KEGG   DISEASE: Mandibulofacial dysostosis with alopecia
エントリ  
H02126                                                             
名称    
Mandibulofacial dysostosis with alopecia
概要    
Mandibulofacial dysostosis with alopecia (MFDA) is a syndrome caused by de novo missense substitutions in EDNRA gene. The mandibulofacial dysostoses (MFDs) are characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids. All MFDA-affected individuals present with alopecia.
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
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H02126  Mandibulofacial dysostosis with alopecia
パスウェイに基づく疾患分類 [BR:jp08402]
 内分泌系
  nt06325  ホルモンとサイトカインのシグナリング
   H02126  Mandibulofacial dysostosis with alopecia
パスウェイ 
hsa04020  Calcium signaling pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04024  cAMP signaling pathway
ネットワーク
nt06325 Hormone/cytokine signaling
病因遺伝子 
EDNRA [HSA:1909] [KO:K04197]
リンク   
ICD-11: LD2F.16
OMIM: 616367
文献    
PMID:16116593
  著者
Cushman LJ, Torres-Martinez W, Weaver DD
  タイトル
Johnson-McMillin syndrome: report of a new case with novel features.
  雑誌
Birth Defects Res A Clin Mol Teratol 73:638-41 (2005)
DOI:10.1002/bdra.20178
文献    
PMID:25772936 (EDNRA)
  著者
Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares AL, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschke P, Delrue MA, Lacombe D, Guion-Almeida ML, Moura PP, Garib DG, Munnich A, Ernfors P, Hufnagel RB, Hopkin RJ, Kurihara H, Saal HM, Weaver DD, Katsanis N, Lyonnet S, Golzio C, Clouthier DE, Amiel J
  タイトル
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.
  雑誌
Am J Hum Genet 96:519-31 (2015)
DOI:10.1016/j.ajhg.2015.01.015
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