AKV
MCID: ACR004
MIFTS: 40

Acrokeratosis Verruciformis (AKV)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Acrokeratosis Verruciformis

MalaCards integrated aliases for Acrokeratosis Verruciformis:

Name: Acrokeratosis Verruciformis 57 12 72 36 13 54 15 39 17
Acrokeratosis Verruciformis of Hopf 12 58 29 6 70
Hopf Disease 57 12 72
Akv 57 72
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®:

57 (Updated 20-May-2021)
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® 57 101900
KEGG 36 H00755
MeSH 44 D007642
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 71 C0265971
Orphanet 58 ORPHA79151
MedGen 41 C0265971
UMLS 70 C0265971

Summaries for Acrokeratosis Verruciformis

UniProtKB/Swiss-Prot : 72 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 Celecoxib Pathway, Pharmacodynamics. Affiliated tissues include skin and thymus, and related phenotypes are hyperkeratosis and epidermal acanthosis

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

OMIM® : 57 Acrokeratosis verruciformis of Hopf is a localized disorder of keratinization affecting the distal extremities. Onset occurs early in life (Dhitavat et al., 2003). (101900) (Updated 20-May-2021)

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 : 73 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 51)
# Related Disease Score Top Affiliating Genes
1 darier-white disease 30.4 ATP2A3 ATP2A2
2 benign chronic pemphigus 30.2 ATP2A3 ATP2A2
3 keratosis 29.7 TGM1 KRT17 ATP2A2 ABCA12
4 ichthyosis 28.0 TGM1 NIPAL4 KRT17 CYP4F22 ALOX12B ABHD5
5 van den bosch syndrome 11.5
6 epidermodysplasia verruciformis 1 11.2
7 erythrokeratoderma ''en cocardes'' 10.5
8 rare genetic skin disease 10.4
9 acute erythroid leukemia 10.1
10 atrial standstill 1 10.1
11 basal cell nevus syndrome 10.1
12 steatocystoma multiplex 10.1
13 acrodermatitis chronica atrophicans 10.1
14 dilated cardiomyopathy 10.1
15 basal cell carcinoma 10.1
16 papilloma 10.1
17 acrodermatitis 10.1
18 epidermolysis bullosa 10.1
19 pustulosis of palm and sole 10.1
20 vasculitis 10.1
21 psoriasis 10.1
22 pemphigus 10.1
23 lichen planus 10.1
24 helix syndrome 10.0
25 plasmacytoma 10.0
26 b-cell lymphoma 10.0
27 atrophic muscular disease 10.0 ATP2A3 ATP2A2
28 brody myopathy 10.0 ATP2A3 ATP2A2
29 osteogenic sarcoma 9.9
30 diffuse large b-cell lymphoma 9.9
31 lymphoma 9.9
32 thymus lymphoma 9.9
33 juxtacortical osteosarcoma 9.9
34 splenomegaly 9.9
35 histiocytic sarcoma 9.9
36 chanarin-dorfman syndrome 9.8 CYP4F22 ABHD5
37 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.7 NIPAL4 ALOX12B ABCA12
38 ichthyosis, congenital, autosomal recessive 4a 9.7 TGM1 ABCA12
39 monilethrix 9.6 TGM1 KRT17
40 erythrokeratodermia variabilis et progressiva 1 9.5 TGM1 NIPAL4 ABCA12
41 x-linked chondrodysplasia punctata 2 9.5 TGM1 ALOX12B ABCA12
42 epidermolytic hyperkeratosis 9.3 TGM1 NIPAL4 KRT17 ABCA12
43 skin disease 9.1 TGM1 KRT17 ATP2A2 ALOX12B ABCA12
44 ichthyosis, congenital, autosomal recessive 7 9.1 TGM1 NIPAL4 CYP4F22 ALOX12B ABCA12
45 ichthyosis, congenital, autosomal recessive 1 9.1 TGM1 NIPAL4 CYP4F22 ALOX12B ABCA12
46 ectropion 9.1 TGM1 NIPAL4 CYP4F22 ALOX12B ABCA12
47 ichthyosis, x-linked 9.1 TGM1 NIPAL4 CYP4F22 ALOX12B ABCA12
48 eyelid disease 9.1 TGM1 NIPAL4 CYP4F22 ALOX12B ABCA12
49 ichthyosis vulgaris 9.1 TGM1 NIPAL4 CYP4F22 ALOX12B ABCA12
50 ichthyosis, congenital, autosomal recessive 4b 8.8 TGM1 NIPAL4 CYP4F22 ALOX12B ABHD5 ABCA12

