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 ⁴³ ⁷¹

Hereditary Papulotranslucent Acrokeratoderma ¹¹ ¹⁴ ¹⁶

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

Classifications:

MalaCards categories:
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0060360

OMIM® ⁵⁷ 101840

MeSH ⁴³ C566323

MedGen ⁴⁰ C1863343

SNOMED-CT via HPO ⁶⁹ 128177006 247546006 25694009 more

EFO ¹⁶ EFO_1000708

UMLS ⁷¹ C1863343

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Summaries for Acrokeratoderma, Hereditary Papulotranslucent

Disease Ontology: ¹¹ 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 and skin disease. An important gene associated with Acrokeratoderma, Hereditary Papulotranslucent is AQP3 (Aquaporin 3 (Gill Blood Group)), and among its related pathways/superpathways are 22q11.2 copy number variation syndrome and Integrin signaling. Affiliated tissues include skin, and related phenotypes are fine hair and papule

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:

(show all 38)

#	Related Disease	Score	Top Affiliating Genes
1	palmoplantar keratosis	30.3	KRT9 KRT1 GJB2
2	skin disease	29.2	VIP PTGS2 NLRP3 KRT9 KRT1 GJB2
3	acrokeratoderma	10.8
4	aquagenic syringeal acrokeratoderma	10.3
5	erythrokeratoderma ''en cocardes''	10.3
6	epidermolytic acanthoma	10.2	KRT9 KRT1
7	palmoplantar keratoderma, nonepidermolytic, focal 1	10.1	KRT9 KRT1
8	fetal and neonatal alloimmune thrombocytopenia	10.1	GP1BB GP1BA
9	skin papilloma	10.1	PTGS2 KRT1
10	autosomal dominant macrothrombocytopenia	10.1	GP1BB GP1BA
11	acquired thrombocytopenia	10.1	GP1BB GP1BA
12	thrombasthenia	10.1	GP9 GP1BA
13	knuckle pads	10.1	KRT9 GJB2
14	palmoplantar keratoderma, epidermolytic	10.1	KRT9 KRT1
15	coronary thrombosis	10.0	PTGS2 GP1BA
16	epidermolysis bullosa dystrophica	10.0	KRT9 KRT1
17	thrombocytopenia due to platelet alloimmunization	10.0	GP9 GP1BA
18	nephrogenic diabetes insipidus	10.0	CFTR AQP5 AQP3
19	palmoplantar keratoderma, nonepidermolytic	10.0	KRT9 KRT1 AQP5
20	myh-9 related disease	10.0	GP9 GP1BB GP1BA
21	pseudo-von willebrand disease	10.0	GP9 GP1BB GP1BA
22	secretory diarrhea	10.0	VIP CFTR
23	von willebrand's disease	10.0	GP9 GP1BB GP1BA
24	intussusception	10.0	VIP CFTR
25	jacobsen syndrome	10.0	GP9 GP1BB GP1BA
26	glanzmann thrombasthenia 1	10.0	GP9 GP1BB GP1BA
27	hemophilia b	9.9	GP9 GP1BB GP1BA
28	blood coagulation disease	9.9	GP9 GP1BB GP1BA
29	bernard-soulier syndrome	9.9	GP9 GP1BB GP1BA
30	blood platelet disease	9.9	GP9 GP1BB GP1BA
31	keratosis	9.9	KRT9 KRT1 GJB2
32	pharyngitis	9.7	PTGS2 NLRP3
33	sebaceous gland disease	9.7	PRL NLRP3
34	headache	9.7	PTGS2 PRL
35	cystic fibrosis	9.4	VIP PTGS2 NLRP3 CFTR AQP3
36	migraine with or without aura 1	9.4	VIP PTGS2 PRL
37	asthma	9.3	VIP PTGS2 NLRP3 CFTR AQP5
38	nervous system disease	9.0	VIP PTGS2 PRL NLRP3 GJB2

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:

³⁰

#	Description	HPO Source Accession
1	fine hair ³⁰	HP:0002213
2	papule ³⁰	HP:0200034
3	skin plaque ³⁰	HP:0200035
4	allergy ³⁰	HP:0012393

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Acrokeratoderma, Hereditary Papulotranslucent:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	9.93	AQP3 AQP5 CFTR GJB2 GP1BA GP1BB
2	immune system	MP:0005387	9.61	AQP3 CFTR GJB2 GP9 KRT1 NLRP3
3	integument	MP:0010771	9.17	CFTR GJB2 KRT1 KRT9 NLRP3 PRL

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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

Organs/tissues related to Acrokeratoderma, Hereditary Papulotranslucent:

MalaCards : Skin

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Publications for Acrokeratoderma, Hereditary Papulotranslucent

Articles related to Acrokeratoderma, Hereditary Papulotranslucent:

(show all 12)

