Details of Disease

General Information of Disease (ID: DIS45JEK)

Disease Name Acrokeratosis verruciformis
Synonyms AKV; AKV of Hopf; Hopf disease; acrokeratosis verruciformis; acrokeratosis verruciformis of Hopf
Definition
A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows.
Disease Hierarchy
DISF0NF1: Keratosis
DISSCALK: Hereditary skin disorder
DIS45JEK: Acrokeratosis verruciformis
Disease Identifiers
MONDO ID
MONDO_0007048
MESH ID
D007644
UMLS CUI
C0265971
OMIM ID
101900
MedGen ID
75589
Orphanet ID
79151
SNOMED CT ID
400085009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ATP2A2 TTE6THL Limited Genetic Variation [1]
ATP2A2 TTE6THL Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATP2A2 OTPGAU0U Definitive Autosomal dominant [2]
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References

1 Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease.Am J Med Genet A. 2017 Jul;173(7):1975-1978. doi: 10.1002/ajmg.a.38268. Epub 2017 May 12.
2 Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease. J Invest Dermatol. 2003 Feb;120(2):229-32. doi: 10.1046/j.1523-1747.2003.t01-1-12045.x.