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:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 58 31 Very frequent (99-80%) HP:0000962
2 epidermal acanthosis 58 31 Very frequent (99-80%) HP:0025092
3 acrokeratosis 31 HP:0200016
4 verrucae 58 Frequent (79-30%)
5 ridged nail 31 HP:0001807
6 nail dystrophy 58 Very frequent (99-80%)
7 acantholysis 58 Excluded (0%)
8 anonychia 58 Occasional (29-5%)
9 leukonychia 58 Frequent (79-30%)
10 skin plaque 58 Frequent (79-30%)
11 parakeratosis 58 Excluded (0%)
12 skin-colored papule 58 Very frequent (99-80%)
13 hypergranulosis 58 Very frequent (99-80%)
14 punctate palmoplantar hyperkeratosis 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Acrokeratosis Verruciformis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.56 ABCA12 ABHD5 ALOX12B ATP2A2 CYP4F22 KRT17
2 mortality/aging MP:0010768 9.23 ABCA12 ABHD5 ALOX12B ATP2A2 CYP4F22 KRT17

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, Thymus

Publications for Acrokeratosis Verruciformis

Articles related to Acrokeratosis Verruciformis:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease. 6 57 54 61
12542527 2003
2
A sporadic patient with acrokeratosis verruciformis of Hopf and a novel ATP2A2 mutation. 61 6
20518781 2010
3
Acrokeratosis verruciformis (Hopf) report of 14 cases in one family in four generations, with a review of the literature. 57 61
20251558 1947
4
Guttate leukoderma and acrokeratosis verruciformis of Hopf: a rare combination in Darier disease. 61
32155025 2020
5
Late-onset non-familial acrokeratosis verruciformis of Hopf: a case report. 61
31696902 2019
6
Dermoscopy of acrokeratosis verruciformis of Hopf. 61
28711099 2017
7
Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease. 61
28498512 2017
8
Brief Report: HPV-17 Infection in Darier Disease With Acrokeratosis Verrucosis of Hopf. 61
28426487 2017
9
Acrokeratosis verruciformis of Hopf exhibiting Darier disease-like cytological features. 61
27663152 2016
10
Acrokeratosis verruciformis of Hopf - Case report. 61
27828639 2016
11
Whole-exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis verruciformis. 61
25622760 2016
12
Acrokeratosis Verruciformis of Hopf Clinically Mimicking Epidermodysplasia Verruciformis. 61
27057054 2016
13
Nonfamilial acrokeratosis verruciformis of Hopf. 61
25821733 2015
14
Acrokeratosis verruciformis of Hopf in family. 61
25506556 2014
15
Acrokeratosis verruciformis of hopf along lines of blaschko. 61
24082200 2013
16
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
17
Acrokeratosis verruciformis. 61
23286802 2012
18
Acrokeratosis verruciformis of Hopf showing P602L mutation in ATP2A2 and overlapping histopathological features with Darier disease. 61
22814319 2012
19
Non-familial Acrokeratosis Verruciformis of Hopf. 61
22028575 2011
20
Longitudinal erythronychia: individual or multiple linear red bands of the nail plate: a review of clinical features and associated conditions. 61
21668031 2011
21
Acrokeratosis verruciformis of hopf associated with dilated cardiomyopathy. 61
20161869 2009
22
Acitretin treatment in acrokeratosis verruciformis of Hopf. 61
17520472 2007
23
Genetic heterogeneity in acrokeratosis verruciformis of Hopf. 61
16716163 2006
24
Acrokeratosis verruciformis of Hopf (Hopf disease): case report and review of the literature. 61
16150218 2005
25
Darier's disease in Singapore. 61
15727640 2005
26
Acrokeratosis Verruciformis of Hopf: a localized variant. 61
15624756 2004
27
Coexistence of Darier's disease and acrokeratosis verruciformis of Hopf. 61
15515213 2004
28
Unusual association between acrokeratosis verruciformis of Hopf and multiple keratoacanthomas. Successful therapy with acitretin. 61
16281601 2004
29
Cowden syndrome - Report of two cases. 61
20885038 1999
30
Unilateral Darier's disease. 61
20944368 1997
31
[Acrokeratosis verruciformis-like changes in Darier disease]. 61
9378638 1997
32
Hailey-Hailey disease with acrokeratosis verruciformis Hopf. 61
8740277 1996
33
Acrokeratosis verruciformis of Hopf. 61
20953022 1995
34
Persistent flat-topped papules on the extremities. Acrokeratosis verruciformis (AKV) of Hopf. 61
8166491 1994
35
The phenotype of Darier's disease: penetrance and expressivity in adults and children. 61
1390140 1992
36
Nevoid basal cell carcinoma syndrome and acrokeratosis verruciformis. Occurrence of two rare inherited autosomal dominant conditions in the same patient. 61
2340927 1990
37
Specific dermatoglyphic patterns: a characteristic manifestation of acantholytic dyskeratotic dermatoses. 61
2808831 1989
38
[Hopf's acrokeratosis verruciformis or acral Darier's disease]. 61
3239922 1988
39
[Lectin staining of disorders of keratinization. I. Ichthyosis, Darier's disease and acrokeratosis verruciformis]. 61
2459572 1988
40
[Hopf's acrokeratosis verruciformis. Communication of a non-familial case]. 61
3323700 1987
41
[Hopf's acrokeratosis verruciformis]. 61
3765814 1986
42
The cutaneous pathology of extrafacial lesions in Cowden's disease. 61
6512063 1984
43
Histopathologic varieties of epidermal nevus. A study of 160 cases. 61
7048967 1982
44
Multiple keratoacanthomas associated with steatocystoma multiplex and rheumatoid arthritis. A case report. 61
7406520 1980
45
[Coexistence of acrokeratosis verruciformis with epidermolysis bullosa]. 61
7244464 1980
46
Darier's Disease. 61
28266454 1978
47
[Association of verruciform acrokeratosis with congenital poikiloderma as a dermatologic entity]. 61
658575 1978
48
Acrokeratosis verruciformis: (Hopf)--A clinical entity? 61
871401 1977
49
[Problem of concomitant occurrence of Hopf's acrokeratosis verruciformis and Darrier's disease]. 61
4442135 1974
50
Acrokeratosis verruciformis of Hopf. 61
5039112 1972

