DUH3
MCID: DYS139
MIFTS: 25

Dyschromatosis Universalis Hereditaria 3 (DUH3)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Dyschromatosis Universalis Hereditaria 3

MalaCards integrated aliases for Dyschromatosis Universalis Hereditaria 3:

Name: Dyschromatosis Universalis Hereditaria 3 57 72 29 6 70
Duh3 57 72
Dyschromatosis Universalis Hereditaria, Type 3 39
Symmetric Dyschromatosis of the Extremities 72
Symmetrical Dyschromatosis of Extremities 70
Dyschromatosis Symmetrica Hereditaria 72
Reticulate Acropigmentation of Dohi 72
Dsh 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
lesions appear in infancy or early childhood
hair, nails, and teeth are normal


HPO:

31
dyschromatosis universalis hereditaria 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615402
OMIM Phenotypic Series 57 PS127500
MeSH 44 D010859
SNOMED-CT via HPO 68 263681008
UMLS 70 C0406775 C3809394

Summaries for Dyschromatosis Universalis Hereditaria 3

UniProtKB/Swiss-Prot : 72 Dyschromatosis universalis hereditaria 3: An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications.

MalaCards based summary : Dyschromatosis Universalis Hereditaria 3, also known as duh3, is related to dyschromatosis symmetrica hereditaria and dyschromatosis universalis hereditaria 1. An important gene associated with Dyschromatosis Universalis Hereditaria 3 is ABCB6 (ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)). Related phenotypes are hypermelanotic macule and hypopigmented macule

OMIM® : 57 Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013). For a discussion of genetic heterogeneity of DUH, see DUH1 (127500). (615402) (Updated 05-Apr-2021)

Related Diseases for Dyschromatosis Universalis Hereditaria 3

Diseases in the Dyschromatosis Universalis Hereditaria family:

Dyschromatosis Universalis Hereditaria 1 Dyschromatosis Universalis Hereditaria 2
Dyschromatosis Universalis Hereditaria 3

Diseases related to Dyschromatosis Universalis Hereditaria 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 dyschromatosis symmetrica hereditaria 12.2
2 dyschromatosis universalis hereditaria 1 11.4
3 erythrokeratoderma ''en cocardes'' 10.9
4 aicardi-goutieres syndrome 6 10.8
5 aicardi-goutieres syndrome 10.7
6 dystonia 10.7
7 skin disease 10.7
8 xeroderma pigmentosum, variant type 10.6
9 vitiligo-associated multiple autoimmune disease susceptibility 6 10.4
10 vitiligo-associated multiple autoimmune disease susceptibility 1 10.4
11 cutaneous lupus erythematosus 10.4
12 hemangioma 10.4
13 hyperthyroidism 10.4
14 neurofibromatosis 10.3
15 alzheimer disease 10.3
16 dens evaginatus 10.3
17 dystonia 1, torsion, autosomal dominant 10.3
18 hemifacial atrophy, progressive 10.3
19 malignant atrophic papulosis 10.3
20 reticulate acropigmentation of kitamura 10.3
21 dowling-degos disease 10.3
22 dyschromatosis universalis hereditaria 10.3
23 pigmentation disease 10.3
24 facial hemiatrophy 10.3
25 pustulosis of palm and sole 10.3
26 skin hemangioma 10.3
27 cavernous hemangioma 10.3
28 viral encephalitis 10.3
29 lupus erythematosus 10.3
30 psoriasis 10.3
31 encephalitis 10.3
32 hereditary dystonia 10.3
33 perniosis 10.3
34 rare genetic skin disease 10.3
35 hepatocellular carcinoma 9.9
36 cleidocranial dysplasia 9.9
37 avoidant personality disorder 9.9
38 personality disorder 9.9
39 cleidocranial dysplasia spectrum disorder 9.9

Graphical network of the top 20 diseases related to Dyschromatosis Universalis Hereditaria 3:



Diseases related to Dyschromatosis Universalis Hereditaria 3

Symptoms & Phenotypes for Dyschromatosis Universalis Hereditaria 3

Human phenotypes related to Dyschromatosis Universalis Hereditaria 3:

31
# Description HPO Frequency HPO Source Accession
1 hypermelanotic macule 31 HP:0001034
2 hypopigmented macule 31 HP:0020073

