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 |
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| H02287 | 難聴、ジストニアおよび脳ミエリン形成不全症 | Deafness, dystonia, and cerebral hypomyelination (DDCH) is a severe X-linked syndrome, characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, and white-matter changes. ... | 先天奇形 | BCAP31 [HSA:10134] [KO:K14009] | |
| H02288 | 網膜内層の機能障害と神経節細胞異常を伴う網膜ジストロフィー | Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (RDGCA) is an autosomal dominant retinal dystrophy with progressive loss of vision. It has been suggested that a missense ... | 神経系疾患 | ITM2B [HSA:9445] [KO:K18264] | |
| H02289 | 眼球外の奇形を伴う（または伴わない）網膜ジストロフィー | Retinal dystrophy with or without extraocular anomalies (RDEOA) is an autosomal recessive retinal dystrophy caused by mutations in RCBTB1. In affected individuals, it was found to segregate with retinitis ... | 神経系疾患 | RCBTB1 [HSA:55213] [KO:K11494] | |
| H02290 | 先天性白内障を伴う(伴わない)網膜ジストロフィーおよび虹彩欠損症 | Retinal dystrophy and iris coloboma with or without congenital cataract (RDICC) is an autosomal dominant condition of retinal dystrophy and bilateral coloboma, present in varying degrees. A mutation in ... | 神経系疾患 | MIR204 [HSA:406987] [KO:K17166] | |
| H02291 | 網膜ジストロフィー、虹彩欠損、および座瘡症候群 | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) is an early onset, progressive, and severe autosomal recessive retinitis pigmentosa. It is characterized by developmental abnormalities ... | 神経系疾患 | RBP4 [HSA:5950] [KO:K18271] | |
| H02292 | 網膜ジストロフィー、若年性白内障、低身長症候群 | Retinal dystrophy, juvenile cataracts, and short stature syndrome (RDJCSS) is an autosomal recessive retinitis pigmentosa with systemic features, including facial dysmorphologies, psychomotor developmental ... | 先天奇形 | RDH11 [HSA:51109] [KO:K11152] | |
| H02293 | 痙性対麻痺・精神運動発達遅滞・てんかん症候群 | Spastic paraplegia-psychomotor retardation-seizures syndrome (SPPRS) is an autosomal recessive neurodevelopmental syndrome caused by loss-of-function mutations in HACE1. HACE1 is an E3 ubiquitin ligase ... | 神経系疾患 | (SPPRS) HACE1 [HSA:57531] [KO:K12166] | |
| H02294 | Tatton-Brown-Rahman 症候群 | Tatton-Brown-Rahman syndrome (TBRS) is a recently identified form of overgrowth syndrome, characterized by intellectual disabilities and facial feature. Mutations in the DNA methyltransferase gene DNMT3A ... | 先天奇形 | DNMT3A [HSA:1788] [KO:K17398] | |
| H02295 | 指紋欠如疾患 | Adermatoglyphia (ADERM) is a rare autosomal dominant condition characterized by lack of palmoplantar epidermal ridges. Mutations in SMARCAD1 was identified in patients. It seems that haploinsufficiency ... | 先天奇形 | SMARCAD1 [HSA:56916] [KO:K14439] | |
| H02296 |
Basan 症候群 皮膚紋理を欠く外胚葉異形成症 |
Basan syndrome is a rare autosomal dominant ectodermal dysplasia, characterized by rapidly healing congenital acral bullae, congenital milia and lack of fingerprints. Other phenotypes include contractures ... | 先天奇形 | SMARCAD1 [HSA:56916] [KO:K14439] | |
| H02297 | CLAPO 症候群 | CLAPO syndrome is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/generalized overgrowth ... | 先天奇形 | PIK3CA [HSA:5290] [KO:K00922] | |
| H02298 | 巨頭症・顔貌異常・精神運動発達遅滞 | Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is a rare autosomal recessive overgrowth syndrome. HERC1 mutations in individuals with MDFPMR have been reported. HERC1 is believed ... | 先天奇形 | HERC1 [HSA:8925] [KO:K10594] | |
