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 |
|---|---|---|---|---|---|
| H02347 | Thauvin-Robinet-Faivre 症候群 | Thauvin-Robinet-Faivre syndrome (TROFAS) is an autosomal recessive overgrowth syndrome associated with tall stature, intellectual disability and renal anomalies. TROFAS is caused by mutations in FIBP, ... | 先天奇形 | FIBP [HSA:9158] [KO:K26161] | |
| H02348 | 象牙質異形成症 | Dentin dysplasia (DD/DTDP) is a rare hereditary disturbance of dentin formation. Dentin dysplasia is divided into two main classes based on the clinical and radiographic appearance, type I (DD1/DTDP1) ... | 先天奇形 |
(DTDP1A) SMOC2 [HSA:64094] [KO:K24354] (DTDP1B) VPS4B [HSA:9525] [KO:K12196] (DTDP2) DSPP [HSA:1834] [KO:K23573] |
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| H02349 |
歯牙軟骨形成不全症 Goldblatt 症候群 |
Odontochondrodysplasia (ODCD), also known as Goldblatt syndrome, is a genetic disorder of skeletal and dental development. Clinical findings are short stature, narrow chest, mesomelic limb shortening, ... | 先天奇形 |
(ODCD1) TRIP11 [HSA:9321] [KO:K23368] (ODCD2) MIA3 [HSA:375056] [KO:K23704] |
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| H02350 | 遺伝性汎発性色素異常症 | Dyschromatosis universalis hereditaria (DUH) is a group of congenital pigmentary disorders characterized by asymptomatic hypo- and hyper-pigmented macules of irregular size and shape which appear early ... | 皮膚疾患 |
(DUH1) SASH1 [HSA:23328] [KO:K23705] (DUH3) ABCB6 [HSA:10058] [KO:K05661] |
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| H02351 | 牛痘 | Human cowpox is a rare zoonotic infectious disease caused by cowpox virus (CPXV), an orthopoxvirus in the Poxviridae family of dsDNA viruses. CPXV can infect a broad range of hosts. Natural reservoir hosts ... | ウイルス感染症 | ||
| H02352 | ワクシニアウイルス感染症 | Vaccinia is an infectious disease caused by vaccinia virus, an orthopoxvirus in the Poxviridae family of dsDNA viruses. Vaccinia virus has been used as a smallpox vaccine. Several serious complications ... | ウイルス感染症 | ||
| H02353 |
てんかんを伴う過剰驚愕症 早期乳児てんかん性脳症 8 型 |
Hyperekplexia and epilepsy is also known as early infantile epileptic encephalopathy 8 (EIEE8) [DS:H00606]. It is an X-linked mental retardation and sensory hyperarousal, caused by mutations in ARHGEF9 ... | 神経系疾患 | ARHGEF9 [HSA:23229] [KO:K20686] | |
| H02354 | 伝染性膿疱性皮膚炎 | Orf is a highly contagious zoonotic infectious disease caused by orf virus, a parapoxvirus in the Poxviridae family of dsDNA viruses. Orf virus is transmitted to humans by direct or indirect contact with ... | ウイルス感染症 | ||
| H02355 | 難聴および近視 | Deafness and myopia (DFNMYP) is severe congenital myopia and sensorineural hearing loss in the absence of other systemic, ocular, or connective tissue manifestations. DFNMYP is caused by mutations in SLITRK6 ... | 神経系疾患 | SLITRK6 [HSA:84189] [KO:K25837] | |
| H02356 |
PCWH 症候群 神経症状型ワールデンブルグ・シャー症候群 |
PCWH syndrome (Peripheral demyelinating neuropathy, Central dysmyelination, Waardenburg syndrome, and Hirschsprung disease) is a rare inherited disorder caused by SOX10 mutations. SOX10 regulates the development ... | 神経系疾患 | SOX10 [HSA:6663] [KO:K09270] | |
| H02357 | 先天性髄鞘形成不全性ニューロパチー | Congenital hypomyelinating neuropathy (CHN) is a rare congenital neuropathy, often accompanied by arthrogryposis, that is characterized by prenatal onset, areflexia, hypotonia, hypomyelination, and slowed ... | 神経系疾患 |
(CHN1) EGR2 [HSA:1959] [KO:K12496] (CHN2) MPZ [HSA:4359] [KO:K06770] (CHN3) CNTNAP1 [HSA:8506] [KO:K07379] |
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| H02358 | ミエリン欠損を伴う神経原性先天性多発性関節拘縮症 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect (AMCNMY) is caused by loss-of-function mutations in LGI4. LGI4 is a ligand secreted by Schwann cells that regulates peripheral nerve myelination ... | 神経系疾患 | LGI4 [HSA:163175] [KO:K25430] | |
| H02359 |
Dejerine-Sottas 病 シャルコー・マリー・トゥース病 3型 |
Dejerine-Sottas disease (DSD), also known as Charcot-Marie-Tooth disease type 3, is a severe, demyelinating neuropathy, presenting in infancy with delayed motor development, very slow nerve conduction ... | 神経系疾患 |
MPZ [HSA:4359] [KO:K06770] EGR2 [HSA:1959] [KO:K12496] PMP22 [HSA:5376] [KO:K19289] PRX [HSA:57716] [KO:K27395] |
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| H02360 | 小児発症てんかん性脳症 | Epileptic encephalopathy, childhood-onset (EEOC) is CHD2-related neurodevelopmental disorder, inherited in an autosomal dominant manner. It is characterized by refractory seizures and cognitive slowing ... | 神経系疾患 | CHD2 [HSA:1106] [KO:K20091] | |
| H02361 | ミオクローヌス-脱力発作てんかん | Myoclonic-atonic epilepsy (MAE) is an autosomal dominant disorder caused by mutations in SLC6A1. GAT-1, encoded by SLC6A1, is one of the major gamma-aminobutyric acid (GABA) transporters in the brain and ... | 神経系疾患 | SLC6A1 [HSA:6529] [KO:K05034] | |
| H02362 | 良性家族性乳児けいれん | Benign familial infantile seizure (BFIS) is an autosomal dominant disease characterized by focal seizures, occurring mostly in clusters, and usually first seen between 4 and 8 months of life. Psychomotor ... | 神経系疾患 |
(BFIS2) PRRT2 [HSA:112476] [KO:K23897] (BFIS3) SCN2A [HSA:6326] [KO:K04834] (BFIS5) SCN8A [HSA:6334] [KO:K04840] |
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| H02363 | Ververi-Brady 症候群 | Ververi-Brady syndrome (VERBRAS) is characterized by mild developmental delay, mildly impaired intellectual development and speech delay, and mild dysmorphic facial features. It has been suggested that ... | 先天奇形 |
(VERBRAS1) QRICH1 [HSA:54870] [KO:K24297] (VERBRAS2) SEPHS1 [HSA:22929] [KO:K01008] |
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| H02364 | 心臓および脳の奇形症候群 | Heart and brain malformation syndrome (HBMS) is a multiple congenital anomaly syndrome, characterized by craniofacial dysmorphism, congenital heart disease, and brain malformation. Mutations in SMG9, encoding ... | 先天奇形 | SMG9 [HSA:56006] [KO:K18735] | |
| H02365 |
Helsmoortel-van der Aa 症候群 常染色体優性遺伝性精神遅滞 28 |
Helsmoortel-van der Aa syndrome (HVDAS) is an autism spectrum disorder (ASD), accompanied with intellectual disability and facial dysmorphisms. It has been reported that HVDAS is caused by mutations in ... | 先天奇形 | ADNP [HSA:23394] [KO:K22591] | |
| H02366 | 神経障害および前庭神経失調症候群を伴う小脳性運動失調症 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an adult-onset, slowly progressive neurological disorder characterized by imbalance, sensory neuropathy, bilateral vestibulopathy ... | 神経系疾患 | RFC1 [HSA:5981] [KO:K10754] | |
| H02367 | 精神運動発達遅滞を伴う小児発症舞踏病 | Chorea, childhood-onset, with psychomotor retardation (COCPMR) is a familial developmental disorder characterized by chorea, marked speech delay, and learning difficulties. Mutations in GPR88 are associated ... | 神経系疾患 | GPR88 [HSA:54112] [KO:K08422] | |
| H02368 | 低身長・顔異形・薄毛を伴う成長遅滞 | Developmental delay with short stature, dysmorphic facial features, and sparse hair (DEDSSH) is an autosomal recessive intellectual disability with short stature, craniofacial and ectodermal anomalies ... | 先天奇形 |
(DEDSSH1) DPH1 [HSA:1801] [KO:K07561] (DEDSSH2) DPH2 [HSA:1802] [KO:K17866] |
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| H02369 | IMAGE-I 症候群 | IMAGE-I syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency. It ... | 先天奇形 | POLE [HSA:5426] [KO:K02324] | |
| H02370 | FILS 症候群 | FILS syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunodeficiency, livedo, and short stature. It has been reported that mutations in POLE cause FILS syndrome. POLE ... | 先天奇形 | POLE [HSA:5426] [KO:K02324] | |
| H02371 | 自閉症と言葉の遅れを伴う知的発達障害 | Intellectual developmental disorder with autism and speech delay is the autistic-spectrum-disorder. Some of them have complications in addition to autism and speech delay. Several underlying genetic causes ... | 精神及び行動の障害 |
(IDDAS) TBR1 [HSA:10716] [KO:K10174] (IDDALDS) TANC2 [HSA:26115] [KO:K26456] (IDDADF) PDZD8 [HSA:118987] [KO:K24060] (IDDLA) FOXP1 [HSA:27086] [KO:K23582] (WHSUS) POGZ [HSA:23126] [KO:K22594] |
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| H02372 | シストイソスポーラ症 | Cystoisosporiasis is a human enteritis caused by Cystoisospora belli. Cystoisospora belli is an obligate intracellular protozoa in phylum Apicomplexa. The transmission is through ingestion of sporulated ... | 寄生虫感染症 | ||
| H02373 |
サルコシスチス症 肉胞子虫症 |
Sarcocystosis is an infectious disease caused by species of Sarcocystis, an intracellular protozoan parasite. Sarcocystis was first reported in 1843. Humans can serve as definitive hosts, with intestinal ... | 寄生虫感染症 | ||
| H02374 | ブラストシスティス症 | Blastocystosis is an infectious disease caused by Blastocystis sp., an anaerobic intestinal parasite of humans and a wide range of animals. Blastocystis sp. is the only stramenopiles known to cause infection ... | 寄生虫感染症 | ||
| H02375 | 心臓弁形成異常 | Cardiac valvular dysplasia (CVDP) is non-syndromic severe congenital valve malformation. The identification of loss-of-function mutations in the PLD1 gene in two unrelated families with CVDP has been reported | 先天奇形 |
(CVDP1) PLD1 [HSA:5337] [KO:K01115] (CVDP2) ADAMTS19 [HSA:171019] [KO:K08633] |
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| H02376 | 全般的発達遅滞・脳梁形成不全および顔異形症 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (GDACCF) is a syndromic intellectual disability with corpus callosum anomalies and short stature as shared features ... | 先天奇形 | ZNF148 [HSA:7707] [KO:K24370] |