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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| H02468 | 幼児期発症進行性白質ジストロフィー | Early childhood-onset progressive leukodystrophy (PLDECO) is a rare autosomal recessive disorder caused by deficiency of the alkaline ceramidase. Mutations in the ACER3 gene result in inactivation of ACER3 ... | 先天性代謝異常症 | ACER3 [HSA:55331] [KO:K04711] | |
| H02469 | 錐体杆体シナプス異常 | Cone-rod synaptic disorder (CRSD) is an autosomal recessive disorder caused by mutations in CABP4. CRSD is characterized by congenital nystagmus, stable low vision, photophobia, and a normal fundus appearance ... | 神経系疾患 |
(CRSD) CABP4 [HSA:57010] [KO:K23531] (CRSDS) RIMS2 [HSA:9699] [KO:K15297] |
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| H02470 | 脳の構造異常を伴う神経発達障害 | Neurodevelopmental disorder (NED) with structural brain abnormalities is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying ... | 先天奇形 |
(NEDBAVC) DHX37 [HSA:57647] [KO:K14780] (NEDCHS) INTS8 [HSA:55656] [KO:K13145] (NEDCAS) BRAT1 [HSA:221927] [KO:K23112] (NEDEHCC) LNPK [HSA:80856] [KO:K23292] (NEDBAS) DLL1 [HSA:28514] [KO:K06051] (NEDSWMA) HPDL [HSA:84842] [KO:K24788] (NEDVIBA) HK1 [HSA:3098] [KO:K00844] (NECFM) NACC1 [HSA:112939] [KO:K10486] (NEDMHM) ARHGEF2 [HSA:9181] [KO:K12791] (NEDBASS) PTPN23 [HSA:25930] [KO:K18040] (NEDESBA) TRAPPC4 [HSA:51399] [KO:K20303] (NEDASB) NOVA2 [HSA:4858] [KO:K14944] (NEDSCAC) MED27 [HSA:9442] [KO:K15170] (NEDHSB) AFG2A [HSA:166378] [KO:K14575] (NEDMLHB) TAF8 [HSA:129685] [KO:K14649] (NEDSSBA) NSRP1 [HSA:84081] [KO:K13206] (NEDMLOB) INTS11 [HSA:54973] [KO:K13148] (NEDMSB) PI4K2A [HSA:55361] [KO:K13711] (NEDPSB) EEFSEC [HSA:60678] [KO:K03833] (NEDGSB) SPOUT1 [HSA:51490] [KO:K09142] (NEDWMG) FAM177A1 [HSA:283635] [KO:K28326] (NEDAXBA) PTPMT1 [HSA:114971] [KO:K14165] (NEDEBA) ATP6V0A1 [HSA:535] [KO:K02154] (NEDBAC) SNAPIN [HSA:23557] [KO:K20002] |
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| H02471 | 尿路異常を伴う脳奇形 | Brain malformations with urinary tract defects (BRMUTD) is a novel human syndrome associated with 1p32-p31 deletion involving the NFIA gene. NFIA encodes a member of the NFI family of transcription factors | 先天奇形 | NFIA [HSA:4774] [KO:K09168] | |
| H02472 | 早期発症進行性脳症 | Early-onset progressive encephalopathy with brain atrophy and spasticity (PEBAS) is caused by mutations in TRAPPC12. Changes in Golgi morphology, membrane trafficking dysfunction, and mitotic delay were ... | 神経系疾患 |
(PEBAS) TRAPPC12 [HSA:51112] [KO:K20309] (PEERB) TRAPPC2L [HSA:51693] [KO:K20301] |
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| H02473 |
白質脳症、脳石灰化および嚢腫 Labrune 症候群 |
Leukoencephalopathy, brain calcifications, and cysts (LCC) is a rare disorder that is radiologically characterized by edematous leukoencephalopathy, cerebral calcifications, and formation of parenchymal ... | 神経系疾患 | SNORD118 [HSA:727676] [KO:K27110] | |
| H02474 | Blepharocheilodontic 症候群 | Blepharocheilodontic syndrome (BCDS) is a rare autosomal dominant disorder characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. It has been reported that BCDS is caused by ... | 先天奇形 |
(BCDS1) CDH1 [HSA:999] [KO:K05689] (BCDS2) CTNND1 [HSA:1500] [KO:K05690] |
