MCID: ACR111
MIFTS: 17

Acrokeratoderma, Hereditary Papulotranslucent

Categories: Skin diseases

Aliases & Classifications for Acrokeratoderma, Hereditary Papulotranslucent

MalaCards integrated aliases for Acrokeratoderma, Hereditary Papulotranslucent:

Name: Acrokeratoderma, Hereditary Papulotranslucent 58 45 74
Hereditary Papulotranslucent Acrokeratoderma 12 15 17

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
acrokeratoderma, hereditary papulotranslucent:
Inheritance autosomal dominant inheritance


Classifications:



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 palmoplantar keratosis. An important gene associated with Acrokeratoderma, Hereditary Papulotranslucent is AQP3 (Aquaporin 3 (Gill Blood Group)). Affiliated tissues include skin, and related phenotypes are fine hair and papule

Description 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 palmoplantar keratosis 10.4

Symptoms & Phenotypes for Acrokeratoderma, Hereditary Papulotranslucent

Human phenotypes related to Acrokeratoderma, Hereditary Papulotranslucent:

33
# Description HPO Frequency HPO Source Accession
1 fine hair 33 HP:0002213
2 papule 33 HP:0200034
3 skin plaque 33 HP:0200035
4 allergy 33 HP:0012393

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skin

Publications for Acrokeratoderma, Hereditary Papulotranslucent

Articles related to Acrokeratoderma, Hereditary Papulotranslucent:

# Title Authors Year
1
Aberrant expression of aquaporin-3 in hereditary papulotranslucent acrokeratoderma and aquagenic palmoplantar keratoderma. ( 29724688 )
2018
2
Hereditary papulotranslucent acrokeratoderma: a simultaneous presentation in daughter and mother. ( 23760344 )
2013
3
Hereditary papulotranslucent acrokeratoderma. ( 18627739 )
2008
4
Hereditary papulotranslucent acrokeratoderma: a case report and literature review. ( 16409913 )
2005
5
Hereditary papulotranslucent acrokeratoderma. ( 9640547 )
1998
6
Hereditary papulotranslucent acrokeratoderma. ( 9466078 )
1998
7
Hereditary papulotranslucent acrokeratoderma. A new variant of familial punctate keratoderma? ( 4716729 )
1973

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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