DDD2
MCID: DWL003
MIFTS: 24

Dowling-Degos Disease 2 (DDD2)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Dowling-Degos Disease 2

MalaCards integrated aliases for Dowling-Degos Disease 2:

Name: Dowling-Degos Disease 2 57 73 28 5 38 71
Ddd2 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
asymptomatic skin lesions begin on neck in third decade of life


Classifications:



External Ids:

OMIM® 57 615327
OMIM Phenotypic Series 57 PS179850
SNOMED-CT via HPO 69 238629004 402341008 81845009
UMLS 71 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) (Updated 08-Dec-2022)

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 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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratotic papule 30 Occasional (7.5%) HP:0045059
2 follicular hyperkeratosis 30 HP:0007502
3 hypomelanotic macule 30 HP:0009719
4 reticular hyperpigmentation 30 HP:0007588

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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 28 POFUT1

Anatomical Context for Dowling-Degos Disease 2

Organs/tissues related to Dowling-Degos Disease 2:

MalaCards : Skin
ODiseA: 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. 57 5
23684010 2013
2
Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions. 5
31566882 2019
3
Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura. 5
25229252 2015
4
The spectrum of reticulate pigment disorders of the skin revisited. 57
23018017 2012
5
Fucosylated Proteome Profiling Identifies a Fucosylated, Non-Ribosomal, Stress-Responsive Species of Ribosomal Protein S3. 62
34070332 2021
6
Appraisal of gene action for indeterminate growth in mungbean [Vigna radiata (L.) Wilczek]. 62
26388879 2015
7
Comparison of collisional radiative models for edge electron density reconstruction from Li I (2s-2p) emission profiles. 62
23126851 2012

Variations for Dowling-Degos Disease 2

ClinVar genetic disease variations for Dowling-Degos Disease 2:

