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Entry Name Description Category Pathway Gene
H00979 Sacral defect with anterior meningocele
Caudal regression syndrome 		... syndrome, is a rare malformation that represents a spectrum of caudal anomalies. Clinical findings include varying degrees of agenesis of the vertebral column (usually sacral or lumbosacral spine), as well ... Congenital malformation VANGL1 [HSA:81839] [KO:K04510]
H00982 Sideroblastic anemia ... Inherited sideroblastic anemia is a rare and heterogeneous disease caused by mutations of genes involved in heme biosynthesis, iron-sulfur cluster biogenesis or transport, and mitochondrial metabolism. Hematologic disease (SIDBA1) ALAS2 [HSA:212] [KO:K00643]
(SIDBA2) SLC25A38 [HSA:54977] [KO:K15118]
(SIDBA3) GLRX5 [HSA:51218] [KO:K07390]
(SIDBA4) HSPA9 [HSA:3313] [KO:K04043]
(SIDBA5) HSCB [HSA:150274] [KO:K04082]
(ASAT) ABCB7 [HSA:22] [KO:K05662]
H00999 Coenzyme Q10 deficiency Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations, including pure myopathy, myopathy with encephalopathy, cerebellar atrophy with ataxia, and infantile multisystem ... Inherited metabolic disorder (COQ10D1) COQ2 [HSA:27235] [KO:K06125]
(COQ10D2) PDSS1 [HSA:23590] [KO:K12504]
(COQ10D3) PDSS2 [HSA:57107] [KO:K12505]
(COQ10D4) COQ8A [HSA:56997] [KO:K08869]
(COQ10D5) COQ9 [HSA:57017] [KO:K18587]
(COQ10D6) COQ6 [HSA:51004] [KO:K06126]
(COQ10D7) COQ4 [HSA:51117] [KO:K18586]
(COQ10D8) COQ7 [HSA:10229] [KO:K06134]
(COQ10D9) COQ5 [HSA:84274] [KO:K06127]
H01006 Hereditary angioedema ... approximately 15% of patients with HAE, is due to expression of a dysfunctional C1INH protein. HAE type III has been observed exclusively in women and appears to be correlated with high estrogen levels. Cardiovascular disease (HAE1/2) SERPING1 [HSA:710] [KO:K04001]
(HAE3) F12 [HSA:2161] [KO:K01328]
(HAE4) PLG [HSA:5340] [KO:K01315]
(HAE5) ANGPT1 [HSA:284] [KO:K05465]
(HAE6) KNG1 [HSA:3827] [KO:K03898]
(HAE7) MYOF [HSA:26509] [KO:K22125]
(HAE8) HS3ST6 [HSA:64711] [KO:K09679]
H01012 Oculo-auricular syndrome ... ophthalmic anomalies and a particular cleft ear lobule. Previously described ocular abnormalities include bilateral microcornea, posterior synechiae, cataract, chorioretinal colobomas, and rod-cone dystrophy ... Congenital malformation HMX1 [HSA:3166] [KO:K09349]
H01020 Optic atrophy ... results from degeneration of the retinal ganglion cells whose axons form the optic nerve. Symptoms include a variable association of decreased visual acuity, visual field defects, and color vision abnormalities ... Nervous system disease (OPA1) OPA1 [HSA:4976] [KO:K17079]
(OPA3) OPA3 [HSA:80207] [KO:K23166]
(OPA5) DNM1L [HSA:10059] [KO:K17065]
(OPA7) TMEM126A [HSA:84233] [KO:K18157]
(OPA9) ACO2 [HSA:50] [KO:K01681]
(OPA10) RTN4IP1 [HSA:84816] [KO:K23164]
(OPA11) YME1L1 [HSA:10730] [KO:K08955]
(OPA12) AFG3L2 [HSA:10939] [KO:K08956]
(OPA13) SSBP1 [HSA:6742] [KO:K03111]
(OPA14) MIEF1 [HSA:54471] [KO:K23507]
(OPA15) MCAT [HSA:27349] [KO:K00645]
(OPA16) MECR [HSA:51102] [KO:K07512]
H01022 Diseases of the tricarboxylic acid cycle ... deficiency is caused by impairment of the fumarate hydratase enzyme. The symptoms of the disorder include developmental delay, severe mental retardation, language impairment, seizures and dysmorphic facial ... Inherited metabolic disorder (FMRD) FH [HSA:2271] [KO:K01679]
(MC2DN1) SDHA [HSA:6389] [KO:K00234]
(OGDHD) OGDH [HSA:4967] [KO:K00164]
H01029 Cornea plana congenita ... anomaly in which the normal protrusion of the cornea from the sclera is missing. Clinical features include hyperopia, slight microcornea, an extended limbus zone, and arcus lipoides seen even before the ... Congenital malformation (CNA2) KERA [HSA:11081] [KO:K08123]
H01032 N-acetylglutamate synthase deficiency ... resulting in fatal hyperammonemia in neonatal patients or at any later stage in life. Clinical features of NAGS deficiency include poor feeding, vomiting, altered level of consciousness, seizures, and coma. Inherited metabolic disorder NAGS [HSA:162417] [KO:K11067]
