MCID: ACR111
MIFTS: 26

Acrokeratoderma, Hereditary Papulotranslucent

Categories: Skin diseases

Aliases & Classifications for Acrokeratoderma, Hereditary Papulotranslucent

MalaCards integrated aliases for Acrokeratoderma, Hereditary Papulotranslucent:

Name: Acrokeratoderma, Hereditary Papulotranslucent 56 43 71
Hereditary Papulotranslucent Acrokeratoderma 12 15 17

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
acrokeratoderma, hereditary papulotranslucent:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060360
OMIM 56 101840
MeSH 43 C566323
MedGen 41 C1863343
UMLS 71 C1863343

Summaries for Acrokeratoderma, Hereditary Papulotranslucent

Disease Ontology : 12 A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.

MalaCards based summary : Acrokeratoderma, Hereditary Papulotranslucent, also known as hereditary papulotranslucent acrokeratoderma, is related to acrokeratoderma and keratosis. An important gene associated with Acrokeratoderma, Hereditary Papulotranslucent is AQP3 (Aquaporin 3 (Gill Blood Group)), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and IL-17 Family Signaling Pathways. Affiliated tissues include skin and kidney, and related phenotypes are papule and fine hair

More information from OMIM: 101840

Related Diseases for Acrokeratoderma, Hereditary Papulotranslucent

Diseases related to Acrokeratoderma, Hereditary Papulotranslucent via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acrokeratoderma 10.7
2 keratosis 10.4
3 palmoplantar keratosis 10.4
4 erythrokeratoderma ''en cocardes'' 10.4
5 autosomal dominant polycystic kidney disease 9.4 CFTR AQP3
6 constipation 9.3 PTGS2 AQP3

Graphical network of the top 20 diseases related to Acrokeratoderma, Hereditary Papulotranslucent:



Diseases related to Acrokeratoderma, Hereditary Papulotranslucent

Symptoms & Phenotypes for Acrokeratoderma, Hereditary Papulotranslucent

Human phenotypes related to Acrokeratoderma, Hereditary Papulotranslucent:

31
# Description HPO Frequency HPO Source Accession
1 papule 31 HP:0200034
2 fine hair 31 HP:0002213
3 skin plaque 31 HP:0200035
4 allergy 31 HP:0012393

Symptoms via clinical synopsis from OMIM:

56
Skin:
persistent, asymptomatic, yellowish-white, translucent papules and plaques of hands and feet

Immunology:
atopic diathesis

Hair:
fine-textured scalp hair

Lab:
skin lesions show orthohypergranulosis, acanthosis, and a relatively normal dermis

Clinical features from OMIM:

101840

MGI Mouse Phenotypes related to Acrokeratoderma, Hereditary Papulotranslucent:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.33 AQP3 CFTR PTGS2
2 respiratory system MP:0005388 9.13 AQP3 CFTR PTGS2
3 vision/eye MP:0005391 8.8 AQP3 CFTR PTGS2

Drugs & Therapeutics for Acrokeratoderma, Hereditary Papulotranslucent

Search Clinical Trials , NIH Clinical Center for Acrokeratoderma, Hereditary Papulotranslucent

Cochrane evidence based reviews: acrokeratoderma, hereditary papulotranslucent

Genetic Tests for Acrokeratoderma, Hereditary Papulotranslucent

Anatomical Context for Acrokeratoderma, Hereditary Papulotranslucent

MalaCards organs/tissues related to Acrokeratoderma, Hereditary Papulotranslucent:

40
Skin, Kidney

Publications for Acrokeratoderma, Hereditary Papulotranslucent

Articles related to Acrokeratoderma, Hereditary Papulotranslucent:

(show all 11)
# Title Authors PMID Year
1
Hereditary papulotranslucent acrokeratoderma. A new variant of familial punctate keratoderma? 61 56
4716729 1973
2
Aberrant expression of aquaporin-3 in hereditary papulotranslucent acrokeratoderma and aquagenic palmoplantar keratoderma. 61
29724688 2018
3
Hereditary papulotranslucent acrokeratoderma: a simultaneous presentation in daughter and mother. 61
23760344 2013
4
Hereditary papulotranslucent acrokeratoderma. 61
18627739 2008
5
Acquired aquagenic papulotranslucent acrokeratoderma: report of two cases. 61
18572977 2008
6
Hereditary papulotranslucent acrokeratoderma: a case report and literature review. 61
16409913 2005
7
Transient reactive papulotranslucent acrokeratoderma associated with cystic fibrosis. 61
10954989 2000
8
Hereditary papulotranslucent acrokeratoderma. 61
9640547 1998
9
Hereditary papulotranslucent acrokeratoderma. 61
9466078 1998
10
Marginal papular acrokeratodermas: a unified nosography for focal acral hyperkeratosis, acrokeratoelastoidosis and related disorders. 61
8305752 1994
11
[Hereditary papulotranslucent acrokeratoderma]. 61
3157274 1985

Variations for Acrokeratoderma, Hereditary Papulotranslucent

Expression for Acrokeratoderma, Hereditary Papulotranslucent

Search GEO for disease gene expression data for Acrokeratoderma, Hereditary Papulotranslucent.

Pathways for Acrokeratoderma, Hereditary Papulotranslucent

Pathways related to Acrokeratoderma, Hereditary Papulotranslucent according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 PTGS2 CFTR
2
Show member pathways
11.29 PTGS2 CFTR
3
Show member pathways
10.87 PTGS2 CFTR

GO Terms for Acrokeratoderma, Hereditary Papulotranslucent

Biological processes related to Acrokeratoderma, Hereditary Papulotranslucent according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to hypoxia GO:0071456 8.96 PTGS2 AQP3
2 response to vitamin D GO:0033280 8.62 PTGS2 AQP3

Molecular functions related to Acrokeratoderma, Hereditary Papulotranslucent according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 8.62 PTGS2 CFTR

Sources for Acrokeratoderma, Hereditary Papulotranslucent

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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