Variations for Acrokeratosis Verruciformis

ClinVar genetic disease variations for Acrokeratosis Verruciformis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP2A2 NM_170665.4(ATP2A2):c.1805C>T (p.Pro602Leu) SNV Pathogenic 17799 rs121912737 GRCh37: 12:110778507-110778507
GRCh38: 12:110340702-110340702
2 ATP2A2 NM_170665.4(ATP2A2):c.2093C>T (p.Ala698Val) SNV Pathogenic 29610 rs387906594 GRCh37: 12:110778795-110778795
GRCh38: 12:110340990-110340990
3 ATP2A2 NM_170665.4(ATP2A2):c.1552G>T (p.Glu518Ter) SNV Pathogenic 1029363 GRCh37: 12:110777317-110777317
GRCh38: 12:110339512-110339512
4 ATP2A2 NM_170665.4(ATP2A2):c.688A>G (p.Thr230Ala) SNV Uncertain significance 930659 GRCh37: 12:110765415-110765415
GRCh38: 12:110327610-110327610
5 ATP2A2 NM_170665.4(ATP2A2):c.136+21_136+22del Deletion Uncertain significance 931158 GRCh37: 12:110720446-110720447
GRCh38: 12:110282641-110282642

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

72
# 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 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 keratinocyte differentiation GO:0030216 9.43 TGM1 ABCA12
2 keratinization GO:0031424 9.43 TGM1 KRT17 ABCA12
3 regulation of cardiac conduction GO:1903779 9.4 ATP2A3 ATP2A2
4 lipid homeostasis GO:0055088 9.37 ABHD5 ABCA12
5 ceramide biosynthetic process GO:0046513 9.32 CYP4F22 ALOX12B
6 establishment of skin barrier GO:0061436 9.16 ALOX12B ABCA12
7 negative regulation of receptor binding GO:1900121 8.96 ATP2A3 ATP2A2
8 calcium ion transport from cytosol to endoplasmic reticulum GO:1903515 8.62 ATP2A3 ATP2A2

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

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.33 ATP2A3 ATP2A2 ABCA12
2 calcium-transporting ATPase activity GO:0005388 8.96 ATP2A3 ATP2A2
3 proton-exporting ATPase activity, phosphorylative mechanism GO:0008553 8.62 ATP2A3 ATP2A2

Sources for Acrokeratosis Verruciformis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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