| H02299 | 先天性多発性関節拘縮症 | Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by non-progressive joint contractures from birth. There are various etiologies for AMC including genetic and environmental ... | 先天奇形 |
(AMC1) LGI4 [HSA:163175] [KO:K25430] (AMC2) ERGIC1 [HSA:57222] [KO:K20365] (AMC3) SYNE1 [HSA:23345] [KO:K19326] (AMC4) SCYL2 [HSA:55681] [KO:K17541] (AMC5) TOR1A [HSA:1861] [KO:K22990] (AMC6) NEB [HSA:4703] [KO:K18267] (AMC7) THOC2 [HSA:57187] [KO:K12879] |
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| H02300 | Steel 症候群 | Steel syndrome is an autosomal recessive disease characterized by short stature, dysmorphic features, hip dislocations, radial head dislocations, carpal coalition, cavus feet, and scoliosis. It has been ... | 先天奇形 | COL27A1 [HSA:85301] [KO:K19721] | |
| H02301 |
腎芽腫 ウィルムス腫瘍 |
Nephroblastoma, also called Wilms tumor (WT), is the most common renal tumor of childhood. It can present as a single nodule, as multifocal unilateral lesions or as bilateral tumours. Typically, nephroblastoma ... | がん |
(WT1) WT1 [HSA:7490] [KO:K09234] (WT5) POU6F2 [HSA:11281] [KO:K09368] (WT6) REST [HSA:5978] [KO:K09222] (WT7) TRIM28 [HSA:10155] [KO:K08882] CTNNB1 [HSA:1499] [KO:K02105] TP53 [HSA:7157] [KO:K04451] BRCA2 [HSA:675] [KO:K08775] GPC3 [HSA:2719] [KO:K08109] |
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| H02302 | 肝芽腫 | Although malignant tumors of the liver are rare during childhood, hepatoblastoma is the most common liver cancer in children, usually diagnosed during the first 3 years of life. These tumors are thought ... | がん |
CTNNB1 (mutation) [HSA:1499] [KO:K02105] APC (mutation) [HSA:324] [KO:K02085] AXIN2 (mutation) [HSA:8313] [KO:K04385] |
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| H02303 | 脱毛・精神遅滞症候群 | Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive disorder characterized by total or partial absence of hair from the scalp and other parts of the body and associated with mental ... | 先天奇形 |
(APMR1) AHSG [HSA:197] [KO:K23409] (APMR4) LSS [HSA:4047] [KO:K01852] |
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| H02304 | 混合性 D-2-および L-2-ヒドロキシグルタル酸尿症 | Combined D-2- and L-2-hydroxyglutaric aciduria (D,L-2-HGA), characterized by elevated levels of both D-2-hydroxyglutarate (HG) and L-2-HG in body fluids, mainly manifests in a severe neonatal epileptic ... | 先天性代謝異常症 | SLC25A1 [HSA:6576] [KO:K15100] | |
| H02305 |
RERE 関連神経発達症候群 脳、眼および心臓の奇形を伴う（または伴わない）神経発達疾患 |
RERE-related neurodevelopmental syndrome, also known as neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH), is a rare autosomal dominant disorder. Patients with ... | 精神及び行動の障害 | RERE [HSA:473] [KO:K05628] | |
| H02306 | 関節脱臼を伴う軟骨異形成症 GRAPP 型 | Chondrodysplasia with joint dislocations, GPAPP type is characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism. It is caused ... | 先天奇形 | IMPAD1 [HSA:54928] [KO:K15759] | |
| H02307 | 筋ジストロフィー・ジストログリカノパチー | Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... | 先天性代謝異常症 |
POMT1 [HSA:10585] [KO:K00728] POMT2 [HSA:29954] [KO:K00728] POMGNT1 [HSA:55624] [KO:K09666] FKTN [HSA:2218] [KO:K19872] FKRP [HSA:79147] [KO:K19873] LARGE [HSA:9215] [KO:K09668] ISPD [HSA:729920] [KO:K21031] GTDC2 [HSA:84892] [KO:K18207] DAG1 [HSA:1605] [KO:K06265] TMEM5 [HSA:10329] [KO:K21052] B3GALNT2 [HSA:148789] [KO:K09654] POMK [HSA:84197] [KO:K17547] B3GNT1 [HSA:11041] [KO:K21032] GMPPB [HSA:29925] [KO:K00966] |
