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Entry Name Description Category Pathway Gene
H00212 Acrodermatitis enteropathica Acrodermatitis enteropathica (AEZ) is an autosomal recessive disorder of zinc deficiency caused by defects of a zinc transporter gene. The disorder is characterized by intermittent simultaneous occurrence ... Inherited metabolic disorder SLC39A4 [HSA:55630] [KO:K14710]
H00213 Hypophosphatasia ... disorder caused by deficiency of alkaline phosphatase activity and characterized by defective bone and teeth mineralization. The transmission of severe forms is autosomal recessive, while milder forms may be ... Inherited metabolic disorder ALPL [HSA:249] [KO:K01077]
H00214 Hypophosphatemic rickets ... is a group of genetic disorders characterized by defective reabsorption of inorganic phosphorus by the renal tubules resulting in hypophosphatemia and rickets associated with mineralization defect. Fibroblast ... Inherited metabolic disorder (XLHR) PHEX [HSA:5251] [KO:K08636]
(XLRH) CLCN5 [HSA:1184] [KO:K05012]
(ADHR) FGF23 [HSA:8074] [KO:K22428]
(ARHR1) DMP1 [HSA:1758] [KO:K23328]
(ARHR2) ENPP1 [HSA:5167] [KO:K01513]
(HHRH) SLC34A3 [HSA:142680] [KO:K14683]
H00215 Periodic paralysis The periodic paralyses are characterized by episodic muscle weakness often related to potassium levels. They include hyperkalaemic periodic paralysis (HyperPP), hypokalaemic periodic paralysis (HypoPP) ... Nervous system disease; Musculoskeletal disease (HYPP HOKPP2) SCN4A [HSA:6329] [KO:K04837]
(HOKPP1) CACNA1S [HSA:779] [KO:K04857]
(ATS) KCNJ2 [HSA:3759] [KO:K04996]
H00216 Congenital adrenal hyperplasia ... (CAH) is a group of monogenic autosomal recessive disorders due to an enzyme deficiency in steroid biosynthesis. All the adrenal hyperplasia syndromes are examples of mixed hypo- and hyperadrenocorticism. Endocrine and metabolic disease STAR [HSA:6770] [KO:K16931]
HSD3B2 [HSA:3284] [KO:K00070]
CYP21A2 [HSA:1589] [KO:K00513]
CYP11B1 [HSA:1584] [KO:K00497]
CYP17A1 [HSA:1586] [KO:K00512]
H00217 Pulmonary alveolar proteinosis ... proteinosis (PAP) is a rare but potentially treatable disease, characterized by impaired surfactant metabolism that leads to accumulation in the alveoli of proteinaceous material rich in surfactant protein and its ... Respiratory system disease
H00218 Cystic fibrosis Cystic fibrosis (CF) is an autosomal recessive disorder of the exocrine glands caused by mutation of CFTR gene which encodes an ABC transporter for salt homeostasis. CF is a common lethal single-gene disorder ... Respiratory system disease CFTR [HSA:1080] [KO:K05031]
TGFB1 [HSA:7040] [KO:K13375]
FCGR2A [HSA:2212] [KO:K06472]
H00219 Hemophilia Hemophilia A and B are X-linked recessive disorders which are the most common hereditary hemorrhagic disorders caused by a deficiency or dysfunction of blood coagulation factor VIII (FVIII) and factor ... Hematologic disease (HEMA) F8 [HSA:2157] [KO:K03899]
(HEMB) F9 [HSA:2158] [KO:K01321]
(VWD) VWF [HSA:7450] [KO:K03900]
(VWDP) GP1BA [HSA:2811] [KO:K06261]
H00220 Factor V deficiency
Owren disease 		Factor V deficiency is an autosomal recessive hemorrhagic disorder, which is identified as an inherited resistance to the anticoagulant function of activated protein C. Hematologic disease F5 [HSA:2153] [KO:K03902]
H00222 Afibrinogenemia
