KEGG   DISEASE: Ichthyosis follicularis, alopecia, and photophobia syndrome
Entry
H00740                      Disease                                
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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H00740  Ichthyosis follicularis, alopecia, and photophobia syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00740  Ichthyosis follicularis, alopecia, and photophobia syndrome
Related
pathway
hsa04910  Insulin signaling pathway
hsa04141  Protein processing in endoplasmic reticulum
hsa04152  AMPK signaling pathway
Gene
(IFAP1) MBTPS2 [HSA:51360] [KO:K07765]
(IFAP2) SREBF1 [HSA:6720] [KO:K07197]
Other DBs
ICD-11: LD27.2
MeSH: C536085
OMIM: 308205 619016
Reference
  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
Reference
  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
Reference
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
Reference
  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
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