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 ⁵⁶ ⁴³ ⁷¹

Hereditary Papulotranslucent Acrokeratoderma ¹² ¹⁵ ¹⁷

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

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 ⁵⁶ 101840

MeSH ⁴³ C566323

MedGen ⁴¹ C1863343

SNOMED-CT via HPO ⁶⁸ 128177006 247546006 25694009 more

EFO ¹⁷ EFO_1000708

UMLS ⁷¹ 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)), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and IL-17 Family Signaling Pathways. Affiliated tissues include skin and kidney, 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	Top Affiliating Genes
1	acrokeratoderma	10.7
2	keratosis	10.4
3	palmoplantar keratosis	10.4
4	erythrokeratoderma ''en cocardes''	10.4
5	autosomal dominant polycystic kidney disease	9.4	CFTR AQP3
6	constipation	9.3	PTGS2 AQP3

Graphical network of the top 20 diseases related to Acrokeratoderma, Hereditary Papulotranslucent:

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Symptoms & Phenotypes for Acrokeratoderma, Hereditary Papulotranslucent

Human phenotypes related to Acrokeratoderma, Hereditary Papulotranslucent:

³¹

#	Description	HPO Source Accession
1	papule ³¹	HP:0200034
2	fine hair ³¹	HP:0002213
3	skin plaque ³¹	HP:0200035
4	allergy ³¹	HP:0012393

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

MGI Mouse Phenotypes related to Acrokeratoderma, Hereditary Papulotranslucent:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	digestive/alimentary	MP:0005381	9.33	AQP3 CFTR PTGS2
2	respiratory system	MP:0005388	9.13	AQP3 CFTR PTGS2
3	vision/eye	MP:0005391	8.8	AQP3 CFTR PTGS2

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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:

⁴⁰

Skin, Kidney

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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? ⁶¹ ⁵⁶	Onwukwe MF...Toda K	4716729	1973
2	Aberrant expression of aquaporin-3 in hereditary papulotranslucent acrokeratoderma and aquagenic palmoplantar keratoderma. ⁶¹	Gironi LC...Savoia P	29724688	2018
3	Hereditary papulotranslucent acrokeratoderma: a simultaneous presentation in daughter and mother. ⁶¹	Sun Y...Jia H	23760344	2013
4	Hereditary papulotranslucent acrokeratoderma. ⁶¹	Rizzo C...Soter NA	18627739	2008
5	Acquired aquagenic papulotranslucent acrokeratoderma: report of two cases. ⁶¹	Polat M...Alli N	18572977	2008
6	Hereditary papulotranslucent acrokeratoderma: a case report and literature review. ⁶¹	Sracic JK...Hsu S	16409913	2005
7	Transient reactive papulotranslucent acrokeratoderma associated with cystic fibrosis. ⁶¹	Lowes MA...Holt D	10954989	2000
8	Hereditary papulotranslucent acrokeratoderma. ⁶¹	English JC...McCollough ML	9640547	1998
9	Hereditary papulotranslucent acrokeratoderma. ⁶¹	Heymann WR	9466078	1998
10	Marginal papular acrokeratodermas: a unified nosography for focal acral hyperkeratosis, acrokeratoelastoidosis and related disorders. ⁶¹	Rongioletti F...Rebora A	8305752	1994
11	[Hereditary papulotranslucent acrokeratoderma]. ⁶¹	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
1	AQP3	Aquaporin 3 (Gill Blood Group)	Protein Coding	6.86	DISEASES inferred ¹⁵
2	PTGS2	Prostaglandin-Endoperoxide Synthase 2	Protein Coding	5.22	DISEASES inferred ¹⁵
3	CFTR	CF Transmembrane Conductance Regulator	Protein Coding	4.08	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

Pathways related to Acrokeratoderma, Hereditary Papulotranslucent according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶³ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶³ Cholera Infection ⁶³	11.75	PTGS2 CFTR
2	IL-17 Family Signaling Pathways ⁶⁴ Show member pathways IL17 signaling pathway ¹ IL-17 signaling pathway ³⁶ Interleukin-17 signaling ⁶⁵ Mucin expression in CF via IL-6, IL-17 signaling pathways ²²	11.29	PTGS2 CFTR
3	IL-1 Family Signaling Pathways ⁶⁴ Show member pathways Immune response IL-1 signaling pathway ²² Mucin expression in CF via TLRs, EGFR signaling pathways ²²	10.87	PTGS2 CFTR

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GO Terms for Acrokeratoderma, Hereditary Papulotranslucent

Biological processes related to Acrokeratoderma, Hereditary Papulotranslucent according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular response to hypoxia	GO:0071456	8.96	PTGS2 AQP3
2	response to vitamin D	GO:0033280	8.62	PTGS2 AQP3

Molecular functions related to Acrokeratoderma, Hereditary Papulotranslucent according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	enzyme binding	GO:0019899	8.62	PTGS2 CFTR

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Sources for Acrokeratoderma, Hereditary Papulotranslucent

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²⁴ GeneReviews

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⁵⁶ OMIM

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⁶⁹ TGDB

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia