MCID: DWL003
MIFTS: 17

Dowling-Degos Disease 2

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

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:



External Ids:

OMIM 57 615327
UMLS 73 C3809147

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.

Related Diseases for Dowling-Degos Disease 2

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

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 29 POFUT1

Anatomical Context for Dowling-Degos Disease 2

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

41
Skin

Publications for Dowling-Degos Disease 2

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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