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 57 44 73
Hereditary Papulotranslucent Acrokeratoderma 12 15

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
acrokeratoderma, hereditary papulotranslucent:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 101840
Disease Ontology 12 DOID:0060360
MeSH 44 C566323
MedGen 42 C1863343
UMLS 73 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, is also known as hereditary papulotranslucent acrokeratoderma. 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 allergy

Description from OMIM: 101840

Related Diseases for Acrokeratoderma, Hereditary Papulotranslucent

Symptoms & Phenotypes for Acrokeratoderma, Hereditary Papulotranslucent

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

Human phenotypes related to Acrokeratoderma, Hereditary Papulotranslucent:

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

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:

# Title Authors Year
1
Hereditary papulotranslucent acrokeratoderma: a simultaneous presentation in daughter and mother. ( 23760344 )
2013
2
Hereditary papulotranslucent acrokeratoderma. ( 18627739 )
2008
3
Hereditary papulotranslucent acrokeratoderma: a case report and literature review. ( 16409913 )
2005
4
Hereditary papulotranslucent acrokeratoderma. ( 9640547 )
1998
5
Hereditary papulotranslucent acrokeratoderma. ( 9466078 )
1998
6
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 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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