, GABRA2, KDM1A, TRIT1, TRAPPC12, STT3B, ZNF335, VPS53, STT3A, TAOK1, TKFC, DDC, DIAPH1, PNPT1, ALKBH8, TBC1D20, ABAT, AP4S1, ACTL6A, SLC5A6, CACNA2D2, UBTF, PIBF1, DEGS1, SPTBN2, SPART, CDKL5, MECP2, PTEN, DPH1, PUF60, UBE3A, EMC1, PTPN11, GRIN2B, FMR1, AP4M1, SCN3A, SHOC2, NUP214, HTC2, TSHR, COX3, WDR37, MTFMT, NCOR1, CEP128, SNHG14, EMC1-AS1, ASXL1, BBS4, BRAF, NRXN1, KCNJ11, FOXG1, NAA10, YWHAE, TRNT1, PAFAH1B1, SOX5, PLP1, STXBP1, WDR45, ARSD, NSD1, CACNA1A, SLC13A5, SH2B1, AUTS2, NALCN, ANKRD11, TWIST1, PAX6, MEF2C, NSD2, ARX, CHD8, DYRK1A, DMD, GABRB3, SIM1, KAT6A, MBD5, ACTB, KIF1B, IQSEC2, STAG2, MAPT, PMP22, TENM3, KIF1A, FGFR3, LRP5, LIG4, FRAXE, USP9X, KCNQ2, SMC1A, TCF4, RUNX1, ARID1B, PNP, BDNF, MAGEL2, WWOX, PDP1, PNKP, UROD, GABARAP, FOXP2, QRICH1, FBN2, NGF, EBF3, PIGH, SIRT6, NDN, BRCA2, TARDBP, TASP1, TUBB2A, DRD3, PPM1D, CDC42, FRAXA, AGO1, HNRNPU, CDKN2A, CHRNA7, SATB2, ASXL3, EXOC6B, CMIP, ZBTB20, SHANK3, SETBP1, MED13L, DOCK3, HRAS, FOXP1, SCN8A, IL6, PCDH19, KAT6B, GNAO1, CTNNB1, CNTN6, SOX3, SLC16A2, ZNF462, SLC4A4, HAX1, IFNG, TUBB3, RSS, MLYCD, DICER1, RHOQ, RNF13, CAMTA1, RTL1, PPP1R13B, ERCC6L2, POGZ, FBXO28, UBE3B, IRGM, KANK1, GADL1, KDM6B, UNC80, ELOF1, MARS2, BHLHA9, CDK2AP2, GPHN, BCAP31, TWIST2, FRY, EDIL3, DNM1L, ABCB6, SH2B3, PPP1R21, SCO2, AMMECR1, KIF14, MTCO2P12, MFN2, H3P8, SV2A, KEAP1, NLRP5, HDAC4, KMT2B, HDAC9, GREB1, BAIAP2, SYNCRIP, SUPT16H, STK25, CADPS2, ADAMTS6, CCDC103, KPTN, CAPN10, RPP14, PAXBP1, CKAP4, SUB1, PAPOLA, TUBGCP2, HBS1L, KDM5B, RAI1, RAI2, IYD, NRG3, EBP, POMT1, MIR484, AZIN2, ARFGEF2, TUBGCP5, C12orf57, VCX, HEY2, AS3MT, VPS13B, LRRC4C, CAPS2, KIF17, PIGO, HECW2, NLN, SLC12A5, PARP10, TBC1D24, ZMIZ1, KISS1R, SALL4, RARS2, RETN, DNAJC12, SMG9, ZC4H2, KMT2E, ASH1L, VPS11, NGLY1, NKAIN2, CIAO3, NLRP2, ALG9, TRAF7, DSG4, ZRANB3, LRMDA, TRAPPC9, SNX27, OPA3, NAA15, PGAP1, NRSN2, GPBAR1, CNTN4, SLC25A22, TBL1XR1, DERL1, FTO, PRRG4, ALG8, PCDH15, UPF3B, NBEAL1, CSMD1, PACS1, AGO3, MACF1, SGMS1, NTM, SMARCAL1, SETD2, MRPS28, LAMTOR2, DLL1, PGAP2, HPGDS, AHDC1, DISC1, ZBED3, UBL7, SACS, FBXL4, PHGDH, FBXL3, ASPM, NIPBL, RAB3GAP2, GSPT2, LEMD3, MMD, TANGO2, RALGAPA1, SLC35C1, UGT1A1, CWF19L1, ARID2, ATAD3A, THG1L, ADPRS, RAB36, AHI1, APOBEC3F, PPP1R12C, RBFOX1, NANS, CRBN, CACUL1, BCL11A, KDM3B, ATP8A2, WDR73, UPB1, SF3B6, ACTL6B, PHF21A, CEND1, BCOR, USP7, MAD2L1BP, GNB2, ITGB2, ISG20, INSR, CXCL8, IL2RA, IL1B, IGF1, IFN1@, NDST1, HSPA4, HOXB@, HOXA13, HNRNPH2, HIVEP2, NRG1, HDAC2, GRM7, GRIN2D, GRIN2A, GRIN1, GRIK4, GRIK3, GRIK2, GRID2, GPD2, GP1BB, GOLGA4, KCNB1, KCNC1, KCNH1, MID1, NHS, NFIA, NF1, NDUFA1, NBN, MUC1, MTHFR, COX2, MN1, ALDH6A1, MLLT3, KMT2A, MEIS2, KCNJ3, MC4R, MC1R, MBP, MAOB, MAOA, MAG, TACSTD2, KRT10, KIF11, KCNQ3, KCNQ1, KCNJ6, GOLGA2, GMDS, NTF3, GLS, CUX1, CTSL, CTBP1, CSNK2B, CRY2, CRX, CP, COL4A6, CNTF, CLTC, CLCN7, CLCN3, CENPE, CDKN1B, CD44, CD38, CD28, CA2, BTD, ADGRB3, AVP, ATRX, APOE, ALDH1A3, ABCD1, AKT1, ADSL, CYP21A2, CYP27A1, DHCR7, FANCD2, GLRB, GLI3, GHRH, GH1, LRRC32, FUT4, NR5A1, FOLH1, AFF2, FOXC1, BPTF, ACSL4, FABP3, CYB5R3, EYA1, EXTL3, EXT2, ESRRG, EPRS1, EPHA7, EFNB1, TOR1A, ATN1, ARID3A, DPYD, DNM1, CNOT2, NTRK2, MAGED1, SON, TUBA1A, MOGS, ZNF148, ZIC1, XIST, WNT1, WARS1, VWF, TRPV1, VEGFA, UVRAG, SLC35A2, UBE2A, TRPS1, TP53, NKX2-1, TGFBR2, NR2F1, TCOF1, TCF12, TBX1, ABCC8, SPOCK1, SPARC, SOX12, SOX9, SOX4, ALDH5A1, SEM1, TUSC3, SGCE, ATG5, EIF2AK3, NRXN2, EFTUD2, COPS2, DLGAP2, SLC6A5, CBFA2T2, DNAJA3, PAPSS1, MBD2, HERC2, EIF2B2, PDHX, ARHGEF7, CDK5R1, BANF1, TNFSF13, RIPK1, ABCB11, TP63, KLF7, CASK, CUL4B, PNPLA4, KMT2D, SOX2, SMS, OCRL, SMARCD1, MAP2K2, PPP3CA, PPP2CA, POU3F2, POMC, POLR2A, SEPTIN5, PMM2, PITX2, PIK3R2, PIK3R1, PIK3CG, PIK3CD, PIK3CB, PIK3CA, PIGA, PEPD, PDE1C, PAX2, PARN, PAK1, SERPINE1, OTX2, OTC, OPHN1, OPCML, ODC1, PRL, PRPS1, PSEN1, SCN1A, SMARCC2, SNAI2, SLC6A7, SLC1A4, SKP1, SHOX, SETMAR, SDHD, CXCL6, CCL11, CCL2, SCN7A, ATXN2, PTCH1, MSMO1, S100A9, RYR2, RPE65, BRD2, RALA, RAF1, RAD9A, QARS1, PVALB, PTGS2, PTH, H3P10
Infantile Liver Failure Syndrome 1 OMIM

