| H00986 | |
| H番号 | H00986 |
| 名称 | 多発性翼状片症候群 |
| 概要 | The multiple pterygium syndromes (MPS) are a spectrum of phenotypically heterogenous disorders that can be divided into prenatally lethal (LMPS) and nonlethal Escobar (EVMPS) types. The clinical features of MPS are congenital joint contractures (arthrogryposis) and multiple skin webbing (pterygia). Patients may have other developmental defects such as micrognathia, ptosis, and cleft palate. The genes that encode subunits of the embryonal acetylcholine receptor are linked to this disease. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (LMPS, EVMPS) CHRNG [HSA:1146] [KO:K04818] (LMPS) CHRNA1 [HSA:1134] [KO:K04803] (LMPS) CHRND [HSA:1144] [KO:K04816] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD26.40 ICD-10: Q87.0 MeSH: C537377 OMIM: 265000 253290 |
| 文献 | PMID:3289375 著者 Ramer JC, Ladda RL, Demuth WW タイトル Multiple pterygium syndrome. An overview. 雑誌 Am J Dis Child 142:794-8 (1988) DOI:10.1001/archpedi.1988.02150070108039 PMID:3430553 著者 Thompson EM, Donnai D, Baraitser M, Hall CM, Pembrey ME, Fixsen J タイトル Multiple pterygium syndrome: evolution of the phenotype. 雑誌 J Med Genet 24:733-49 (1987) DOI:10.1136/jmg.24.12.733 PMID:22167768 著者 Vogt J, Morgan NV, Rehal P, Faivre L, Brueton LA, Becker K, Fryns JP, Holder S, Islam L, Kivuva E, Lynch SA, Touraine R, Wilson LC, MacDonald F, Maher ER タイトル CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. 雑誌 J Med Genet 49:21-6 (2012) DOI:10.1136/jmedgenet-2011-100378 PMID:18252226 著者 Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Korber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K タイトル Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. 雑誌 Am J Hum Genet 82:464-76 (2008) DOI:10.1016/j.ajhg.2007.11.006 PMID:19076525 著者 Mayhew JF, Mychaskiw G タイトル Escobar syndrome: is this child prone to malignant hyperthermia? 雑誌 Paediatr Anaesth 19:69-70 (2009) DOI:10.1111/j.1460-9592.2008.02856.x |