Details of Disease

General Information of Disease (ID: DIS8KG10)

Disease Name Keratoderma hereditarium mutilans
Synonyms
VOWNKL; KHM; mutilating keratoderma; deafness, congenital, with KERATOPACHYDERMIA and constrictions of fingers and toes; mutilating keratoderma plus deafness; PPK mutilans and deafness; keratoderma hereditarium mutilans; mutilating keratoderma of Vohwinkel; Vohwinkel syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISTXWNT: Integumentary system disorder
DIS8KG10: Keratoderma hereditarium mutilans
Disease Identifiers
MONDO ID
MONDO_0007422
MESH ID
C536457
UMLS CUI
C0265964
OMIM ID
124500
MedGen ID
78579
Orphanet ID
494
SNOMED CT ID
24559001

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
GJB2 TTRGZX3 Limited Biomarker [1]
GCLM TTNFESW Strong Biomarker [2]
GJB2 TTRGZX3 Definitive Autosomal dominant [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LORICRIN OTFRPVEO Strong Biomarker [1]
GJB2 OTBKLEYB Definitive Autosomal dominant [3]
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References

1 G59S mutation in the GJB2 gene in a Chinese family with classic Vohwinkel syndrome.J Dermatol. 2019 Feb;46(2):154-157. doi: 10.1111/1346-8138.14727. Epub 2018 Dec 19.
2 Down-regulation of CD98 in melphalan-resistant myeloma cells with reduced drug uptake.Acta Haematol. 2000;103(3):144-51. doi: 10.1159/000041037.
3 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.