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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| H00963 | 先天遺伝性角膜内皮変性症 | Congenital hereditary endothelial dystrophy (CHED) is a rare inheritable disorder of the corneal endothelium characterized by bilateral symmetric corneal clouding (edema) with varied severity from mild ... | 神経系疾患 | SLC4A11 [HSA:83959] [KO:K13862] | |
| H00964 | Poor metabolism of thiopurines | Poor metabolism of thiopurines (THPM) is inherited severe intolerance to thiopurine toxicity, caused by mutation in the TPMT gene. TPMT is part of a cascade of enzymes responsible for the metabolism of ... | 先天性代謝異常症 |
(THPM1) TPMT [HSA:7172] [KO:K00569] (THPM2) NUDT15 [HSA:55270] [KO:K03574] |
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| H00965 | RAPADILINO 症候群 | RAPADILINO syndrome is an abbreviation of its hallmark features: radial hypo-/aplasia, patellae hypo-/aplasia and cleft or highly arched palate, diarrhoea and dislocated joints, little size and limb malformation ... | 先天奇形 | RECQL4 [HSA:9401] [KO:K10730] | |
| H00966 | AICA-ribosiduria | AICA-ribosiduria is a neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Defects of purine metabolism are characterised by abnormal concentrations of substrates ... | 先天性代謝異常症 | ATIC [HSA:471] [KO:K00602] | |
| H00967 | アディポネクチン欠損 | Adiponectin is a major adipocyte-derived protein with insulin-sensitizing, anti-inflammatory and anti-atherogenic properties. Adiponectin deficiency (ADPOD) related to several obesity related malignancies ... | 先天性代謝異常症 | ADIPOQ [HSA:9370] [KO:K07296] | |
| H00968 | Raine 症候群 | Raine syndrome or lethal osteosclerotic bone dysplasia is an autosomal recessive disorder characterized by generalized osteosclerosis and characteristic facial dysmorphism. Death in the neonatal period ... | 先天奇形 | FAM20C [HSA:56975] [KO:K21958] | |
| H00969 | Skeletal defects, genital hypoplasia, and mental retardation | This syndrome is associated with mental retardation, craniofacial dysmorphism, disproportionate short stature, and genital hypoplasia. Skeletal dysplasia includes absence of the thumbs, hypoplasia of the ... | 先天奇形 | ZBTB16 [HSA:7704] [KO:K10055] | |
| H00970 | 若年性原発性側索硬化症 | Juvenile primary lateral sclerosis (JPLS) is a very rare progressive paralytic disorder characterized by increasing weakness and stiffness of muscles in the arms, legs and face. Although primary lateral ... | 神経変性疾患 | ALS2 [HSA:57679] [KO:K04575] | |
| H00971 |
全色盲 杆体１色覚 |
Achromatopsia (Rod monochromacy/ACHM) is an autosomal recessive retinal dystrophy with a prevalence of 1 in 33,000 individuals. It is characterized by low visual acuity, photophobia, nystagmus, difficulty ... | 神経系疾患 |
(ACHM2) CNGA3 [HSA:1261] [KO:K04950] (ACHM3) CNGB3 [HSA:54714] [KO:K04953] (ACHM4) GNAT2 [HSA:2780] [KO:K04631] (ACHM5) PDE6C [HSA:5146] [KO:K13757] (ACHM6) PDE6H [HSA:5149] [KO:K13760] (ACHM7) ATF6 [HSA:22926] [KO:K09054] |
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| H00972 | 内分泌系-脳-骨異形成症候群 | Endocrine-cerebro-osteodysplasia syndrome is a neonatal lethal recessive disorder found in an Old Order Amish pedigree. This syndrome comprises osteodysplasia, cerebral anomalies, and endocrine gland hypoplasia ... | 先天奇形 | ICK [HSA:22858] [KO:K08828] | |
| H00973 | 遅視症 | Bradyopsia is a condition in which patients show a prolonged response suppression on electroretinogram and have delayed adapting to sudden changes in luminance levels, photophobia, and difficulties seeing ... | 神経系疾患 |
(PERRS1) RGS9 [HSA:8787] [KO:K13765] (PERRS2) RGS9BP [HSA:388531] [KO:K25405] |
