KEGG MEDICUS 疾患情報 |
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| エントリ | 名称 | 概要 | カテゴリ | パスウェイ | 病因遺伝子 |
|---|---|---|---|---|---|
| H02137 | ローレンス・ムーン症候群 | Laurence-Moon syndrome is caused by mutations in the PNPLA6 gene, encoding neuropathy target esterase (NTE). It is characterised by chorioretinopathy, pituitary dysfunction, childhood onset of ataxia, ... | 神経系疾患 | PNPLA6 [HSA:10908] [KO:K14676] | |
| H02138 | 高カルシウム尿症を伴う遺伝性低リン血症性くる病 | Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder that is characterized by reduced renal phosphate reabsorption, hypophosphatemia, and rickets. Patients ... | 先天性代謝異常症 | SLC34A3 [HSA:142680] [KO:K14683] | |
| H02139 | 常染色体劣性遺伝性低リン血症性くる病 | Autosomal recessive hypophosphatemic rickets (ARHR) is a rare form of hypophosphatemic rickets that is caused by mutations in the DMP1 gene. DMP1 is highly expressed in mineralized tissues, especially ... | 先天性代謝異常症 |
(ARHR1) DMP1 [HSA:1758] [KO:K23328] (ARHR2) ENPP1 [HSA:5167] [KO:K01513] |
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| H02140 | Boucher-Neuhauser 症候群 | Boucher-Neuhauser syndrome (BNS) is a rare syndrome characterized by the triad of early-onset autosomal-recessive cerebellar ataxia (ARCA), hypogonadotropic hypogonadism, and chorioretinal dystrophy. Gait ... | 神経系疾患 | PNPLA6 [HSA:10908] [KO:K14676] | |
| H02141 | 常染色体優性遺伝性低リン血症性くる病 | Autosomal dominant hypophosphatemic rickets (ADHR) is a rare genetic disorder, characterized by low serum phosphorus concentrations, rickets, osteomalacia, lower extremity deformities, short stature, bone ... | 先天性代謝異常症 | FGF23 [HSA:8074] [KO:K22428] | |
| H02142 | X 連鎖劣性低リン血症性くる病 | X-linked recessive hypophosphatemic rickets (XLRH) is a form of X-linked hypercalciuric nephrolithiasis. Patients present with rickets or osteomalacia, hypophosphatemia, and a reduced renal threshold for ... | 先天性代謝異常症 | CLCN5 [HSA:1184] [KO:K05012] | |
| H02143 | X 連鎖優性遺伝性低リン血症性くる病 | X-linked dominant hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. XLH is characterized by a defect in renal phosphate transport, leading to phosphate wasting and hypo-phosphatemia ... | 先天性代謝異常症 | PHEX [HSA:5251] [KO:K08636] | |
| H02144 | Gordon Holmes 症候群 | Gordon Holmes syndrome (GHS) is an autosomal recessive adult-onset neurodegenerative disease characterized by cognitive decline, dementia, and other clinical features such as ataxia and hypogonadotropism ... | 神経系疾患 | RNF216 [HSA:54476] [KO:K11976] | |
| H02145 |
シュウ酸カルシウム腎結石症 シュウ酸カルシウム尿路結石症 |
Nephrolithiasis is a condition in which urinary supersaturation leads to stone formation in the urinary system. It is a major health problem and its prevalence has significantly increased among children ... | 泌尿器系疾患 |
(CAON1) SLC26A1 [HSA:10861] [KO:K14700] (CAON2) OXGR1 [HSA:27199] [KO:K08419] |
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| H02146 |
Glass 症候群 2q32-q33 欠失症候群 |
Glass syndrome, also known as SATB2-associated syndrome (SAS), is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial ... | 染色体異常 | SATB2 [HSA:23314] [KO:K23226] | |
| H02147 | 腎不全を伴う X 連鎖性劣性遺伝性腎結石症 | X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis. It is characterized by recurrent nephrolithiasis, nephrocalcinosis, and progressive renal ... | 泌尿器系疾患 | CLCN5 [HSA:1184] [KO:K05012] | |
