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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01033 | Congenital bilateral absence of vas deferens | The condition of congenital bilateral absence of the vas deferens (CBAVD) causes obstructive azoospermia frequently seen in cystic fibrosis (CF) that is characterized by progressive lung disease, pancreatic ... | Congenital malformation |
(CBAVD) CFTR [HSA:1080] [KO:K05031] (CBAVDX) ADGRG2 [HSA:10149] [KO:K08451] |
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| H01038 |
Cerebellar ataxia cayman type Cayman ataxia |
... mental retardation, and cerebellar dysfunction with marked cerebellar hypoplasia. It has been reported that mutation of the ATCAY gene encoding Caytaxin causes ATCAY by interfering with normal splicing. | Nervous system disease | ATCAY [HSA:85300] [KO:K18450] | |
| H01039 | Ovarian hyperstimulation syndrome | ... reproductive technology (ART). Recurrent cases and familial occurrence of OHSS have been described, and different mutations in the follicle-stimulating hormone receptor (FSHr) have been reported in these cases ... | Reproductive system disease | FSHR [HSA:2492] [KO:K04247] | |
| H01050 | Tsukamurella infection | ... gram-positive rods from the order Actinomycetales. They have been uncommonly reported as a cause of different human infections, including peritonitis, conjunctivitis, meningitis, tenosynovitis, prosthetic ... | Bacterial infectious disease | ||
| H01053 | Paroxysmal nocturnal hemoglobinuria | ... for the biosynthesis of a lipid moiety, glycosylphosphatidylinositol (GPI), that attaches dozens of different proteins to the cell surface. PIG-A mutations block GPI anchor biosynthesis, resulting in a deficiency ... | Hematologic disease |
(PNH1) PIGA [HSA:5277] [KO:K03857] (PNH2) PIGT [HSA:51604] [KO:K05292] |
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| H01068 | Aggregatibacter aphrophilus infection | Aggregatibacter aphrophilus (formerly Haemophilus aphrophilus) is a capnophilic, fermentative, non-motile, gram-negative coccobacillus, that is part of the indigenous microbiota of the human oropharynx ... | Bacterial infectious disease | ||
| H01082 | Phosphoserine aminotransferase deficiency | Phosphoserine aminotransferase (PSAT) deficiency is a disorder of serine biosynthesis characterized biochemically by low plasma and CSF concentrations of serine and glycine and clinically by intractable ... | Inherited metabolic disorder | PSAT1 [HSA:29968] [KO:K00831] | |
| H01091 |
Enterobiasis Oxyuriasis |
... one of the most widespread parasitic nematode infections caused by Enterobius vermicularis that commonly referred to as pinworm. This infection is usually associated with pruritis in the perianal region. | Parasitic infectious disease | ||
| H01111 | Cortisone reductase deficiency | ... PCOS is a common endocrine disorder characterized by hirsutism, menstrual irregularity, anovulatory infertility, obesity, insulin resistance and hyperandrogenism. 11beta-HSD1 is a dimeric enzyme that catalyzes ... | Endocrine and metabolic disease |
(CORTRD1) H6PD [HSA:9563] [KO:K13937] (CORTRD2) HSD11B1 [HSA:3290] [KO:K15680] |
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| H01112 |
Polyhydramnios, megalencephaly, and symptomatic epilepsy PMSE syndrome |
... (LYK5), truncating 180 C-terminal residues of the protein. Individuals affected by this condition suffer from severe mental retardation, gross movement disorders, and childhood mortality. Severe intractable ... | Congenital malformation | STRADA [HSA:92335] [KO:K08271] | |
| H01119 | Prolidase deficiency | ... severe autosomal recessive disorder due to the lack of prolidase (EC:3.4.13.9), a peptidase with a preference for Xaa-Pro dipeptide substrates that participates in collagen metabolism and in the terminal ... | Inherited metabolic disorder | PEPD [HSA:5184] [KO:K14213] | |
| H01120 |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Cerebral proliferative glomeruloid vasculopathy (PGV) Fowler syndrome |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also known as Fowler syndrome, is an autosomal-recessively inherited prenatal lethal disorder of brain angiogenesis, resulting ... | Nervous system disease | FLVCR2 [HSA:55640] [KO:K08220] | |
