Dowling-Degos Disease 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Dowling-Degos Disease 4

MalaCards integrated aliases for Dowling-Degos Disease 4:

Name: Dowling-Degos Disease 4 ⁵⁷ ⁷³ ²⁸ ⁵ ⁷¹

Ddd4 ⁵⁷ ⁷³

Disease, Dowling-Degos, Type 4 ³⁸

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
age of onset varies between 18 years and 53 years

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 615696

OMIM Phenotypic Series ⁵⁷ PS179850

MeSH ⁴³ D017444 D017495

MedGen ⁴⁰ C3810313 CN185282

UMLS ⁷¹ C3810313

Sources

Summaries for Dowling-Degos Disease 4

UniProtKB/Swiss-Prot: ⁷³ A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas.

MalaCards based summary: Dowling-Degos Disease 4, is also known as ddd4. An important gene associated with Dowling-Degos Disease 4 is POGLUT1 (Protein O-Glucosyltransferase 1). Affiliated tissues include skin, and related phenotypes are epidermal acanthosis and hypergranulosis

More information from OMIM: 615696 PS179850

Sources

Related Diseases for Dowling-Degos Disease 4

Diseases in the Dowling-Degos Disease family:

Dowling-Degos Disease 1	Dowling-Degos Disease 2
Dowling-Degos Disease 3	Dowling-Degos Disease 4

Sources

Symptoms & Phenotypes for Dowling-Degos Disease 4

Human phenotypes related to Dowling-Degos Disease 4:

³⁰

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	epidermal acanthosis ³⁰			HP:0025092
2	hypergranulosis ³⁰			HP:0025114

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Skin Nails Hair Skin Histology:
acanthosis, mild
digitiform acanthosis of the rete ridges
pronounced hyperpigmentation at tips of rete ridges
small horn cysts
hypergranulosis, focal

Skin Nails Hair Skin:
brownish macular and lentiginous lesions, disseminated, present on extremities, trunk, and neck

Clinical features from OMIM®:

615696 (Updated 08-Dec-2022)

Sources

Drugs & Therapeutics for Dowling-Degos Disease 4

Search Clinical Trials, NIH Clinical Center for Dowling-Degos Disease 4

Sources

Genetic Tests for Dowling-Degos Disease 4

Genetic tests related to Dowling-Degos Disease 4:

#	Genetic test	Affiliating Genes
1	Dowling-Degos Disease 4 ²⁸	POGLUT1

Sources

Anatomical Context for Dowling-Degos Disease 4

Organs/tissues related to Dowling-Degos Disease 4:

MalaCards : Skin

ODiseA: Skin

Sources

Publications for Dowling-Degos Disease 4

Articles related to Dowling-Degos Disease 4:

#	Title	Authors	PMID	Year
1	Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. ⁵⁷ ⁵	Basmanav FB...Betz RC	24387993	2014
2	[Galli-Galli disease. Clinical and histopathological investigation using a case series of 18 patients]. ⁵⁷ ⁵	Hanneken S...Kruse R	21971768	2011
3	Generalized solar lentigines in a patient with a history of radon exposure. ⁵⁷ ⁵	Mauerer A...Hafner C	20664185	2010
4	Structure, function, and pathology of protein O-glucosyltransferases. ⁶²	Mehboob MZ...Lang M	33436558	2021
5	Sequencing of 3-O sulfate containing heparin decasaccharides with a partial antithrombin III binding site. ⁶²	Shriver Z...Sasisekharan R	10984531	2000

Sources

Genes for Dowling-Degos Disease 4

Genes related to Dowling-Degos Disease 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	POGLUT1	Protein O-Glucosyltransferase 1	Protein Coding	1318.08	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ GeneCards inferred via : Disorders Summaries (show sections)	20664185 21971768 24387993

Sources

Variations for Dowling-Degos Disease 4

ClinVar genetic disease variations for Dowling-Degos Disease 4:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	POGLUT1	NM_152305.3(POGLUT1):c.11G>A (p.Trp4Ter)	SNV	Pathogenic	126528	rs587777293	GRCh37: 3:119187879-119187879 GRCh38: 3:119469032-119469032
2	POGLUT1	NM_152305.3(POGLUT1):c.798-2A>C	SNV	Pathogenic	126530	rs587777295	GRCh37: 3:119209396-119209396 GRCh38: 3:119490549-119490549
3	POGLUT1	NM_152305.3(POGLUT1):c.835dup (p.Arg279fs)	DUP	Pathogenic	126531	rs587777296	GRCh37: 3:119209433-119209434 GRCh38: 3:119490586-119490587
4	POGLUT1	NM_152305.3(POGLUT1):c.835C>T (p.Arg279Trp)	SNV	Pathogenic	126532	rs587777297	GRCh37: 3:119209435-119209435 GRCh38: 3:119490588-119490588
5	POGLUT1	NM_152305.3(POGLUT1):c.652C>T (p.Arg218Ter)	SNV	Pathogenic	126529	rs587777294	GRCh37: 3:119205693-119205693 GRCh38: 3:119486846-119486846
6	POGLUT1	NM_152305.3(POGLUT1):c.456+39G>T	SNV	Benign	1235843		GRCh37: 3:119196334-119196334 GRCh38: 3:119477487-119477487
7	POGLUT1	NM_152305.3(POGLUT1):c.457-25G>A	SNV	Benign	1251162		GRCh37: 3:119198873-119198873 GRCh38: 3:119480026-119480026

UniProtKB/Swiss-Prot genetic disease variations for Dowling-Degos Disease 4:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	POGLUT1	p.Gly170Glu	VAR_077954	rs1454300079
2	POGLUT1	p.Cys286Tyr	VAR_077957

Sources

Expression for Dowling-Degos Disease 4

Search GEO for disease gene expression data for Dowling-Degos Disease 4.

Sources

Pathways for Dowling-Degos Disease 4

Sources

GO Terms for Dowling-Degos Disease 4

Sources

Sources for Dowling-Degos Disease 4

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

DDD4 MCID: DWL004 MIFTS: 21	Dowling-Degos Disease 4 (DDD4) Categories: Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Dowling-Degos Disease 4 (DDD4)

Aliases & Classifications for Dowling-Degos Disease 4

MalaCards integrated aliases for Dowling-Degos Disease 4:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Dowling-Degos Disease 4

Related Diseases for Dowling-Degos Disease 4

Diseases in the Dowling-Degos Disease family:

Symptoms & Phenotypes for Dowling-Degos Disease 4

Human phenotypes related to Dowling-Degos Disease 4:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Dowling-Degos Disease 4

Genetic Tests for Dowling-Degos Disease 4

Genetic tests related to Dowling-Degos Disease 4:

Anatomical Context for Dowling-Degos Disease 4

Organs/tissues related to Dowling-Degos Disease 4:

Publications for Dowling-Degos Disease 4

Articles related to Dowling-Degos Disease 4:

Genes for Dowling-Degos Disease 4

Genes related to Dowling-Degos Disease 4 (1 elite genes):

Variations for Dowling-Degos Disease 4

ClinVar genetic disease variations for Dowling-Degos Disease 4:

UniProtKB/Swiss-Prot genetic disease variations for Dowling-Degos Disease 4:

Expression for Dowling-Degos Disease 4

Pathways for Dowling-Degos Disease 4

GO Terms for Dowling-Degos Disease 4

Sources for Dowling-Degos Disease 4