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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01093 |
Paragonimiasis Pulmonary distomatosis Lung fluke disease Benign endemic hemoptysis |
... boar meat (paratenic host). Paragonimiasis is generically insidious in its onset and mildly chronic in its course. The first report of an adult Paragonimus fluke obtained from humans dates back to 1879. | Parasitic infectious disease | ||
| H01096 | Pyruvate kinase deficiency | ... mutations associated with non-spherocytic haemolytic anaemia and eight polymorphic sites have been so far reported in the PKLR gene. It has also been found that a specific mutation in the PKLR gene causes hereditary ... | Inherited metabolic disorder | PKLR [HSA:5313] [KO:K12406] | |
| H01108 |
CD36 deficiency Platelet glycoprotein IV deficiency Bleeding disorder platelet-type 10 (BDPLT10) |
... diseases. CD36 deficiency is relatively frequent in Asian and African populations. It also has been reported that CD36 deficiency might be linked with cardiomyopathy. This deficiency can be classified in ... | Inherited metabolic disorder | CD36 [HSA:948] [KO:K06259] | |
| H01109 |
Chronic mucocutaneous candidiasis Familial candidiasis (CANDF) |
... autosomal dominant inheritance and autosomal recessive inheritance have been described. It has been reported that CMC is caused by mutations in components of a signaling pathway involving the cytokine interleukin-17 | Immune system disease |
(CANDF2) CARD9 [HSA:64170] [KO:K12794] (CANDF4) CLEC7A [HSA:64581] [KO:K10074] (CANDF5) IL17RA [HSA:23765] [KO:K05164] (CANDF6) IL17F [HSA:112744] [KO:K05494] (CANDF7) STAT1 [HSA:6772] [KO:K11220] (CANDF8) TRAF3IP2 [HSA:10758] [KO:K21124] (CANDF9) IL17RC [HSA:84818] [KO:K05166] |
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| H01114 | Ocular coloboma | ... identified as a key regulator of eye development. Currently around 500 mutations of PAX6 have been reported. And most PAX6 nonsense mutations lead to aniridia, while missense mutations are related to foveal ... | Congenital malformation |
PAX6 [HSA:5080] [KO:K08031] SALL2 [HSA:6297] [KO:K19871] YAP1 [HSA:10413] [KO:K16687] |
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| H01117 | Chronic recurrent multifocal osteomyelitis | ... consisting of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis. It has been reported that mutations in LPIN2 are responsible for this syndrome. | Immune system disease |
(CRMO1) LPIN2 [HSA:9663] [KO:K15728] (CRMO2) IL1RN [HSA:3557] [KO:K05481] (CRMO3) IL1R1 [HSA:3554] [KO:K04386] |
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| H01131 |
Hereditary neuralgic amyotrophy Hereditary brachial plexus neuropathy |
... sensory loss. HNA is triggered by environmental factors such as infection or parturition. It has been reported that HNA is caused by mutations in the gene septin 9. Septins are implicated in formation of ... | Nervous system disease | SEPT9 [HSA:10801] [KO:K16938] | |
| H01132 | Aplastic anemia | ... 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 with AA has heterozygous ... | 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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| H01136 | Carboxypeptidase N deficiency | ... regulator of inflammation. Although deficiency of CPN produces a severe allergic syndrome, there are no reported cases of complete deficiency of CPN in humans. There are a few documented cases of partial CPN ... | Immune system disease | CPN1 [HSA:1369] [KO:K01292] | |
| 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] | |
| H01146 | Aminoacylase 1 deficiency | ... accumulation of N-acetyl amino acids in the urine. In affected individuals neurological findings such as febrile seizures, delay of psychomotor development and moderate mental retardation have been reported. | Inherited metabolic disorder | ACY1 [HSA:95] [KO:K14677] | |
| H01147 | Methylobacterium infection | ... are fastidious, pink-pigmented, gram-negative bacilli that rarely cause human infections. It has been reported to that the bacterium can cause catheter-related infection in both immunocompromised and immunocompetent ... | Bacterial infectious disease | ||
| H01148 | Caulobacter infection | ... gram-negative bacterium characterized by asymmetric cell division and stalk. Although infection with Caulobacter species is rare, a case has been reported in a patient undergoing intermittent peritoneal dialysis. | Bacterial infectious disease | ||
| H01150 | Phenylobacterium infection | Phenylobacterium is a gram-negative rod bacterium. The first case of cutaneous infectious granuloma caused by this bacterium was reported in 2010. | Bacterial infectious disease | ||