Dysfibrinogenemia 		Congenital fibrinogen defects caused by mutation of any of fibrinogen genes (FGA, FGB, and FGG) include both quantitative defects (type I deficiencies or afibrinogenemia) and qualitative defects (type II deficiencies ... Hematologic disease FGA [HSA:2243] [KO:K03903]
FGB [HSA:2244] [KO:K03904]
FGG [HSA:2266] [KO:K03905]
H00223 Inherited thrombophilia
Thrombophilia due to thrombin defect (THPH) 		Congenital thrombophilias are inherited disorders associated with an increased tendency to venous thromboembolism caused by mutation of genes affecting the anticoagulant pathways of blood coagulation. Hematologic disease (THPH1) F2 [HSA:2147] [KO:K01313]
(THPH2) F5 [HSA:2153] [KO:K03902]
(THPH3/4) PROC [HSA:5624] [KO:K01344]
(THPH5/6) PROS1 [HSA:5627] [KO:K03908]
(THPH7) SERPINC1 [HSA:462] [KO:K03911]
(THPH8) F9 [HSA:2158] [KO:K01321]
(THPH10) SERPIND1 [HSA:3053] [KO:K03912]
(THPH11) HRG [HSA:3273] [KO:K23410]
(THPH12) THBD [HSA:7056] [KO:K03907]
(THPH13) F8 [HSA:2157] [KO:K03899]
FGA [HSA:2243] [KO:K03903]
FGB [HSA:2244] [KO:K03904]
FGG [HSA:2266] [KO:K03905]
H00224 Bernard-Soulier syndrome
Giant platelet syndrome 		Bernard-Soulier syndrome (BSS) is a bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor receptor which is composed of 4 proteins, GP1BA, GP1BB, GP9 and ... Hematologic disease GP1BA [HSA:2811] [KO:K06261]
GP1BB [HSA:2812] [KO:K06262]
GP9 [HSA:2815] [KO:K06263]
H00225 Thrombotic thrombocytopenic purpura
Moschcowitz disease
Schulman-Upshaw syndrome 		Thrombotic thrombocytopenic purpura (TTP) is caused by mutation in the ADAMTS13 gene and characterized by microangiopathic hemolytic anemia and thrombocytopenia. The idiopathic forms were found to have ... Cardiovascular disease ADAMTS13 [HSA:11093] [KO:K08627]
H00226 Glanzmann thrombasthenia Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. This disease is caused by mutation in ... Hematologic disease (GT1) ITGA2B [HSA:3674] [KO:K06476]
(GT2) ITGB3 [HSA:3690] [KO:K06493]
H00227 Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia (CAMT) is an autosomal recessive bone marrow failure syndrome, characterized by thrombocytopenia due to defective megakaryocytopoiesis. The disorder is induced ... Hematologic disease (CAMT1) MPL [HSA:4352] [KO:K05082]
(CAMT2) THPO [HSA:7066] [KO:K06854]
H00228 Thalassemia Thalassemia is the most common hereditary blood disease caused by mutation of genes encoding hemoglobin alpha and beta chains. The anemia that is associated with thalassemia is caused by ineffective erythropoiesis ... Hematologic disease (Alpha) HBA1 [HSA:3039] [KO:K13822]
(Alpha) HBA2 [HSA:3040] [KO:K13822]
(Beta) HBB [HSA:3043] [KO:K13823]
(Beta) HBG1 [HSA:3047] [KO:K13824]
(Beta) HBG2 [HSA:3048] [KO:K13824]
(ATRX) ATRX [HSA:546] [KO:K10779]
H00229 Sickle cell disease
Sickle cell anemia 		... also known as Sickle cell anaemia, is a recessive genetic disease caused by a single-point mutation in the beta globin gene in codon 6 (Glu6Val) that specifies one of the chains of haemoglobin. The disease ... Hematologic disease HBB [HSA:3043] [KO:K13823]
H00231 Hereditary elliptocytosis ... elliptocytosis (EL) is an autosomal dominant hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia caused by fragility of the erythrocyte membrane skeleton ... Hematologic disease (EL1) EPB41 [HSA:2035] [KO:K06107]
(EL2) SPTA1 [HSA:6708] [KO:K27408]
(EL3) SPTB [HSA:6710] [KO:K27409]
H00232 Hereditary stomatocytosis Hereditary stomatocytosis (HSt) describes a group of hemolytic anemias with mouth-shaped red blood cells which fail to transport monovalent cations, such as sodium and potassium. Hematologic disease (OHST) RHAG [HSA:6005] [KO:K06580]