| H01121 | Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency | Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency is an inborn error of ketone body metabolism. SCOT/OXCT1 is a key mitochondrial enzyme in the metabolism of ketone bodies in various organs. Deficiency ... | Inherited metabolic disorder | OXCT1 [HSA:5019] [KO:K01027] | |
| H01122 |
Congenital pulmonary alveolar proteinosis Pulmonary surfactant metabolism dysfunction |
... also known as pulmonary surfactant metabolism dysfunction (SMDP). It is caused by one of the three different genes associated with surfactant metabolism in type II epithelial cells and characterized by respiratory ... | Respiratory system disease |
(SMDP1) SFTPB [HSA:6439] [KO:K26067] (SMDP2) SFTPC [HSA:6440] [KO:K26068] (SMDP3) ABCA3 [HSA:21] [KO:K05643] (SMDP4) CSF2RA [HSA:1438] [KO:K05066] (SMDP5) CSF2RB [HSA:1439] [KO:K04738] |
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| H01132 | Aplastic anemia | ... 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 of patients ... | 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] |
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| H01145 |
Atransferrinemia Congenital hypotransferrinemia |
Atransferrinemia is a rare autosomal recessive disorder characterized by iron overload and hypochromic anemia. A few cases of human atransferrinemia with mutations in the transferrin gene have been reported | Cardiovascular disease | TF [HSA:7018] [KO:K14736] | |
| H01151 | Brevundimonas infection | Brevundimonas species are aerobic non-fermenting gram-negative bacilli. They are infrequently isolated from clinical samples and can cause opportunistic infections in patients with underlying diseases | Bacterial infectious disease | ||
| H01159 | Anterior segment dysgenesis | ... structures at the front of the eye. These defects are thought to result from abnormal migration or differentiation of the neural-crest derived mesenchymal cells that give rise to the cornea, iris, and other ... | 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] |
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| H01166 | Sphingomonas paucimobilis infection | Sphingomonas paucimobilis is a yellow-pigmented, non-fermentative, gram-negative bacillus found in water. This bacterium has been reported to cause nosocomial infections and is considered to originate ... | Bacterial infectious disease | ||
| H01180 |
Sveinsson chorioretinal atrophy (SCRA) Helicoid peripapillary chorioretinal degeneration (HPCD) |
Sveinsson chorioretinal atrophy (SCRA), also referred to as helicoid peripapillary chorioretinal degeneration (HPCD), is a distinct autosomal dominant disease affecting both eyes characterized clinically ... | Nervous system disease | TEAD1 [HSA:7003] [KO:K09448] | |
| H01190 | Transcobalamin II deficiency | ... diarrhoea, lethargy, irritability, and occasionally immunological dysfunction. Affected individuals may suffer from long-term neurological sequelae if therapy with intramuscular hydroxocobalamin is not initiated ... | Inherited metabolic disorder | TCN2 [HSA:6948] [KO:K14619] | |
| H01192 |
Lysyl hydroxylase 3 deficiency Bone fragility with contractures arterial rupture and deafness |
... collagen disorders. In addition to lysyl hydroxylase activity, LH3 has also collagen galactosyltransferase and glucosyltransferase activities. It has been reported that one mutation dramatically reduced ... | Congenital malformation | PLOD3 [HSA:8985] [KO:K13646] | |
| H01193 | Familial tumoral calcinosis | Familial tumoral calcinosis (FTC) refers to a group of disorders inherited in an autosomal recessive fashion, distinguished by the development of ectopic and vascular calcified masses that occur in settings ... | Inherited metabolic disorder |
(HFTC1) GALNT3 [HSA:2591] [KO:K00710] (HFTC2) FGF23 [HSA:8074] [KO:K22428] (HFTC3) KL [HSA:9365] [KO:K14756] (NFTC) SAMD9 [HSA:54809] [KO:K23949] |
