KEGG MEDICUS 疾患情報 |
Top |
| エントリ | 名称 | 概要 | カテゴリ | パスウェイ | 病因遺伝子 |
|---|---|---|---|---|---|
| H02257 | 先天性第X因子欠乏症 | Congenital factor X deficiency (FXD) is one of the most severe forms of rare bleeding disorders transmitted in autosomal recessive manner. FXD is accompanied by a wide spectrum of clinical presentations ... | 血液疾患 | F10 [HSA:2159] [KO:K01314] | |
| H02258 | 管状凝集体ミオパチー | Tubular aggregate myopathy (TAM) is a hereditary muscle disorder characterized by the presence of tubular aggregates, abnormal structures in the skeletal muscle. It has been reported that activating mutations ... | 筋骨格疾患 |
(TAM1) STIM1 [HSA:6786] [KO:K16059] (TAM2) ORAI1 [HSA:84876] [KO:K16056] |
|
| H02259 | Stormorken 症候群 | Stormorken syndrome is a rare autosomal dominant disease with mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis ... | 血液疾患 | STIM1 [HSA:6786] [KO:K16059] | |
| H02260 |
Chassaing-Lacombe 型軟骨異形成症 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia |
Chondrodysplasia Chassaing-Lacombe type is also known as chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia (CPBHM). It is caused by mutations in HDAC6 and ... | 先天奇形 | HDAC6 [HSA:10013] [KO:K11407] | |
| H02261 |
PEBAT 脳萎縮と薄い脳梁を伴う早期発症進行性脳症 |
Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (PEBAT) is an autosomal recessive neurodevelopmental and neurodegenerative disorder. Clinical features include developmental ... | 神経系疾患 | TBCD [HSA:6904] [KO:K21767] | |
| H02262 |
PEBEL 脳浮腫と白質脳症を伴う早期発症進行性脳症 |
Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL) is an autosomal recessive infancy-onset disease characterized by ataxia, cerebellar edema, spinal myelopathy, ... | 神経系疾患 |
(PABEL1) NAXE [HSA:128240] [KO:K17759] (PABEL2) NAXD [HSA:55739] [KO:K17757] |
|
| H02263 | 非表皮剥離性焦点掌蹠角化症 | Focal nonepidermolytic palmoplantar keratoderma (FNEPPK) is a genetically heterogeneous phenotype characterized by the presence, on the palms and soles, of circumscribed calluses. These can be painful ... | 先天奇形 |
(FNEPPK1) KRT16 [HSA:3868] [KO:K07604] (FNEPPK2) TRPV3 [HSA:162514] [KO:K04972] |
|
| H02264 | 長島型掌蹠角化症 | Palmoplantar keratoderma Nagashima type (PPKN) is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis characterized by diffuse hyperkeratosis with redness, expanding on to the dorsal surfaces ... | 先天奇形 | SERPINB7 [HSA:8710] [KO:K13964] | |
| H02265 |
環状表皮剥離性魚鱗癬 表皮剥離を伴う環状魚鱗癬 |
Annular epidermolytic ichthyosis (AEI), also known as cyclic ichthyosis with epidermolytic hyperkeratosis (CIEHK), is a rare phenotypic variant of bullous congenital ichthyosiform erythroderma. AEI is ... | 先天奇形 |
(AEI1) KRT10 [HSA:3858] [KO:K07604] (AEI2) KRT1 [HSA:3848] [KO:K07605] |
|
| H02266 | Bothnian 型掌蹠角化症 | Palmoplantar keratoderma, Bothnian type (PPKB) is one of the non-epidermolytic palmoplantar keratoderma. PPKB was initially reported to be prevalent in the north of Sweden, along the Gulf of Bothnia. The ... | 先天奇形 | AQP5 [HSA:362] [KO:K09867] | |
| H02267 | Wilson-Turner 症候群 | Wilson-Turner syndrome (WTS) is an X-linked syndrome characterized by mental retardation, obesity, facial features, speech impairment, variable behavioral problems, gynecomastia, hypogonadism, and tapering ... | 先天奇形 | LAS1L [HSA:81887] [KO:K16912] | |
| H02268 | Wieacker-Wolff 症候群 | Wieacker-Wolff syndrome (WRWF) is a rare X-linked disorder characterized by congenital contractures of the feet at birth, muscle atrophy, dyspraxia of the eye, face, and tongue muscles, and mental retardation ... | 筋骨格疾患 | ZC4H2 [HSA:55906] [KO:K24369] | |
| H02269 | 家族性心室頻拍 | Sudden cardiac death resulting from ventricular tachyarrhythmia represents a major healthcare issue. Familial ventricular tachycardia is usually attributable to recognized conditions such as arrhythmogenic ... | 循環器系疾患 | GNAI2 [HSA:2771] [KO:K04630] | |
| H02270 | 空洞視神経乳頭奇形 | Congenital cavitary optic disc anomalies (CODA) include optic disc coloboma, morning glory disc anomaly, optic pit, and the papillorenal syndrome. Recently, a copy number variation upstream of matrix metalloproteinase ... | 先天奇形 | MMP19 [HSA:4327] [KO:K07998] | |
| H02271 | 小脳・顔・歯症候群 | Cerebellofaciodental syndrome (CFDS) is an autosomal recessive disorder characterized by cerebellar hypoplasia and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly ... | 先天奇形 | BRF1 [HSA:2972] [KO:K15196] | |
