AKV
MCID: ACR004
MIFTS: 29

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 75 37 13 55 15 40
Acrokeratosis Verruciformis of Hopf 12 59 29 6 73
Hopf Disease 57 12 75
Akv 57 75
Akv of Hopf 59

Characteristics:

Orphanet epidemiological data:

59
acrokeratosis verruciformis of hopf
Inheritance: Autosomal dominant; Age of onset: Adult,Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
hyperkeratosis often present at birth but may appear later


HPO:

32
acrokeratosis verruciformis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 101900
Disease Ontology 12 DOID:0050606
Orphanet 59 ORPHA79151
UMLS via Orphanet 74 C0265971
ICD10 via Orphanet 34 Q82.8
MedGen 42 C0265971
MeSH 44 D007642
KEGG 37 H00755
UMLS 73 C0265971

Summaries for Acrokeratosis Verruciformis

UniProtKB/Swiss-Prot : 75 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 van den bosch syndrome and epidermodysplasia verruciformis. An important gene associated with Acrokeratosis Verruciformis is ATP2A2 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2), and among its related pathways/superpathways is Calcium signaling pathway. Affiliated tissues include skin and b cells, and related phenotypes are hyperkeratosis and ridged nail

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)

Wikipedia : 76 Acrokeratosis verruciformis (also known as "Acrokeratosis verruciformis of Hopf" is a rare autosomal... more...

Related Diseases for Acrokeratosis Verruciformis

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

# Related Disease Score Top Affiliating Genes
1 van den bosch syndrome 12.0
2 epidermodysplasia verruciformis 11.7
3 benign chronic pemphigus 10.1
4 steatocystoma multiplex 10.1
5 basal cell carcinoma 1 10.1
6 dilated cardiomyopathy 10.1
7 basal cell carcinoma 10.1
8 lichen planus 10.1
9 b-cell lymphomas 10.1
10 leukemia 10.1

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



Diseases related to Acrokeratosis Verruciformis

Symptoms & Phenotypes for Acrokeratosis Verruciformis

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Acrokeratosis Verruciformis:

32
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 32 HP:0000962
2 ridged nail 32 HP:0001807
3 acrokeratosis 32 HP:0200016
4 epidermal acanthosis 32 HP:0025092

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:

41
Skin, B Cells

Publications for Acrokeratosis Verruciformis

Articles related to Acrokeratosis Verruciformis:

(show all 39)
# Title Authors Year
1
Dermoscopy of acrokeratosis verruciformis of Hopf. ( 28711099 )
2017
2
Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease. ( 28498512 )
2017
3
Acrokeratosis verruciformis of Hopf - Case report. ( 27828639 )
2016
4
Acrokeratosis verruciformis of Hopf exhibiting Darier disease-like cytological features. ( 27663152 )
2016
5
Acrokeratosis Verruciformis of Hopf Clinically Mimicking Epidermodysplasia Verruciformis. ( 27057054 )
2016
6
Nonfamilial acrokeratosis verruciformis of Hopf. ( 25821733 )
2015
7
Whole-exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis verruciformis. ( 25622760 )
2015
8
Acrokeratosis verruciformis of Hopf in family. ( 25506556 )
2014
9
Acrokeratosis verruciformis of hopf along lines of blaschko. ( 24082200 )
2013
10
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. ( 23289714 )
2013
11
Acrokeratosis verruciformis of Hopf showing P602L mutation in ATP2A2 and overlapping histopathological features with Darier disease. ( 22814319 )
2012
12
Acrokeratosis verruciformis. ( 23286802 )
2012
13
Non-familial Acrokeratosis Verruciformis of Hopf. ( 22028575 )
2011
14
A sporadic patient with acrokeratosis verruciformis of Hopf and a novel ATP2A2 mutation. ( 20518781 )
2010
15
Acrokeratosis verruciformis of hopf associated with dilated cardiomyopathy. ( 20161869 )
2009
16
Acitretin treatment in acrokeratosis verruciformis of Hopf. ( 17520472 )
2007
17
Genetic heterogeneity in acrokeratosis verruciformis of Hopf. ( 16716163 )
2006
18
Acrokeratosis verruciformis of Hopf (Hopf disease): case report and review of the literature. ( 16150218 )
2005
19
Unusual association between acrokeratosis verruciformis of Hopf and multiple keratoacanthomas. Successful therapy with acitretin. ( 16281601 )
2004
20
Acrokeratosis Verruciformis of Hopf: a localized variant. ( 15624756 )
2004
21
Coexistence of Darier's disease and acrokeratosis verruciformis of Hopf. ( 15515213 )
2004
22
Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease. ( 12542527 )
2003
23
Hailey-Hailey disease with acrokeratosis verruciformis Hopf. ( 8740277 )
1996
24
Acrokeratosis verruciformis of Hopf. ( 20953022 )
1995
25
Persistent flat-topped papules on the extremities. Acrokeratosis verruciformis (AKV) of Hopf. ( 8166491 )
1994
26
Nevoid basal cell carcinoma syndrome and acrokeratosis verruciformis. Occurrence of two rare inherited autosomal dominant conditions in the same patient. ( 2340927 )
1990
27
Acrokeratosis verruciformis: (Hopf)--A clinical entity? ( 871401 )
1977
28
Acrokeratosis verruciformis of Hopf. ( 5039112 )
1972
29
Acrokeratosis verruciformis of Hopf with steatocystoma multiplex and hypertrophic lichen planus. ( 5060425 )
1972
30
Acrokeratosis verruciformis: malignant transformation. ( 5138952 )
1971
31
Darier's disease: acrokeratosis verruciformis of Hopf. Report of a case. ( 5885519 )
1965
32
Bullous dyskeratosis follicularis and acrokeratosis verruciformis. Report of a case. ( 11850920 )
1965
33
BULLOUS DYSKERATOSIS FOLLICULARIS AND ACROKERATOSIS VERRUCIFORMIS; REPORT OF A CASE. ( 14314742 )
1965
34
Acrokeratosis verruciformis (Hopf). A follow-up study. ( 13938495 )
1962
35
Acrokeratosis verruciformis. ( 13489135 )
1957
36
Note on the genetics of acrokeratosis verruciformis (Hopf). ( 17948395 )
1949
37
Acrokeratosis verruciformis (Hopf). ( 18207877 )
1948
38
Acrokeratosis verruciformis (Hopf). ( 20342125 )
1947
39
Acrokeratosis verruciformis (Hopf) report of 14 cases in one family in four generations, with a review of the literature. ( 20251558 )
1947

Variations for Acrokeratosis Verruciformis

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

75
# Symbol AA change Variation ID SNP ID
1 ATP2A2 p.Pro602Leu VAR_017532 rs121912737

ClinVar genetic disease variations for Acrokeratosis Verruciformis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP2A2 NM_001681.3(ATP2A2): c.1805C> T (p.Pro602Leu) single nucleotide variant Pathogenic rs121912737 GRCh37 Chromosome 12, 110778507: 110778507
2 ATP2A2 NM_001681.3(ATP2A2): c.1805C> T (p.Pro602Leu) single nucleotide variant Pathogenic rs121912737 GRCh38 Chromosome 12, 110340702: 110340702
3 ATP2A2 NM_001681.3(ATP2A2): c.2093C> T (p.Ala698Val) single nucleotide variant Pathogenic rs387906594 GRCh37 Chromosome 12, 110778795: 110778795
4 ATP2A2 NM_001681.3(ATP2A2): c.2093C> T (p.Ala698Val) single nucleotide variant Pathogenic rs387906594 GRCh38 Chromosome 12, 110340990: 110340990

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:

37
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020

GO Terms for Acrokeratosis Verruciformis

Sources for Acrokeratosis Verruciformis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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