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| H02475 | 網膜分離症 | Retinoschisis (RS) is a retinal disorder with macular degeneration. In most cases, juvenile retinoschisis is transmitted as an X-linked recessive trait. The RS1 gene responsible for X-linked juvenile retinoschisis ... | 先天奇形 | RS1 [HSA:6247] [KO:K25729] | |
| H02476 | 脳萎縮を伴う小児発症神経変性疾患 | Childhood-onset neurodegeneration with brain atrophy (CONDBA) is an autosomal dominant disorder characterized by developmental regression and neurodegeneration in childhood. It has been reported that mutations ... | 神経系疾患 | UBTF [HSA:7343] [KO:K09273] | |
| H02477 | Cohen-Gibson 症候群 | Cohen-Gibson syndrome (COGIS) is an overgrowth syndrome caused by mutations in EED. Patients are with overgrowth, facial dysmorphism and intellectual disability. EED is a member of the polycomb repressive ... | 先天奇形 | EED [HSA:8726] [KO:K11462] | |
| H02478 | CATIFA 症候群 | CATIFA syndrome is a novel autosomal recessive syndrome characterized by cleft lip, cataract, tooth abnormality, intellectual disability, facial dysmorphism, and ADHD. It has been reported that mutations ... | 先天奇形 | RIC1 [HSA:57589] [KO:K20476] | |
| H02479 | Nivelon-Nivelon-Mabille 症候群 | Nivelon-Nivelon-Mabille syndrome (NNMS), previously known as chondrodysplasia-pseudohermaphrodism syndrome, is a rare autosomal recessive syndrome characterized by microcephaly, early infantile onset seizures ... | 先天奇形 | HHAT [HSA:55733] [KO:K24678] | |
| H02480 | Fontaine 早老症候群 | Fontaine progeroid syndrome (FPS) is a rare genetic disorder characterized by early aging, bone dysplasia, characteristic face, and early demise. Mutations in SLC25A24, that encodes for calcium-binding ... | 先天奇形 | SLC25A24 [HSA:29957] [KO:K14684] | |
| H02481 | 低身長を伴う症候群 | Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH) or to underlying unknown ... | 先天奇形 |
(SAMS) GSC [HSA:145258] [KO:K09324] (SBIDDS) PRMT7 [HSA:54496] [KO:K11438] (SIMHA) ZNF407 [HSA:55628] [KO:K26729] (SOFT) POC1A [HSA:25886] [KO:K16482] (SOFM) POLR3GL [HSA:84265] [KO:K03024] (SOPH) NBAS [HSA:51594] [KO:K20473] (SRMMD) ARCN1 [HSA:372] [KO:K20471] (SSASKS) SLC10A7 [HSA:84068] [KO:K14347] (SSFSC1) BMP2 [HSA:650] [KO:K21283] (SSFSC2) SCUBE3 [HSA:222663] [KO:K24468] |
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| H02482 | ROSAH 症候群 | ROSAH syndrome is an autosomal dominant systemic disorder characterized by retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache. It has been reported that mutations in ... | 先天奇形 | ALPK1 [HSA:80216] [KO:K08868] | |
| H02483 | Basel-Vanagaite-Smirin-Yosef 症候群 | Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) is a syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability ... | 先天奇形 | MED25 [HSA:81857] [KO:K15168] | |
| H02484 | 全身症状を伴うX連鎖色素性網状疾患 | X-linked reticulate pigmentary disorder with systemic manifestations (XLPDR), previously known as X-linked cutaneous amyloidosis, is a rare syndrome characterized by recurrent infections and sterile multiorgan ... | 免疫系疾患 | POLA1 [HSA:5422] [KO:K02320] | |
| H02485 | MTO 欠損による口腔外由来口臭 | Extraoral halitosis due to MTO deficiency (EHMTO) is a novel inborn error of metabolism. Mutations in SELENBP1 in patients with cabbage-like breath odor have been identified. The malodor was attributable ... | 先天性代謝異常症 | SELENBP1 [HSA:8991] [KO:K17285] | |
| H02486 | HELIX 症候群 | HELIX syndrome is characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. It has been reported that mutations in CLDN10 cause HELIX syndrome. | 皮膚疾患 | CLDN10 [HSA:9071] [KO:K06087] | |
