| H00781 | |
| H番号 | H00781 |
| 名称 | Schopf-Schulz-Passarge 症候群 |
| 概要 | Schopf-Schulz-Passarge syndrome (SSPS) is a rare ectodermal dysplasia resulted from mutations in the WNT10A. The combination of multiple eyelid apocrine hidrocystomas, hypodontia, palmoplantar keratoderma, hypotrichosis and nail dystrophy characterize the disease. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | WNT10A [HSA:80326] [KO:K01357] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | WNT10A mutations also underlie odonto-onycho-dermal dysplasia (H00646). |
| リンク | ICD-11: LD27.0Y ICD-10: Q82.8 MeSH: C565607 OMIM: 224750 |
| 文献 | PMID:19002348 著者 Castori M, Ruggieri S, Giannetti L, Annessi G, Zambruno G タイトル Schopf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations. 雑誌 Acta Derm Venereol 88:607-12 (2008) DOI:10.2340/00015555-0547 PMID:21143469 著者 Castori M, Castiglia D, Brancati F, Foglio M, Heath S, Floriddia G, Madonna S, Fischer J, Zambruno G タイトル Two families confirm Schopf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. 雑誌 Clin Genet 79:92-5 (2011) DOI:10.1111/j.1399-0004.2010.01513.x PMID:21834823 著者 Petrof G, Fong K, Lai-Cheong JE, Cockayne SE, McGrath JA タイトル Schopf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A. 雑誌 Australas J Dermatol 52:224-6 (2011) DOI:10.1111/j.1440-0960.2011.00788.x |