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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| H02167 | リンパ浮腫・二重睫毛症候群 | Lymphedema-distichiasis syndrome (LD) is an autosomal dominant disorder, characterized by late childhood or pubertal onset lymphedema of the limbs and double row of eyelashes. LD has been reported to be ... | 先天奇形 | FOXC2 [HSA:2303] [KO:K09396] | |
| H02168 | 乏毛症・リンパ浮腫・毛細血管拡張症症候群 | Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is an extremely rare lymphedema syndrome. The transcription factor SOX18 was shown to play a role in the development of hair, blood vessels and lymphatic ... | 先天奇形 | SOX18 [HSA:54345] [KO:K09270] | |
| H02169 | Hennekam 症候群 | Hennekam lymphangiectasia-lymphedema syndrome (HKLLS) is characterized by congenital lymphedema, lymphangiectasia, unusual facial morphology, and variable intellectual disabilities. Mutations in CCBE1 ... | 先天奇形 |
(HKLLS1) CCBE1 [HSA:147372] [KO:K19638] (HKLLS2) FAT4 [HSA:79633] [KO:K16669] (HKLLS3) ADAMTS3 [HSA:9508] [KO:K08619] |
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| H02170 | 小眼球症 (症候群性) | Microphthalmia can be defined as a reduced size of the globe in the orbit. More than 50% of individuals with microphthalmia have extraocular findings, most commonly involving the limbs, musculoskeletal ... | 先天奇形 |
(MCOPS1) NAA10 [HSA:8260] [KO:K20791] (MCOPS2) BCOR [HSA:54880] [KO:K23215] (MCOPS3) SOX2 [HSA:6657] [KO:K16796] (MCOPS5) OTX2 [HSA:5015] [KO:K18490] (MCOPS6) BMP4 [HSA:652] [KO:K04662] (MCOPS7) HCCS [HSA:3052] [KO:K01764] (MCOPS9) STRA6 [HSA:64220] [KO:K23088] (MCOPS11) VAX1 [HSA:11023] [KO:K09318] (MCOPS12) RARB [HSA:5915] [KO:K08528] (MCOPS13) HMGB3 [HSA:3149] [KO:K11296] (MCOPS14) MAB21L2 [HSA:10586] [KO:K23092] (MCOPS15) TENM3 [HSA:55714] [KO:K24473] (MCOPS16) RAX [HSA:30062] [KO:K09332] |
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| H02171 | ロシオウイルス脳炎 | Rocio viral encephalitis is an infection of the central nervous system caused by Rocio virus (ROCV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. ROCV ... | ウイルス感染症 | ||
| H02172 | 真性小眼球 | Nanophthalmos is a disorder characterized by phenotypically small but structurally normal eyes. Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance ... | 先天奇形 |
(NNO2) MFRP [HSA:83552] [KO:K24359] (NNO4) TMEM98 [HSA:26022] [KO:K25292] |
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| H02173 | アレナウイルス性出血熱 | Arenaviral hemorrhagic fever is a group of infectious diseases caused by Arenaviruses, which are in the genus Mammarenavirus, the family Arenaviridae of -ssRNA viruses. Arenaviruses have a natural reservoir ... | ウイルス感染症 | ||
| H02174 | 精巣形成不全を伴う乳児突然死症候群 | Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is an autosomal recessive syndrome that was first identified in an Old Order Amish community. Infants with SIDDT appear normal at birth ... | 神経系疾患 | TSPYL1 [HSA:7259] [KO:K11284] | |
| H02175 | 尿道下裂 | Hypospadias (HYSP) is defined as a defect in the development of the ventral aspect of the penis along with an ectopic opening of the urethral meatus. It is thought to be due to a combination of genetic ... | 先天奇形 |
(HYSP1) AR [HSA:367] [KO:K08557] (HYSP2) MAMLD1 [HSA:10046] [KO:K19512] |
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| H02176 | 停留精巣 | Cryptorchidism is the absence of at least one testicle from the scrotum. It is the most common birth defect involving the male genitalia. It is associated with a higher risk of developing testicular tumors ... | 先天奇形 | INSL3 [HSA:3640] [KO:K21999] | |
| H02177 | アンドロゲン不応症 | Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals ... | 先天奇形 | AR [HSA:367] [KO:K08557] | |
| H02178 | MASA 症候群 | MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs) is an X-linked disorder. The main clinical features are summarised by the acronym. Mutations in the gene for neural cell ... | 神経系疾患 | L1CAM [HSA:3897] [KO:K06550] | |
| H02179 | Rippling muscle disease | Rippling muscle disease (RMD) is an autosomal-dominant disorder of skeletal muscle characterized by signs of increased muscle irritability, such as percussion-induced rapid contraction (PIRC), percussion-induced ... | 神経系疾患; 筋骨格疾患 | CAV3 [HSA:859] [KO:K12959] | |
| H02180 | McKusick-Kaufman 症候群 | McKusick-Kaufman syndrome (MKKS) is a rare, autosomal recessive syndrome reported mainly in infants and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital ... | 先天奇形 | MKKS [HSA:8195] [KO:K09492] | |
| H02181 |
特発性高 CK 血症 突発性高クレアチンキナーゼ血症 |
Persistent elevation of serum creatine kinase (hyperCKemia) in individuals with normal neurological and laboratory examinations has been called idiopathic hyperCKemia. HyperCKemia usually accompanies muscle ... | 先天性代謝異常症 | CAV3 [HSA:859] [KO:K12959] | |
| H02182 | 遠位型ミオパチー, Tateyama タイプ | Distal myopathy, Tateyama type is a peculiar form of distal myopathy associated with reduced caveolin-3 in muscle fibers in which the muscle atrophy is restricted to the small muscles of the hands and ... | 神経系疾患; 筋骨格疾患 | CAV3 [HSA:859] [KO:K12959] | |
| H02183 |
Parastremmatic dwarfism 歪捻肢骨異形成症 |
Parastremmatic dwarfism is a rare disorder, caused by TRPV4 mutations. Clinical symptoms include shortening of the trunk because of platyspondyly and scoliosis, as well as flexum deformity in both knees ... | 先天奇形 | TRPV4 [HSA:59341] [KO:K04973] | |
| H02184 | 変容性骨異形成症 | Metatropic dysplasia is an autosomal dominant skeletal dysplasia characterized by short extremities, a short trunk with progressive kyphoscoliosis, and craniofacial abnormalities that include a prominent ... | 先天奇形 | TRPV4 [HSA:59341] [KO:K04973] | |
| H02185 | 脊椎骨幹端異形成 | The spondylometaphyseal dysplasias (SMD) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. Aside from the most common SMD Kozlowski ... | 先天奇形 |
(SMDK) TRPV4 [HSA:59341] [KO:K04973] (SMDALG) COL2A1 [HSA:1280] [KO:K19719] (SMDCF) FN1 [HSA:2335] [KO:K05717] (SMDAX) CFAP410 [HSA:755] [KO:K23456] (SMDCD) PLCB3 [HSA:5331] [KO:K05858] (SMDP) PRKG2 [HSA:5593] [KO:K19477] |
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| H02186 |
脊椎骨端異形成 Maroteaux 型 偽モルキオ症候群 2型 |
Spondylo-epiphyseal dysplasia (SED), Maroteaux type, also known as pseudo-Morquio syndrome type 2, is an autosomal dominant chondrodysplasia characterized by short stature with marked shortening of the ... | 先天奇形 | TRPV4 [HSA:59341] [KO:K04973] | |
| H02187 | 脊椎骨端骨幹端異形成 | Spondyloepimetaphyseal dysplasia (SEMD) is a heterogeneous group of skeletal dysplasias (dwarfing disorders) characterized by abnormal epiphyses, with varying degrees of metaphyseal irregularities, flattened ... | 先天奇形 |
(SEMDSTWK) COL2A1 [HSA:1280] [KO:K19719] (SEMDSH) DDRGK1 [HSA:65992] [KO:K23344] (SEMDFA) RSPRY1 [HSA:89970] [KO:K23332] (SEMDDR) UFSP2 [HSA:55325] [KO:K01376] (SEMDIST) RPL13 [HSA:6137] [KO:K02873] (SEMDIK) SIK3 [HSA:23387] [KO:K19009] (SEMDAG) ACAN [HSA:176] [KO:K06792] (SEMDG) NANS [HSA:54187] [KO:K05304] (SEMDSP) TONSL [HSA:4796] [KO:K09257] (SEMDX) BGN [HSA:633] [KO:K08118] (SEMDM) MMP13 [HSA:4322] [KO:K07994] (SEMDHL) AIFM1 [HSA:9131] [KO:K04727] (SEMDGC) ERI1 [HSA:90459] [KO:K18416] (SEMDLSL) CCN2 [HSA:1490] [KO:K06827] |
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| H02188 |
Watson 症候群 カフェオレ斑を伴う肺動脈弁狭窄 |
Watson syndrome (WTSN) is an autosomal dominant condition characterized by the presence of pulmonary valvular stenosis, cafe au lait spots, and mild mental retardation. These features are also sometimes ... | 先天奇形 | NF1 [HSA:4763] [KO:K08052] | |
| H02189 | 神経線維腫性ヌーナン症候群 | Neurofibromatosis-Noonan syndrome (NFNS) presents combined characteristics of both autosomal dominant disorders, neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). NF1 is characterized by neurofibromas ... | 先天奇形 | NF1 [HSA:4763] [KO:K08052] | |
| H02190 |
CBL 症候群 若年性骨髄単球性白血病を伴うヌーナン様症候群 |
CBL is a ubiquitously expressed E3 ubiquitin ligase that negatively regulates intracellular signalling downstream of receptor tyrosine kinases. Missense CBL mutations cause impaired growth, developmental ... | 先天奇形 | CBL [HSA:867] [KO:K04707] | |
| H02191 | 成長期脱毛を伴うヌーナン様症候群 | Noonan-like syndrome with loose anagen hair (NSLH) is characterized by features similar to those observed in Noonan syndrome. Besides, the most characteristic feature is the hair anomaly, including easily ... | 先天奇形 |
(NSLH1) SHOC2 [HSA:8036] [KO:K19613] (NSLH2) PPP1CB [HSA:5500] [KO:K06269] |
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| H02192 | 良性反復性肝内胆汁うっ滞 | Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by intermittent episodes of severe cholestatic jaundice. It is caused by mutations in the ... | 消化器系疾患 |
(BRIC1) ATP8B1 [HSA:5205] [KO:K01530] (BRIC2) ABCB11 [HSA:8647] [KO:K05664] |
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| H02193 | 妊娠性肝内胆汁うっ滞 | Intrahepatic cholestasis of pregnancy (ICP), also called obstetric cholestasis, is the most common pregnancy-specific liver disease. Classic symptoms include generalized pruritus that commonly includes ... | 消化器系疾患 |
(ICP1) ATP8B1 [HSA:5205] [KO:K01530] (ICP3) ABCB4 [HSA:5244] [KO:K05659] |
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| H02194 | North American Indian childhood cirrhosis | North American Indian childhood cirrhosis (NAIC) is a severe autosomal-recessive intrahepatic cholestasis found in aboriginal children from northwestern Quebec. It typically presents with transient neonatal ... | 消化器系疾患 | CIRH1A [HSA:84916] [KO:K14548] | |
| H02195 | MEHMO 症候群 | MEHMO syndrome is a rare X-linked syndrome characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It has been reported that MEHMO syndrome is associated with ... | 先天奇形 | EIF2S3 [HSA:1968] [KO:K03242] | |
| H02196 | X 連鎖性クレアチン欠乏症候群 | Creatine deficiency syndromes are inborn errors of metabolism resulting in a progressive encephalopathy with early onset mental retardation, extrapyramidal features, and drug resistant epilepsy. X-linked ... | 先天性代謝異常症 | SLC6A8 [HSA:6535] [KO:K05041] |