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| H00974 | 青錐体全色覚異常 | Blue cone monochromacy (also known as X-linked recessive incomplete achromatopsia) is a congenital stationary cone dysfunction syndrome characterized by the absence of both red and green cone sensitivities ... | 神経系疾患 |
OPN1LW [HSA:5956] [KO:K04251] OPN1MW [HSA:2652] [KO:K04251] |
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| H00975 |
ロタウイルス腸炎 ロタウイルス胃腸炎 |
Rotaviral enteritis is the main diarrheal disease in infants caused by rotavirus infection. Rotaviruses are members of the Reoviridae family and contain genomes consisting of eleven segments of double-stranded ... | ウイルス感染症 | ||
| H00976 | 色覚異常 | Colorblindness is the inability or decreased ability to perceive color differences. Dichromacy is a condition characterized by reduced dimension of color vision in which one of the three basic color mechanisms ... | 神経系疾患 |
(CBP) OPN1LW [HSA:5956] [KO:K04251] (CBD) OPN1MW [HSA:2652] [KO:K04251] (CBT) OPN1SW [HSA:611] [KO:K04252] |
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| H00977 | 毛髪鼻指節骨症候群 | Trichorhinophalangeal syndromes (TRPS) is a rare peripheral dysostosis with mainly autosomal dominant inheritance. Three different forms of TRPS are known: type I (TRPS1), type II (TRPS2) and type III ... | 先天奇形 |
(TRPS1_2_3) TRPS1 [HSA:7227] [KO:K22040] (TRPS2) EXT1 [HSA:2131] [KO:K02366] |
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| H00978 | 血小板減少症 | Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. Inherited syndromes are ... | 血液疾患 |
(THC1) WAS [HSA:7454] [KO:K05747] (THC2) ANKRD26 [HSA:22852] [KO:K25138] (THC3) FYB1 [HSA:2533] [KO:K17698] (THC4) CYCS [HSA:54205] [KO:K08738] (THC5) ETV6 [HSA:2120] [KO:K03211] (THC6) SRC [HSA:6714] [KO:K05704] (THC7) IKZF5 [HSA:64376] [KO:K09220] (THC8) ACTB [HSA:60] [KO:K05692] (THC9) THPO [HSA:7066] [KO:K06854] (THC10) PTPRJ [HSA:5795] [KO:K05698] (THC11) RAP1B [HSA:5908] [KO:K07836] (THC12) GNE [HSA:10020] [KO:K12409] (THC13) GALE [HSA:2582] [KO:K01784] (XLTT/XLTDA) GATA1 [HSA:2623] [KO:K09182] (THAMY) MPIG6B [HSA:80739] [KO:K25640] (FPDMM) RUNX1 [HSA:861] [KO:K08367] |
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| H00979 |
尾退行症候群 前方仙骨部髄膜瘤 |
Sacral defect with anterior meningocele (SDAM), also known as caudal regression syndrome, is a rare malformation that represents a spectrum of caudal anomalies. Clinical findings include varying degrees ... | 先天奇形 | VANGL1 [HSA:81839] [KO:K04510] | |
| H00980 | Nevo 症候群 | Nevo syndrome is a rare autosomal recessive disorder characterized by perinatal overgrowth, joint laxity, kyphosis, muscular hypotonia, wrist drop, spindle shaped fingers, and volar edema. | 先天奇形 | PLOD [HSA:5351] [KO:K00473] | |
| H00981 | ビタミン E 欠乏による運動失調症 | Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease caused by mutations in the alpha tocopherol transfer protein (TTPA) gene. It causes ataxia and peripheral ... | 先天性代謝異常症 | TTPA [HSA:7274] [KO:K24455] | |
| H00982 | 遺伝性鉄芽球性貧血 | Sideroblastic anemias are a group of disorders characterized by anemia with the emergence of ring sideroblasts in the bone marrow. Inherited sideroblastic anemia is a rare and heterogeneous disease caused ... | 血液疾患 |
(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] |
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| H00983 | 先天性アルファ2プラスミンインヒビター欠損症 | Alpha-2-plasmin inhibitor (a2-PI) deficiency is an autosomal recessive disorder resulting in severe hemorrhagic diathesis. Mutations in SERPINF2 gene cause a2-PI deficiency. A2-PI acts as the primary inhibitor ... | 血液疾患 | SERPINF2 [HSA:5345] [KO:K03983] | |
