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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| H00633 | デュアン眼球後退症候群 | Duane retraction syndrome (DRS) is a congenital disorder of eye movement that occurs in approximately 1 in 50 patients with strabismus. This condition prevents horizontal eye movement, with absence of ... | 神経系疾患 |
(DURS2) CHN1 [HSA:1123] [KO:K20630] (DURS3) MAFB [HSA:9935] [KO:K09036] |
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| H00634 |
オキヒロ症候群 Duane-radial ray 症候群 |
Duane-radial ray syndrome alias Okihiro syndrome is an autosomal dominant condition characterized by an association of Duane retraction syndrome (eye retraction) with radial malformations of the upper ... | 先天奇形 | SALL4 [HSA:57167] [KO:K19871] | |
| H00635 | 無虹彩症 | Aniridia is a congenital, bilateral ocular malformation defined as iris aplasia or hypoplasia. It can be either isolated or accompanied by other ocular defects. Aniridia is caused by decreased dosage of ... | 先天奇形 |
(AN1) PAX6 [HSA:5080] [KO:K08031] (AN2) ELP4 [HSA:26610] [KO:K11375] (AN3) TRIM44 [HSA:54765] [KO:K12020] |
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| H00636 | 無四肢症候群 | Tetra-amelia syndrome (TETAMS) is an extremely rare condition characterized by the complete absence of all four limbs. Patients commonly have other anomalies involving the face, eyes, heart, nervous system ... | 先天奇形 |
(TETAMS1) WNT3 [HSA:7473] [KO:K00312] (TETAMS2) RSPO2 [HSA:340419] [KO:K23097] |
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| H00637 | Schinzel 症候群 | Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder caused by haploinsufficiency of the TBX3 gene. It is characterized by bilateral hypoplasia or aplasia of upper limbs on the ulnar side, mammary ... | 先天奇形 | TBX3 [HSA:6926] [KO:K10177] | |
| H00638 | EEC 症候群 | Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is a rare autosomal dominant genetic disorder. This condition is a combination of ectrodactyly, the lobster claw-like deformities of the ... | 先天奇形 | TP63 [HSA:8626] [KO:K10149] | |
| H00639 | EEM 症候群 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) is the rare association of several clinical features caused by defects in CDH3. The ectodermal defect is characterized by hypotrichosis ... | 先天奇形 | CDH3 [HSA:1001] [KO:K06796] | |
| H00640 | Limb-mammary 症候群 | Limb-mammary syndrome (LMS) is a condition characterized by ectrodactyly, cleft palate, and aplasia or hypoplasia of the mammary gland and nipple. Unlike its allelic disorder EEC syndrome, LMS patients ... | 先天奇形 | TP63 [HSA:8626] [KO:K10149] | |
| H00641 | ADULT 症候群 | ADULT syndrome is an acronym for acro-dermato-ungual-lacrimal-tooth syndrome. It is a rare autosomal dominant disorder characterized by ectrodactyly, excessive freckling, nail dysplasia, obstruction of ... | 先天奇形 | TP63 (gain of function) [HSA:8626] [KO:K10149] | |
| H00642 |
LADD 症候群 レビーホリスター症候群 |
Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder characterized by hypoplasia or aplasia of the lacrimal and salivary glands, cup shaped pinnae with sensorineural deafness ... | 先天奇形 |
(LADD1) FGFR2 [HSA:2263] [KO:K05093] (LADD2) FGFR3 [HSA:2261] [KO:K05094] (LADD3) FGF10 [HSA:2255] [KO:K04358] |
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| H00643 | 歯爪症候群 | Witkop syndrome, also known as tooth and nail syndrome, is a form of ectodermal dysplasia manifested by hypodontia and nail dysplasia. Several teeth are congenitally missing and nails are spoon-shaped ... | 先天奇形 | MSX1 [HSA:4487] [KO:K09341] | |