5 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POFUT1 NM_015352.2(POFUT1):c.430G>T (p.Glu144Ter) SNV Pathogenic
56808 rs398123038 GRCh37: 20:30804412-30804412
GRCh38: 20:32216609-32216609
2 POFUT1 NM_015352.2(POFUT1):c.482del (p.Lys161fs) DEL Pathogenic
56809 rs886041033 GRCh37: 20:30804463-30804463
GRCh38: 20:32216660-32216660
3 POFUT1 NM_015352.2(POFUT1):c.889_890del (p.Trp297fs) DEL Pathogenic
1344696 GRCh37: 20:30818775-30818776
GRCh38: 20:32230972-32230973
4 POFUT1 NM_015352.2(POFUT1):c.289C>T (p.Gln97Ter) SNV Pathogenic
574378 rs1569152303 GRCh37: 20:30803114-30803114
GRCh38: 20:32215311-32215311
5 POFUT1 NM_015352.2(POFUT1):c.125-15A>G SNV Uncertain Significance
1421678 GRCh37: 20:30797859-30797859
GRCh38: 20:32210056-32210056
6 POFUT1 NM_015352.2(POFUT1):c.1036C>G (p.Gln346Glu) SNV Uncertain Significance
1492767 GRCh37: 20:30822333-30822333
GRCh38: 20:32234530-32234530
7 POFUT1 NM_015352.2(POFUT1):c.671C>A (p.Ala224Asp) SNV Uncertain Significance
1461585 GRCh37: 20:30816194-30816194
GRCh38: 20:32228391-32228391
8 POFUT1 NM_015352.2(POFUT1):c.814C>T (p.Arg272Cys) SNV Uncertain Significance
1370881 GRCh37: 20:30818700-30818700
GRCh38: 20:32230897-32230897
9 POFUT1 NM_015352.2(POFUT1):c.90C>G (p.Asp30Glu) SNV Uncertain Significance
570946 rs368413950 GRCh37: 20:30795834-30795834
GRCh38: 20:32208031-32208031
10 POFUT1 NM_015352.2(POFUT1):c.637G>C (p.Val213Leu) SNV Uncertain Significance
940614 rs578147902 GRCh37: 20:30816160-30816160
GRCh38: 20:32228357-32228357
11 POFUT1 NM_015352.2(POFUT1):c.784A>G (p.Met262Val) SNV Uncertain Significance
1046967 rs748328963 GRCh37: 20:30818670-30818670
GRCh38: 20:32230867-32230867
12 POFUT1 NM_015352.2(POFUT1):c.416C>T (p.Thr139Met) SNV Uncertain Significance
1058589 GRCh37: 20:30803241-30803241
GRCh38: 20:32215438-32215438
13 POFUT1 NM_015352.2(POFUT1):c.394C>G (p.Gln132Glu) SNV Uncertain Significance
1716975 GRCh37: 20:30803219-30803219
GRCh38: 20:32215416-32215416
14 POFUT1 NM_015352.2(POFUT1):c.1155G>A (p.Arg385=) SNV Likely Benign
541310 rs780991231 GRCh37: 20:30822452-30822452
GRCh38: 20:32234649-32234649
15 POFUT1 NM_015352.2(POFUT1):c.542+19G>A SNV Likely Benign
1568454 GRCh37: 20:30804543-30804543
GRCh38: 20:32216740-32216740
16 POFUT1 NM_015352.2(POFUT1):c.234T>G (p.Pro78=) SNV Likely Benign
1096718 GRCh37: 20:30797983-30797983
GRCh38: 20:32210180-32210180
17 POFUT1 NM_015352.2(POFUT1):c.365G>A (p.Arg122Gln) SNV Likely Benign
1125214 GRCh37: 20:30803190-30803190
GRCh38: 20:32215387-32215387
18 POFUT1 NM_015352.2(POFUT1):c.144C>T (p.Ala48=) SNV Likely Benign
1157507 GRCh37: 20:30797893-30797893
GRCh38: 20:32210090-32210090
19 POFUT1 NM_015352.2(POFUT1):c.836C>T (p.Thr279Met) SNV Likely Benign
1533470 GRCh37: 20:30818722-30818722
GRCh38: 20:32230919-32230919
20 POFUT1 NM_015352.2(POFUT1):c.1128C>T (p.Phe376=) SNV Likely Benign
1642667 GRCh37: 20:30822425-30822425
GRCh38: 20:32234622-32234622
21 POFUT1 NM_015352.2(POFUT1):c.600C>T (p.Pro200=) SNV Likely Benign
1536532 GRCh37: 20:30816123-30816123
GRCh38: 20:32228320-32228320
22 POFUT1 NM_015352.2(POFUT1):c.1032C>T (p.Leu344=) SNV Likely Benign
1560693 GRCh37: 20:30822329-30822329
GRCh38: 20:32234526-32234526
23 POFUT1 NM_015352.2(POFUT1):c.736-12C>T SNV Benign
1554589 GRCh37: 20:30818610-30818610
GRCh38: 20:32230807-32230807
24 POFUT1 NM_015352.2(POFUT1):c.542+10G>T SNV Benign
1543816 GRCh37: 20:30804534-30804534
GRCh38: 20:32216731-32216731
25 POFUT1 NM_015352.2(POFUT1):c.736-13C>T SNV Benign
1548923 GRCh37: 20:30818609-30818609
GRCh38: 20:32230806-32230806
26 POFUT1 NM_015352.2(POFUT1):c.735+11C>A SNV Benign
1657624 GRCh37: 20:30816269-30816269
GRCh38: 20:32228466-32228466
27 POFUT1 NM_015352.2(POFUT1):c.588A>G (p.Pro196=) SNV Benign
474295 rs6579005 GRCh37: 20:30816111-30816111
GRCh38: 20:32228308-32228308
28 POFUT1 NM_015352.2(POFUT1):c.964C>T (p.Leu322Phe) SNV Benign
474296 rs17268666 GRCh37: 20:30818850-30818850
GRCh38: 20:32231047-32231047
29 POFUT1 NM_015352.2(POFUT1):c.1042G>A (p.Asp348Asn) SNV Benign
1592932 GRCh37: 20:30822339-30822339
GRCh38: 20:32234536-32234536
30 POFUT1 NM_015352.2(POFUT1):c.736-11G>A SNV Benign
1601343 GRCh37: 20:30818611-30818611
GRCh38: 20:32230808-32230808
31 POFUT1 NM_015352.2(POFUT1):c.542+15T>C SNV Benign
1647753 GRCh37: 20:30804539-30804539
GRCh38: 20:32216736-32216736
32 POFUT1 NM_015352.2(POFUT1):c.542+11G>T SNV Benign
445499 rs139014980 GRCh37: 20:30804535-30804535
GRCh38: 20:32216732-32216732
33 POFUT1 NM_015352.2(POFUT1):c.741C>T (p.Asn247=) SNV Benign
1165427 GRCh37: 20:30818627-30818627
GRCh38: 20:32230824-32230824
34 POFUT1 NM_015352.2(POFUT1):c.75T>C (p.Pro25=) SNV Benign
683580 rs1923095 GRCh37: 20:30795819-30795819
GRCh38: 20:32208016-32208016
35 POFUT1 NM_015352.2(POFUT1):c.147T>C (p.Asp49=) SNV Benign
760405 rs113552438 GRCh37: 20:30797896-30797896
GRCh38: 20:32210093-32210093
36 POFUT1 NM_015352.2(POFUT1):c.867G>A (p.Glu289=) SNV Benign
1169451 GRCh37: 20:30818753-30818753
GRCh38: 20:32230950-32230950
37 POFUT1 NM_015352.2(POFUT1):c.736-5C>T SNV Benign
759691 rs550972707 GRCh37: 20:30818617-30818617
GRCh38: 20:32230814-32230814
38 POFUT1 NM_015352.2(POFUT1):c.900G>A (p.Ser300=) SNV Benign
710154 rs78861748 GRCh37: 20:30818786-30818786
GRCh38: 20:32230983-32230983
39 POFUT1 NM_015352.2(POFUT1):c.751A>G (p.Met251Val) SNV Benign
719060 rs79984831 GRCh37: 20:30818637-30818637
GRCh38: 20:32230834-32230834
40 POFUT1 NM_015352.2(POFUT1):c.937G>A (p.Glu313Lys) SNV Benign
774965 rs35968884 GRCh37: 20:30818823-30818823
GRCh38: 20:32231020-32231020
41 POFUT1 NM_015352.2(POFUT1):c.1158C>T (p.Asp386=) SNV Benign
778880 rs7263390 GRCh37: 20:30822455-30822455
GRCh38: 20:32234652-32234652
42 POFUT1 NM_015352.2(POFUT1):c.542+11G>C SNV Benign
1170434 GRCh37: 20:30804535-30804535
GRCh38: 20:32216732-32216732

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....