Acrokeratoderma, Hereditary Papulotranslucent disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060360

OMIM ⁵⁸ 101840

MeSH ⁴⁵ C566323

MedGen ⁴³ C1863343

SNOMED-CT via HPO ⁷⁰ 128177006 197432008 21719001 more

EFO ¹⁷ EFO_1000708

UMLS ⁷⁴ C1863343

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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

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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

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Symptoms & Phenotypes for Acrokeratoderma, Hereditary Papulotranslucent

Human phenotypes related to Acrokeratoderma, Hereditary Papulotranslucent:

³³

#	Description	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

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Drugs & Therapeutics for Acrokeratoderma, Hereditary Papulotranslucent

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

Cochrane evidence based reviews: acrokeratoderma, hereditary papulotranslucent

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Genetic Tests for Acrokeratoderma, Hereditary Papulotranslucent

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Anatomical Context for Acrokeratoderma, Hereditary Papulotranslucent

MalaCards organs/tissues related to Acrokeratoderma, Hereditary Papulotranslucent:

⁴²

Skin

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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 )	Gironi LC...Savoia P	2018
2	Hereditary papulotranslucent acrokeratoderma: a simultaneous presentation in daughter and mother. ( 23760344 )	Sun Y...Jia H	2013
3	Hereditary papulotranslucent acrokeratoderma. ( 18627739 )	Rizzo C...Soter NA	2008
4	Hereditary papulotranslucent acrokeratoderma: a case report and literature review. ( 16409913 )	Sracic JK...Hsu S	2005
5	Hereditary papulotranslucent acrokeratoderma. ( 9640547 )	English JC...McCollough ML	1998
6	Hereditary papulotranslucent acrokeratoderma. ( 9466078 )	Heymann WR	1998
7	Hereditary papulotranslucent acrokeratoderma. A new variant of familial punctate keratoderma? ( 4716729 )	Onwukwe MF...Toda K	1973

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Genes for Acrokeratoderma, Hereditary Papulotranslucent

Genes related to Acrokeratoderma, Hereditary Papulotranslucent (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AQP3	Aquaporin 3 (Gill Blood Group)	Protein Coding	16.57	DISEASES inferred ¹⁵

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Variations for Acrokeratoderma, Hereditary Papulotranslucent

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Expression for Acrokeratoderma, Hereditary Papulotranslucent

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

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Pathways for Acrokeratoderma, Hereditary Papulotranslucent

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GO Terms for Acrokeratoderma, Hereditary Papulotranslucent

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Sources for Acrokeratoderma, Hereditary Papulotranslucent

¹ BioSystems

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³⁴ ICD10

³⁵ ICD10 via Orphanet

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³⁷ IUPHAR

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³⁹ LifeMap

⁴⁰ LncRNADisease

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⁵⁶ Novoseek

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⁵⁸ OMIM

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⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia