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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| H02618 | 様々な知的障害と顔異形を伴う発達遅滞 | Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF) is a neurodevelopmental syndrome caused by mutations in JARID2. JARID2, which is expressed in human neurons, is a ... | 先天奇形 | JARID2 [HSA:3720] [KO:K11478] | |
| H02619 | 筋緊張低下・運動失調・発達遅滞および歯のエナメル質形成不全症候群 | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS) is caused by a pathogenic CTBP1 missense mutation. CTBP1 is the transcriptional corepressor. The enzymatic constituents ... | 先天奇形 | CTBP1 [HSA:1487] [KO:K04496] | |
| H02620 |
自己炎症-エピソード性発熱-リンパ節腫大 分割抵抗性 RIPK1 誘発性自己炎症症候群 |
Autoinflammation with episodic fever and lymphadenopathy (AIEFL) is an autoinflammatory disease caused by non-cleavable RIPK1 variants. Heterozygous mutations of the RIPK1 caspase-8 cleavage site have ... | 免疫系疾患 | RIPK1 [HSA:8737] [KO:K02861] | |
| H02621 | X 連鎖性全身性自己炎症性疾患 | X-linked systemic autoinflammatory disease (SAIDX), also called NEMO deleted exon 5 autoinflammatory syndrome (NDAS), is a pediatric autoinflammatory syndrome caused by X-linked IKBKG germline mutations ... | 免疫系疾患 | IKBKG [HSA:8517] [KO:K07210] | |
| H02622 | Shukla-Vernon 症候群 | Shukla-Vernon syndrome (SHUVER) is a new X-linked syndrome characterized by variable degrees of intellectual disability, seizures, behavioral abnormalities, and dysmorphisms. It has been reported that ... | 先天奇形 | BCORL1 [HSA:63035] [KO:K26199] | |
| H02623 | Kury-Isidor 症候群 | Kury-Isidor syndrome (KURIS) is a syndromic neurodevelopmental disorder caused by rare germline missense BAP1 variants. Nuclear deubiquitinase BAP1 is a core component of multiprotein complexes that promote ... | 先天奇形 | BAP1 [HSA:8314] [KO:K08588] | |
| H02624 | 腫瘍感受性症候群 | Tumor predisposition syndrome (TPDS) is conferring an increased risk of hereditary, early-onset cancers; predominantly uveal melanoma, malignant mesothelioma, renal cell carcinoma, and BAP1-inactivated ... | がん |
(TPDS1) BAP1 [HSA:8314] [KO:K08588] (TPDS2) MBD4 [HSA:8930] [KO:K10801] (TPDS3) POT1 [HSA:25913] [KO:K11109] (TPDS4) CHEK2 [HSA:11200] [KO:K06641] |
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| H02625 | 原発性低身長・免疫不全・リポジストロフィー症候群 | Primordial dwarfism-immunodeficiency-lipodystrophy syndrome (PDIL) is a novel microcephalic primordial dwarfism disorder caused by mutations in PRIM1 encoding the catalytic subunit of DNA primase. PRIM1 ... | 先天奇形 | PRIM1 [HSA:5557] [KO:K02684] | |
| H02626 | Kalamiella piersonii 感染 | Kalamiella piersonii is a urease-negative gram-negative bacterium belonging to the Erwiniaceae family. K. piersonii has been isolated from the urine of a struvite stone patient, which suggests that the ... | 細菌感染症 | ||
| H02627 | 表皮母斑 | Epidermal nevus is hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin. It is often present at birth or within the first few years of life. | 先天奇形 |
NRAS [HSA:4893] [KO:K07828] PIK3CA [HSA:5290] [KO:K00922] FGFR3 [HSA:2261] [KO:K05094] HRAS [HSA:3265] [KO:K02833] |
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| H02628 | Schimmerlpenning-Feuerstein-Mims 症候群 | Schimmelpenning-Feuerstein-Mims syndrome is a rare multisystem disorder characterized by sebaceous nevus associated with extracutaneous abnormalities affecting the brain, eyes, and bones. | 先天奇形 |
KRAS [HSA:3845] [KO:K07827] NRAS [HSA:4893] [KO:K07828] HRAS [HSA:3265] [KO:K02833] |
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| H02629 | 湾曲骨異形成症候群 | Bent bone dysplasia syndrome (BBDS) is a congenital skeletal disorder characterized by bowed long bones within the limbs. It is usually lethal perinatally. | 先天奇形 |
(BBDS1) FGFR2 [HSA:2263] [KO:K05093] (BBDS2) LAMA5 [HSA:3911] [KO:K06240] |
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| H02630 | Chitayat 症候群 | Chitayat syndrome is a rare condition characterized by bilateral hand hyperphalangism resulting in shortening and ulnar deviation of the index and sometimes third fingers, hallux valgus, mild facial dysmorphism ... | 先天奇形 | (CHYTS) ERF [HSA:2077] [KO:K09434] | |
| H02631 |
流蝋骨症 メロレオストーシス |
Melorheostosis (MEL) is a rare sclerosing hyperostosis characterized by asymmetric bone overgrowth and functional impairment. Recent studies indicate that most cases arise from somatic MAP2K1 mutations ... | 筋骨格疾患 | MAP2K1 [HSA:5604] [KO:K04368] | |
| H02632 | Houge-Janssens 症候群 | Houge-Janssens syndrome (HJS) is PP2A-related neurodevelopmental disorder. PP2A enzymes play essential regulatory roles in cellular signalling and physiology, including in brain function and development ... | 先天奇形 |