Genetic Heterogeneity of Infantile Liver Failure Syndrome See also ILFS2 (616483), caused by mutation in the NBAS gene (608025) on chromosome 2p24.

LARS1
- Acute Infantile Liver Failure-Multisystemic Involvement Syndrome Orphanet
  
  A rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.
Pancreatic Neuroendocrine Tumor Wikipedia

PanNETs are a type of neuroendocrine tumor , representing about one third of gastroenteropancreatic neuroendocrine tumors (GEP-NETs). Many PanNETs are benign , while some are malignant . ... However, morphological imaging alone is not sufficient for a definite diagnosis [14] [16] On biopsy , immunohistochemistry is generally positive for chromogranin and synaptophysin . [17] Genetic testing thereof typically shows altered MEN1 and DAXX / ATRX . [17] Staging [ edit ] The 2010 WHO classification of tumors of the digestive system grades all the neuroendocrine tumors into three categories, based on their degree of cellular differentiation (from well-differentiated "NET G1" through to poorly-differentiated "NET G3"). ... Combinations of several medicines have been used, such as doxorubicin with streptozocin and fluorouracil (5-FU) [12] and capecitabine with temozolomide. [ citation needed ] Although marginally effective in well-differentiated PETs, cisplatin with etoposide has some activity in poorly differentiated neuroendocrine cancers (PDNECs), [12] particularly if the PDNEC has an extremely high Ki-67 score of over 50%. [8] : 30 Several targeted therapy agents have been approved in PanNETs by the FDA based on improved progression-free survival (PFS): everolimus (Afinitor) is labeled for treatment of progressive neuroendocrine tumors of pancreatic origin in patients with unresectable, locally advanced or metastatic disease. [20] [21] The safety and effectiveness of everolimus in carcinoid tumors have not been established. [20] [21] sunitinib (Sutent) is labeled for treatment of progressive, well-differentiated pancreatic neuroendocrine tumors in patients with unresectable locally advanced or metastatic disease. [22] [23] Sutent also has approval from the European Commission for the treatment of 'unresectable or metastatic, well-differentiated pancreatic neuroendocrine tumors with disease progression in adults'. [24] A phase III study of sunitinib treatment in well differentiated pNET that had worsened within the past 12 months (either advanced or metastatic disease) showed that sunitinib treatment improved progression-free survival (11.4 months vs. 5.5 months), overall survival , and the objective response rate (9.3% vs. 0.0%) when compared with placebo. [25] Genetics [ edit ] Pancreatic neuroendocrine tumors may arise in the context of multiple endocrine neoplasia type 1 , Von Hippel–Lindau disease , neurofibromatosis type 1 (NF-1) or tuberose sclerosis (TSC) [26] [27] Analysis of somatic DNA mutations in well-differentiated pancreatic neuroendocrine tumors identified four important findings: [28] [6] as expected, the genes mutated in NETs, MEN1 , ATRX , DAXX , TSC2 , PTEN and PIK3CA , [28] are different from the mutated genes previously found in pancreatic adenocarcinoma . [29] [30] one in six well-differentiated pancreatic NETs have mutations in mTOR pathway genes, such as TSC2 , PTEN and PIK3CA . [28] The sequencing discovery might allow selection of which NETs would benefit from mTOR inhibition such as with everolimus , but this awaits validation in a clinical trial . mutations affecting a new cancer pathway involving ATRX and DAXX genes were found in about 40% of pancreatic NETs. [28] The proteins encoded by ATRX and DAXX participate in chromatin remodeling of telomeres ; [31] these mutations are associated with a telomerase -independent maintenance mechanism termed ALT (alternative lengthening of telomeres) that results in abnormally long telomeric ends of chromosomes . [31] ATRX / DAXX and MEN1 mutations were associated with a better prognosis . [28] References [ edit ] ^ Burns WR, Edil BH (March 2012).

