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

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Aliases & Classifications for Dowling-Degos Disease 4

MalaCards integrated aliases for Dowling-Degos Disease 4:

Name: Dowling-Degos Disease 4 ⁵⁷ ⁷² ²⁹ ⁶ ⁷⁰

Ddd4 ⁵⁷ ⁷²

Disease, Dowling-Degos, Type 4 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal dominant

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

HPO:

³¹

dowling-degos disease 4:
Inheritance autosomal dominant inheritance

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 ⁴⁴ D017444 D017495

MedGen ⁴¹ C3810313 CN185282

SNOMED-CT via HPO ⁶⁸ 263681008

UMLS ⁷⁰ C3810313

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Summaries for Dowling-Degos Disease 4

UniProtKB/Swiss-Prot : ⁷² Dowling-Degos disease 4: 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). Related phenotypes are epidermal acanthosis and hypergranulosis

More information from OMIM: 615696 PS179850

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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

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Symptoms & Phenotypes for Dowling-Degos Disease 4

Human phenotypes related to Dowling-Degos Disease 4:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	epidermal acanthosis ³¹		HP:0025092
2	hypergranulosis ³¹		HP:0025114

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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 05-Apr-2021)

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Drugs & Therapeutics for Dowling-Degos Disease 4

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

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Genetic Tests for Dowling-Degos Disease 4

Genetic tests related to Dowling-Degos Disease 4:

#	Genetic test	Affiliating Genes
1	Dowling-Degos Disease 4 ²⁹	POGLUT1

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Anatomical Context for Dowling-Degos Disease 4

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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 ⁶	Basmanav FB...Betz RC	24387993	2014
2	[Galli-Galli disease. Clinical and histopathological investigation using a case series of 18 patients]. ⁶ ⁵⁷	Hanneken S...Kruse R	21971768	2011
3	Generalized solar lentigines in a patient with a history of radon exposure. ⁶ ⁵⁷	Mauerer A...Hafner C	20664185	2010
4	Structure, function, and pathology of protein O-glucosyltransferases. ⁶¹	Mehboob MZ...Lang M	33436558	2021
5	Sequencing of 3-O sulfate containing heparin decasaccharides with a partial antithrombin III binding site. ⁶¹	Shriver Z...Sasisekharan R	10984531	2000

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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	1328.3	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	21971768 24387993

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Variations for Dowling-Degos Disease 4

ClinVar genetic disease variations for Dowling-Degos Disease 4:

⁶

#	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.652C>T (p.Arg218Ter)	SNV	Pathogenic	126529	rs587777294	GRCh37: 3:119205693-119205693 GRCh38: 3:119486846-119486846
3	POGLUT1	NM_152305.3(POGLUT1):c.798-2A>C	SNV	Pathogenic	126530	rs587777295	GRCh37: 3:119209396-119209396 GRCh38: 3:119490549-119490549
4	POGLUT1	NM_152305.3(POGLUT1):c.835dup (p.Arg279fs)	Duplication	Pathogenic	126531	rs587777296	GRCh37: 3:119209433-119209434 GRCh38: 3:119490586-119490587
5	POGLUT1	NM_152305.3(POGLUT1):c.835C>T (p.Arg279Trp)	SNV	Pathogenic	126532	rs587777297	GRCh37: 3:119209435-119209435 GRCh38: 3:119490588-119490588
6	POGLUT1	NM_152305.3(POGLUT1):c.394C>T (p.Arg132Ter)	SNV	Pathogenic	1029190		GRCh37: 3:119196233-119196233 GRCh38: 3:119477386-119477386

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

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	POGLUT1	p.Gly170Glu	VAR_077954	rs145430007
2	POGLUT1	p.Cys286Tyr	VAR_077957

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Expression for Dowling-Degos Disease 4

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

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Pathways for Dowling-Degos Disease 4

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GO Terms for Dowling-Degos Disease 4

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Sources for Dowling-Degos Disease 4

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⁵⁷ OMIM® (Updated 05-Apr-2021)

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⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Dowling-Degos Disease 4 (DDD4)

Aliases & Classifications for Dowling-Degos Disease 4

MalaCards integrated aliases for Dowling-Degos Disease 4:

Characteristics:

OMIM®:

HPO:

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

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