MCID: ACR111
MIFTS: 18

Acrokeratoderma, Hereditary Papulotranslucent

Categories: Skin diseases

Aliases & Classifications for Acrokeratoderma, Hereditary Papulotranslucent

MalaCards integrated aliases for Acrokeratoderma, Hereditary Papulotranslucent:

Name: Acrokeratoderma, Hereditary Papulotranslucent 57 44 72
Hereditary Papulotranslucent Acrokeratoderma 12 15 17

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
acrokeratoderma, hereditary papulotranslucent:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060360
OMIM 57 101840
MeSH 44 C566323
MedGen 42 C1863343
UMLS 72 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)). Affiliated tissues include skin, 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

Symptoms & Phenotypes for Acrokeratoderma, Hereditary Papulotranslucent

Human phenotypes related to Acrokeratoderma, Hereditary Papulotranslucent:

32
# Description HPO Frequency HPO Source Accession
1 papule 32 HP:0200034
2 fine hair 32 HP:0002213
3 skin plaque 32 HP:0200035
4 allergy 32 HP:0012393

Symptoms via clinical synopsis from OMIM:

57
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

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:

41
Skin

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? 38 8
4716729 1973
2
Aberrant expression of aquaporin-3 in hereditary papulotranslucent acrokeratoderma and aquagenic palmoplantar keratoderma. 38
29724688 2018
3
Hereditary papulotranslucent acrokeratoderma: a simultaneous presentation in daughter and mother. 38
23760344 2013
4
Hereditary papulotranslucent acrokeratoderma. 38
18627739 2008
5
Acquired aquagenic papulotranslucent acrokeratoderma: report of two cases. 38
18572977 2008
6
Hereditary papulotranslucent acrokeratoderma: a case report and literature review. 38
16409913 2005
7
Transient reactive papulotranslucent acrokeratoderma associated with cystic fibrosis. 38
10954989 2000
8
Hereditary papulotranslucent acrokeratoderma. 38
9640547 1998
9
Hereditary papulotranslucent acrokeratoderma. 38
9466078 1998
10
Marginal papular acrokeratodermas: a unified nosography for focal acral hyperkeratosis, acrokeratoelastoidosis and related disorders. 38
8305752 1994
11
[Hereditary papulotranslucent acrokeratoderma]. 38
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

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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