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 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:

MalaCards categories:
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060360

OMIM ⁵⁷ 101840

MeSH ⁴⁴ C566323

MedGen ⁴² C1863343

EFO ¹⁷ EFO_1000708

UMLS ⁷² 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 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

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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
1	acrokeratoderma	10.7
2	keratosis	10.4
3	palmoplantar keratosis	10.4
4	erythrokeratoderma ''en cocardes''	10.4

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Symptoms & Phenotypes for Acrokeratoderma, Hereditary Papulotranslucent

Human phenotypes related to Acrokeratoderma, Hereditary Papulotranslucent:

³²

#	Description	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

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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:

⁴¹

Skin

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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	Onwukwe MF...Toda K	4716729	1973
2	Aberrant expression of aquaporin-3 in hereditary papulotranslucent acrokeratoderma and aquagenic palmoplantar keratoderma. ³⁸	Gironi LC...Savoia P	29724688	2018
3	Hereditary papulotranslucent acrokeratoderma: a simultaneous presentation in daughter and mother. ³⁸	Sun Y...Jia H	23760344	2013
4	Hereditary papulotranslucent acrokeratoderma. ³⁸	Rizzo C...Soter NA	18627739	2008
5	Acquired aquagenic papulotranslucent acrokeratoderma: report of two cases. ³⁸	Polat M...Alli N	18572977	2008
6	Hereditary papulotranslucent acrokeratoderma: a case report and literature review. ³⁸	Sracic JK...Hsu S	16409913	2005
7	Transient reactive papulotranslucent acrokeratoderma associated with cystic fibrosis. ³⁸	Lowes MA...Holt D	10954989	2000
8	Hereditary papulotranslucent acrokeratoderma. ³⁸	English JC...McCollough ML	9640547	1998
9	Hereditary papulotranslucent acrokeratoderma. ³⁸	Heymann WR	9466078	1998
10	Marginal papular acrokeratodermas: a unified nosography for focal acral hyperkeratosis, acrokeratoelastoidosis and related disorders. ³⁸	Rongioletti F...Rebora A	8305752	1994
11	[Hereditary papulotranslucent acrokeratoderma]. ³⁸	Koster W...Nasemann T	3157274	1985

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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	16.54	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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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵² NIH Clinical Center

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⁵⁵ Novoseek

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⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

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⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia