| H00847 | |
| H番号 | H00847 |
| 名称 | Al-Awadi/Raas-Rothschild 症候群 |
| 概要 | Al-Awadi/Raas-Rothschild syndrome (AARRS) is a limb malformation disorder that has overlapping phenotype with Fuhrmann syndrome, but more-severe limb truncation is observed. This is due to complete loss of WNT7A function in AARRS whereas impairment is partial in Fuhrmann syndrome. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | WNT7A [HSA:7476] [KO:K00572] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD26.Y ICD-10: Q87.2 MeSH: C535612 OMIM: 276820 |
| 文献 | PMID:8423611 著者 Camera G, Ferraiolo G, Leo D, Spaziale A, Pozzolo S タイトル Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance. 雑誌 J Med Genet 30:65-9 (1993) DOI:10.1136/jmg.30.1.65 PMID:16826533 著者 Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S タイトル Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. 雑誌 Am J Hum Genet 79:402-8 (2006) DOI:10.1086/506332 PMID:21271649 著者 Garavelli L, Wischmeijer A, Rosato S, Gelmini C, Reverberi S, Sassi S, Ferrari A, Mari F, Zabel B, Lausch E, Unger S, Superti-Furga A タイトル Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation. 雑誌 Am J Med Genet A 155A:332-6 (2011) DOI:10.1002/ajmg.a.33793 |