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
hyperpigmented macules of variable size and shape located in a symmetrical pattern primarily on face, neck, trunk, and dorsa of hands and feet

Skin Nails Hair Skin Histology:
pigmented basal layer of epidermis
pigmentary incontinence in the papillary dermis
some melanophages and lymphocytes in the upper dermis

Clinical features from OMIM®:

615402 (Updated 05-Apr-2021)

Drugs & Therapeutics for Dyschromatosis Universalis Hereditaria 3

Search Clinical Trials , NIH Clinical Center for Dyschromatosis Universalis Hereditaria 3

Genetic Tests for Dyschromatosis Universalis Hereditaria 3

Genetic tests related to Dyschromatosis Universalis Hereditaria 3:

# Genetic test Affiliating Genes
1 Dyschromatosis Universalis Hereditaria 3 29 ABCB6

Anatomical Context for Dyschromatosis Universalis Hereditaria 3

Publications for Dyschromatosis Universalis Hereditaria 3

Articles related to Dyschromatosis Universalis Hereditaria 3:

# Title Authors PMID Year
1
Mutations in ABCB6 cause dyschromatosis universalis hereditaria. 6 57
23519333 2013
2
Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria. 57 6
24224009 2013
3
Novel mutations of the RNA-specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria. 61
15102079 2004

Variations for Dyschromatosis Universalis Hereditaria 3

ClinVar genetic disease variations for Dyschromatosis Universalis Hereditaria 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCB6 NM_005689.4(ABCB6):c.1067T>C (p.Leu356Pro) SNV Pathogenic 64646 rs397514756 GRCh37: 2:220080806-220080806
GRCh38: 2:219216084-219216084
2 ABCB6 NM_005689.4(ABCB6):c.508A>G (p.Ser170Gly) SNV Pathogenic 64647 rs397514757 GRCh37: 2:220082888-220082888
GRCh38: 2:219218166-219218166
3 ABCB6 NM_005689.4(ABCB6):c.1736G>A (p.Gly579Glu) SNV Pathogenic 64648 rs397514758 GRCh37: 2:220078032-220078032
GRCh38: 2:219213310-219213310
4 ABCB6 NM_005689.4(ABCB6):c.1663C>A (p.Gln555Lys) SNV Pathogenic 208249 rs796065353 GRCh37: 2:220078217-220078217
GRCh38: 2:219213495-219213495
5 ABCB6 NM_005689.4(ABCB6):c.369G>A (p.Trp123Ter) SNV Pathogenic 997666 GRCh37: 2:220083027-220083027
GRCh38: 2:219218305-219218305
6 ABCB6 NM_005689.4(ABCB6):c.1663C>T (p.Gln555Ter) SNV Pathogenic 1034204 GRCh37: 2:220078217-220078217
GRCh38: 2:219213495-219213495
7 ABCB6 NM_005689.4(ABCB6):c.376del (p.Val126fs) Deletion Pathogenic 1034205 GRCh37: 2:220083020-220083020
GRCh38: 2:219218298-219218298
8 ABCB6 NM_005689.4(ABCB6):c.459del (p.Trp154fs) Deletion Pathogenic 1034206 GRCh37: 2:220082937-220082937
GRCh38: 2:219218215-219218215

UniProtKB/Swiss-Prot genetic disease variations for Dyschromatosis Universalis Hereditaria 3:

72
# Symbol AA change Variation ID SNP ID
1 ABCB6 p.Ser170Gly VAR_070602 rs397514757
2 ABCB6 p.Leu356Pro VAR_070603 rs397514756
3 ABCB6 p.Gly579Glu VAR_070604 rs397514758
4 ABCB6 p.Ala453Val VAR_071135
5 ABCB6 p.Gln555Lys VAR_071136 rs796065353
6 ABCB6 p.Ser322Arg VAR_073973
7 ABCB6 p.Tyr424His VAR_073974

Expression for Dyschromatosis Universalis Hereditaria 3

Search GEO for disease gene expression data for Dyschromatosis Universalis Hereditaria 3.

Pathways for Dyschromatosis Universalis Hereditaria 3

GO Terms for Dyschromatosis Universalis Hereditaria 3

Sources for Dyschromatosis Universalis Hereditaria 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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