Dowling-Degos Disease 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Dowling-Degos Disease 2

MalaCards integrated aliases for Dowling-Degos Disease 2:

Name: Dowling-Degos Disease 2 ⁵⁷ ⁷⁵ ²⁹ ⁶ ⁴⁰ ⁷³

Ddd2 ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
asymptomatic skin lesions begin on neck in third decade of life

HPO:

³²

dowling-degos disease 2:
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 615327

MedGen ⁴² C3809147 CN178067

MeSH ⁴⁴ D017444 D017495

SNOMED-CT via HPO ⁶⁹ 263681008 238629004 402341008 more

UMLS ⁷³ C3809147

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Summaries for Dowling-Degos Disease 2

OMIM : ⁵⁷ Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by Li et al., 2013). (615327)

MalaCards based summary : Dowling-Degos Disease 2, is also known as ddd2. An important gene associated with Dowling-Degos Disease 2 is POFUT1 (Protein O-Fucosyltransferase 1). Affiliated tissues include skin, and related phenotypes are follicular hyperkeratosis and reticular hyperpigmentation

UniProtKB/Swiss-Prot : ⁷⁵ Dowling-Degos disease 2: An autosomal dominant genodermatosis. Affected individuals develop a 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.

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Related Diseases for Dowling-Degos Disease 2

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 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skin Nails Hair Skin:
hyperpigmentation in a reticular pattern primarily on flexural skin
hypopigmentation in a reticular pattern primarily on flexural skin
hypopigmented macules on neck, chest, and back (in some patients)
hyperkeratotic papules, dark brown, on neck, chest, and back (in some patients)

Skin Nails Hair Skin Electron Microscopy:
small melanocytes
melanocytes lack melanosomes
normal keratin filaments

Skin Nails Hair Skin Histology:
hyperkeratosis with multiple horny follicular plugs
papillary epidermal downgrowth
abnormal basal pigment-granule distribution
sporadic melanin granules and melanophages in superficial layer of dermis

Clinical features from OMIM:

615327

Human phenotypes related to Dowling-Degos Disease 2:

³²

#	Description	HPO Frequency	HPO Source Accession
1	follicular hyperkeratosis ³²		HP:0007502
2	reticular hyperpigmentation ³²		HP:0007588
3	hypomelanotic macule ³²		HP:0009719
4	hyperkeratotic papule ³²	occasional (7.5%)	HP:0045059

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Drugs & Therapeutics for Dowling-Degos Disease 2

Search Clinical Trials , NIH Clinical Center for Dowling-Degos Disease 2

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Genetic Tests for Dowling-Degos Disease 2

Genetic tests related to Dowling-Degos Disease 2:

#	Genetic test	Affiliating Genes
1	Dowling-Degos Disease 2 ²⁹	POFUT1

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Anatomical Context for Dowling-Degos Disease 2

MalaCards organs/tissues related to Dowling-Degos Disease 2:

⁴¹

Skin

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Publications for Dowling-Degos Disease 2

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Genes for Dowling-Degos Disease 2

Genes related to Dowling-Degos Disease 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	POFUT1	Protein O-Fucosyltransferase 1	Protein Coding	1028.42	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23684010

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Variations for Dowling-Degos Disease 2

ClinVar genetic disease variations for Dowling-Degos Disease 2:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	POFUT1	NM_015352.1(POFUT1): c.430G> T (p.Glu144Ter)	single nucleotide variant	Pathogenic	rs398123038	GRCh37	Chromosome 20, 30804412: 30804412
2	POFUT1	NM_015352.1(POFUT1): c.430G> T (p.Glu144Ter)	single nucleotide variant	Pathogenic	rs398123038	GRCh38	Chromosome 20, 32216609: 32216609
3	POFUT1	NM_015352.1(POFUT1): c.482delA (p.Lys161Serfs)	deletion	Pathogenic	rs886041033	GRCh38	Chromosome 20, 32216661: 32216661
4	POFUT1	NM_015352.1(POFUT1): c.482delA (p.Lys161Serfs)	deletion	Pathogenic	rs886041033	GRCh37	Chromosome 20, 30804464: 30804464
5	POFUT1	NM_015352.1(POFUT1): c.588A> G (p.Pro196=)	single nucleotide variant	Benign	rs6579005	GRCh37	Chromosome 20, 30816111: 30816111
6	POFUT1	NM_015352.1(POFUT1): c.588A> G (p.Pro196=)	single nucleotide variant	Benign	rs6579005	GRCh38	Chromosome 20, 32228308: 32228308
7	POFUT1	NM_015352.1(POFUT1): c.964C> T (p.Leu322Phe)	single nucleotide variant	Benign	rs17268666	GRCh38	Chromosome 20, 32231047: 32231047
8	POFUT1	NM_015352.1(POFUT1): c.964C> T (p.Leu322Phe)	single nucleotide variant	Benign	rs17268666	GRCh37	Chromosome 20, 30818850: 30818850
9	POFUT1	NM_015352.1(POFUT1): c.1155G> A (p.Arg385=)	single nucleotide variant	Likely benign	rs780991231	GRCh37	Chromosome 20, 30822452: 30822452
10	POFUT1	NM_015352.1(POFUT1): c.1155G> A (p.Arg385=)	single nucleotide variant	Likely benign	rs780991231	GRCh38	Chromosome 20, 32234649: 32234649

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Expression for Dowling-Degos Disease 2

Search GEO for disease gene expression data for Dowling-Degos Disease 2.

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Pathways for Dowling-Degos Disease 2

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GO Terms for Dowling-Degos Disease 2

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Sources for Dowling-Degos Disease 2

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