MEN1, ATRX, DAXX, ELK3, TP53, EPHB1, SLC6A2, CEACAM5, CEACAM7, UQCRFS1, DHDDS, CHPT1, RALBP1, CIB1, SEMA4D, RIPK1, CXCR4, VEGFA, TTR, GNA12, TSC2, TFE3, CDKN1B, PSG2, POMC, MYCN, CEACAM3, GRN, MUC16
Dowling-Degos Disease GARD

Dowling-Degos disease is characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation) in the body's folds and creases.

ADAM10, KRT5, POFUT1, POGLUT1, ADAR
- Reticulate Acropigmentation Of Kitamura OMIM
  
  A number sign (#) is used with this entry because of evidence that reticulate acropigmentation of Kitamura (RAK) is caused by heterozygous mutation in the ADAM10 gene (602192) on chromosome 15q21. Description Reticulate acropigmentation of Kitamura (RAK) is a rare pigmentary disorder that usually shows an autosomal dominant pattern of inheritance with high penetrance. Typical features include reticulate, slightly depressed, sharply demarcated brown macules without hypopigmentation, affecting the dorsa of the hands and feet in the first or second decade of life. The macules gradually darken and extend to the proximal regions of the extremities; progression of the eruptions stops in middle age. The increased pigmentation is found on the flexor aspects of the wrists, neck, patella, and olecranon.
- Reticulate Acropigmentation Of Kitamura Wikipedia
  
  Reticulate acropigmentation of Kitamura Other names RAK [1] Specialty Dermatology Reticulate acropigmentation of Kitamura consists of linear palmar pits and pigmented macules 1 to 4 mm in diameter on the volar and dorsal aspects of the hands and feet, usually inherited in an autosomal-dominant fashion. [2] : 856 [3] [4] Contents 1 Genetics 2 See also 3 References 4 External links Genetics [ edit ] This condition is associated with mutations in the a disintegrin and metalloproteinase domain-containing protein 10 ( ADAM10 ) gene. This association was first shown in 2013. See also [ edit ] Skin lesion List of cutaneous conditions References [ edit ] ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Reticulate acropigmentation of Kitamura" . www.orpha.net . Retrieved 23 April 2019 . ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders.
- Reticulate Acropigmentation Of Kitamura Orphanet
  
  A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti.
Azotemia, Familial OMIM

Furthermore, urea is reabsorbed actively by the tubule; this process is apparently brought into play particularly in states of low protein intake. Net reabsorption might be due to exaggerated active reabsorption or to deficient secretion.
Insulinoma GARD

Insulinoma is a type of pancreatic neuroendocrine tumor (pancreatic NET), which refers to a group of rare tumors that form in the hormone-making cells of the pancreas.

