KEGG   DISEASE: Stuve-Wiedemann syndromeHelp
Entry
H00462                      Disease                                

Name
Stuve-Wiedemann syndrome
Description
Stuve-Wiedemann syndrome is an autosomal recessively inherited disorder characterized by congenital bone dysplasia like bowing of the long bones. Mutations in LIFR result in this disease.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00462  Stuve-Wiedemann syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00462  Stuve-Wiedemann syndrome
BRITE hierarchy
Gene
LIFR [HSA:3977] [KO:K05058]
Other DBs
ICD-11: LD24.C
ICD-10: Q78.8
MeSH: C537502
OMIM: 601559
Reference
PMID:8723080
  Authors
Wiedemann HR, Stuve A.
  Title
Stuve-Wiedemann syndrome: update and historical footnote.
  Journal
Reference
  Authors
Gaspar IM, Saldanha T, Cabral P, Vilhena MM, Tuna M, Costa C, Dagoneau N, Daire VC, Hennekam RC
  Title
Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report.
  Journal
Am J Med Genet A 146A:1748-53 (2008)
DOI:10.1002/ajmg.a.32325
Reference
  Authors
Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V
  Title
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
  Journal
Am J Hum Genet 74:298-305 (2004)
DOI:10.1086/381715

» Japanese version

DBGET integrated database retrieval system