KEGG   DISEASE: Stuve-Wiedemann syndrome
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 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
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06518  JAK-STAT signaling
   H00462  Stuve-Wiedemann syndrome
Pathway
hsa04630  JAK-STAT signaling pathway
Network
nt06518 JAK-STAT signaling
Gene
(STWS1) LIFR [HSA:3977] [KO:K05058]
(STWS2) IL6ST [HSA:3572] [KO:K05060]
Other DBs
ICD-11: LD24.C
MeSH: C537502
OMIM: 601559 619751
Reference
PMID:8723080
  Authors
Wiedemann HR, Stuve A.
  Title
Stuve-Wiedemann syndrome: update and historical footnote.
  Journal
Am J Med Genet 63:12-6 (1996)
DOI:10.1002/(SICI)1096-8628(19960503)63:1<12::AID-AJMG5>3.0.CO;2-U
Reference
PMID:18546280
  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
PMID:14740318 (STWS1)
  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
Reference
PMID:31914175 (STWS2)
  Authors
Chen YH, Grigelioniene G, Newton PT, Gullander J, Elfving M, Hammarsjo A, Batkovskyte D, Alsaif HS, Kurdi WIY, Abdulwahab F, Shanmugasundaram V, Devey L, Bacrot S, Brodszki J, Huber C, Hamel B, Gisselsson D, Papadogiannakis N, Jedrycha K, Gurtl-Lackner B, Chagin AS, Nishimura G, Aschenbrenner D, Alkuraya FS, Laurence A, Cormier-Daire V, Uhlig HH
  Title
Absence of GP130 cytokine receptor signaling causes extended Stuve-Wiedemann syndrome.
  Journal
J Exp Med 217:133568 (2020)
DOI:10.1084/jem.20191306
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