Acrokeratosis verruciformis of Hopf

General Information (adopted from Orphanet):

Synonyms, Signs: HOPF DISEASE
AKV
Number of Symptoms 13
OrphanetNr: 79151
OMIM Id: 101900
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA: 10069445
Snomed: 400085009

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Acrokeratoderma
 -Rare skin disease
Genetic acrokeratoderma
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0200016) Acrokeratosis 4 / 7739
2
(HPO:0000956) Acanthosis nigricans 54 / 7739
3
(HPO:0000962) Hyperkeratosis 216 / 7739
4
(HPO:0001807) Ridged nail 20 / 7739
5
(OMIM) Nail fragility 2 / 7739
6
(OMIM) No acantholysis or dyskeratosis 1 / 7739
7
(OMIM) Punctate keratoses (palms and soles) 1 / 7739
8
(OMIM) Prominent granular cell layer 1 / 7739
9
(OMIM) Papillomatosis 4 / 7739
10
(OMIM) Longitudinal red and white lines 1 / 7739
11
(OMIM) Distal V-shaped notching 2 / 7739
12
(OMIM) Multiple, flat, skin-colored warty papules (2-4mm in diameter on dorsum hands, feet, knees, and elbows) 1 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Acrokeratosis verruciformis of Hopf is a localized disorder of keratinization affecting the distal extremities. Onset occurs early in life (Dhitavat et al., 2003).
Clinical Description OMIM In the family with acrokeratosis verruciformis of Hopf reported by Niedelman (1947) and Niedelman and McKusick (1962), the dorsum of the hands was affected first and most conspicuously. Older individuals tended to have hyperkeratosis of the elbows and ...
Molecular genetics OMIM Dhitavat et al. (2003) studied a family with acrokeratosis verruciformis in 6 generations and identified a heterozygous pro602-to-leu mutation in ATP2A2 (P602L; 108740.0011). This mutation predicted a nonconservative amino acid substitution in the ATP binding domain of the ...