Details of Disease | DrugMAP

General Information of Disease (ID: DIS6ABFA)

Disease Name	Stuve-Wiedemann syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DIS6ABFA: Stuve-Wiedemann syndrome
Disease Identifiers	MONDO ID MONDO_0031280 MESH ID C537502 UMLS CUI C0796176 MedGen ID 167109 SNOMED CT ID 254097005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PNPLA6	TTWAQU2	Limited	Genetic Variation	[1]
CRLF1	TT6YF5K	Strong	Biomarker	[2]
LIFR	TTID542	Strong	Genetic Variation	[1]
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References

1	Virtual touch tissue imaging and quantification (VTIQ) in the evaluation of breast lesions: The associated factors leading to misdiagnosis.Eur J Radiol. 2019 Jan;110:97-104. doi: 10.1016/j.ejrad.2018.11.021. Epub 2018 Nov 20.
2	Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. Am J Hum Genet. 2007 May;80(5):971-81. doi: 10.1086/516843. Epub 2007 Mar 30.