KEGG   DISEASE: Long-Olsen-Distelmaier syndrome
Entry
H02697                      Disease                                
Name
Long-Olsen-Distelmaier syndrome
Description
Long-Olsen-Distelmaier syndrome (LNGODS) is a syndromic fetal dilated cardiomyopathy associated with hepatopathy and brain abnormalities. It has been reported that gain-of-function mutations in RRAGC cause this disease. RRAGC encodes a Rag protein that is part of a unique family of small GTPases known to regulate mTORC1 signaling.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Diseases of the myocardium or cardiac chambers
   BC43  Cardiomyopathy
    H02697  Long-Olsen-Distelmaier syndrome
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06522  mTOR signaling
   H02697  Long-Olsen-Distelmaier syndrome
Pathway
hsa04150 mTOR signaling pathway   
Network
nt06522 mTOR signaling
Gene
RRAGC [HSA:64121] [KO:K16186]
Other DBs
ICD-11: BC43.0
ICD-10: I42.0
OMIM: 620609
Reference
PMID:27234373
  Authors
Long PA, Zimmermann MT, Kim M, Evans JM, Xu X, Olson TM
  Title
De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathy.
  Journal
Hum Genet 135:909-917 (2016)
DOI:10.1007/s00439-016-1685-3
Reference
PMID:37057673
  Authors
Reijnders MRF, Seibt A, Brugger M, Lamers IJC, Ott T, Klaas O, Horvath J, Rose AMS, Craghill IM, Brunet T, Graf E, Mayerhanser K, Hellebrekers D, Pauck D, Neuen-Jacob E, Rodenburg RJT, Wieczorek D, Klee D, Mayatepek E, Driessen G, Bindermann R, Averdunk L, Lohmeier K, Sinnema M, Stegmann APA, Roepman R, Poulter JA, Distelmaier F
  Title
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
  Journal
Genet Med 25:100838 (2023)
DOI:10.1016/j.gim.2023.100838
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