KEGG   DISEASE: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Entry
H02987                      Disease                                
Name
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02987  Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Pathway-based classification of diseases [BR:br08402]
 Replication, repair and transcription
  nt06547  Spliceosome
   H02987  Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Network
nt06547 Spliceosome
Gene
GEMIN5 [HSA:25929] [KO:K13133]
Other DBs
ICD-11: LD90.Y
OMIM: 619333
Reference
PMID:33963192
  Authors
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
  Title
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
  Journal
Nat Commun 12:2558 (2021)
DOI:10.1038/s41467-021-22627-w
Reference
PMID:38526274
  Authors
Nelson CH, Pandey UB
  Title
Function and dysfunction of GEMIN5: understanding a novel neurodevelopmental disorder.
  Journal
Neural Regen Res 19:2377-2386 (2024)
DOI:10.4103/NRR.NRR-D-23-01614
LinkDB

» Japanese version

DBGET integrated database retrieval system