| H00462 | |
| H number | H00462 |
| 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 |
| Network | - |
| Gene | (STWS1) LIFR [HSA:3977] [KO:K05058] (STWS2) IL6ST [HSA:3572] [KO:K05060] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.C ICD-10: Q78.8 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 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 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 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 |