| H00644 | 外胚葉異形成・皮膚脆弱症候群 | Ectodermal dysplasia/skin fragility syndrome is a very rare genodermatosis that develops skin fragility with tearing and blisters and congenital ectodermal dysplasia. Progressive keratosis of the palms ... | 先天奇形 | PKP1 [HSA:5317] [KO:K10387] | |
| H00645 | 色素失調症 | Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis mostly affecting females. Cutaneous manifestations are present along the lines of Blaschko and are subdivided into four stages: vesicular ... | 先天奇形 | IKBKG [HSA:8517] [KO:K07210] | |
| H00646 | 歯・爪・皮膚形成異常 | Odontoonychodermal dysplasia (OODD) is a rare autosomal recessive ectodermal dysplasia that presents dry hair, severe hypodontia, smooth tongue, onychodysplasia, and keratoderma of palms and soles. | 先天奇形 | WNT10A [HSA:80326] [KO:K01357] | |
| H00647 | 外胚葉異形成‐合指症症候群 | Ectodermal dysplasia-syndactyly syndrome (EDSS) is a rare form of ectodermal dysplasia characterized by co-existence of abnormalities in skin/skin-derived structures and bilateral partial cutaneous syndactyly ... | 先天奇形 | NECTIN4 [HSA:81607] [KO:K06593] | |
| H00648 |
外胚葉形成異常 Clouston 型 Clouston 症候群 |
Ectodermal dysplasia, Clouston type, also known as Clouston syndrome, is an autosomal dominant disorder characterized by partial or total alopecia, nail dystrophy, hyperkeratosis of the palms and soles ... | 先天奇形 | GJB6 [HSA:10804] [KO:K07625] | |
| H00649 | 外胚葉性形成異常 毛髪・爪型 | Ectodermal dysplasia (ECTD), hair-nail type is a rare condition involving only tissues of ectodermal origin. Patients show complete alopecia and primitive nails. Autosomal recessive type has previously ... | 先天奇形 |
(ECTD4) KRT85 [HSA:3891] [KO:K07605] (ECTD7) KRT74 [HSA:121391] [KO:K07605] (ECTD9) HOXC13 [HSA:3229] [KO:K09298] (ECTD10A/10B) EDAR [HSA:10913] [KO:K05162] (ECTD13) KREMEN1 [HSA:83999] [KO:K23091] |
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| H00650 | Allan-Herndon-Dudley 症候群 | Allan-Herndon-Dudley syndrome (AHDS) is an X-linked mental retardation syndrome with neuromuscular involvement characterized by hypotonia, muscular hypoplasia and intellectual deficit. AHDS is caused by ... | 内分泌代謝疾患 | SLC16A2 [HSA:6567] [KO:K08231] | |
| H00651 | 発汗低下を伴う先天性外胚葉形成異常症 | Hypohidrotic ectodermal dysplasia (HED) is a condition characterized by major involvement of ectodermal structures with perturbed formation and maturation of teeth, hair, and sweat glands. HED is caused ... | 先天奇形 |
(ECTD1) EDA [HSA:1896] [KO:K05480] (ECTD10A/10B) EDAR [HSA:10913] [KO:K05162] (ECTD11A/11B) EDARADD [HSA:128178] [KO:K23324] (ECTD12) KDF1 [HSA:126695] [KO:K23346] (ECTD15) CST6 [HSA:1474] [KO:K13902] (ECTD17) LEF1 [HSA:51176] [KO:K04492] |
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| H00652 | SMMCI 症候群 | Solitary median maxillary central incisor (SMMCI) syndrome is a rare dental anomaly characterized by the presence of a central incisor with symmetric crown form positioned at the maxillary mid-axis. Missense ... | 先天奇形 | SHH [HSA:6469] [KO:K11988] | |
| H00653 | マルファン症候群 | Marfan syndrome (MFS) is a relatively common autosomal dominant disorder of connective tissue. It affects many parts of the body involving the skeletal, ocular, and cardiovascular systems. Cardiac manifestations ... | 先天奇形 | FBN1 [HSA:2200] [KO:K06825] | |
| H00654 | バース症候群 | Barth syndrome is a rare X-linked recessive disorder of infancy characterized by myopathy, cardiomyopathy [DS:H00294], cyclic neutropenia, short stature, low cholesterol, and mitochondrial abnormalities ... | 先天性代謝異常症 | TAFAZZIN [HSA:6901] [KO:K13511] | |