(DHS1) PIEZO1 [HSA:9780] [KO:K22128]
(DHS2) KCNN4 [HSA:3783] [KO:K04945]
(PSHK2) ABCB6 [HSA:10058] [KO:K05661]
(CHC) SLC4A1 [HSA:6521] [KO:K06573]
(SDCHCN) SLC2A1 [HSA:6513] [KO:K07299]
H00233 MYH9-related disease
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) 		The autosomal dominant disorders, which are caused by mutation of gene encoding nonmuscle myosin heavy chain 9, May-Hegglin anomaly , Fechtner syndrome(FTNS), and Sebastian syndrome , share the triad of ... Cardiovascular disease MYH9 [HSA:4627] [KO:K10352]
H00234 Pelger-Huet anomaly Pelger-Huet anomaly (PHA) is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes with skeletal abnormalities. Hematologic disease LBR [HSA:3930] [KO:K19532]
H00235 Methemoglobinemia Hereditary methemoglobinemia is an autosomal recessive disorder characterized by NADH-cytochrome b5 reductase deficiency. Hematologic disease CYB5R3 [HSA:1727] [KO:K00326]
CYB5A [HSA:1528] [KO:K23490]
HBA1 [HSA:3039] [KO:K13822]
HBB [HSA:3043] [KO:K13823]
H00236 Congenital polycythemia
Familial erythrocytosis (ECYT) 		Congenital polycythemia or familial erythrocytosis includes a heterogeneous group of disorders with the common characteristic of an absolute increased red cell mass caused by inherited defects in hypoxia ... Hematologic disease (ECYT1) EPOR [HSA:2057] [KO:K05079]
(ECYT1) JAK2 [HSA:3717] [KO:K04447]
(ECYT1) SH2B3 [HSA:10019] [KO:K12459]
(ECYT2) VHL [HSA:7428] [KO:K03871]
(ECYT3) EGLN1 [HSA:54583] [KO:K09592]
(ECYT4) EPAS1 [HSA:2034] [KO:K09095]
(ECYT5) EPO [HSA:2056] [KO:K05437]
(ECYT6) HBB [HSA:3043] [KO:K13823]
(ECYT7) HBA1/2 [HSA:3039 3040] [KO:K13822]
(ECYT8) BPGM [HSA:669] [KO:K01837]
H00237 Diamond-Blackfan anemia Diamond-Blackfan anemia (DBA) is a genetically and clinically heterogeneous congenital erythroid aplasia that develops within the first year of life. Faulty ribosome biogenesis is hypothesized to be the ... Ribosomopathy (DBA1) RPS19 [HSA:6223] [KO:K02966]
(DBA3) RPS24 [HSA:6229] [KO:K02974]
(DBA4) RPS17 [HSA:6218] [KO:K02962]
(DBA5) RPL35A [HSA:6165] [KO:K02917]
(DBA6) RPL5 [HSA:6125] [KO:K02932]
(DBA7) RPL11 [HSA:6135] [KO:K02868]
(DBA8) RPS7 [HSA:6201] [KO:K02993]
(DBA9) RPS10 [HSA:6204] [KO:K02947]
(DBA10) RPS26 [HSA:6231] [KO:K02976]
(DBA11) RPL26 [HSA:6154] [KO:K02898]
(DBA12) RPL15 [HSA:6138] [KO:K02877]
(DBA13) RPS29 [HSA:6235] [KO:K02980]
(DBA14) TSR2 [HSA:90121] [KO:K14800]
(DBA15) RPS28 [HSA:6234] [KO:K02979]
(DBA16) RPL27 [HSA:6155] [KO:K02901]
(DBA17) RPS27 [HSA:6232] [KO:K02978]
(DBA18) RPL18 [HSA:6141] [KO:K02883]
(DBA19) RPL35 [HSA:11224] [KO:K02918]
(DBA20) RPS15A [HSA:6210] [KO:K02957]
(DBA21) HEATR3 [HSA:55027] [KO:K24812]
H00238 Fanconi anemia Fanconi anemia (FA), a recessive syndrome with both autosomal and X-linked inheritance, features diverse clinical symptoms, such as progressive bone marrow failures, chromosomal instability and susceptibility ... Hematologic disease (FANCA) FANCA [HSA:2175] [KO:K10888]
(FANCB) FANCB [HSA:2187] [KO:K10889]
(FANCC) FANCC [HSA:2176] [KO:K10890]
(FANCD1) BRCA2 [HSA:675] [KO:K08775]
(FANCD2) FANCD2 [HSA:2177] [KO:K10891]
(FANCE) FANCE [HSA:2178] [KO:K10892]
(FANCF) FANCF [HSA:2188] [KO:K10893]
(FANCG) FANCG [HSA:2189] [KO:K10894]
(FANCI) FANCI [HSA:55215] [KO:K10895]
(FANCJ) BRIP1 [HSA:83990] [KO:K15362]
(FANCL) FANCL [HSA:55120] [KO:K10606]
(FANCM) FANCM [HSA:57697] [KO:K10896]