H01034 L1 syndrome ... variety of X-linked inherited neurodevelopmental disorders caused by mutations in the L1CAM gene, including X-linked hydrocephalus, MASA syndrome (mental retardation, aphasia, spastic paraplegia, adducted ... Congenital malformation L1CAM [HSA:3897] [KO:K06550]
H01035 Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia This syndrome is a condition with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum ... Congenital malformation IGBP1 (5-prime region) [HSA:3476] [KO:K17606]
H01050 Tsukamurella infection ... order Actinomycetales. They have been uncommonly reported as a cause of different human infections, including peritonitis, conjunctivitis, meningitis, tenosynovitis, prosthetic joint infections, cutaneous ... Bacterial infectious disease
H01066 Bordetella petrii infection Bordetella petrii is one of the members of the genus Bordetella, that includes human pathogen B. pertussis. Unlike other members of Bordetella, B. petrii is an environmental species but sometimes can infect ... Bacterial infectious disease
H01067 Proteus mirabilis infection ... bacterium within the Enterobacteriaceae, that inhabits the environment. It causes a number of infections including those of the skin, respiratory tract, wounds, and urinary tract. Pyelonephritis caused by the ... Bacterial infectious disease
H01073 Shewanella infection ... opportunistically pathogenic for humans. Shewanella infection is associated with a wide clinical spectrum including bacteremia/septicemia, skin and soft-tissue infection, biliary tract infection, peritonitis, ... Bacterial infectious disease
H01075 Peters anomaly ... of inheritance have been found. Peters-plus syndrome is a rare autosomal recessive genetic disorder including ocular features, systemic malformations, and variable degree of developmental delay. It is caused ... Congenital malformation B3GALTL [HSA:145173] [KO:K13675]
H01085 Diphyllobothriasis ... some countries such as Russia and Japan. The worm is acquired by eating raw or poorly cooked fish including salted or marinated fillets. Many infections with this parasite are reported to be mild or asymptomatic Parasitic infectious disease
H01096 Pyruvate kinase deficiency ... (expressed in liver, renal cortex, and small intestine) and R-PK (restricted to erythrocytes). The symptoms include jaundice, enlargement of the spleen, and hemolysis, leading to anemia. One hundred fifty-eight ... Inherited metabolic disorder PKLR [HSA:5313] [KO:K12406]
H01106 Plasminogen activator inhibitor type 1 deficiency ... fibrinolysis in the circulation. Affected individuals exhibit mild to moderate bleeding symptoms, including epistaxis, menorrhagia, and delayed bleeding after trauma or surgical procedures. Spontaneous ... Hematologic disease PAI1 [HSA:5054] [KO:K03982]
H01110 Pneumothorax ... accumulated in the pleural space and can be classified as spontaneous or traumatic. Traumatic pneumothorax includes iatrogenic cases caused during procedures such as pacemaker insertion. Spontaneous pneumothorax ... Respiratory system disease FLCN [HSA:201163] [KO:K09594]
H01114 Ocular coloboma Ocular coloboma is a congenital and common malformation which includes a deficiency of the structures of the eye, such as the iris, retina, choroid, or optic disc. It is usually inherited as an autosomal ... Congenital malformation PAX6 [HSA:5080] [KO:K08031]
SALL2 [HSA:6297] [KO:K19871]
YAP1 [HSA:10413] [KO:K16687]
H01115 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract ... hearing loss, retinitis pigmentosa, and involvement of both the central and peripheral nervous systems, including demyelinating sensorimotor polyneuropathy and cerebellar ataxia. Mutations in the ABHD12 gene ... Neurodegenerative disease ABHD12 [HSA:26090] [KO:K13704]