| H00655 | McLeod 症候群 | McLeod syndrome is an X-linked multisystem disorder including the CNS (chorea, epilepsy), the PNS (axonal polyneuropathy), and the blood cells (acanthocytosis of the erythrocytes) characterized by late ... | 神経系疾患 | (MCLDS) XK [HSA:7504] [KO:K19522] | |
| H00656 | 肩甲腓骨型筋ジストロフィー | Scapuloperoneal syndrome encompasses a heterogeneous group of neuromuscular disorders all characterized by slowly progressive weakness in the shoulder-girdle and peroneal muscles. Both neurogenic and myopathic ... | 神経系疾患; 筋骨格疾患 |
(SPMM) MYH7 [HSA:4625] [KO:K17751] (SCPNK) DES [HSA:1674] [KO:K07610] (SPM) FHL1 [HSA:2273] [KO:K14365] |
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| H00657 | 還元体筋障害 | Reducing body myopathy (RBM) is a rare, sometimes fatal, X-linked disorder characterized by progressive muscle weakness and the presence of intracytoplasmic aggregates in histological muscle sections which ... | 神経系疾患; 筋骨格疾患 | FHL1 [HSA:2273] [KO:K14365] | |
| H00658 |
X連鎖知的発達障害症候群 X連鎖精神遅滞症候群 |
X-linked intellectual developmental disorder (XLID), formerly known as X-linked mental retardation, is an inherited condition that causes failure to develop cognitive abilities because of mutations in ... | 精神及び行動の障害 |
(MRXST) HUWE1 [HSA:10075] [KO:K10592] (MRXSSD) PHF8 [HSA:23133] [KO:K19415] (MRXSC) CUL4B [HSA:8450] [KO:K10609] (MRXSR) ZDHHC9 [HSA:51114] [KO:K25778] (MRXSH) ATP6AP2 [HSA:10159] [KO:K19514] (MRXSCJ) KDM5C [HSA:8242] [KO:K11446] (MRXSW) GRIA3 [HSA:2892] [KO:K05199] (MRXSB) HNRNPH2 [HSA:3188] [KO:K12898] (MRXSHG) CNKSR2 [HSA:22866] [KO:K17536] (MRXSN) UBE2A [HSA:7319] [KO:K10573] (MRXSBA) MSL3 [HSA:10943] [KO:K18403] (MRXSA) FAM50A [HSA:9130] [KO:K13119] (MRXSHD) NKAP [HSA:79576] [KO:K25931] (MRXSPM) HS6ST2 [HSA:90161] [KO:K08102] (VEODS) POLA1 [HSA:5422] [KO:K02320] (MRGH) SOX3 [HSA:6658] [KO:K09267] (MRX60) OPHN1 [HSA:4983] [KO:K20650] (MRXSRC) CLCN4 [HSA:1183] [KO:K05012] (MRXSSB) DDX3X [HSA:1654] [KO:K11594] (MRXSP) GLRA2 [HSA:2742] [KO:K05194] (TOKAS) RLIM [HSA:51132] [KO:K16271] (PGS) AP1S2 [HSA:8905] [KO:K12394] (MRXSPF) TFE3 [HSA:7030] [KO:K09105] (MRXSSH/MRXSG) RBMX [HSA:27316] [KO:K12885] (MRXS13) MECP2 [HSA:4204] [KO:K11588] (MRXS14) UPF3B [HSA:65109] [KO:K14328] (MRXS32) CLIC2 [HSA:1193] [KO:K05022] (MRXS33) TAF1 [HSA:6872] [KO:K03125] (MRXS34) NONO [HSA:4841] [KO:K13214] (MRXS35) RPL10 [HSA:6134] [KO:K02866] (MRXS37) ZFX [HSA:7543] [KO:K27541] (MRXS99F) USP9X [HSA:8239] [KO:K11840] |
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| H00659 | Shprintzen-Goldberg 症候群 | Shprintzen-Goldberg syndrome (SGS) is a group of disorders characterized by craniosynostosis, neurologic abnormalities, and Marfanoid findings. It is a condition that involves skeletal changes and cardiovascular ... | 先天奇形 | SKI [HSA:6497] [KO:K26503] | |
| H00660 |
先天性拘縮性クモ指症 Beals 症候群 |
Congenital contractural arachnodactyly (CCA) or Beals syndrome is an autosomal dominant disorder characterized by a Marfan-like appearance and arachnodactyly. Most affected individuals have 'crumpled' ... | 先天奇形 | FBN2 [HSA:2201] [KO:K23342] | |
| H00661 | MASS 症候群 | MASS Phenotype (Mitral valve prolapse, Aortic dilatation without dissection, Skeletal and Skin abnormalities) is one of the FBN1-related disorders similar to Marfan syndrome. Reduced expression of FBN1 ... | 先天奇形 | FBN1 [HSA:2200] [KO:K06825] | |
| H00662 | 水晶体転位 | Ectopia lentis (EL) is defined as displacement or malposition of the crystalline lens of the eye and is inherited in either autosomal recessive or autosomal dominant manner. Subluxation of the lens is ... | 先天奇形 |
(ECTOL1) FBN1 [HSA:2200] [KO:K06825] (ECTOL2) ADAMTSL4 [HSA:54507] [KO:K23369] |