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| H02308 | ICF 症候群 | Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a genetically heterogeneous autosomal recessive disorder. It is characterized by recurrent and often fatal respiratory ... | 免疫系疾患 |
(ICF1) DNMT3B [HSA:1789] [KO:K17399] (ICF2) ZBTB24 [HSA:9841] [KO:K10503] (ICF3) CDCA7 [HSA:83879] [KO:K23408] (ICF4) HELLS [HSA:3070] [KO:K19001] |
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| H02309 | アデノシンデアミナーゼ欠損症 | Adenosine deaminase (ADA) deficiency causes severe combined immunodeficiency disease (SCID). Profound lymphopenia in this disorder has been attributed to toxic levels of ADA substrates, particularly deoxyadenosine ... | 免疫系疾患 | ADA [HSA:100] [KO:K01488] | |
| H02310 | 尿細管性アシドーシス | Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. RTA can be subcategorized into different ... | 泌尿器系疾患 |
(type 1) SLC4A1 [HSA:6521] [KO:K06573] (type 1) ATP6V1B1 [HSA:525] [KO:K02147] (type 1) ATP6V0A4 [HSA:50617] [KO:K02154] (type 2) SLC4A4 [HSA:8671] [KO:K13575] (type 3) CA2 [HSA:760] [KO:K18245] (type 4) SCNN1A [HSA:6337] [KO:K04824] (type 4) SCNN1B [HSA:6338] [KO:K04825] (type 4) SCNN1G [HSA:6340] [KO:K04827] (type 4) NR3C2 [HSA:4306] [KO:K08555] (type 4) WNK1 [HSA:65125] [KO:K08867] (type 4) WNK4 [HSA:65266] [KO:K08867] (type 4) KLHL3 [HSA:26249] [KO:K10443] (type 4) CUL3 [HSA:8452] [KO:K03869] |
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| H02311 | モリブデン補因子欠損症 | Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive disorder that leads to early childhood death. Mutations have been identified in three genes: MOCS1, MOCS2, and GEPH. These mutations ... | 先天性代謝異常症 |
(MOCODA) MOCS1 [HSA:4337] [KO:K20967] (MOCODB1) MOCS2 [HSA:4338] [KO:K03635] (MOCODB2) MOCS3 [HSA:27304] [KO:K11996] (MOCODC) GEPH [HSA:10243] [KO:K15376] |
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| H02312 | グルタチオン合成酵素欠損症 | Glutathione synthetase deficiency (GSD) is a rare autosomal recessive disorder. The clinical phenotype varies widely, and nearly 30 different mutations in the GSS gene have been identified. In severe form ... | 先天性代謝異常症 | GSS [HSA:2937] [KO:K21456] | |
| H02313 | 5-オキソプロリナーゼ欠損症 | 5-Oxoprolinase deficiency is an extremely rare disorder of the gamma-glutamyl cycle, that represents the primary pathway for glutathione synthesis and degradation. Recently, the OPLAH mutation was reported ... | 先天性代謝異常症 | OPLAH [HSA:26873] [KO:K01469] | |
| H02314 | 先天性副腎機能不全（部分的又は完全な 46,XY 性転換を伴う) | The cholesterol side-chain cleavage enzyme P450scc, encoded by CYP11A1, catalyzes the conversion of cholesterol to pregnenolone in the first step of steroid hormone biosynthesis. CYP11A1 deficiency is ... | 内分泌代謝疾患 | CYP11A1 [HSA:1583] [KO:K00498] | |
| H02315 | チトクロム P450 オキシドレダクターゼ欠損によるステロイド産生異常 | Cytochrome P450 oxidoreductase (POR) deficiency is an autosomal recessive disorder with a broad phenotypic spectrum including skeletal malformations resembling the Antley-Bixler syndrome phenotype and ... | 内分泌代謝疾患 | POR [HSA:5447] [KO:K00327] | |
| H02316 | NR5A1 に関連する副腎機能不全 | NR5A1, also termed steroidogenic factor 1 (SF-1), is a nuclear receptor and a key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis. There are some known mutations ... | 内分泌代謝疾患 | NR5A1 [HSA:2516] [KO:K08560] |