DDD2
MCID: DWL003
MIFTS: 17

Dowling-Degos Disease 2 (DDD2)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Dowling-Degos Disease 2

MalaCards integrated aliases for Dowling-Degos Disease 2:

Name: Dowling-Degos Disease 2 58 76 30 6 41 74
Ddd2 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
dowling-degos disease 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 615327
UMLS 74 C3809147

Summaries for Dowling-Degos Disease 2

OMIM : 58 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 hyperkeratotic papule and follicular hyperkeratosis

UniProtKB/Swiss-Prot : 76 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.

Related Diseases for Dowling-Degos Disease 2

Symptoms & Phenotypes for Dowling-Degos Disease 2

Human phenotypes related to Dowling-Degos Disease 2:

33
# Description HPO Frequency HPO Source Accession
1 hyperkeratotic papule 33 occasional (7.5%) HP:0045059
2 follicular hyperkeratosis 33 HP:0007502
3 reticular hyperpigmentation 33 HP:0007588
4 hypomelanotic macule 33 HP:0009719

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Dowling-Degos Disease 2

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

Genetic Tests for Dowling-Degos Disease 2

Genetic tests related to Dowling-Degos Disease 2:

# Genetic test Affiliating Genes
1 Dowling-Degos Disease 2 30 POFUT1

Anatomical Context for Dowling-Degos Disease 2

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

42
Skin

Publications for Dowling-Degos Disease 2

Articles related to Dowling-Degos Disease 2:

# Title Authors Year
1
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. ( 23684010 )
2013

Variations for Dowling-Degos Disease 2

ClinVar genetic disease variations for Dowling-Degos Disease 2:

6 (show all 14)
# 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 GRCh37 Chromosome 20, 30818850: 30818850
8 POFUT1 NM_015352.1(POFUT1): c.964C> T (p.Leu322Phe) single nucleotide variant Benign rs17268666 GRCh38 Chromosome 20, 32231047: 32231047
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
11 POFUT1 NM_015352.1(POFUT1): c.289C> T (p.Gln97Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 30803114: 30803114
12 POFUT1 NM_015352.1(POFUT1): c.289C> T (p.Gln97Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 32215311: 32215311
13 POFUT1 NM_015352.1(POFUT1): c.90C> G (p.Asp30Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 32208031: 32208031
14 POFUT1 NM_015352.1(POFUT1): c.90C> G (p.Asp30Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 30795834: 30795834

Expression for Dowling-Degos Disease 2

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

Pathways for Dowling-Degos Disease 2

GO Terms for Dowling-Degos Disease 2

Sources for Dowling-Degos Disease 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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