MCID: ACR111
MIFTS: 31

Acrokeratoderma, Hereditary Papulotranslucent

Categories: Skin diseases
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Aliases & Classifications for Acrokeratoderma, Hereditary Papulotranslucent

MalaCards integrated aliases for Acrokeratoderma, Hereditary Papulotranslucent:

Name: Acrokeratoderma, Hereditary Papulotranslucent 57 43 71
Hereditary Papulotranslucent Acrokeratoderma 11 14 16

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0060360
OMIM® 57 101840
MeSH 43 C566323
MedGen 40 C1863343
UMLS 71 C1863343

Summaries for Acrokeratoderma, Hereditary Papulotranslucent

Disease Ontology: 11 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 palmoplantar keratosis and skin disease. An important gene associated with Acrokeratoderma, Hereditary Papulotranslucent is AQP3 (Aquaporin 3 (Gill Blood Group)), and among its related pathways/superpathways are 22q11.2 copy number variation syndrome and Integrin signaling. Affiliated tissues include skin, and related phenotypes are fine hair and papule

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:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratosis 30.3 KRT9 KRT1 GJB2
2 skin disease 29.2 VIP PTGS2 NLRP3 KRT9 KRT1 GJB2
3 acrokeratoderma 10.8
4 aquagenic syringeal acrokeratoderma 10.3
5 erythrokeratoderma ''en cocardes'' 10.3
6 epidermolytic acanthoma 10.2 KRT9 KRT1
7 palmoplantar keratoderma, nonepidermolytic, focal 1 10.1 KRT9 KRT1
8 fetal and neonatal alloimmune thrombocytopenia 10.1 GP1BB GP1BA
9 skin papilloma 10.1 PTGS2 KRT1
10 autosomal dominant macrothrombocytopenia 10.1 GP1BB GP1BA
11 acquired thrombocytopenia 10.1 GP1BB GP1BA
12 thrombasthenia 10.1 GP9 GP1BA
13 knuckle pads 10.1 KRT9 GJB2
14 palmoplantar keratoderma, epidermolytic 10.1 KRT9 KRT1
15 coronary thrombosis 10.0 PTGS2 GP1BA
16 epidermolysis bullosa dystrophica 10.0 KRT9 KRT1
17 thrombocytopenia due to platelet alloimmunization 10.0 GP9 GP1BA
18 nephrogenic diabetes insipidus 10.0 CFTR AQP5 AQP3
19 palmoplantar keratoderma, nonepidermolytic 10.0 KRT9 KRT1 AQP5
20 myh-9 related disease 10.0 GP9 GP1BB GP1BA
21 pseudo-von willebrand disease 10.0 GP9 GP1BB GP1BA
22 secretory diarrhea 10.0 VIP CFTR
23 von willebrand's disease 10.0 GP9 GP1BB GP1BA
24 intussusception 10.0 VIP CFTR
25 jacobsen syndrome 10.0 GP9 GP1BB GP1BA
26 glanzmann thrombasthenia 1 10.0 GP9 GP1BB GP1BA
27 hemophilia b 9.9 GP9 GP1BB GP1BA
28 blood coagulation disease 9.9 GP9 GP1BB GP1BA
29 bernard-soulier syndrome 9.9 GP9 GP1BB GP1BA
30 blood platelet disease 9.9 GP9 GP1BB GP1BA
31 keratosis 9.9 KRT9 KRT1 GJB2
32 pharyngitis 9.7 PTGS2 NLRP3
33 sebaceous gland disease 9.7 PRL NLRP3
34 headache 9.7 PTGS2 PRL
35 cystic fibrosis 9.4 VIP PTGS2 NLRP3 CFTR AQP3
36 migraine with or without aura 1 9.4 VIP PTGS2 PRL
37 asthma 9.3 VIP PTGS2 NLRP3 CFTR AQP5
38 nervous system disease 9.0 VIP PTGS2 PRL NLRP3 GJB2

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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fine hair 30 HP:0002213
2 papule 30 HP:0200034
3 skin plaque 30 HP:0200035
4 allergy 30 HP:0012393

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Acrokeratoderma, Hereditary Papulotranslucent:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 AQP3 AQP5 CFTR GJB2 GP1BA GP1BB
2 immune system MP:0005387 9.61 AQP3 CFTR GJB2 GP9 KRT1 NLRP3
3 integument MP:0010771 9.17 CFTR GJB2 KRT1 KRT9 NLRP3 PRL

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

Organs/tissues related to Acrokeratoderma, Hereditary Papulotranslucent:

MalaCards : Skin

Publications for Acrokeratoderma, Hereditary Papulotranslucent

Articles related to Acrokeratoderma, Hereditary Papulotranslucent:

(show all 12)
# Title Authors PMID Year
1
Hereditary papulotranslucent acrokeratoderma. A new variant of familial punctate keratoderma? 62 57
4716729 1973
2
Hereditary Papulotranslucent Acrokeratoderma: Prominent Clinical Presentation after Water Exposure. 62
33911696 2019
3
Aberrant expression of aquaporin-3 in hereditary papulotranslucent acrokeratoderma and aquagenic palmoplantar keratoderma. 62
29724688 2018
4
Hereditary papulotranslucent acrokeratoderma: a simultaneous presentation in daughter and mother. 62
23760344 2013
5
Hereditary papulotranslucent acrokeratoderma. 62
18627739 2008
6
Acquired aquagenic papulotranslucent acrokeratoderma: report of two cases. 62
18572977 2008
7
Hereditary papulotranslucent acrokeratoderma: a case report and literature review. 62
16409913 2005
8
Transient reactive papulotranslucent acrokeratoderma associated with cystic fibrosis. 62
10954989 2000
9
Hereditary papulotranslucent acrokeratoderma. 62
9640547 1998
10
Hereditary papulotranslucent acrokeratoderma. 62
9466078 1998
11
Marginal papular acrokeratodermas: a unified nosography for focal acral hyperkeratosis, acrokeratoelastoidosis and related disorders. 62
8305752 1994
12
[Hereditary papulotranslucent acrokeratoderma]. 62
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

GO Terms for Acrokeratoderma, Hereditary Papulotranslucent

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.91 GP9 GP1BB GP1BA GJB2 CFTR AQP5
2 plasma membrane GO:0005887 9.91 GP9 GP1BB GP1BA GJB2 CFTR AQP5
3 glycoprotein Ib-IX-V complex GO:1990779 9.1 GP9 GP1BB GP1BA

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

# Name GO ID Score Top Affiliating Genes
1 release of sequestered calcium ion into cytosol GO:0051209 9.8 GP1BA GP1BB GP9
2 blood coagulation GO:0007596 9.77 GP9 GP1BB GP1BA
3 water transport GO:0006833 9.76 AQP5 AQP3
4 fibrinolysis GO:0042730 9.73 KRT1 GP1BA
5 response to vitamin D GO:0033280 9.71 PTGS2 AQP3
6 megakaryocyte development GO:0035855 9.63 GP9 GP1BB GP1BA
7 hemostasis GO:0007599 9.43 GP9 GP1BB GP1BA
8 positive regulation of platelet activation GO:0010572 9.43 GP9 GP1BB GP1BA
9 blood coagulation, intrinsic pathway GO:0007597 9.1 GP9 GP1BB GP1BA

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

# Name GO ID Score Top Affiliating Genes
1 channel activity GO:0015267 8.96 AQP5 AQP3
2 water channel activity GO:0015250 8.92 AQP5 AQP3

Sources for Acrokeratoderma, Hereditary Papulotranslucent

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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