| H00984 | MHCクラスI欠損症 | MHC class I deficiency (MHC1D) is a rare recessive genetic immune disorder endorsed by a partial or complete absence of major histocompatibility complex (MHC) or human leukocyte antigen (HLA) expression ... | 免疫系疾患 |
(MHC1D1) TAP1 [HSA:6890] [KO:K05653] (MHC1D2) TAP2 [HSA:6891] [KO:K05654] (MHC1D3) TAPBP [HSA:6892] [KO:K08058] (MHC1D4) B2M [HSA:567] [KO:K08055] |
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| H00985 | MHCクラスII欠損症 | Bare lymphocyte syndrome (BLS) is a rare recessive genetic immune disorder endorsed by a partial or complete absence of major histocompatibility complex (MHC) or human leukocyte antigen (HLA) expression ... | 免疫系疾患 |
(MHC2D1) CIITA [HSA:4261] [KO:K08060] (MHC2D2) RFXANK [HSA:8625] [KO:K08062] (MHC2D3/5) RFX5 [HSA:5993] [KO:K08061] (MHC2D4) RFXAP [HSA:5994] [KO:K08063] |
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| H00986 | 多発性翼状片症候群 | The multiple pterygium syndromes (MPS) are a spectrum of phenotypically heterogenous disorders that can be divided into prenatally lethal (LMPS) and nonlethal Escobar (EVMPS) types. The clinical features ... | 先天奇形 |
(LMPS, EVMPS) CHRNG [HSA:1146] [KO:K04818] (LMPS) CHRNA1 [HSA:1134] [KO:K04803] (LMPS) CHRND [HSA:1144] [KO:K04816] |
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| H00987 | 胎児無動変形シークエンス | Fetal akinesia deformation sequence (FADS) is a heterogeneous disorder characterized by impaired fetal movement and resulting developmental defects. Fetal movement is essential for normal fetal development ... | 先天奇形 |
(FADS1) MUSK [HSA:4593] [KO:K05129] (FADS2) RAPSN [HSA:5913] [KO:K24924] (FADS3) DOK7 [HSA:285489] [KO:K24038] (FADS4) NUP88 [HSA:4927] [KO:K14318] |
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| H00988 |
エンテロキナーゼ欠損症 エンテロペプチダーゼ欠損症 |
Enterokinase deficiency is autosomal recessive defect leading to severe failure to thrive. Enterokinase is a serine protease of the intestinal brush border in the proximal small intestine. It activates ... | 先天性代謝異常症 | TMPRSS15 [HSA:5651] [KO:K01316] | |
| H00989 | Mohr-Tranebjaerg 症候群 | Mohr-Tranebjaerg syndrome is an X-linked recessive condition characterized by progressive postlingual sensorineural hearing impairment that begin in childhood associated by dystonia and optic atrophy. ... | 神経系疾患 | TIMM8A [HSA:1678] [KO:K17780] | |
| H00990 |
アーミッシュ型小頭症 チアミン代謝異常症候群 3 |
Microcephaly, Amish type (MCPHA), also known as thiamine metabolism dysfunction syndrome 3 (THMD3), is a lethal, autosomal recessive condition characterized by severe congenital microcephaly, elevated ... | 先天奇形 | SLC25A19 [HSA:60386] [KO:K15108] | |
| H00991 | MOPD II | Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is an autosomal recessive condition characterized by severe intrauterine and postnatal growth failure, microcephaly, and disproportionate ... | 先天奇形 | PCNT [HSA:5116] [KO:K16481] | |
| H00992 | Seckel 症候群 | Seckel syndrome is a recessively inherited dwarfism characterized by intrauterine growth retardation, proportionate postnatal dwarfism, severe microcephaly, micrognathia, and 'bird-headed' profile. Mental ... | 先天奇形 |
(SCKL1) ATR [HSA:545] [KO:K06640] (SCKL2) RBBP8 [HSA:5932] [KO:K20773] (SCKL4) CENPJ [HSA:55835] [KO:K11502] (SCKL5) CEP152 [HSA:22995] [KO:K16728] (SCKL6) CEP63 [HSA:80254] [KO:K16763] (SCKL7) NIN [HSA:51199] [KO:K16476] (SCKL8) DNA2 [HSA:1763] [KO:K10742] (SCKL9) TRAIP [HSA:10293] [KO:K11985] (SCKL10) NSMCE2 [HSA:286053] [KO:K22756] (SCKL11) CEP295 [HSA:85459] [KO:K26251] |