AKV
MCID: ACR004
MIFTS: 39

Acrokeratosis Verruciformis (AKV)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Acrokeratosis Verruciformis

MalaCards integrated aliases for Acrokeratosis Verruciformis:

Name: Acrokeratosis Verruciformis 56 12 73 36 13 54 15 39 17
Acrokeratosis Verruciformis of Hopf 12 58 29 6 71
Hopf Disease 56 12 73
Akv 56 73
Akv of Hopf 58

Characteristics:

Orphanet epidemiological data:

58
acrokeratosis verruciformis of hopf
Inheritance: Autosomal dominant; Age of onset: Adult,Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
hyperkeratosis often present at birth but may appear later


HPO:

31
acrokeratosis verruciformis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050606
OMIM 56 101900
KEGG 36 H00755
MeSH 43 D007642
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C0265971
Orphanet 58 ORPHA79151
MedGen 41 C0265971
UMLS 71 C0265971

Summaries for Acrokeratosis Verruciformis

UniProtKB/Swiss-Prot : 73 Acrokeratosis verruciformis: A localized disorder of keratinization, which is inherited as an autosomal dominant trait. Its onset is early in life with multiple flat-topped, flesh-colored papules on the hands and feet, punctate keratoses on the palms and soles, with varying degrees of nail involvement. The histopathology shows a distinctive pattern of epidermal features with hyperkeratosis, hypergranulosis and acanthosis together with papillomatosis. These changes are frequently associated with circumscribed elevations of the epidermis that are said to resemble church spires. There are no features of dyskeratosis or acantholysis, the typical findings in lesions of Darier disease.

MalaCards based summary : Acrokeratosis Verruciformis, also known as acrokeratosis verruciformis of hopf, is related to darier-white disease and benign chronic pemphigus. An important gene associated with Acrokeratosis Verruciformis is ATP2A2 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2), and among its related pathways/superpathways are Calcium signaling pathway and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, and related phenotypes are hyperkeratosis and ridged nail

Disease Ontology : 12 A keratosis that has material basis in mutations in the ATP2A2 gene.

OMIM : 56 Acrokeratosis verruciformis of Hopf is a localized disorder of keratinization affecting the distal extremities. Onset occurs early in life (Dhitavat et al., 2003). (101900)

KEGG : 36 Acrokeratosis verruciformis is a rare autosomal dominant genodermatosis characterized by multiple planar wart-like lesions on the hands and feet. The lesions are usually present at birth. Mutations in ATP2A2 encoding the calcium pump in sarcoendoplasmic reticulum have been identified.

Wikipedia : 74 Acrokeratosis verruciformis is a rare autosomal dominant disorder appearing at birth or in early... more...

Related Diseases for Acrokeratosis Verruciformis

Diseases related to Acrokeratosis Verruciformis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 darier-white disease 30.6 ATP2A3 ATP2A2
2 benign chronic pemphigus 30.4 ATP2A3 ATP2A2
3 keratosis 30.3 KRT17 KRT1 ATP2A2
4 ichthyosis 28.2 NIPAL4 KRT17 KRT1 CYP4F22 ALOX12B
5 van den bosch syndrome 12.1
6 epidermodysplasia verruciformis 1 11.9
7 erythrokeratoderma ''en cocardes'' 10.6
8 rare genetic skin disease 10.5
9 erythroleukemia, familial 10.3
10 lymphoma 10.3
11 helix syndrome 10.2
12 leukemia 10.2
13 plasmacytoma 10.2
14 b-cell lymphoma 10.2
15 atrial standstill 1 10.2
16 basal cell nevus syndrome 10.2
17 steatocystoma multiplex 10.2
18 acrodermatitis chronica atrophicans 10.2
19 dilated cardiomyopathy 10.2
20 basal cell carcinoma 10.2
21 papilloma 10.2
22 acrodermatitis 10.2
23 epidermolysis bullosa 10.2
24 pustulosis of palm and sole 10.2
25 vasculitis 10.2
26 psoriasis 10.2
27 pemphigus 10.2
28 lichen planus 10.2
29 osteogenic sarcoma 10.1
30 diffuse large b-cell lymphoma 10.1
31 thymus lymphoma 10.1
32 juxtacortical osteosarcoma 10.1
33 malignant histiocytosis 10.1
34 splenomegaly 10.1
35 histiocytic sarcoma 10.1
36 atrophic muscular disease 10.0 ATP2A3 ATP2A2
37 brody myopathy 10.0 ATP2A3 ATP2A2
38 hereditary lymphedema ia 9.9 KRT1 ATP2A2
39 hereditary lymphedema ic 9.9 KRT1 ATP2A2
40 pachyonychia congenita 1 9.8 KRT17 KRT1
41 palmoplantar keratoderma, epidermolytic 9.7 KRT17 KRT1
42 ichthyosis, x-linked 9.7 NIPAL4 ALOX12B
43 palmoplantar keratosis 9.6 KRT17 KRT1
44 epidermolytic hyperkeratosis 9.6 NIPAL4 KRT17 KRT1
45 epidermolysis bullosa simplex 9.5 KRT17 KRT1
46 ichthyosis, congenital, autosomal recessive 7 9.4 NIPAL4 CYP4F22 ALOX12B
47 ichthyosis, congenital, autosomal recessive 1 9.4 NIPAL4 CYP4F22 ALOX12B
48 ectropion 9.4 NIPAL4 CYP4F22 ALOX12B
49 ichthyosis, congenital, autosomal recessive 4b 9.4 NIPAL4 CYP4F22 ALOX12B
50 eyelid disease 9.4 NIPAL4 CYP4F22 ALOX12B