| H02487 | 間脳・中脳接合部異形成症候群 | Diencephalic-mesencephalic junction dysplasia syndrome (DMJDS) is a novel autosomal recessive brain malformation. DMJDS is associated with a characteristic butterfly-shaped contour of the midbrain on axial ... | 先天奇形 |
(DMJDS1) PCDH12 [HSA:51294] [KO:K16499] (DMJDS2) GSX2 [HSA:170825] [KO:K09310] |
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| H02488 | 心臓・泌尿生殖器症候群 | Cardiac-urogenital syndrome (CUGS) is characterized by congenital diaphragmatic hernia, congenital heart disease and genitourinary abnormalities. Mutations in MYRF have been identified in patients. MYRF ... | 先天奇形 | MYRF [HSA:745] [KO:K24768] | |
| H02489 | 可逆的ミエリン空胞化を伴う軽症脳症 | Mild encephalopathy with reversible myelin vacuolization (MMERV) is a familial disorder with clinical finding of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS). Mutations in ... | 神経系疾患 | MYRF [HSA:745] [KO:K24768] | |
| H02490 | Gabriele-de Vries 症候群 | Gabriele-de Vries syndrome (GADEVS) is an intellectual disability syndrome caused by mutations in YY1. YY1 encodes a multi-functional transcription factor involved in many regulatory processes. | 精神及び行動の障害 | YY1 [HSA:7528] [KO:K09201] | |
| H02491 | 神経発達異常を伴う免疫性骨形成不全 | Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) is an autosomal recessive syndrome caused by mutations in EXTL3. ISDNA is characterized by severe skeletal dysplasia, T cell immunodeficiency ... | 先天奇形 | EXTL3 [HSA:2137] [KO:K02370] | |
| H02492 | 小頭症・発育不全および姉妹染色分体交換の増加 | Microcephaly, growth restriction, and increased sister chromatid exchange (MGRISCE) is characterized by prenatal onset growth restriction and microcephaly. Diagnostically, a hallmark feature is the presence ... | 先天奇形 |
(MGRISCE1) BLM [HSA:641] [KO:K10901] (MGRISCE2) TOP3A [HSA:7156] [KO:K03165] |
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| H02493 | Al Kaissi 症候群 | Al Kaissi syndrome (ALKAS) is an autosomal recessive syndrome characterized by growth retardation, spine malformation, facial dysmorphism, and developmental delay. It has been reported that affected individuals ... | 先天奇形 | CDK10 [HSA:8558] [KO:K02449] | |
| H02494 | Alkuraya-Kucinskas 症候群 | Alkuraya-Kucinskas syndrome is an autosomal recessive syndrome characterized by brain atrophy with clubfoot and arthrogryposis. It has been reported that mutations in ALKKUCS are associated with this syndrome ... | 先天奇形 | ALKKUCS [HSA:84162] [KO:K24964] | |
| H02495 | 先天性巨大膀胱 | Congenital megabladder (MGBL) is characterized by a massively dilated urinary bladder with disrupted smooth muscle in its wall. It has been reported that loss of function mutations in myocardin cause this ... | 先天奇形 | MYOCD [HSA:93649] [KO:K22526] | |
| H02496 | 小脳、眼、頭蓋顔面および生殖器症候群 | Cerebellar, ocular, craniofacial, and genital syndrome (COFG) is an autosomal recessive syndrome caused by loss of function mutations in MAB21L1. COFG is characterized by intellectual disability, scrotal ... | 先天奇形 | MAB21L1 [HSA:4081] [KO:K23092] | |
| H02497 | Smith-McCort 異形成症 | Smith-McCort dysplasia (SMC) is a rare autosomal recessive spondylo-epimetaphyseal dysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen disease [DS:H00757] but with normal intelligence ... | 先天奇形 |
(SMC1) DYM [HSA:54808] [KO:K23951] (SMC2) RAB33B [HSA:83452] [KO:K07920] |