KEGG   DISEASE: 脊椎骨端異形成・感音性難聴・知的発達障害およびレーバー先天性黒内障
エントリ  
H02950                                                             
名称    
脊椎骨端異形成・感音性難聴・知的発達障害およびレーバー先天性黒内障
概要    
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis (SHILCA) is a novel autosomal recessive multiple systemic disorder. It has been reported that mutations in NMNAT1 cause this disease. NMNAT1 plays a key role in the biosynthesis of nicotinamide adenine dinucleotide (NAD).
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
    H02950  脊椎骨端異形成・感音性難聴・知的発達障害およびレーバー先天性黒内障
病因遺伝子 
NMNAT1 [HSA:64802] [KO:K06210]
リンク   
ICD-11: LD2F.Y
OMIM: 619260
文献    
PMID:33668384
  著者
Abad-Morales V, Wert A, Ruiz Gomez MA, Navarro R, Pomares E
  タイトル
New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and  Identification of a Novel Alternative Isoform.
  雑誌
Int J Mol Sci 22:ijms22052262 (2021)
DOI:10.3390/ijms22052262
文献    
PMID:32533184
  著者
Bedoni N, Quinodoz M, Pinelli M, Cappuccio G, Torella A, Nigro V, Testa F, Simonelli F, Corton M, Lualdi S, Lanza F, Morana G, Ayuso C, Di Rocco M, Filocamo M, Banfi S, Brunetti-Pierri N, Superti-Furga A, Rivolta C
  タイトル
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
  雑誌
Hum Mol Genet 29:2250-2260 (2020)
DOI:10.1093/hmg/ddaa112
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