Graphical network of the top 20 diseases related to Acrokeratosis Verruciformis:



Diseases related to Acrokeratosis Verruciformis

Symptoms & Phenotypes for Acrokeratosis Verruciformis

Human phenotypes related to Acrokeratosis Verruciformis:

31
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 31 HP:0000962
2 ridged nail 31 HP:0001807
3 acrokeratosis 31 HP:0200016
4 epidermal acanthosis 31 HP:0025092

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin Histology:
hyperkeratosis
acanthosis
papillomatosis
prominent granular cell layer
no acantholysis or dyskeratosis

Skin Nails Hair Nails:
longitudinal red and white lines
nail fragility
distal v-shaped notching
longitudinal ridging

Skin Nails Hair Skin:
multiple, flat, skin-colored warty papules (2-4mm in diameter on dorsum hands, feet, knees, and elbows)
punctate keratoses (palms and soles)

Clinical features from OMIM:

101900

MGI Mouse Phenotypes related to Acrokeratosis Verruciformis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.02 ALOX12B ATP2A2 KRT1 KRT17 NIPAL4

Drugs & Therapeutics for Acrokeratosis Verruciformis

Search Clinical Trials , NIH Clinical Center for Acrokeratosis Verruciformis

Genetic Tests for Acrokeratosis Verruciformis

Genetic tests related to Acrokeratosis Verruciformis:

# Genetic test Affiliating Genes
1 Acrokeratosis Verruciformis of Hopf 29 ATP2A2

Anatomical Context for Acrokeratosis Verruciformis

MalaCards organs/tissues related to Acrokeratosis Verruciformis:

40
Skin

Publications for Acrokeratosis Verruciformis

Articles related to Acrokeratosis Verruciformis:

(show top 50) (show all 67)
# Title Authors PMID Year
1
Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease. 56 6 54 61
12542527 2003
2
A sporadic patient with acrokeratosis verruciformis of Hopf and a novel ATP2A2 mutation. 6 61
20518781 2010
3
Acrokeratosis verruciformis (Hopf) report of 14 cases in one family in four generations, with a review of the literature. 56 61
20251558 1947
4
Late-onset non-familial acrokeratosis verruciformis of Hopf: a case report. 61
31696902 2019
5
Dermoscopy of acrokeratosis verruciformis of Hopf. 61
28711099 2017
6
Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease. 61
28498512 2017
7
Brief Report: HPV-17 Infection in Darier Disease With Acrokeratosis Verrucosis of Hopf. 61
28426487 2017
8
Acrokeratosis verruciformis of Hopf exhibiting Darier disease-like cytological features. 61
27663152 2016
9
Acrokeratosis verruciformis of Hopf - Case report. 61
27828639 2016
10
Whole-exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis verruciformis. 61
25622760 2016
11
Acrokeratosis Verruciformis of Hopf Clinically Mimicking Epidermodysplasia Verruciformis. 61
27057054 2016
12
Nonfamilial acrokeratosis verruciformis of Hopf. 61
25821733 2015
13
Acrokeratosis verruciformis of Hopf in family. 61
25506556 2014
14
Acrokeratosis verruciformis of hopf along lines of blaschko. 61
24082200 2013
15
Late-onset Darier's disease due to a novel missense mutation in the ATP2A2 gene: a different missense mutation affecting the same codon has been previously reported in acrokeratosis verruciformis. 61
23289714 2013
16
Acrokeratosis verruciformis. 61
23286802 2012
17
Acrokeratosis verruciformis of Hopf showing P602L mutation in ATP2A2 and overlapping histopathological features with Darier disease. 61
22814319 2012
18
Non-familial Acrokeratosis Verruciformis of Hopf. 61
22028575 2011
19
Longitudinal erythronychia: individual or multiple linear red bands of the nail plate: a review of clinical features and associated conditions. 61
21668031 2011
20
Acrokeratosis verruciformis of hopf associated with dilated cardiomyopathy. 61
20161869 2009
21
Acitretin treatment in acrokeratosis verruciformis of Hopf. 61
17520472 2007
22
Genetic heterogeneity in acrokeratosis verruciformis of Hopf. 61
16716163 2006
23
Acrokeratosis verruciformis of Hopf (Hopf disease): case report and review of the literature. 61
16150218 2005
24
Darier's disease in Singapore. 61
15727640 2005
25
Acrokeratosis Verruciformis of Hopf: a localized variant. 61
15624756 2004
26
Coexistence of Darier's disease and acrokeratosis verruciformis of Hopf. 61
15515213 2004
27
Unusual association between acrokeratosis verruciformis of Hopf and multiple keratoacanthomas. Successful therapy with acitretin. 61
16281601 2004
28
Cowden syndrome - Report of two cases. 61
20885038 1999
29
Unilateral Darier's disease. 61
20944368 1997
30
[Acrokeratosis verruciformis-like changes in Darier disease]. 61
9378638 1997
31
Hailey-Hailey disease with acrokeratosis verruciformis Hopf. 61
8740277 1996
32
Acrokeratosis verruciformis of Hopf. 61
20953022 1995
33
Persistent flat-topped papules on the extremities. Acrokeratosis verruciformis (AKV) of Hopf. 61
8166491 1994
34
The phenotype of Darier's disease: penetrance and expressivity in adults and children. 61
1390140 1992
35
Nevoid basal cell carcinoma syndrome and acrokeratosis verruciformis. Occurrence of two rare inherited autosomal dominant conditions in the same patient. 61
2340927 1990
36
Specific dermatoglyphic patterns: a characteristic manifestation of acantholytic dyskeratotic dermatoses. 61
2808831 1989
37
[Lectin staining of disorders of keratinization. I. Ichthyosis, Darier's disease and acrokeratosis verruciformis]. 61
2459572 1988
38
[Hopf's acrokeratosis verruciformis or acral Darier's disease]. 61
3239922 1988
39
[Hopf's acrokeratosis verruciformis. Communication of a non-familial case]. 61
3323700 1987
40
[Hopf's acrokeratosis verruciformis]. 61
3765814 1986
41
The cutaneous pathology of extrafacial lesions in Cowden's disease. 61
6512063 1984
42
Histopathologic varieties of epidermal nevus. A study of 160 cases. 61
7048967 1982
43
Multiple keratoacanthomas associated with steatocystoma multiplex and rheumatoid arthritis. A case report. 61
7406520 1980
44
[Coexistence of acrokeratosis verruciformis with epidermolysis bullosa]. 61
7244464 1980
45
Darier's Disease. 61
28266454 1978
46
[Association of verruciform acrokeratosis with congenital poikiloderma as a dermatologic entity]. 61
658575 1978
47
Acrokeratosis verruciformis: (Hopf)--A clinical entity? 61
871401 1977
48
[Problem of concomitant occurrence of Hopf's acrokeratosis verruciformis and Darrier's disease]. 61
4442135 1974
49
Acrokeratosis verruciformis of Hopf. 61
5039112 1972
50
Acrokeratosis verruciformis of Hopf with steatocystoma multiplex and hypertrophic lichen planus. 61
5060425 1972