H01119 Prolidase deficiency ... degradation of endogenous and dietary proteins. It typically begins in childhood and common symptoms include chronic intractable skin ulcerations and mental retardation. Mutations in prolidase gene causing ... Inherited metabolic disorder PEPD [HSA:5184] [KO:K14213]
H01132 Aplastic anemia ... Autoreactive cytotoxic T cells play a key role in the pathogenesis of AA by myelosuppressive cytokines including interferon-gamma. It has been reported that polymorphisms in IFNG are related to AA. A minority ... Hematologic disease TERC [HSA:7012] [KO:K22183]
TERT [HSA:7015] [KO:K11126]
IFNG [HSA:3458] [KO:K04687]
PRF1 [HSA:5551] [KO:K07818]
SBDS [HSA:51119] [KO:K14574]
NBN [HSA:4683] [KO:K10867]
H01137 Baylisascariasis ... procyonis, a large nematodes of the order Ascaridida. The full clinical spectrum of human baylisascariasis includes visceral larva migrans, neural larva migrans, and ocular larva migrans. Neural larva migrans can ... Parasitic infectious disease
H01149 Ring dermoid of cornea ... PITX2 has been identified in the individuals affected by the RDC. PITX2 encodes a homeodomain transcription factor required for normal development of multiple organs, including eye, heart, and pituitary. Neoplasm PITX2 [HSA:5308] [KO:K04686]
H01157 Agrobacterium radiobacter infection ... pathogens affecting mostly immunocompromised or chronically debilitated hosts and patients with indwelling catheters. Clinical manifestations include bacteremia, peritonitis, and deltoid muscle myositis. Bacterial infectious disease
H01159 Anterior segment dysgenesis ... different transcription factor genes and a cytochrome enzyme gene. ASGD is sometimes divided into subtypes including aniridia, Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior ... Congenital malformation (ASGD1) PITX3 [HSA:5309] [KO:K09357]
(ASGD2) FOXE3 [HSA:2301] [KO:K09398]
(ASGD3) FOXC1 [HSA:2296] [KO:K09396]
(ASGD4) PITX2 [HSA:5308] [KO:K04686]
(ASGD5) PAX6 [HSA:5080] [KO:K08031]
(ASGD6) CYP1B1 [HSA:1545] [KO:K07410]
(ASGD7) PXDN [HSA:7837] [KO:K19511]
(ASGD8) CPAMD8 [HSA:27151]
H01168 Sea-blue histiocyte disease ... with a relatively prolonged benign course. Numerous sea-blue histiocytes are observed in many organs including the bone marrow, liver, and spleen. This disorder is classified as either primary or secondary; ... Inherited metabolic disorder APOE [HSA:348] [KO:K04524]
H01175 Staphylococcal infection ... unusual coagulase-negative staphylococcus found on the human skin. It can cause infections at many sites including superficial skin infections, bacteremia, endocarditis, osteomyelitis, and breast abscess. Endocarditis ... Bacterial infectious disease
H01176 Uncomplicated urinary tract infection ... leading gram-positive uropathogen of uncomplicated UTI, a restricted group of gram-negative bacteria, including Escherichia coli, Proteus mirabilis, and Klebsiella spp. is often observed to cause uncomplicated ... Bacterial infectious disease
H01177 Infantile bilateral striatal necrosis ... the globus pallidus, with little involvement of the rest of the brain. The clinical features of IBSN include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, ... Nervous system disease NUP62 [HSA:23636] [KO:K14306]
MT-ATP6 [HSA:4508] [KO:K02126]
H01183 Thiamine-responsive megaloblastic anemia ... protein. In addition to the cardinal components, other findings are also reported in TRMA syndrome including congenital heart disease, arrhythmias, cardiomyopathy, retinal degeneration, optic atrophy, situs ... Inherited metabolic disorder SLC19A2 [HSA:10560] [KO:K14610]
H01187 Tietz syndrome
Albinism-deafness syndrome 		... of this gene have been found to produce Waardenburg syndrome type 2 (WS2) [DS:H00169], which also includes pigmentary changes and hearing loss, but in contrast to Tietz syndrome, depigmentation is patchy ... Skin disease MITF [HSA:4286] [KO:K09455]
