KEGG   DISEASE: 小脳萎縮および運動機能障害を伴う神経発達障害
エントリ  
H02987                                                             
名称    
小脳萎縮および運動機能障害を伴う神経発達障害
概要    
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) is a novel autosomal recessive disorder characterized by developmental delay, hypotonia, and cerebellar ataxia. It has been reported that mutations in GEMIN5 cause this disease. GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins, the building blocks of spliceosomes.
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
  LD90  関連する臨床的特徴として知的発達障害を伴う病状
   H02987  小脳萎縮および運動機能障害を伴う神経発達障害
パスウェイに基づく疾患分類 [BR:jp08402]
 Replication, repair and transcription
  nt06547  スプライソソーム
   H02987  小脳萎縮および運動機能障害を伴う神経発達障害
ネットワーク
nt06547 Spliceosome
病因遺伝子 
GEMIN5 [HSA:25929] [KO:K13133]
リンク   
ICD-11: LD90.Y
OMIM: 619333
文献    
PMID:33963192
  著者
Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schoneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bonnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB
  タイトル
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
  雑誌
Nat Commun 12:2558 (2021)
DOI:10.1038/s41467-021-22627-w
文献    
PMID:38526274
  著者
Nelson CH, Pandey UB
  タイトル
Function and dysfunction of GEMIN5: understanding a novel neurodevelopmental disorder.
  雑誌
Neural Regen Res 19:2377-2386 (2024)
DOI:10.4103/NRR.NRR-D-23-01614
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