Variations for Acrokeratosis Verruciformis

ClinVar genetic disease variations for Acrokeratosis Verruciformis:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP2A2 NM_170665.4(ATP2A2):c.2093C>T (p.Ala698Val)SNV Pathogenic 29610 rs387906594 12:110778795-110778795 12:110340990-110340990
2 ATP2A2 NM_170665.4(ATP2A2):c.1805C>T (p.Pro602Leu)SNV Pathogenic 17799 rs121912737 12:110778507-110778507 12:110340702-110340702

UniProtKB/Swiss-Prot genetic disease variations for Acrokeratosis Verruciformis:

73
# Symbol AA change Variation ID SNP ID
1 ATP2A2 p.Pro602Leu VAR_017532 rs121912737

Expression for Acrokeratosis Verruciformis

Search GEO for disease gene expression data for Acrokeratosis Verruciformis.

Pathways for Acrokeratosis Verruciformis

Pathways related to Acrokeratosis Verruciformis according to KEGG:

36
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020

Pathways related to Acrokeratosis Verruciformis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.29 KRT17 KRT1
2 11.16 ATP2A3 ATP2A2
3 10.89 ATP2A3 ATP2A2
4 10.39 ATP2A3 ATP2A2

GO Terms for Acrokeratosis Verruciformis

Cellular components related to Acrokeratosis Verruciformis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcoplasmic reticulum GO:0016529 9.16 ATP2A3 ATP2A2
2 sarcoplasmic reticulum membrane GO:0033017 8.96 ATP2A3 ATP2A2
3 platelet dense tubular network membrane GO:0031095 8.62 ATP2A3 ATP2A2

Biological processes related to Acrokeratosis Verruciformis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 9.32 KRT17 KRT1
2 cellular calcium ion homeostasis GO:0006874 9.26 ATP2A3 ATP2A2
3 epidermis development GO:0008544 9.16 KRT17 ATP2A2
4 regulation of cardiac conduction GO:1903779 8.96 ATP2A3 ATP2A2
5 establishment of skin barrier GO:0061436 8.62 KRT1 ALOX12B

Molecular functions related to Acrokeratosis Verruciformis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proton-exporting ATPase activity, phosphorylative mechanism GO:0008553 8.96 ATP2A3 ATP2A2
2 calcium-transporting ATPase activity GO:0005388 8.62 ATP2A3 ATP2A2

Sources for Acrokeratosis Verruciformis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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