KEGG   DISEASE: 線状皮膚欠損を伴う小眼球症
エントリ  
H01904                                                             
名称    
線状皮膚欠損を伴う小眼球症;
多発性先天奇形を伴う線状皮膚欠損;
MIDAS 症候群
概要    
Microphthalmia with linear skin defects (MLS) syndrome is an X-linked male-lethal disorder, also known as MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), or Linear skin defects with multiple congenital anomalies (LSDMCA). Distinctive linear skin defects are usually limited to the face and neck with areas of aplastic skin. Additional features include facial dysmorphisms, sclerocornea, corneal opacities, agenesis of the corpus callosum, ventriculomegaly, microcephaly, intellectual disability, seizures, and cardiac anomalies. The clinical manifestations vary among affected individuals. Mutations in HCCS, COX7B, and NDUFB11, that encode crucial components of the mitochondrial respiratory chain (MRC), have been identified in MLS-affected females.
カテゴリ  
先天奇形
階層分類  
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
   LD21  主な特徴として眼の異常を伴う症候群
    H01904  線状皮膚欠損を伴う小眼球症
パスウェイ 
hsa00190  Oxidative phosphorylation
hsa04714  Thermogenesis
病因遺伝子 
(LSDMCA1) HCCS [HSA:3052] [KO:K01764]
(LSDMCA2) COX7B [HSA:1349] [KO:K02271]
(LSDMCA3) NDUFB11 [HSA:54539] [KO:K11351]
リンク   
ICD-11: LD21.0
MeSH: C537466
OMIM: 309801 300887 300952
文献    
  著者
Indrieri A, Franco B
  タイトル
Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.
  雑誌
Genes (Basel) 12:263 (2021)
DOI:10.3390/genes12020263
文献    
PMID:17033964 (HCCS)
  著者
Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K
  タイトル
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
  雑誌
Am J Hum Genet 79:878-89 (2006)
DOI:10.1086/508474
文献    
PMID:23122588 (COX7B)
  著者
Indrieri A, van Rahden VA, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M, Franco B
  タイトル
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.
  雑誌
Am J Hum Genet 91:942-9 (2012)
DOI:10.1016/j.ajhg.2012.09.016
文献    
PMID:25772934 (NDUFB11)
  著者
van Rahden VA, Fernandez-Vizarra E, Alawi M, Brand K, Fellmann F, Horn D, Zeviani M, Kutsche K
  タイトル
Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.
  雑誌
Am J Hum Genet 96:640-50 (2015)
DOI:10.1016/j.ajhg.2015.02.002
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