H01195 VACTERL/VATER association ... abnormalities have been described in rare individual cases and proposed as possible causal factors, including: deletions of distal 13q, ring chromosome 12, and 6q; duplication on 9q; mutations in PTEN, HOXD13 ... Congenital malformation PTEN [HSA:5728] [KO:K01110]
HOXD13 [HSA:3239] [KO:K09298]
(VACTERLX) ZIC3 [HSA:7547] [KO:K18487]
(VCTERL) WBP11 [HSA:51729] [KO:K12866]
H01202 Cataract ... opacity of the crystalline lens, often associated with breakdown of the lens microarchitecture, possibly including vacuole formation and disarray of lens cells, which can cause large fluctuations in density resulting ... Nervous system disease (CTRCT1) GJA8 [HSA:2703] [KO:K07617]
(CTRCT2) CRYGC [HSA:1420] [KO:K23483]
(CTRCT3) CRYBB2 [HSA:1415] [KO:K23482]
(CTRCT4) CRYGD [HSA:1421] [KO:K23483]
(CTRCT5) HSF4 [HSA:3299] [KO:K09417]
(CTRCT6) EPHA2 [HSA:1969] [KO:K05103]
(CTRCT9) CRYAA [HSA:1409] [KO:K09541]
(CTRCT10) CRYBA1 [HSA:1411] [KO:K23482]
(CTRCT11) PITX3 [HSA:5309] [KO:K09357]
(CTRCT12) BFSP2 [HSA:8419] [KO:K10379]
(CTRCT13) GCNT2 [HSA:2651] [KO:K00742]
(CTRCT14) GJA3 [HSA:2700] [KO:K07612]
(CTRCT15) MIP [HSA:4284] [KO:K09863]
(CTRCT16) CRYAB [HSA:1410] [KO:K09542]
(CTRCT17) CRYBB1 [HSA:1414] [KO:K23482]
(CTRCT18) FYCO1 [HSA:79443] [KO:K21954]
(CTRCT19) LIM2 [HSA:3982] [KO:K24190]
(CTRCT20) CRYGS [HSA:1427] [KO:K23483]
(CTRCT21) MAF [HSA:4094] [KO:K09035]
(CTRCT22) CRYBB3 [HSA:1417] [KO:K23482]
(CTRCT23) CRYBA4 [HSA:1413] [KO:K23482]
(CTRCT30) VIM [HSA:7431] [KO:K07606]
(CTRCT31) CHMP4B [HSA:128866] [KO:K12194]
(CTRCT33) BFSP1 [HSA:631] [KO:K10378]
(CTRCT34) FOXE3 [HSA:2301] [KO:K09398]
(CTRCT36) TDRD7 [HSA:23424] [KO:K18405]
(CTRCT38) AGK [HSA:55750] [KO:K09881]
(CTRCT39) CRYGB [HSA:1419] [KO:K23483]
(CTRCT40) NHS [HSA:4810] [KO:K24144]
(CTRCT41) WFS1 [HSA:7466] [KO:K14020]
(CTRCT42) CRYBA2 [HSA:1412] [KO:K23482]
(CTRCT43) UNC45B [HSA:146862] [KO:K21991]
(CTRCT44) LSS [HSA:4047] [KO:K01852]
(CTRCT45) SIPA1L3 [HSA:23094] [KO:K17703]
(CTRCT46) LEMD2 [HSA:221496] [KO:K24080]
(CTRCT47) SLC16A12 [HSA:387700] [KO:K11810]
(CTRCT48) DNMBP [HSA:23268] [KO:K20705]
(CTRCT49) PANK4 [HSA:55229] [KO:K24265]
(CTRCT50) TRPM3 [HSA:80036] [KO:K04978]
H01203 Primary congenital glaucoma
Glaucoma 3 		... from developmental abnormalities that affect the aqueous humor outflow pathway. PCG clinical features include elevated intraocular pressure (IOP), corneal edema, enlargement of the globe (buphthalmos), corneal ... Congenital malformation (GLC3A) CYP1B1 [HSA:1545] [KO:K07410]
(GLC3D) LTBP2 [HSA:4053] [KO:K08023]
(GLC3E) TEK [HSA:7010] [KO:K05121]
H01212 Familial encephalopathy with neuroserpin inclusion bodies Familial encephalopathy with neuroserpin inclusion bodies (FEBIB) is an autosomal dominant dementia that is characterized by the accumulation of mutant neuroserpin as periodic acid Schiff (PAS) positive ... Neurodegenerative disease SERPINI1 [HSA:5274] [KO:K23412]
H01215 Simpson-Golabi-Behmel syndrome Simpson Golabi Behmel syndrome (SGBS) is a complex congenital overgrowth syndrome with features that include macroglossia, macrosomia, and renal and skeletal abnormalities as well as an increased risk of ... Congenital malformation (SGBS1) GPC3 [HSA:2719] [KO:K08109]
(SGBS2) OFD1 [HSA:8481] [KO:K16480]
H01216 Left ventricular noncompaction ... progressive systolic failure, stroke and arrhythmia. It has been linked to mutations in several genes, including LIM domain binding protein 3 (ZASP), alpha-dystrobrevin (DTNA), and genes encoding the sarcomeric ... Cardiovascular disease (LVNC1) DTNA [HSA:1837] [KO:K26998]
(LVNC3) LDB3 [HSA:11155] [KO:K19867]
(LVNC4) ACTC1 [HSA:70] [KO:K12314]
(LVNC5) MYH7 [HSA:4625] [KO:K17751]
(LVNC6) TNNT2 [HSA:7139] [KO:K12045]
(LVNC7) MIB1 [HSA:57534] [KO:K10645]
(LVNC8) PRDM16 [HSA:63976] [KO:K22410]
(LVNC9) TPM1 [HSA:7168] [KO:K10373]
(LVNC10) MYBPC3 [HSA:4607] [KO:K12568]
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