| H00611 | |
| H番号 | H00611 |
| 名称 | 膝窩部贅皮症候群 |
| 概要 | Popliteal pterygium syndrome (PPS) is an autosomal dominant orofacial cleft syndrome caused by IRF6 mutations. Clinical manifestations of PPS include cleft lip and/or palate in association with webcausing popliteal connective tissue, syndactyly, and genital abnormalities. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | IRF6 [HSA:3664] [KO:K10154] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Isolated orofacial clefts are described in H00516. |
| リンク | ICD-11: LD2F.1Y ICD-10: Q87.2 MeSH: C562509 OMIM: 119500 |
| 文献 | PMID:20803643 著者 Matsuzawa N, Kondo S, Shimozato K, Nagao T, Nakano M, Tsuda M, Hirano A, Niikawa N, Yoshiura K タイトル Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome. 雑誌 Am J Med Genet A 152A:2262-7 (2010) DOI:10.1002/ajmg.a.33338 PMID:20301581 著者 Durda KM, Schutte BC, Murray JC タイトル IRF6-Related Disorders 雑誌 GeneReviews (1993) |