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| H01194 | X-linked chondrodysplasia punctata | ... abnormality, characterized by punctate calcification of the cartilage of the epiphyses, larynx and trachea. Different forms of CDP exist, the most common of which is inherited as an autosomal recessive trait (Rhizomelic ... | Congenital malformation |
(CDPX1) ARSL [HSA:415] [KO:K18222] (CDPX2) EBP [HSA:10682] [KO:K01824] |
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| H01195 | VACTERL/VATER association | The acronym VATER/VACTERL association refers to the rare, non-random co-occurrence of vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheo-esophageal fistula with or without ... | Congenital malformation |
PTEN [HSA:5728] [KO:K01110] HOXD13 [HSA:3239] [KO:K09298] (VACTERLX) ZIC3 [HSA:7547] [KO:K18487] (VCTERL) WBP11 [HSA:51729] [KO:K12866] |
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| H01205 |
Coumarin resistance Warfarin resistance |
... such as intake of vitamin K, ethnicity, age, gender, and genetic factors. Warfarin acts through interference with the recycling of vitamin K in the liver. It has been reported that mutations in VKORC1, ... | Inherited metabolic disorder |
VKORC1 [HSA:79001] [KO:K05357] CYP2A6 [HSA:1548] [KO:K17683] CYP2C9 [HSA:1559] [KO:K17719] GGCX [HSA:2677] [KO:K10106] |
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| H01208 |
Globozoospermia Round-headed spermatozoa |
... an acrosome. Acrosome plays an important role at the site of sperm-zona pellucida binding during the fertilization process. It was suggested that a homozygous mutation in SPATA16 was associated with male ... | Reproductive system disease |
(SPGF6) SPATA16 [HSA:83893] [KO:K26121] (SPGF9) DPY19L2 [HSA:283417] [KO:K24553] (SPGF66) ZPBP [HSA:11055] [KO:K25752] (SPGF67) CCDC62 [HSA:84660] [KO:K26436] (SPGF68) C2CD6 [HSA:151254] [KO:K25947] (SPGF69) GGN [HSA:199720] [KO:K26807] |
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| H01227 | Inflammatory bowel disease (IBD) | ... heterogeneous group of chronic disorders, which includes Crohn's disease and ulcerative colitis. Patients suffer chronically from abdominal pain, diarrhea, bleeding, and malabsorption. In most patients, these disorders ... | Immune system disease | hsa05321 Inflammatory bowel disease |
(IBD1) NOD2 [HSA:64127] [KO:K10165] (IBD10) ATG16L1 [HSA:55054] [KO:K17890] (IBD13) ABCB1 [HSA:5243] [KO:K05658] (IBD14) IRF5 [HSA:3663] [KO:K09446] (IBD17) IL23R [HSA:149233] [KO:K05065] (IBD19) IRGM [HSA:345611] [KO:K14139] (IBD25) IL10RB [HSA:3588] [KO:K05135] (IBD28) IL10RA [HSA:3587] [KO:K05134] (IBD29) INAVA [HSA:55765] [KO:K26459] (IBD30) CARD8 [HSA:22900] [KO:K12801] (IBD31) IL37 [HSA:27178] [KO:K05485] IL10 [HSA:3586] [KO:K05443] MST1 [HSA:4485] [KO:K23441] |
| H01237 | Sulfite oxidase deficiency | ... responsible for the oxidation of sulfite to sulfate. Several mutations have been identified from patients suffering from isolated sulfite oxidase deficiency. The more common molybdenum cofactor deficiency [DS:H00192] ... | Inherited metabolic disorder | (ISOD) SUOX [HSA:6821] [KO:K00387] | |
| H01246 |
Isolated congenital nail clubbing Isolated congenital digital clubbing |
... characterised by enlargement of the terminal segments of fingers and toes with thickened nails due to proliferation of the connective tissues and abnormal function of the nail matrix. It has been reported that ... | Congenital malformation | HPGD [HSA:3248] [KO:K00069] | |
| H01253 | Isolated follicle-stimulating hormone deficiency | ... encoding the beta chain of follicle-stimulating hormone (FSH). FSH is essential for normal puberty and fertility in females, particularly ovarian follicular development beyond the antral stage. In males, ... | Endocrine and metabolic disease | FSHB [HSA:2488] [KO:K05250] | |
| H01257 |
GABA-transaminase deficiency 4-Aminobutyrate aminotransferase deficiency |
GABA-transaminase deficiency is a very rare inborn error of GABA degradation. The phenotype of this deficiency includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures ... | Inherited metabolic disorder | ABAT [HSA:18] [KO:K13524] | |
