| H00740 | |
| H番号 | H00740 |
| 名称 | IFAP 症候群 |
| 概要 | Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X-linked genetic disorder characterized by congenital ichthyosis follicularis and noncicatricial universal alopecia. Photophobia is also present in early childhood. Other features include short stature, seizures, and mental retardation. The causative gene is MBTPS2 which encodes a membrane-embedded zinc metalloprotease involved in endoplasmic reticulum stress response. Recently, it has been reported that mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal dominant IFAP syndrome. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (IFAP1) MBTPS2 [HSA:51360] [KO:K07765] (IFAP2) SREBF1 [HSA:6720] [KO:K07197] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD27.2 MeSH: C536085 OMIM: 308205 619016 |
| 文献 | PMID:21600032 著者 Megarbane H, Megarbane A タイトル Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. 雑誌 Orphanet J Rare Dis 6:29 (2011) DOI:10.1186/1750-1172-6-29 PMID:14708109 著者 Megarbane H, Zablit C, Waked N, Lefranc G, Tomb R, Megarbane A タイトル Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review. 雑誌 Am J Med Genet A 124A:323-7 (2004) DOI:10.1002/ajmg.a.20352 PMID:9714442 著者 Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA タイトル Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man. 雑誌 Am J Med Genet 78:371-7 (1998) DOI:10.1002/(SICI)1096-8628(19980724)78:4<371::AID-AJMG13>3.0.CO;2-F PMID:32497488 著者 Wang H, Humbatova A, Liu Y, Qin W, Lee M, Cesarato N, Kortum F, Kumar S, Romano MT, Dai S, Mo R, Sivalingam S, Motameny S, Wu Y, Wang X, Niu X, Geng S, Bornholdt D, Kroisel PM, Tadini G, Walter SD, Hauck F, Girisha KM, Calza AM, Bottani A, Altmuller J, Buness A, Yang S, Sun X, Ma L, Kutsche K, Grzeschik KH, Betz RC, Lin Z タイトル Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome. 雑誌 Am J Hum Genet 107:34-45 (2020) DOI:10.1016/j.ajhg.2020.05.006 |