| H01160 | Schizencephaly | ... between the inner and outer liquor spaces. Gray matter-lined clefts in the cerebral cortex and a range of neurological presentations are characteristic. Mutations in SIX3, SHH, and EMX2 have been reported. | Congenital malformation |
SIX3 [HSA:6496] [KO:K19473] SHH [HSA:6469] [KO:K11988] EMX2 [HSA:2018] [KO:K09317] |
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| H01165 | Novosphingobium aromaticivorans infection | ... bacterium that is well known for its ability to degrade phenolic structures. N. aromaticivorans has been reported to trigger the development of primary biliary cirrhosis because it expresses proteins that have ... | Bacterial infectious disease | ||
| H01166 | Sphingomonas paucimobilis infection | ... yellow-pigmented, non-fermentative, gram-negative bacillus found in water. This bacterium has been reported to cause nosocomial infections and is considered to originate from contaminated hospital environment ... | Bacterial infectious disease | ||
| H01167 | Granulibacter infection | Granulibacter is a gram-negative acetic acid bacterium that is recently reported to be a human opportunistic pathogen. Granulibacter has been isolated from patients with chronic granulomatous disease, ... | Bacterial infectious disease |
CYBB (Chronic granulomatous disease) [HSA:1536] [KO:K21421] CYBA (Chronic granulomatous disease) [HSA:1535] [KO:K08009] NCF1 (Chronic granulomatous disease) [HSA:653361] [KO:K08011] |
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| H01168 | Sea-blue histiocyte disease | ... including the bone marrow, liver, and spleen. This disorder is classified as either primary or secondary; most cases are secondary to lipid metabolic diseases. A mutation in the APOE gene has been reported. | Inherited metabolic disorder | APOE [HSA:348] [KO:K04524] | |
| H01169 | Acetobacter infection | ... that oxidize alcohols or sugars incompletely. A. cibinongensis is one of the members that is mainly found in tropical fruits and flowers. A case of human infection with A. cibinongensis has been reported. | Bacterial infectious disease | ||
| H01177 | Infantile bilateral striatal necrosis | ... atrophy, and mental retardation. The mechanism of IBSN has not been elucidated, although it has been reported that IBSN usually occurs as a result of metabolic, familial, or toxic diseases. Mutations in ... | Nervous system disease |
NUP62 [HSA:23636] [KO:K14306] MT-ATP6 [HSA:4508] [KO:K02126] |
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| H01183 | Thiamine-responsive megaloblastic anemia | ... high-affinity thiamine transporter protein. In addition to the cardinal components, other findings are also reported in TRMA syndrome including congenital heart disease, arrhythmias, cardiomyopathy, retinal degeneration ... | Inherited metabolic disorder | SLC19A2 [HSA:10560] [KO:K14610] | |
| H01185 |
Cerebral amyloid angiopathy Hereditary cerebral hemorrhage with amyloidosis |
... Although CAA most commonly appears in a sporadic form associated with aging, several familial forms of CAA reported to date. Hereditary cystatin C amyloid angiopathy (HCCAA) is a rare, fatal amyloid disease in ... | Neurodegenerative disease |
CST3 [HSA:1471] [KO:K13899] APP [HSA:351] [KO:K04520] |
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| H01191 | Asthma with nasal polyps and aspirin intolerance | ... eosinophilic inflammation of nasal and bronchial tissue, often associated with nasal polyps. It has been reported that genetic variations in TBX21 are associated with susceptibility to asthma with nasal polyps ... | Immune system disease |
TBX21 [HSA:30009] [KO:K10166] PTGER2 [HSA:5732] [KO:K04259] |
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| H01192 |
Lysyl hydroxylase 3 deficiency Bone fragility with contractures arterial rupture and deafness |
... lysyl hydroxylase activity, LH3 has also collagen galactosyltransferase and glucosyltransferase activities. It has been reported that one mutation dramatically reduced the sugar-transfer activity of LH3. | Congenital malformation | PLOD3 [HSA:8985] [KO:K13646] | |
| H01198 | Fanconi renotubular syndrome | ... renal phosphate wasting, bone mineral deficiency, and decreased glomerular filtration rates. It is reported that mutations in SLC34A1, which encodes the renal sodium-inorganic phosphate cotransporter NaPi-IIa ... | Inherited metabolic disorder |
(FRTS1) GATM [HSA:2628] [KO:K00613] (FRTS2) SLC34A1 [HSA:6569] [KO:K14683] (FRTS3) EHHADH [HSA:1962] [KO:K07514] (FRTS4) HNF4A [HSA:3172] [KO:K07292] (FRTS5) NDUFAF6 [HSA:137682] [KO:K18163] |
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| H01199 | Hyperalphalipoproteinemia | ... environmental factors. The most important cause of primary HALP is a genetic deficiency of CETP, which has been reported mainly from Japan. A mutation in APOC3 gene is also associated in some families. Familial HALP ... | Inherited metabolic disorder |