| H01262 | Formiminotransferase deficiency | Formiminotransferase deficiency is an autosomal recessive disorder of folate metabolism. It is due to defects in the bifunctional enzyme glutamate formiminotransferase-cyclodeaminase (FTCD). Features of ... | Inherited metabolic disorder | FTCD [HSA:10841] [KO:K13990] | |
| H01267 | Familial hyperinsulinemic hypoglycemia | ... the disease have disclosed specific genetic defects in the regulation of insulin secretion. Seven different loci have been associated with hyperinsulinism: ABCC8, KCNJ11, HADHSC, GCK, GLUD1, SLC16A1, and ... | Inherited metabolic disorder |
(HHF1/ LIH) ABCC8 [HSA:6833] [KO:K05032] (HHF2) KCNJ11 [HSA:3767] [KO:K05004] (HHF3) GCK [HSA:2645] [KO:K12407] (HHF4) HADH [HSA:3033] [KO:K00022] (HHF5) INSR [HSA:3643] [KO:K04527] (HHF6) GLUD1 [HSA:2746] [KO:K00261] (HHF7) SLC16A1 [HSA:6566] [KO:K08179] (HHF8) SLC25A36 [HSA:55186] [KO:K15116] |
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| H01278 | Iron-refractory iron deficiency anemia | ... (IRIDA) is a rare autosomal recessive disorder characterized by hypochromic microcytic anaemia, low transferrin saturation and high levels of the iron-regulated hormone hepcidin. The disease is caused by mutations ... | Hematologic disease | TMPRSS6 [HSA:164656] [KO:K09637] | |
| H01320 | Epidemic keratoconjunctivitis | ... keratoconjunctivitis clinical syndromes: EKC and pharyngoconjunctival fever (PCF) [DS:H01420], which are caused by different HAdV serotypes. HAdV-8, HAdV-19, and HAdV-37 are common causative agents of EKC. In addition to ... | Viral infectious disease | ||
| H01321 | Pneumococcal disease | ... children and in older adults and is roughly divided into invasive and non-invasive disease; the former refers to infections in which the microorganism is isolated from normal sterile body sites, such as the ... | Bacterial infectious disease | ||
| H01331 |
Dental caries Dental decay |
... bacteria involved in caries formation are mutans streptococci and lactobacilli. When sugars or other fermentable carbohydrates are ingested, the resulting fall in dental plaque pH caused by organic acids ... | Bacterial infectious disease | ||
| H01360 | Allergic rhinitis | ... of AR entails a complex interaction between genetic predisposition and environmental exposure to different factors, of which the most important is the implicated allergen. Single-nucleotide polymorphism ... | Immune system disease |
IL13 [HSA:3596] [KO:K05435] FOXJ1 [HSA:2302] [KO:K09402] |
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| H01368 |
Cytochrome c oxidase (COX) deficiency Mitochondrial complex IV deficiency (MT-C4D) |
... inherited in either an autosomal recessive or a maternal pattern. Patients can present with a number of different clinical phenotypes, including Leigh syndrome, Fatal infantile cardioencephalomyopathy, and Leber ... | Inherited metabolic disorder, Mitochondrial disease |
(MC4DN1) SURF1 [HSA:6834] [KO:K14998] (MC4DN2) SCO2 [HSA:9997] [KO:K23755] (MC4DN3) COX10 [HSA:1352] [KO:K02257] (MC4DN4) SCO1 [HSA:6341] [KO:K07152] (MC4DN5) LRPPRC [HSA:10128] [KO:K17964] (MC4DN6) COX15 [HSA:1355] [KO:K02259] (MC4DN7) COX6B1 [HSA:1340] [KO:K02267] (MC4DN8) TACO1 [HSA:51204] [KO:K18189] (MC4DN9) COA5 [HSA:493753] [KO:K18178] (MC4DN10) COX14 [HSA:84987] [KO:K18181] (MC4DN11) COX20 [HSA:116228] [KO:K18184] (MC4DN12) PET100 [HSA:100131801] [KO:K18186] (MC4DN13) COA6 [HSA:388753] [KO:K18179] (MC4DN14) COA3 [HSA:28958] [KO:K18175] (MC4DN15) COX8A [HSA:1351] [KO:K02273] (MC4DN16) COX4I1 [HSA:1327] [KO:K02263] (MC4DN17) COA8 [HSA:84334] [KO:K23506] (MC4DN18) COX6A2 [HSA:1339] [KO:K02266] (MC4DN19) PET117 [HSA:100303755] [KO:K18188] (MC4DN20) COX5A [HSA:9377] [KO:K02264] (MC4DN21) NDUFA4 [HSA:4697] [KO:K03948] (MC4DN22) COX16 [HSA:51241] [KO:K18182] (MC4DN23) COX11 [HSA:1353] [KO:K02258] (COXPD44) FASTKD2 [HSA:22868] [KO:K18190] (MT-C4D) COX1 [HSA:4512] [KO:K02256] (MT-C4D) COX2 [HSA:4513] [KO:K02261] (MT-C4D) COX3 [HSA:4514] [KO:K02262] |
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