MEN1, RPS15, CDKN2B, CDKN2C, IAPP, GCG, CDKN1B, CDKN1A, SST, FOXM1, GLP1R, PDX1, INS, IL1B, RIT2, PTPRN2, GAD1, EHMT1, IGF2, ZGLP1, CDKN2A, SLC30A8, SLC30A10, GCK, SSTR2, FFAR1, YY1, LEP, DPP4, INSM1, MNX1, HSPD1, GAD2, SLC2A2, CASR, RALBP1, RIPK1, PDHX, BTC, UQCRFS1, TP53, TGM2, SSTR5, CDKN1C, INSR, ABCC8, SLC6A2, SSTR4, SSTR3, WFS1, NIT1, SERPINA1, PTPRN, GIP, GCKR, CORO1A, H3P47, PRL, H3P10, ERBB2, GAST, EGR1, ELK3, CALCA, CASP3, EPHB1, G6PC, DLK1, CCN5, SQSTM1, PTTG1, GCM2, LHX2, KL, MAPK8IP1, INSL5, IRS2, ZNRD2, KHDRBS1, DCTN6, LILRB1, FASTK, CCND1, PDIA5, FAS, ATF6, KDM1A, PDZD2, BCL2, BRCA1, TNKS, PLA2G6, HNF1A, TCF19, TGFA, TGFB1, CASP8, THBD, TKT, TSPAN7, TPD52, TRP-AGG2-5, TRPC1, EIPR1, TXN, TYRP1, UCP2, VDR, CACNA1D, BRAF, STAB1, ERP44, NUP62, KCNH4, CAT, KCNH8, GPR119, STOML3, AKT1, HCAR2, GOLGA6A, TICAM2, HES3, MIR107, MIR144, MIR155, MIR204, MIR21, MIR375, INS-IGF2, ADSS2, TMED7-TICAM2, ECT, LINC02210-CRHR1, H3P23, ADM, SLC22A12, TXNDC5, TRABD, RCBTB1, FGF21, MCAT, MCTS1, TMED7, ADIPOR1, DCTN4, CDKAL1, SLC25A38, BANK1, MEG3, ZC3H12A, APOC2, SOX6, SELENOS, IGSF9, SEMA6A, HAMP, G6PC2, PDIA2, ANGPT2, SYP, STAT5A, STC1, STAT5B, KCNJ1, KCNJ6, KRT8, KRT16, KRT19, DECR1, LEPR, LGALS3, LMO2, EPCAM, SMAD2, SMAD3, SMAD4, MAPT, MC2R, MDK, RAB8A, CUX1, MET, CIITA, MLH1, EGF, EGFR, INPPL1, HK1, MTOR, FGF13, GNA12, GPD2, FBN1, GRN, GSK3B, GSR, GTF2H1, ESR2, ELK1, HLA-DQB1, HMGN2, HNF4A, EPHB2, IFI27, IGFBP1, IGFBP2, IL4, IL10, MRC1, NCAM1, NEDD4, SLC2A1, RAP1A, REG1A, CPE, CMA1, S100A8, SCT, CCL2, CXCL12, SDHD, CHGA, RAB3A, CDKN2D, SLC16A1, SNX1, CDC42, CDK1, CCND3, CCNC, CCK, STAT1, RANBP2, CR2, NF1, PIK3CG, NFE2L1, CTSB, NME1, OPA1, PAX4, PAX6, PCSK1, ENPP1, CTNNB1, PKD1, CRHR1, POLD1, MAPK1, MAPK3, MAPK8, ADCYAP1, PRSS1, PSEN2, PSMD9, PTEN, ACO2
- Insulinoma Wikipedia
  
  The conditions of Whipple’s triad need to be met for the diagnosis of "true hypoglycemia" to be made: [ citation needed ] symptoms and signs of hypoglycemia, concomitant plasma glucose level of 45 mg/dL (2.5 mmol/L) or less, and reversibility of symptoms with administration of glucose. ... Capillary blood glucose is measured every 4 hours using a reflectance meter , until values < 60 mg/dL (3.3 mmol/L) are obtained. Then, the frequency of blood glucose measurement is increased to every hour until values are < 49 mg/dL (2.7 mmol/L).
- Insulinoma Orphanet
  
  Diagnostic methods Diagnosis is suspected on the presence of Whipple's triad (hypoglycemia with blood glucose levels of <50 mg/dL, neuroglycopenic symptoms, and immediate relief of symptoms following the administration of glucose) and confirmed by biological testing, including a 72 hour fasting test (measuring levels of insulin, C-peptide and proinsulin during hypoglycemia).
Hereditary Diffuse Gastric Cancer Orphanet

Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1 , MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.