| H02148 | 高カルシウム尿症と腎石灰化症を伴う低分子蛋白尿 | Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrolithiasis. It is renal proximal tubulopathy in Japanese children that has similarities ... | 泌尿器系疾患 | CLCN5 [HSA:1184] [KO:K05012] | |
| H02149 | X 連鎖性高カルシウム尿腎結石症 | X-linked hypercalciuric nephrolithiasis (XLHN) includes four syndromes: X-linked recessive nephrolithiasis with renal failure, Dent disease, X-linked recessive hypophosphatemic rickets, and Low molecular ... | 泌尿器系疾患 | CLCN5 [HSA:1184] [KO:K05012] | |
| H02150 | 乳児または幼児てんかん性脳症 | Infantile or early childhood epileptic encephalopathy (IECEE) is severe disorder characterized by early-onset epilepsy, severe developmental delay, refractory seizures, and dysmorphic features, and a de ... | 神経系疾患 |
(IECEE1) PPP3CA [HSA:5530] [KO:K04348] (IECEE2) GABRB2 [HSA:2561] [KO:K05181] |
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| H02151 | 先天性顔面神経麻痺 | Hereditary congenital facial paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the dysfunction of the seventh cranial nerve and can be associated with ... | 先天奇形 | (HCFP3) HOXB1 [HSA:3211] [KO:K09301] | |
| H02152 |
一過性家族性新生児高ビリルビン血症 Lucey-Driscoll 症候群 |
Transient familial neonatal hyperbilirubinemia, also known as Lucey-Driscoll syndrome, is a rare familial disorder that causes severe unconjugated hyperbilirubinemia in the first few days of life. It has ... | 先天性代謝異常症 | UGT1A1 [HSA:54658] [KO:K00699] | |
| H02153 |
巨頭症-毛細血管奇形症候群 MCAP 症候群 |
Megalencephaly-capillary malformation (MCAP) syndrome is a rare overgrowth syndrome. The main symptoms are progressive megalencephaly, polymicrogyria, capillary malformations, syndactyly, and connective ... | 先天奇形 | PIK3CA [HSA:5290] [KO:K00922] | |
| H02154 | 上腕骨異形成症 | Autosomal recessive omodysplasia (OMOD1) is a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay. It is caused by mutations in glypican ... | 先天奇形 |
(OMOD1) GPC6 [HSA:10082] [KO:K08112] (OMOD2) FZD2 [HSA:2535] [KO:K02235] |
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| H02155 | 分節異常骨異形成症 | The dyssegmental dysplasia is a rare, autosomal recessive skeletal dysplasia with micromelia. There are two recognized types: the severe, lethal Silverman-Handmaker type (DDSH) and the milder Rolland-Desbuquois ... | 先天奇形 | HSPG2 [HSA:3339] [KO:K06255] | |
| H02156 |
Lamb-Shaffer 症候群 12p12.1 microdeletion 症候群 |
Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by developmental delay, mild to moderate intellectual disability, speech delay, and mild characteristic facial appearance. It is caused ... | 染色体異常 | SOX5 [HSA:6660] [KO:K09269] | |
| H02157 | 短肋骨胸郭異形成症 | Short-rib thoracic dysplasia (SRTD) is a group of autosomal recessive skeletal ciliopathies. The ciliary machinery has been implicated in more than a dozen disorders, now called ciliopathies. Primary cilia ... | 先天奇形 | hsa04010 MAPK signaling pathway |
