H00740 | |
H number | H00740 |
Name | Ichthyosis follicularis, alopecia, and photophobia syndrome |
Description | 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. |
Category | Congenital malformation |
Network | - |
Gene | (IFAP1) MBTPS2 [HSA:51360] [KO:K07765] (IFAP2) SREBF1 [HSA:6720] [KO:K07197] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD27.2 MeSH: C536085 OMIM: 308205 619016 |
Reference | PMID:21600032 AUTHORS Megarbane H, Megarbane A TITLE Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. JOURNAL Orphanet J Rare Dis 6:29 (2011) DOI:10.1186/1750-1172-6-29 PMID:14708109 AUTHORS Megarbane H, Zablit C, Waked N, Lefranc G, Tomb R, Megarbane A TITLE Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review. JOURNAL Am J Med Genet A 124A:323-7 (2004) DOI:10.1002/ajmg.a.20352 PMID:9714442 AUTHORS Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA TITLE Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man. JOURNAL 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 AUTHORS 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 TITLE Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome. JOURNAL Am J Hum Genet 107:34-45 (2020) DOI:10.1016/j.ajhg.2020.05.006 |