Details of Disease

General Information of Disease (ID: DIS18PKK)

Disease Name Loricrin keratoderma
Synonyms
Vohwinkel syndrome, variant form; mutilating keratoderma with ichthyosis; Camisa disease; loricrin keratoderma; keratoderma hereditarium mutilans with ichthyosis; keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome; Vohwinkel syndrome with ichthyosis
Definition
A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.
Disease Hierarchy
DIS6O9JS: Diffuse palmoplantar keratoderma
DIS18PKK: Loricrin keratoderma
Disease Identifiers
MONDO ID
MONDO_0011396
MESH ID
C565826
UMLS CUI
C1858805
OMIM ID
604117
MedGen ID
395099
Orphanet ID
79395
SNOMED CT ID
717183001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LORICRIN OTFRPVEO Strong Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.