KEGG   DISEASE: IFAP 症候群
エントリ  
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
階層分類  
ヒト疾患 [BR:jp08402]
 先天奇形
  皮膚の先天奇形
   H00740  IFAP 症候群
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD27  主な特徴として皮膚または粘膜の異常を伴う症候群
    H00740  IFAP 症候群
関連パスウェイ
hsa04910  Insulin signaling pathway
hsa04141  Protein processing in endoplasmic reticulum
hsa04152  AMPK signaling pathway
病因遺伝子 
(IFAP1) MBTPS2 [HSA:51360] [KO:K07765]
(IFAP2) SREBF1 [HSA:6720] [KO:K07197]
リンク   
ICD-11: LD27.2
MeSH: C536085
OMIM: 308205 619016
文献    
  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
文献    
  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
文献    
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
文献    
  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
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