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 ⁷³ ²⁹ ⁶ ³⁹ ⁷¹

Ddd2 ⁵⁷ ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

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

HPO:

³¹

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

OMIM Phenotypic Series ⁵⁷ PS179850

MeSH ⁴⁴ D017444 D017495

MedGen ⁴¹ C3809147 CN178067

SNOMED-CT via HPO ⁶⁸ 238629004 263681008 402341008 more

UMLS ⁷¹ 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) (Updated 05-Mar-2021)

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 hyperkeratotic papule and follicular hyperkeratosis

UniProtKB/Swiss-Prot : ⁷³ 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

Human phenotypes related to Dowling-Degos Disease 2:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	hyperkeratotic papule ³¹	occasional (7.5%)	HP:0045059
2	follicular hyperkeratosis ³¹		HP:0007502
3	reticular hyperpigmentation ³¹		HP:0007588
4	hypomelanotic macule ³¹		HP:0009719

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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 (Updated 05-Mar-2021)

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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:

⁴⁰

Skin

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Publications for Dowling-Degos Disease 2

Articles related to Dowling-Degos Disease 2:

#	Title	Authors	PMID	Year
1	Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. ⁶ ⁵⁷	Li M...Yao Z	23684010	2013
2	The spectrum of reticulate pigment disorders of the skin revisited. ⁵⁷	Muller CS...Vogt T	23018017	2012
3	Appraisal of gene action for indeterminate growth in mungbean [Vigna radiata (L.) Wilczek]. ⁶¹	Iqbal J...Ali A	26388879	2015
4	Comparison of collisional radiative models for edge electron density reconstruction from Li I (2s-2p) emission profiles. ⁶¹	Stoschus H...Schweinzer J	23126851	2012

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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	PubMed IDs
1	POFUT1	Protein O-Fucosyltransferase 1	Protein Coding	1018.31	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 (show all 12)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	POFUT1	NM_015352.2(POFUT1):c.430G>T (p.Glu144Ter)	SNV	Pathogenic	56808	rs398123038	20:30804412-30804412	20:32216609-32216609
2	POFUT1	NM_015352.2(POFUT1):c.482del (p.Lys161fs)	Deletion	Pathogenic	56809	rs886041033	20:30804463-30804463	20:32216660-32216660
3	POFUT1	NM_015352.2(POFUT1):c.289C>T (p.Gln97Ter)	SNV	Pathogenic	574378	rs1569152303	20:30803114-30803114	20:32215311-32215311
4	POFUT1	NM_015352.2(POFUT1):c.90C>G (p.Asp30Glu)	SNV	Uncertain significance	570946	rs368413950	20:30795834-30795834	20:32208031-32208031
5	POFUT1	NM_015352.2(POFUT1):c.637G>C (p.Val213Leu)	SNV	Uncertain significance	940614		20:30816160-30816160	20:32228357-32228357
6	POFUT1	NM_015352.2(POFUT1):c.1155G>A (p.Arg385=)	SNV	Likely benign	541310	rs780991231	20:30822452-30822452	20:32234649-32234649
7	POFUT1	NM_015352.2(POFUT1):c.900G>A (p.Ser300=)	SNV	Benign	710154	rs78861748	20:30818786-30818786	20:32230983-32230983
8	POFUT1	NM_015352.2(POFUT1):c.751A>G (p.Met251Val)	SNV	Benign	719060	rs79984831	20:30818637-30818637	20:32230834-32230834
9	POFUT1	NM_015352.2(POFUT1):c.937G>A (p.Glu313Lys)	SNV	Benign	774965	rs35968884	20:30818823-30818823	20:32231020-32231020
10	POFUT1	NM_015352.2(POFUT1):c.1158C>T (p.Asp386=)	SNV	Benign	778880	rs7263390	20:30822455-30822455	20:32234652-32234652
11	POFUT1	NM_015352.2(POFUT1):c.588A>G (p.Pro196=)	SNV	Benign	474295	rs6579005	20:30816111-30816111	20:32228308-32228308
12	POFUT1	NM_015352.2(POFUT1):c.964C>T (p.Leu322Phe)	SNV	Benign	474296	rs17268666	20:30818850-30818850	20:32231047-32231047

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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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⁷¹ UMLS

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⁷⁴ Wikipedia

Dowling-Degos Disease 2 (DDD2)

Aliases & Classifications for Dowling-Degos Disease 2

MalaCards integrated aliases for Dowling-Degos Disease 2:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Dowling-Degos Disease 2

Related Diseases for Dowling-Degos Disease 2

Diseases in the Dowling-Degos Disease family:

Symptoms & Phenotypes for Dowling-Degos Disease 2

Human phenotypes related to Dowling-Degos Disease 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Dowling-Degos Disease 2

Genetic Tests for Dowling-Degos Disease 2

Genetic tests related to Dowling-Degos Disease 2:

Anatomical Context for Dowling-Degos Disease 2

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

Publications for Dowling-Degos Disease 2

Articles related to Dowling-Degos Disease 2:

Genes for Dowling-Degos Disease 2

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

Variations for Dowling-Degos Disease 2

ClinVar genetic disease variations for Dowling-Degos Disease 2:

Expression for Dowling-Degos Disease 2

Pathways for Dowling-Degos Disease 2

GO Terms for Dowling-Degos Disease 2

Sources for Dowling-Degos Disease 2