Acrokeratosis verruciformis of Hopf
Synonyms: AKV of Hopf
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Infancy, Neonatal
- Status
- active
A rare, genetic, acrokeratoderma disease characterized by multiple, symmetrical, asymptomatic, skin-colored (rarely, brownish), flat-topped, wart-like papules located on the dorsal aspects of the hands and feet (occasionally found on other parts of the body, such as knees, elbows and forearms), typically associated with palmoplantar punctate keratosis and variable nail involvement (including leukonychia, thickening, ridging, longitudinal striations and splitting). Histology reveals undulating hyperkeratosis, papillomatosis, hypergranulosis, and acanthosis, creating a characteristic 'church spire' appearance, with no acantholysis nor dyskeratosis associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrokeratosis verruciformis of Hopf | AKV of Hopf |
| fr | Acrokératose verruciforme de Hopf | AKV de Hopf |
| de | Acrokeratosis verruciformis Hopf | |
| es | Acroqueratosis verruciforme de Hopf | |
| it | Acrocheratosi verruciforme di Hopf | |
| nl | Acrokeratosis verruciformis van Hopf | AKV van Hopf |
| pt | Acroqueratose verruciforme de Hopf | |
| pl | Rogowacenie brodawkowate dłoni i stóp Hopfa | = en |
| cs | Hopfova veruciformní akrokeratóza | = en |
| uk | Акрокератоз верукозний Хопфа | AKV з Хопфа |
| zh | Hopf疣状肢端角化病 | = en |
| tr | Hopf akrokeratoz verruciformis | Hopf'un AKV'si |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 101900 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.Y | NTBT | index | validated |
| MONDO | 0007048 | E | validated | |
| UMLS | C0265971 | E | validated | |
| MedDRA | 10069445 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79356Acrokeratoderma
rare skin diseases - ORPHA:183441Genetic acrokeratoderma
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP2A2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:812 | ENSG00000174437 | 108740 | 12q24.11 | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | 12542527[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
12 annotations · validated 2021-02-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025092 | Epidermal acanthosis | |
| HP:0025114 | Hypergranulosis | |
| HP:0000962 | Hyperkeratosis | |
| HP:0008404 | Nail dystrophy | |
| HP:0025512 | Skin-colored papule | |
| Frequent (79-30%) | ||
| HP:0001820 | Leukonychia | |
| HP:0007530 | Punctate palmoplantar hyperkeratosis | |
| HP:0200035 | Skin plaque | |
| HP:0200043 | Verrucae | |
| Occasional (29-5%) | ||
| HP:0001798 | Anonychia | |
| Excluded (0%) | ||
| HP:0100792 | Acantholysis | |
| HP:0001036 | Parakeratosis | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 16150218[PMID]_3072593[PMID]_12542527[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79151
- This record as JSON: /data/d/79151.json