(HALP1) CETP [HSA:1071] [KO:K16835] (HALP2) APOC3 [HSA:345] [KO:K08759] |
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| H01200 | Fatal infantile cardioencephalomyopathy | ... because of severe cytochrome c oxidase deficiency. Mutations in the SCO2 and COX15 gene causing cytochrome c oxidase deficiency have been reported in patients with fatal infantile cardioencephalomyopathy. | Inherited metabolic disorder |
(CEMCOX1) SCO2 [HSA:9997] [KO:K23755] (CEMCOX2) COX15 [HSA:1355] [KO:K02259] (CEMCOX3) COA5 [HSA:493753] [KO:K18178] (CEMCOX4) COA6 [HSA:388753] [KO:K18179] |
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| H01203 |
Primary congenital glaucoma Glaucoma 3 |
... (buphthalmos), corneal enlargement, rupture of Descemet's membrane, and optic nerve damage. Two genes have been reported to cause PCG, CYP1B1 and LTBP2. Both genes cause a recessive form of this disease. | Congenital malformation |
(GLC3A) CYP1B1 [HSA:1545] [KO:K07410] (GLC3D) LTBP2 [HSA:4053] [KO:K08023] (GLC3E) TEK [HSA:7010] [KO:K05121] |
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| H01205 |
Coumarin resistance Warfarin resistance |
... 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, CYP2C9, and GGCX cause warfarin resistance. | 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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| H01206 | Plasminogen deficiency | ... clinical syndromes associated with plasminogen deficiency, although numerous other organs have been reported to be affected. Type 2, also known as dysplasminogenemia, is characterized by normal, or slightly ... | Hematologic disease | PLG [HSA:5340] [KO:K01315] | |
| H01207 | Trigonocephaly | Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. It has been reported that mutations in FGFR1 and FREM1 can be associated with trigonocephaly. | Congenital malformation |
(TRIGNO1) FGFR1 [HSA:2260] [KO:K04362] (TRIGNO2) FREM1 [HSA:158326] [KO:K23380] |
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| H01208 |
Globozoospermia Round-headed spermatozoa |
... mutation in SPATA16 was associated with male infertility in human globozoospermia. It has also been reported that a recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation ... | 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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| H01213 | Gallbladder disease | ... cholelithiasis appear to be caused by the actions of several genes and environment working together. It has been reported that an ABCB4 mutation which causes a deficiency in biliary phosphatidylcholine secretion is ... | Digestive system disease |
(GBD1) ABCB4 [HSA:5244] [KO:K05659] (GBD4) ABCG8 [HSA:64241] [KO:K05684] |
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| H01214 |
Rh-null hemolytic anemia (RHN) Rh-deficiency syndrome |
... and Rh30 polypeptides, which form a complex essential for Rh antigen expression and erythrocyte membrane integrity. It is reported that RHN is caused by mutations of RHAG that encodes Rh50 glycoprotein. | Hematologic disease | RHAG [HSA:6005] [KO:K06580] | |
| H01225 | D-2-hydroxyglutaric aciduria | ... dysmorphic features. It has been suggested that mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Recently, IDH2 mutations in patients with D-2-HGA were reported. | Inherited metabolic disorder |
(D2HGA1) D2HGDH [HSA:728294] [KO:K18204] (D2HGA2) IDH2 [HSA:3418] [KO:K00031] |
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| H01227 | Inflammatory bowel disease (IBD) | ... however, they may present in infancy and may be inherited as an autosomal recessive trait. It has been reported that mutations in genes encoding the IL10R subunit proteins were found in patients with early-onset ... | 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] |
| H01230 | Adult-onset autosomal dominant leukodystrophy | ... of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis. It has been reported that ADLD can be caused by a tandem genomic duplication resulting in an extra copy of the lamin ... | Nervous system disease | LMNB1 [HSA:4001] [KO:K07611] | |
| H01231 | Biotin-thiamine-responsive basal ganglia disease | ... Symptoms disappear within a few days with the administration of high doses of biotin (5-10 mg/kg/d) and sometimes thiamine. It has been reported that BTBGD is due to mutations in the transporter gene SLC19A3. | Inherited metabolic disorder | SLC19A3 [HSA:80704] [KO:K14610] | |
| H01234 |
Trimethylaminuria Fish-odor syndrome |
... patients treated with large doses of betaine or possibly L-carnitine. In addition, transient TMAU has been reported in a preterm infant who was fed with choline-rich food supplements and has been reported in some ... | Inherited metabolic disorder | FMO3 [HSA:2328] [KO:K00485] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |