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 |
|---|---|---|---|---|---|
| H02227 | 前頭・骨幹端異形成症 | Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia affecting the long bones and skull. The cause of FMD in some individuals is mutations in the X-linked gene, FLNA. Recently ... | 先天奇形 |
(FMD1) FLNA [HSA:2316] [KO:K04437] (FMD2) MAP3K7 [HSA:6885] [KO:K04427] |
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| H02228 | 先端短肢異形成症 | Acromicric dysplasia (ACMICD) is a rare autosomal dominant bone dysplasia characterised by severe short stature, short hands and feet, joint limitations, skin thickening, and distinct facial features. ... | 先天奇形 | FBN1 [HSA:2200] [KO:K06825] | |
| H02229 |
肢端骨異形成 肢端骨異形成および色素異常 |
Terminal osseous dysplasia (TOD) is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma with onset in ... | 先天奇形 | FLNA [HSA:2316] [KO:K04437] | |
| H02230 |
Ｘ連鎖心臓弁異形成 Ｘ連鎖粘液腫性心臓弁ジストロフィー |
X-linked cardiac valvular dysplasia (CVDPX) is characterized by mitral valve dystrophy frequently associated with degeneration of the aortic valves affecting males and, to a lower severity, females. It ... | 先天奇形 | FLNA [HSA:2316] [KO:K04437] | |
| H02231 | 網膜や黄斑の変性を伴う視神経乳頭異常 | Optic disc anomalies with retinal and/or macular dystrophy (ODRMD) is an autosomal recessive ocular disorder. It has been reported that a homozygous SIX6 mutation is associated with optic disc anomalies ... | 先天奇形 | SIX6 [HSA:4990] [KO:K19473] | |
| H02232 |
CAGSSS 症候群 白内障・成長ホルモン分泌不全症・感覚ニューロパチー・感音性難聴および骨異形成症 |
Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) is a very rare autosomal recessive disorder. It has been reported that mutations in ... | 先天奇形 | IARS2 [HSA:55699] [KO:K01870] | |
| H02233 | Alazami 症候群 | Alazami syndrome is an autosomal recessive disease characterized by primordial dwarfism, distinct dysmorphic features, and severe intellectual disability. Mutations in LARP7, chaperone of 7SK ncRNA, cause ... | 先天奇形 | LARP7 [HSA:51574] [KO:K15191] | |
| H02234 | Hamamy 症候群 | Hamamy syndrome (HMMS) is a rare autosomal recessive syndrome comprising severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures ... | 先天奇形 | IRX5 [HSA:10265] [KO:K24889] | |
| H02235 | 病的肥満および精子形成不全 | Morbid obesity and spermatogenic failure (MOSPGF) is an autosomal recessive morbid obesity syndrome. Mutations in CEP19, the gene encoding the ciliary protein, have been identified in patients. | 内分泌代謝疾患 | CEP19 [HSA:84984] [KO:K16801] | |
| H02236 | Keppen-Lubinsky 症候群 | Keppen-Lubinsky syndrome (KPLBS) is a rare condition characterized by severely reduced facial adipose tissue and thin facial skin combined with severe developmental delay and hypertonia. KPLBS is caused ... | 先天性代謝異常症 | KCNJ6 [HSA:3763] [KO:K05000] | |
| H02237 | AMP デアミナーゼ欠損症 | AMP deaminase is widely distributed in various mammalian cells and tissue-specific isozymes were found. Muscle specific AMP deaminase is also known as myoadenylate deaminase (MAD). MAD deficiency (MADD) ... | 先天性代謝異常症 |
AMPD1 [HSA:270] [KO:K01490] AMPD3 [HSA:272] [KO:K01490] |
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| H02238 | 先天的易骨折性を伴う脊髄性筋萎縮症 | Spinal muscular atrophy with congenital bone fractures (SMABF) is a rare autosomal recessive disorder. It has been reported that mutations in two genes (TRIP4 and ASCC1) are associated with this disease ... | 筋骨格疾患 |
(SMABF1) TRIP4 [HSA:9325] [KO:K23398] (SMABF2) ASCC1 [HSA:51008] [KO:K18666] |
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| H02239 | エーラス・ダンロス症候群 脊椎異形成型 | Ehlers-Danlos syndrome, spondylodysplastic type (EDSSPD) is a rare autosomal recessive connective tissue disorder, caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. The majority of EDSSPD patients ... | 先天奇形 |
(EDSSPD1) B4GALT7 [HSA:11285] [KO:K00733] (EDSSPD2) B3GALT6 [HSA:126792] [KO:K00734] (EDSSPD3) SLC39A13 [HSA:91252] [KO:K14719] |
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| H02240 | エーラス・ダンロス症候群 歯周型 | Ehlers-Danlos syndrome periodontal type (EDSPD) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings ... | 先天奇形 |
(EDSPD1) C1R [HSA:715] [KO:K01330] (EDSPD2) C1S [HSA:716] [KO:K01331] |
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| H02241 | エーラス・ダンロス症候群 心臓弁型 | Ehlers-Danlos syndrome cardiac valvular type (EDSCV) is a rare autosomal recessive form of EDS. In addition to the usual skin and joint involvement, patients appear to be at increased risk for cardiac ... | 先天奇形 | (EDSCV) COL1A2 [HSA:1278] [KO:K06236] | |
| H02242 |
エーラス・ダンロス症候群 血管型 エーラス・ダンロス症候群 IV 型 |
Ehlers-Danlos syndrome vascular type (EDSVASC) is an autosomal dominant life-threatening connective tissue disorder. EDSVASC causes severe fragility of connective tissues with arterial and gastrointestinal ... | 先天奇形 | (EDSVASC) COL3A1 [HSA:1281] [KO:K19720] | |
| H02243 | エーラス・ダンロス症候群 多発関節弛緩型 | Ehlers-Danlos syndrome arthrochalasia type (EDSARTH) is a rare autosomal dominant disorder that is characterized by severe generalized joint hypermobility, with recurrent joint subluxations and luxations ... | 先天奇形 |
(EDSARTH1) COL1A1 [HSA:1277] [KO:K06236] (EDSARTH2) COL1A2 [HSA:1278] [KO:K06236] |
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| H02244 |
エーラス・ダンロス症候群 皮膚脆弱型 エーラス・ダンロス症候群 VIIC 型 |
Ehlers-Danlos syndrome dermatosparaxis type (EDSDERMS) is an autosomal recessive connective tissue disorder characterized by an extreme skin fragility. It is resulting from mutations inactivating ADAMTS2 ... | 先天奇形 | (EDSDERMS) ADAMTS2 [HSA:9509] [KO:K08618] | |
| H02245 | エーラス・ダンロス症候群 後側彎型 | Ehlers-Danlos syndrome kyphoscoliosis type (EDSKSCL) is an autosomal recessive connective tissue disorder characterized by severe muscular hypotonia and kyphoscoliosis at birth, joint hypermobility, and ... | 先天奇形 |
(EDSKSCL1) PLOD1 [HSA:5351] [KO:K00473] (EDSKSCL2) FKBP14 [HSA:55033] [KO:K09577] |
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| H02246 | エーラス・ダンロス症候群 筋拘縮型 | Ehlers-Danlos syndrome musculocontractural type (EDSMC) is an autosomal recessive disorder characterized by connective tissue fragility, craniofacial abnormalities, congenital contractures, and developmental ... | 先天奇形 |
(EDSMC1) CHST14 [HSA:113189] [KO:K08105] (EDSMC2) DSE [HSA:29940] [KO:K01794] |
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| H02247 |
エーラス・ダンロス症候群 ミオパチー型 ベスレムミオパチー 2 型 |
Ehlers-Danlos syndrome myopathic type (EDSMYP), also known as Bethlem myopathy 2 (BTHLM2), shows clinical features of both a myopathy as well as of a disorder of connective tissue. Although the symptoms ... | 先天奇形 | COL12A1 [HSA:1303] [KO:K08132] | |
| H02248 | MEND 症候群 | MEND syndrome (male EBP disorder with neurological defects) is an X-linked recessive condition in males with a phenotype remarkable for Dandy-Walker like congenital brain malformation, cataracts, collodion ... | 先天奇形 | EBP [HSA:10682] [KO:K01824] | |
| H02249 | Primrose 症候群 | Primrose syndrome (PRIMS) is a rare genetic disorder, characterized by dysmorphic facial features, macrocephaly, and intellectual disability, as well as large body size, height and weight, and calcified ... | 先天奇形 | ZBTB20 [HSA:26137] [KO:K10501] | |
| H02250 | 早期発症型ビタミン B6 依存性てんかん | Early-onset vitamin B6-dependent epilepsy (EPVB6D) is an autosomal recessive disease, recently associated to mutations in PLPBP (PROSC) gene. PLPBP encodes a protein involved in pyridoxal phosphate (PLP) ... | 神経系疾患 | PLPBP [HSA:11212] [KO:K06997] | |
| H02251 |
石灰化と嚢胞を伴う脳網膜微小血管症 コートプラス症候群 |
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is a rare and highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal ... | 神経系疾患 |
(CRMCC1) CTC1 [HSA:80169] [KO:K23311] (CRMCC2) STN1 [HSA:79991] [KO:K23312] (CRMCC3) POT1 [HSA:25913] [KO:K11109] |
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| H02252 | PEHO 症候群 | The PEHO syndrome (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy) is a rare autosomal recessive neurodegenerative disorder that presents in infancy with hypotonia, seizures ... | 神経系疾患 | (PEHO) ZNHIT3 [HSA:9326] [KO:K23309] | |
| H02253 | Beaulieu-Boycott-Innes 症候群 | Beaulieu-Boycott-Innes syndrome (BBIS) is a rare autosomal recessive neurodevelopmental disorder with intellectual disability associated with mutations in THOC6. The clinical presentation includes moderate ... | 先天奇形 | THOC6 [HSA:79228] [KO:K13175] | |
| H02254 | 頭蓋縫合早期癒合症および歯の異常 | Craniosynostosis and dental anomalies (CRSDA) is an autosomal recessive form of craniosynostosis associated with delayed tooth eruption, maxillary hypoplasia, supernumerary teeth, and digit abnormalities ... | 先天奇形 | IL11RA [HSA:3590] [KO:K05056] | |
| H02255 |
FDLAB 症候群 Traboulsi 症候群 |
Facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB) syndrome, also known as Traboulsi syndrome, is an autosomal recessive disorder. FDLAB syndrome ... | 先天奇形 | ASPH [HSA:444] [KO:K00476] | |
| H02256 |
先天性第VII因子欠乏症 低プロコンバーチン血症 |
FVII deficiency is a rare autosomal recessive hemorrhagic condition of variable severity. FVII is a zymogen for a vitamin K-dependent serine protease essential for the initiation of blood coagulation. ... | 血液疾患 | F7 [HSA:2155] [KO:K01320] |