(FANCN) PALB2 [HSA:79728] [KO:K10897]
(FANCO) RAD51C [HSA:5889] [KO:K10870]
(FANCP) SLX4 [HSA:84464] [KO:K10484]
(FANCQ) ERCC4 [HSA:2072] [KO:K10848]
(FANCR) RAD51 [HSA:5888] [KO:K04482]
(FANCS) BRCA1 [HSA:672] [KO:K10605]
(FANCT) UBE2T [HSA:29089] [KO:K13960]
(FANCU) XRCC2 [HSA:7516] [KO:K10879]
(FANCV) MAD2L2 [HSA:10459] [KO:K13728]
(FANCW) RFWD3 [HSA:55159] [KO:K15691]
H00239 Bartter syndrome ... autosomal recessive transmission. Bartter syndrome is characterized by impaired salt reabsorption in the thick ascending loop of Henle with elevated aldosterone excretion resulting in salt wasting, hypokalemic ... Endocrine and metabolic disease (BARTS1) SLC12A1 [HSA:6557] [KO:K14425]
(BARTS2) KCNJ1 [HSA:3758] [KO:K04995]
(BARTS3) CLCNKB [HSA:1188] [KO:K05018]
(BARTS4A) BSND [HSA:7809] [KO:K19331]
(BARTS4B) CLCNKA,CLCNKB (double mutation) [HSA:1187 1188] [KO:K05017 K05018]
(BARTS5) MAGED2 [HSA:10916] [KO:K24127]
(HYPOC1) CASR [HSA:846] [KO:K04612]
H00240 Gitelman syndrome ... autosomal recessive renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria and is caused by mutations in the thiazide-sensitive sodium chloride transporter. Endocrine and metabolic disease SLC12A3 [HSA:6559] [KO:K14426]
H00241 Combined proximal and distal renal tubular acidosis (RTA type 3) ... disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. RTA type 3 is a mixed type that shares the features of both proximal and distal lesions, with impaired proximal bicarbonate reabsorption ... Urinary system disease CA2 [HSA:760] [KO:K18245]
H00242 Liddle syndrome ... characterized by hypokalemic metabolic alkalosis, low-renin activity, and suppressed aldosterone secretion. The mutations in the epithelial Na+ channel gene cause failure of the protein endocytosis and accumulation ... Cardiovascular disease (LIDLS1) SCNN1B [HSA:6338] [KO:K04825]
(LIDLS2) SCNN1G [HSA:6340] [KO:K04827]
(LIDLS3) SCNN1A [HSA:6337] [KO:K04824]
H00243 Hyperkalemic distal renal tubular acidosis (RTA type 4) ... due to renal impaired acid excretion. Type 4 RTA is a heterogeneous group of disorders associated with hyperkalemia due to aldosterone deficiency or impairment in aldosterone molecular signaling. Primary ... Urinary system disease (PHA1A) NR3C2 [HSA:4306] [KO:K08555]
(PHA1B1) SCNN1A [HSA:6337] [KO:K04824]
(PHA1B2) SCNN1B [HSA:6338] [KO:K04825]
(PHA1B3) SCNN1G [HSA:6340] [KO:K04827]
(PHA2B) WNK4 [HSA:65266] [KO:K08867]
(PHA2C) WNK1 [HSA:65125] [KO:K08867]
(PHA2D) KLHL3 [HSA:26249] [KO:K10443]
(PHA2E) CUL3 [HSA:8452] [KO:K03869]
H00244 Pseudohypoparathyroidism Pseudohypoparathyroidism refers to a heterogeneous group of autosomal dominant disorders characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone. The disease phenotype ... Endocrine and metabolic disease (PHP1A/1B/1C) GNAS [HSA:2778] [KO:K04632]
(PHP1B) STX16 [HSA:8675] [KO:K08489]
(PHP1B) GNAS-AS1 [HSA:149775]
H00245 Calcium sensing receptor (CASR) related disease The mutations in the CASR gene which expresses in the parathyroid hormone producing chief cells of the parathyroid gland and the cells lining the kidney tubule affect calcium homeostasis. Loss-of-function ... Inherited metabolic disorder CASR [HSA:846] [KO:K04612]
H00246 Primary hyperparathyroidism
Familial hyperparathyroidism 		Familial hyperparathyroidism (HRPT) is characterized by parathyroid adenoma and hyperplasia with hypersecretion of parathyroid hormone and hypercalcaemia. It is caused by mutation in the HRPT2 (CDC73 or ... Endocrine and metabolic disease (HRPT1/2) CDC73 [HSA:79577] [KO:K15175]