| H02272 | CAPOS 症候群 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is a rare autosomal dominant neurological disorder. CAPOS is characterized by a relapsing, early ... | 先天奇形 | ATP1A3 [HSA:478] [KO:K01539] | |
| H02273 | 精神遅滞を伴う非進行性小脳失調 | Nonprogressive cerebellar ataxia with mental retardation (CANPMR) is an autosomal dominant disorder with variable combination of mild dysmorphism, intellectual disability, developmental delay, behavioral ... | 神経系疾患 | CAMTA1 [HSA:23261] [KO:K21596] | |
| H02274 | 小脳萎縮、視力障害および精神運動発達遅滞 | Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) is a rare autosomal recessive disorder. Mutations in the EMC1 gene, an integral part of the ER membrane complex (EMC), have ... | 先天奇形 | EMC1 [HSA:23065] [KO:K23562] | |
| H02275 |
バッテン病 Spielmeyer-Vogt 病 若年型神経セロイドリポフスチン症 |
Batten disease, also known as Juvenile neuronal ceroid lipofuscinoses (JNCL), is an autosomal recessive lysosomal disease. It manifests with vision loss, followed by seizures and progressive neurodegeneration ... | 先天性代謝異常症, ライソゾーム病 | CLN3 [HSA:1201] [KO:K12389] | |
| H02276 |
Kufs 病 成人型神経セロイドリポフスチン症 |
Kufs disease, an adult-onset neuronal ceroid lipofuscinosis (NCL), differs from most other forms of NCL because the retina is not involved, and vision is preserved. The clinical presentation has been divided ... | 先天性代謝異常症, ライソゾーム病 |
CLN6 [HSA:54982] [KO:K12359] DNAJC5 [HSA:80331] [KO:K09525] CTSF [HSA:8722] [KO:K01373] |
|
| H02277 |
Santavuori-Haltia 病 乳児型神経セロイドリポフスチン症 |
Santavuori-Haltia disease, also known as the infantile neuronal ceroid lipofuscinosis (INCL), is a rare but one of the most lethal inherited neurodegenerative lysosome storage disorders of childhood. Patients ... | 先天性代謝異常症, ライソゾーム病 | PPT1 [HSA:5538] [KO:K01074] | |
| H02278 |
Jansky-Bielschowsky 病 遅発性乳児型神経セロイドリポフスチン症 |
Jansky-Bielschowsky disease, a classical late infantile neuronal ceroid lipofuscinosis (LINCL), is an autosomal recessive neurodegenerative disease with onset of symptoms between 2 and 4 years of age. ... | 先天性代謝異常症, ライソゾーム病 | TPP1 [HSA:1200] [KO:K01279] | |
| H02279 | カテプシン D 欠損 | Cathepsin D deficiency underlies congenital neuronal ceroid-lipofuscinosis (NCL). It represents the earliest-onset and the most aggressive form of the NCL, leading to extreme brain atrophy and death soon ... | 先天性代謝異常症, ライソゾーム病 | CTSD [HSA:1509] [KO:K01379] | |
| H02280 |
複合性致死性骨軟骨異形成症 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck 型 |
Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG) is characterized by fetal lethality, severe hypomineralization of the entire skeleton and intra-uterine fractures, and multiple ... | 先天奇形 | TAPT1 [HSA:202018] [KO:K23404] | |
| H02281 |
正常汗腺を伴う単独無汗症 Dann-Epstein-Sohar 症候群 |
Anhidrosis is defined as the absence of perspiration in the presence of an appropriate stimulus such as heat, exercise, or pharmacological agonists. Isolated anhidrosis with normal sweat glands (ANHD) ... | 皮膚疾患 | ITPR2 [HSA:3709] [KO:K04959] | |
| H02282 | 痙性四肢麻痺、脳梁の菲薄化および進行性小頭症 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) is an autosomal recessive neurodevelopmental disorder of childhood. Mutations in SLC1A4, encoding the brain serine transporter ... | 先天奇形 | (SPATCCM) SLC1A4 [HSA:6509] [KO:K05615] | |
| H02283 | IVIC 症候群 | The IVIC syndrome is an autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. It is caused by mutations in the ... | 先天奇形 | SALL4 [HSA:57167] [KO:K19871] | |
| H02284 | ロイコトリエン C4 合成酵素欠損症 | Leukotriene C4 (LTC4) synthase deficiency is an inborn error of metabolism linked to a fatal developmental syndrome. It is characterised by severe muscular hypotonia, psychomotor retardation, failure to ... | 先天性代謝異常症 | LTC4S [HSA:4056] [KO:K00807] | |
| H02285 | メチルマロン酸セミアルデヒド脱水素酵素欠損症 | Methylmalonate semialdehyde dehydrogenase (MMSDH) deficiency is a rare autosomal recessive disorder with varied metabolite abnormalities, including accumulation of 3-hydroxyisobutyric, 3-hydroxypropionic ... | 先天性代謝異常症 | ALDH6A1 [HSA:4329] [KO:K00140] | |
| H02286 |
内耳形成不全、小耳症、および小歯症を伴う先天性難聴 LAMM を伴う難聴 |
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a new, rare, autosomal recessive deafness syndrome. This syndrome has been linked to mutations in the FGF3 gene. Fibroblast growth ... | 先天奇形 | FGF3 [HSA:2248] [KO:K04358] |