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 ⁷⁵ ²⁹ ⁶ ⁴⁰ ⁷³

Ddd4 ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

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

HPO:

³²

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

MedGen ⁴² C3810313 CN185282

MeSH ⁴⁴ D017444 D017495

SNOMED-CT via HPO ⁶⁹ 263681008

UMLS ⁷³ C3810313

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Summaries for Dowling-Degos Disease 4

UniProtKB/Swiss-Prot : ⁷⁵ 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). Affiliated tissues include skin, and related phenotype is epidermal acanthosis.

Description from OMIM: 615696

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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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

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

Clinical features from OMIM:

615696

Human phenotypes related to Dowling-Degos Disease 4:

³²

#	Description	HPO Frequency	HPO Source Accession
1	epidermal acanthosis ³²		HP:0025092

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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

MalaCards organs/tissues related to Dowling-Degos Disease 4:

⁴¹

Skin

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Publications for Dowling-Degos Disease 4

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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	PubmedIds
1	POGLUT1	Protein O-Glucosyltransferase 1	Protein Coding	1339.37	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	21971768 24387993 21458412

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Variations for Dowling-Degos Disease 4

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

⁷⁵

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

ClinVar genetic disease variations for Dowling-Degos Disease 4:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	POGLUT1	NM_152305.2(POGLUT1): c.11G> A (p.Trp4Ter)	single nucleotide variant	Pathogenic	rs587777293	GRCh37	Chromosome 3, 119187879: 119187879
2	POGLUT1	NM_152305.2(POGLUT1): c.11G> A (p.Trp4Ter)	single nucleotide variant	Pathogenic	rs587777293	GRCh38	Chromosome 3, 119469032: 119469032
3	POGLUT1	NM_152305.2(POGLUT1): c.652C> T (p.Arg218Ter)	single nucleotide variant	Pathogenic	rs587777294	GRCh37	Chromosome 3, 119205693: 119205693
4	POGLUT1	NM_152305.2(POGLUT1): c.652C> T (p.Arg218Ter)	single nucleotide variant	Pathogenic	rs587777294	GRCh38	Chromosome 3, 119486846: 119486846
5	POGLUT1	NM_152305.2(POGLUT1): c.798-2A> C	single nucleotide variant	Pathogenic	rs587777295	GRCh37	Chromosome 3, 119209396: 119209396
6	POGLUT1	NM_152305.2(POGLUT1): c.798-2A> C	single nucleotide variant	Pathogenic	rs587777295	GRCh38	Chromosome 3, 119490549: 119490549
7	POGLUT1	NM_152305.2(POGLUT1): c.835dupC (p.Arg279Profs)	duplication	Pathogenic	rs587777296	GRCh37	Chromosome 3, 119209435: 119209435
8	POGLUT1	NM_152305.2(POGLUT1): c.835dupC (p.Arg279Profs)	duplication	Pathogenic	rs587777296	GRCh38	Chromosome 3, 119490588: 119490588
9	POGLUT1	NM_152305.2(POGLUT1): c.835C> T (p.Arg279Trp)	single nucleotide variant	Pathogenic	rs587777297	GRCh37	Chromosome 3, 119209435: 119209435
10	POGLUT1	NM_152305.2(POGLUT1): c.835C> T (p.Arg279Trp)	single nucleotide variant	Pathogenic	rs587777297	GRCh38	Chromosome 3, 119490588: 119490588

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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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