(HJS1/MRD35) PPP2R5D [HSA:5528] [KO:K11584] (HJS2/MRD36) PPP2R1A [HSA:5518] [KO:K03456] (HJS3/NEDLBA) PPP2CA [HSA:5515] [KO:K04382] (HJS4) PPP2R5C [HSA:5527] [KO:K11584] |
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| H02633 | Beck-Fahrner 症候群 | Beck-Fahrner syndrome (BEFAHRS) is a neurodevelopmental syndrome that shows global developmental delay and/or intellectual disability and other neurological manifestations, growth abnormalities, and characteristic ... | 先天奇形 | TET3 [HSA:200424] [KO:K24309] | |
| H02634 | 難聴、白内障、知的発達障害および多発ニューロパチー | Deafness, cataract, impaired intellectual development, and polyneuropathy (DCIDP) is a novel autosomal recessive syndrome with varying degrees of neurosensorial dysfunctions. DCIDP is caused by mutations ... | 神経系疾患 | PSMC3 [HSA:5702] [KO:K03065] | |
| H02635 | Poirier-Bienvenu 神経発達症候群 | Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is associated with epilepsy, intellectual disability, and developmental delay. It has been reported that mutations in CSNK2B cause this syndrome. ... | 先天奇形 | CSNK2B [HSA:1460] [KO:K03115] | |
| H02636 | 洞房結節機能障害-難聴 | Sinoatrial node dysfunction and deafness (SANDD) is a genetic disease characterized by a low heart beat and severe-to-profound deafness. A mutation of CACNA1D, encoding the Cav1.3 protein, has been identified ... | 循環器系疾患; 神経系疾患 | CACNA1D [HSA:776] [KO:K04851] | |
| H02637 | 短頭症・ 長睫毛症および発達遅滞 | Brachycephaly, trichomegaly, and developmental delay (BTDD), also known as MacInnes syndrome, is a novel ribosomopathy. Mutations in RPS23 gene, which encodes a small ribosomal subunit, have been reported ... | リボソーム病 | RPS23 [HSA:6228] [KO:K02973] | |
| H02638 | Zaki 症候群 | Zaki syndrome is a novel structural syndrome characterized by multiorgan defects, including microcephaly, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects ... | 先天奇形 | WLS [HSA:79971] [KO:K27258] | |
| H02639 | Atelis 症候群 | Atelis syndrome (ATELS) is a neurodevelopmental disease characterized by microcephaly, short stature, cardiac abnormalities and anemia. Patient-derived cells exhibit a unique chromosomal instability phenotype ... | 先天奇形 |
(ATELS1) SLF2 [HSA:55719] [KO:K26127] (ATELS2) SMC5 [HSA:23137] [KO:K22803] |
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| H02640 | 脊椎過剰分節および口腔顔面奇形 | Vertebral hypersegmentation and orofacial anomalies (VHO) is a new orofacial clefting syndrome characterized by vertebral and rib hypersegmentation. It has been reported that mutations in GDF11 cause this ... | 先天奇形 | GDF11 [HSA:10220] [KO:K22679] | |
| H02641 | 関節拘縮-口蓋裂-頭蓋骨縫合早期癒合-知的発達障害 | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development (ACCIID) is a condition characterized by multiple congenital abnormalities, which have been associated with mutations ... | 先天奇形 | PPP3CA [HSA:5530] [KO:K04348] | |
| H02642 | 肺動脈弁上狭窄を伴う網膜動脈瘤 | Retinal arterial macroaneurysm associated with supravalvular pulmonic stenosis (RAMSVPS) is a rare autosomal recessive condition caused by a splicing mutation in IGFBP7. Recently, two major biological ... | 神経系疾患 | IGFBP7 [HSA:3490] [KO:K23580] | |
| H02643 | リポイルトランスフェラーゼ 1 欠損症 | Lipoyltransferase 1 deficiency (LIPT1D) is a fatal disease associated with encephalopathy and pulmonary hypertension. Mutations in LIPT1 gene cause this disease. LIPT1 encodes a mitochondrial lipoyltransferase ... | 先天性代謝異常症 | LIPT1 [HSA:51601] [KO:K10105] | |
| H02644 | アルファアミノアジピン酸およびアルファケトアジピン酸尿症 | Alpha-aminoadipic and alpha-ketoadipic aciduria (AAKAD) is an autosomal recessive inborn error of lysine, hydroxylysine, and tryptophan degradation. This disease is associated with varying neurological ... | 先天性代謝異常症 | DHTKD1 [HSA:55526] [KO:K15791] | |
| H02645 | てんかんおよび様々な成長遅滞を伴う小脳萎縮 | Cerebellar atrophy with seizures and variable developmental delay (CASVDD) is an early-onset epileptic encephalopathy. This disease is caused by mutations in CACNA2D2 that encodes an auxiliary subunit ... | 先天奇形 | CACNA2D2 [HSA:9254] [KO:K04859] | |
| H02646 | 悪性高熱症 | Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle most often associated with the administration of volatile general anesthetic agents and/or the muscle relaxant succinylcholine ... | 筋骨格疾患 |
(MHS1) RYR1 [HSA:6261] [KO:K04961] (MHS5) CACNA1S [HSA:779] [KO:K04857] |
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| H02647 | 巨指症 | Macrodactyly is a discrete congenital anomaly consisting of enlargement of all tissues localized to the terminal portions of a limb. Macrodactyly is attributed to a somatic mutation in PIK3CA, a component ... | 先天奇形 | PIK3CA [HSA:5290] [KO:K00922] |