(NSHPT) CASR [HSA:846] [KO:K04612]
(HRPT4) GCM2 [HSA:9247] [KO:K21598]
MEN1 [HSA:4221] [KO:K14970]
H00247 Multiple endocrine neoplasia syndrome
Wermer syndrome
Sipple syndrome 		Multiple endocrine neoplasias (MEN) are autosomal dominant syndrome which is characterized by the occurrence of tumors involving two or more endocrine glands. Four major forms of MEN are recognized, namely ... Cancer (MEN1) MEN1 [HSA:4221] [KO:K14970]
(MEN2A MEN2B) RET [HSA:5979] [KO:K05126]
(MEN4) CDKN1B [HSA:1027] [KO:K06624]
H00249 Thyroid hormone resistance syndrome Thyroid hormone resistance syndrome, which inherits in either autosomal dominant or recessive manner, is characterized by reduced end-organ responsiveness to thyroid hormone. It is caused by mutations ... Endocrine and metabolic disease THRB [HSA:7068] [KO:K08362]
H00250 Congenital nongoitrous hypothyroidism (CHNG) Congenital nongoitrous hypothyroidism (CHNG) is characterized as resistance to thyroid-stimulating hormone (TSH) causing increased levels of plasma TSH and low levels of thyroid hormone which is essential ... Endocrine and metabolic disease (CHNG1) TSHR [HSA:7253] [KO:K04249]
(CHNG2) PAX8 [HSA:7849] [KO:K09293]
(CHNG4) TSHB [HSA:7252] [KO:K05251]
(CHNG5) NKX2-5 [HSA:1482] [KO:K09345]
(CHNG6) THRA [HSA:7067] [KO:K05547]
(CHNG7) TRHR [HSA:7201] [KO:K04282]
(CHNG8) TBL1X [HSA:6907] [KO:K04508]
(CHNG9) IRS4 [HSA:8471] [KO:K17446]
H00251 Thyroid dyshormonogenesis
Dyshormogenetic goiter 		Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism due to genetic defects ... Endocrine and metabolic disease (TDH1) SLC5A5 [HSA:6528] [KO:K14385]
(TDH2A) TPO [HSA:7173] [KO:K00431]
(TDH2B) SLC26A4 [HSA:5172] [KO:K14702]
(TDH2B) FOXI1 [HSA:2299] [KO:K09401]
(TDH3) TG [HSA:7038] [KO:K10809]
(TDH4) IYD [HSA:389434] [KO:K17231]
(TDH5) DUOXA2 [HSA:405753] [KO:K17232]
(TDH6) DUOX2 [HSA:50506] [KO:K13411]
H00252 Congenital nephrogenic diabetes insipidus Nephrogenic diabetes insipidus (NDI) is characterized by renal insensitivity to the antidiuretic effect of arginine vasopressin. Urinary system disease (NDI1) AVPR2 [HSA:554] [KO:K04228]
(NDI2) AQP2 [HSA:359] [KO:K09865]
H00253 Neurohypophyseal diabetes insipidus
Central diabetes insipidus 		... insipidus (NDI), also known as central diabetes insipidus, is a heterogeneous condition characterized by polyuria and polydipsia caused by defect of antidiuretic hormone secreted from the pituitary gland. Endocrine and metabolic disease AVP [HSA:551] [KO:K05242]
H00254 Growth hormone deficiency
Pituitary dwarfism 		Growth hormone deficiency, formerly known as Pituitary dwarfism, is a heterogeneous condition characterized by growth retardation with short stature and normal body proportions caused by growth hormone ... Endocrine and metabolic disease (IGHD1A/1B/2) GH1 [HSA:2688] [KO:K05438]
(IGHD3) BTK [HSA:695] [KO:K07370]
(IGHD4) GHRHR [HSA:2692] [KO:K04584]
(CPHD1) POU1F1 [HSA:5449] [KO:K09363]
(CPHD2) PROP1 [HSA:5626] [KO:K09327]
(CPHD3) LHX3 [HSA:8022] [KO:K09374]
(CPHD4) LHX4 [HSA:89884] [KO:K09374]
(CPHD5) HESX1 [HSA:8820] [KO:K09354]
(CPHD6) OTX2 [HSA:5015] [KO:K18490]
(CPHD7/IGHD5) RNPC3 [HSA:55599] [KO:K13157]
(CPHD8) ROBO1 [HSA:6091] [KO:K06753]
(PD2) GHR [HSA:2690] [KO:K05080]
(PHPX) SOX3 [HSA:6658] [KO:K09267]
(GHDP) GHSR [HSA:2693] [KO:K04284]
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