KEGG   DISEASE: Morimoto-Ryu-Malicdan neuromuscular syndrome
Entry
H02840                      Disease                                
Name
Morimoto-Ryu-Malicdan neuromuscular syndrome
Description
Morimoto-Ryu-Malicdan neuromuscular syndrome (MRMNS) is a novel multisystemic disorder characterized by incoordination and muscle weakness, hearing impairment, and decreased body weight. It has been reported that mutations in RFC4 cause this syndrome. RFC4 encodes a subunit of the replication factor C (RFC) complex required for DNA replication.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H02840  Morimoto-Ryu-Malicdan neuromuscular syndrome
Pathway-based classification of diseases [BR:br08402]
 Replication and repair
  nt06509  DNA replication
   H02840  Morimoto-Ryu-Malicdan neuromuscular syndrome
Pathway
hsa03030 DNA replication   
Network
nt06509 DNA replication
Gene
RFC4 [HSA:5984] [KO:K10755]
Other DBs
ICD-11: LD20.Y
OMIM: 621010
Reference
PMID:39106866
  Authors
Morimoto M, Ryu E, Steger BJ, Dixit A, Saito Y, Yoo J, van der Ven AT, Hauser N, Steinbach PJ, Oura K, Huang AY, Kortum F, Ninomiya S, Rosenthal EA, Robinson HK, Guegan K, Denecke J, Subramony SH, Diamonstein CJ, Ping J, Fenner M, Balton EV, Strohbehn S, Allworth A, Bamshad MJ, Gandhi M, Dipple KM, Blue EE, Jarvik GP, Lau CC, Holm IA, Weisz-Hubshman M, Solomon BD, Nelson SF, Nishino I, Adams DR, Kang S, Gahl WA, Toro C, Myung K, Malicdan MCV
  Title
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.
  Journal
Am J Hum Genet 111:1970-1993 (2024)
DOI:10.1016/j.ajhg.2024.07.008
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