DDD2
MCID: DWL003
MIFTS: 23

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 57 74 29 6 40 72
Ddd2 57 74

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:

UMLS 72 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 hyperkeratotic papule and follicular hyperkeratosis

UniProtKB/Swiss-Prot : 74 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:

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

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

GenomeRNAi Phenotypes related to Dowling-Degos Disease 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 8.62 PLAGL2 POFUT1

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

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. 8 71
23684010 2013
2
The spectrum of reticulate pigment disorders of the skin revisited. 8
23018017 2012
3
Appraisal of gene action for indeterminate growth in mungbean [Vigna radiata (L.) Wilczek]. 38
26388879 2015
4
Comparison of collisional radiative models for edge electron density reconstruction from Li I (2s-2p) emission profiles. 38
23126851 2012

Variations for Dowling-Degos Disease 2

ClinVar genetic disease variations for Dowling-Degos Disease 2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 POFUT1 NM_015352.2(POFUT1): c.430G> T (p.Glu144Ter) single nucleotide variant Pathogenic rs398123038 20:30804412-30804412 20:32216609-32216609
2 POFUT1 NM_015352.2(POFUT1): c.482del (p.Lys161fs) deletion Pathogenic rs886041033 20:30804464-30804464 20:32216661-32216661
3 POFUT1 NM_015352.2(POFUT1): c.289C> T (p.Gln97Ter) single nucleotide variant Pathogenic 20:30803114-30803114 20:32215311-32215311
4 POFUT1 NM_015352.2(POFUT1): c.90C> G (p.Asp30Glu) single nucleotide variant Uncertain significance 20:30795834-30795834 20:32208031-32208031
5 POFUT1 NM_015352.2(POFUT1): c.1155G> A (p.Arg385=) single nucleotide variant Likely benign rs780991231 20:30822452-30822452 20:32234649-32234649
6 POFUT1 NM_015352.2(POFUT1): c.588A> G (p.Pro196=) single nucleotide variant Benign rs6579005 20:30816111-30816111 20:32228308-32228308
7 POFUT1 NM_015352.2(POFUT1): c.964C> T (p.Leu322Phe) single nucleotide variant Benign rs17268666 20:30818850-30818850 20:32231047-32231047

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....