(SRTD2) IFT80 [HSA:57560] [KO:K19678] (SRTD3) DYNC2H1 [HSA:79659] [KO:K10414] (SRTD4) TTC21B [HSA:79809] [KO:K19673] (SRTD5) WDR19 [HSA:57728] [KO:K19671] (SRTD6) NEK1 [HSA:4750] [KO:K08857] (SRTD7) WDR35 [HSA:57539] [KO:K19674] (SRTD8) DYNC2I1 [HSA:55112] [KO:K22869] (SRTD9) IFT140 [HSA:9742] [KO:K19672] (SRTD10) IFT172 [HSA:26160] [KO:K19676] (SRTD11) DYNC2I2 [HSA:89891] [KO:K22868] (SRTD13) CEP120 [HSA:153241] [KO:K16459] (SRTD14) JBTS23 [HSA:9786] [KO:K22865] (SRTD15) DYNC2LI1 [HSA:51626] [KO:K10417] (SRTD16) IFT52 [HSA:51098] [KO:K19681] (SRTD17) DYNLT2B [HSA:255758] [KO:K22866] (SRTD18) IFT43 [HSA:112752] [KO:K19675] (SRTD19) IFT81 [HSA:28981] [KO:K19677] (SRTD20) INTU [HSA:27152] [KO:K22862] (SRTD21) JBTS38 [HSA:9851] [KO:K21765] (SRTD22) FGF4 [HSA:2249] [KO:K04358] |
| H02158 |
Weyers 四肢顔面骨形成不全症 Curry-Hall 症候群 |
Weyers acrofacial dysostosis (WAD), also known as Curry-Hall syndrome, is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. It is caused ... | 先天奇形 |
EVC1 [HSA:2121] [KO:K19605] EVC2 [HSA:132884] [KO:K19608] |
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| H02159 |
家族性寒冷自己炎症症候群 家族性寒冷じんま疹 |
Familial cold autoinflammatory syndrome (FCAS), also known as familial cold urticaria, is an autosomal dominant inflammatory disease that is characterized by episodes of rash, arthralgia, fever, conjunctivitis ... | 免疫系疾患 |
(FCAS1) NALP3 [HSA:114548] [KO:K12800] (FCAS2) NALP12 [HSA:91662] [KO:K20865] (FCAS3) PLCG2 [HSA:5336] [KO:K05859] (FCAS4) NLRC4 [HSA:58484] [KO:K12805] |
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| H02160 | 頭蓋縫合早期癒合症 | Craniosynostosis (CRS) is the premature fusion of the cranial sutures and secondary distortion of skull shape. | 先天奇形 |
(CRS1) TWIST1 [HSA:7291] [KO:K09069] (CRS2) MSX2 [HSA:4488] [KO:K09341] (CRS3) TCF12 [HSA:6938] [KO:K15603] (CRS4) ERF [HSA:2077] [KO:K09434] (CRS5) ALX4 [HSA:60529] [KO:K09451] (CRS6) ZIC1 [HSA:7545] [KO:K09224] (CRS7) SMAD6 [HSA:4091] [KO:K04677] |
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| H02161 | グレイグ尖頭多合指症候群 | Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital anomaly syndrome. The clinical findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. GCPS is caused ... | 先天奇形 | GLI3 [HSA:2737] [KO:K06230] | |
| H02162 | ウイルス性肝炎 | Viral hepatitis is liver inflammation due to infection by viruses. There are five major hepatotropic viruses, which are different in viral taxonomy. Among them hepatitis B virus (HBV) and hepatitis C virus ... | ウイルス感染症 | ||
| H02163 | オロプーシェ熱 | Oropouche fever is an infectious disease caused by Oropouche virus (OROV), an orthobunyavirus in the order Bunyavirales of -ssRNA viruses, and transmitted by mosquitoes and biting midges. OROV was first ... | ウイルス感染症 | ||
| H02164 | サシチョウバエ熱 | Sandfly fever is an infectious disease caused by Sandfly fever Naples virus (SFNV), a phlebovirus in the order Bunyavirales of -ssRNA viruses, and transmitted by biting midges and mosquitoes. SFNV was ... | ウイルス感染症 | ||
| H02165 | コロラドダニ熱 | Colorado tick fever is an infectious disease caused by Colorado tick fever virus (CTFV), a cortivirus in the Reoviridae family of dsRNA viruses, and transmitted by Rocky Mountain wood tick (Dermacentor ... | ウイルス感染症 | ||
| H02166 | セントルイス脳炎 | Saint Louis encephalitis is an infection of the central nervous system caused by Saint Louis encephalitis virus (SLEV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Culex ... | ウイルス感染症 |