CDH1, IL1RN, KRAS, TP53, CTNNA1, MUTYH, APC, MAP3K6, MYC, EGFR, CHEK2, TFAP2C, TWIST1, UMPS, TYMS, STAT3, TBX3, TGFA, TPM3, XRCC3, TNF, TIMP3, THBD, XRCC1, ACTC1, ZNF177, PLPP1, SELENBP1, FCGBP, SUCLG1, TNFSF9, IRS2, AKR1C3, CST7, SREBF2, ITGA8, BAP1, ARID1A, MIA, SYMPK, TAF15, PSCA, SOD2, SPRR2A, RARB, PTPRG, PTPRF, PTGS2, KLK10, PRNP, MAPK8, MAPK3, MAPK1, PRKCB, PRKAB1, PRKAA1, PREP, PTPA, PPP2R1A, PPIC, RAD23A, RARRES1, RRP9, RBP1, SNRPB, SNAI1, SLC1A2, RXRB, RPS26, RPS21, RPS19, RPS15, RPS6, RPL18, RPL15, RPL13, RORA, RGS2, RBP4, SLC16A3, WDR46, AURKB, PUS1, FAT4, FSD1, MRPS11, HRH4, KMT2C, RANBP10, EXOSC5, GKN1, CHFR, NAXD, RNF43, XAF1, KRT20, PTOV1, WWOX, EPHX3, ULBP2, NBAS, URM1, ZNF667-AS1, HOTAIR, PRR5-ARHGAP8, ATP6V0D2, DCBLD2, MBD3L2, LRRC3B, ZNF160, MIR22HG, TUBA1C, SPZ1, KISS1R, ZNF559, ARFGAP2, REG4, POLR3K, HIKESHI, IL32, PRDX5, FAM168A, WIF1, CCT7, ARL6IP5, NOP56, FST, DLC1, CNPY2, MSLN, EBI3, TRAP1, SCRN1, MTSS1, TMEM63A, PLIN2, BOP1, SERBP1, GMPR2, ZBTB20, PLCE1, ZNF593, UBXN1, COPS7A, ZNRD1, CPSF1, ABT1, PYCARD, MRPL13, MRPS18B, PRPF19, FILIP1, SNX5, ACAD8, GREM1, PPIA, PPARG, PLAU, FGG, DDB1, ACE, CYP2A6, CTSL, CTNNA2, CST1, CLDN3, KLF6, CLN3, CLCN3, CKB, CTSC, CDKN2D, CDKN2A, CDKN1B, GADD45A, DES, DNMT1, EEF1A2, FBP1, F2R, ERCC2, PLAGL1, ERBB2, ENO1, EEF1A1, DNMT3B, ECM1, ECHS1, TYMP, HBEGF, DPYD, DPAGT1, CDKN1A, CDK4, CDH2, ALDOB, APOA1, BIRC5, BIRC2, APEX1, ANXA5, ALOX5, ALDH1A3, RHOA, ALB, AHR, AGTR2, AFP, ADRB2, ADRB1, AREG, ATM, CD44, BNIP3, RUNX3, CAV1, CASP10, CASP8, CA2, CA1, BMP7, ALDH7A1, BMP2, BLVRB, BID, BDNF, BCL2L1, CCND1, FGFR2, ERCC1, FHIT, KISS1, MUC1, MTHFR, MT2A, MSX1, MMP10, MMP7, KMT2A, MLF1, MET, MARK1, SMAD4, M6PR, FADS1, FKBP2, LGALS3, MUC6, MX1, NDUFA2, SERPINB2, PIK3CA, SERPINA1, PHB, PGAM1, PDHA1, PAX6, SERPINE1, NDUFS1, PA2G4, NT5E, NPM1, NOTCH2, NOS3, NDUFV1, KRT8, CCAT1, HOXA2, HNRNPL, ICAM2, HSPD1, ID4, IDH3B, IGFBP3, HSPB1, HSPA8, IGFBP7, IL1B, IL6, HRAS, IL6R, HTR1A, CXCL8, HMOX1, GSTP1, TNFRSF9, ING1, IRF1, GLI3, ITGA5, FYN, JUN, GAST, REG1A, MLH1, MRC1, DSG2, FZR1, PALB2, CTNNB1, DSG1, DNAJB4, ST8, MRE11, BRCA1, BRCA2, CTNND1, MIR21, TGFBR2, TFF2, JUP, CDX2
- Hereditary Diffuse Gastric Cancer Wikipedia
  
  Hereditary diffuse gastric cancer Other names HDGC Diagram demonstrating the end result of a total gastrectomy, the most common prophylactic treatment of HDGC. In the procedure the esophagus is directly connected to the small intestine. Specialty Oncology , Gastroenterology Usual onset 38 years of age (median) Causes Mutation of the E-cadherin gene (CDH1) Risk factors Stomach cancer Treatment Total gastrectomy Frequency 1-3% of gastric cancers Hereditary diffuse gastric cancer (HDGC) is an inherited genetic syndrome most often caused by an inactivating mutation in the E-cadherin gene (CDH1) located on chromosome 16 . [1] Individuals who inherit an inactive copy of the CDH1 gene are at significantly elevated risk for developing stomach cancer . For this reason, individuals with these mutations will often elect to under go prophylactic gastrectomy , or a complete removal of the stomach to prevent this cancer. [1] Mutations in CDH1 are also associated with high risk of lobular breast cancers , and may be associated with a mildly elevated risk of colon cancer. [2] The most common form of stomach cancer associated with CDH1 mutations is diffuse type adenocarcinoma. An estimated 70% of males and 56% of females who inherit an inactivating CDH1 mutation will develop this form of cancer by age 80.
- Gastric Cancer, Hereditary Diffuse OMIM
  
  A number sign (#) is used with this entry because hereditary diffuse gastric cancer (HDGC) and lobular breast cancer (LBC) are caused by heterozygous germline mutation in the E-cadherin gene (CDH1; 192090) on chromosome 16q22. Somatic mutation in the CDH1 gene has also been found in patients with sporadic diffuse gastric cancer and lobular breast cancer. Description Hereditary diffuse gastric cancer is an autosomal dominant cancer predisposition syndrome. Heterozygous CDH1 mutation carriers have a 70 to 80% lifetime risk of developing diffuse gastric cancer. In addition to gastric cancer, up to 60% of female mutation carriers develop lobular carcinoma of the breast, and some carriers may develop colorectal cancer.
- Hereditary Diffuse Gastric Cancer GARD
  
  Hereditary diffuse gastric cancer (HDGC) leads to an increased risk (predisposition) of developing a specific form of stomach cancer called diffuse gastric cancer . Women with HDGC also have an increased risk for lobular breast cancer . Cancers associated with HDGC generally occur at earlier ages than those seen in people who do not have a hereditary predisposition to cancer. HDGC is caused by genetic variants in the CDH1 gene and the CTNNA1 gene. It is inherited in an autosomal dominant pattern. Diagnosis of HDGC is based on the symptoms, family history, and may be confirmed by the results of genetic testing.
- Hereditary Diffuse Gastric Cancer MedlinePlus
  
  Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases the chance of developing a form of stomach(gastric) cancer. In this form, known as diffuse gastric cancer, there is no solid tumor. Instead cancerous (malignant) cells multiply underneath the stomach lining , making the lining thick and rigid. The invasive nature of this type of cancer makes it highly likely that these cancer cells will spread (metastasize ) to other tissues, such as the liver or nearby bones. Symptoms of diffuse gastric cancer occur late in the disease and can include stomach pain, nausea, vomiting, difficulty swallowing (dysphagia), decreased appetite, and weight loss.