#	Title	Authors	PMID	Year
1	Hereditary papulotranslucent acrokeratoderma. A new variant of familial punctate keratoderma? ⁶² ⁵⁷	Onwukwe MF...Toda K	4716729	1973
2	Hereditary Papulotranslucent Acrokeratoderma: Prominent Clinical Presentation after Water Exposure. ⁶²	Kim BJ...Oh SH	33911696	2019
3	Aberrant expression of aquaporin-3 in hereditary papulotranslucent acrokeratoderma and aquagenic palmoplantar keratoderma. ⁶²	Gironi LC...Savoia P	29724688	2018
4	Hereditary papulotranslucent acrokeratoderma: a simultaneous presentation in daughter and mother. ⁶²	Sun Y...Jia H	23760344	2013
5	Hereditary papulotranslucent acrokeratoderma. ⁶²	Rizzo C...Soter NA	18627739	2008
6	Acquired aquagenic papulotranslucent acrokeratoderma: report of two cases. ⁶²	Polat M...Alli N	18572977	2008
7	Hereditary papulotranslucent acrokeratoderma: a case report and literature review. ⁶²	Sracic JK...Hsu S	16409913	2005
8	Transient reactive papulotranslucent acrokeratoderma associated with cystic fibrosis. ⁶²	Lowes MA...Holt D	10954989	2000
9	Hereditary papulotranslucent acrokeratoderma. ⁶²	English JC...McCollough ML	9640547	1998
10	Hereditary papulotranslucent acrokeratoderma. ⁶²	Heymann WR	9466078	1998
11	Marginal papular acrokeratodermas: a unified nosography for focal acral hyperkeratosis, acrokeratoelastoidosis and related disorders. ⁶²	Rongioletti F...Rebora A	8305752	1994
12	[Hereditary papulotranslucent acrokeratoderma]. ⁶²	Koster W...Nasemann T	3157274	1985

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Genes for Acrokeratoderma, Hereditary Papulotranslucent

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

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	AQP3	Aquaporin 3 (Gill Blood Group)	Protein Coding	5.91	DISEASES inferred ¹⁴
2	KRT9	Keratin 9	Protein Coding	4.92	DISEASES inferred ¹⁴
3	GP1BB	Glycoprotein Ib Platelet Subunit Beta	Protein Coding	4.88	DISEASES inferred ¹⁴
4	PTGS2	Prostaglandin-Endoperoxide Synthase 2	Protein Coding	4.78	DISEASES inferred ¹⁴
5	CFTR	CF Transmembrane Conductance Regulator	Protein Coding	4.64	DISEASES inferred ¹⁴
6	GP9	Glycoprotein IX Platelet	Protein Coding	4.58	DISEASES inferred ¹⁴
7	KRT1	Keratin 1	Protein Coding	4.24	DISEASES inferred ¹⁴
8	AQP5	Aquaporin 5	Protein Coding	4.16	DISEASES inferred ¹⁴
9	GP1BA	Glycoprotein Ib Platelet Subunit Alpha	Protein Coding	3.97	DISEASES inferred ¹⁴
10	GJB2	Gap Junction Protein Beta 2	Protein Coding	3.8	DISEASES inferred ¹⁴
11	VIP	Vasoactive Intestinal Peptide	Protein Coding	3.58	DISEASES inferred ¹⁴
12	PRL	Prolactin	Protein Coding	2.97	DISEASES inferred ¹⁴
13	NLRP3	NLR Family Pyrin Domain Containing 3	Protein Coding	2.8	DISEASES inferred ¹⁴

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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	22q11.2 copy number variation syndrome ⁷⁴	11.45	GP9 GP1BB GP1BA
2	Integrin signaling ⁶⁶ Show member pathways GRB2:SOS provides linkage to MAPK signaling for Integrins ⁶⁶ p130Cas linkage to MAPK signaling for integrins ⁶⁶ Platelet Aggregation (Plug Formation) ⁶⁶	11.11	GP9 GP1BB GP1BA
3	Stabilization and expansion of the E-cadherin adherens junction ⁶¹	10.94	AQP5 AQP3
4	Mammary gland development pathway - Pregnancy and lactation (Stage 3 of 4) ⁷⁴	10.76	PRL GJB2
5	Platelet Adhesion to exposed collagen ⁶⁶ Show member pathways GP1b-IX-V activation signalling ⁶⁶	10.23	GP9 GP1BB GP1BA

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GO Terms for Acrokeratoderma, Hereditary Papulotranslucent

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

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	9.91	GP9 GP1BB GP1BA GJB2 CFTR AQP5
2	plasma membrane	GO:0005887	9.91	GP9 GP1BB GP1BA GJB2 CFTR AQP5
3	glycoprotein Ib-IX-V complex	GO:1990779	9.1	GP9 GP1BB GP1BA

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

#	Name	GO ID	Score	Top Affiliating Genes
1	release of sequestered calcium ion into cytosol	GO:0051209	9.8	GP1BA GP1BB GP9
2	blood coagulation	GO:0007596	9.77	GP9 GP1BB GP1BA
3	water transport	GO:0006833	9.76	AQP5 AQP3
4	fibrinolysis	GO:0042730	9.73	KRT1 GP1BA
5	response to vitamin D	GO:0033280	9.71	PTGS2 AQP3
6	megakaryocyte development	GO:0035855	9.63	GP9 GP1BB GP1BA
7	hemostasis	GO:0007599	9.43	GP9 GP1BB GP1BA
8	positive regulation of platelet activation	GO:0010572	9.43	GP9 GP1BB GP1BA
9	blood coagulation, intrinsic pathway	GO:0007597	9.1	GP9 GP1BB GP1BA

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

#	Name	GO ID	Score	Top Affiliating Genes
1	channel activity	GO:0015267	8.96	AQP5 AQP3
2	water channel activity	GO:0015250	8.92	AQP5 AQP3

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Sources for Acrokeratoderma, Hereditary Papulotranslucent

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: ACR111 MIFTS: 31	Acrokeratoderma, Hereditary Papulotranslucent Categories: Skin diseases	Data Licensing For inquiries, contact: [email protected]
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