Details of Disease | DrugMAP

General Information of Disease (ID: DISBJ81H)

Disease Name	Stve-Wiedemann syndrome 1
Synonyms	Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome; Schwartz-Jampel syndrome, type 2; neonatal Schwartz-Jampel syndrome type 2; Stuve-Wiedemann syndrome; STUVE-Wiedemann syndrome; Stve-Wiedemann syndrome; SWS; Stws; Schwartz-Jampel syndrome neonatal; SJS2; neonatal Schwartz-Jampel syndrome; Schwartz-Jampel syndrome, neonatal; Schwartz-Jampel syndrome type 2; Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome; Stve-Wiedemann dysplasia; STWS; Stve-Wiedemann/Schwartz-Jampel type 2 syndrome
Definition	A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.
Disease Hierarchy	DIS3HCR8: Schwartz-Jampel syndrome DISOZHVP: Bent bone dysplasia DIS6ABFA: Stuve-Wiedemann syndrome DISBJ81H: Stve-Wiedemann syndrome 1
Disease Identifiers	MONDO ID MONDO_0800043 UMLS CUI C5676888 OMIM ID 601559 MedGen ID 1803541 Orphanet ID 3206

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LIFR	TTID542	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LIFR	OT36W9O5	Definitive	Autosomal recessive	[1]
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References

1	Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet. 2004 Feb;74(2):298-305. doi: 10.1086/381715. Epub 2004 Jan 21.