MCID: DYS139
MIFTS: 28

Dyschromatosis Universalis Hereditaria 3

Categories: Genetic 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 75 29 6 73
Duh3 57 75
Dyschromatosis Universalis Hereditaria, Type 3 40
Symmetric Dyschromatosis of the Extremities 75
Symmetrical Dyschromatosis of Extremities 73
Dyschromatosis Symmetrica Hereditaria 75
Reticulate Acropigmentation of Dohi 75
Dsh 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
dyschromatosis universalis hereditaria 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615402
MeSH 44 D010859
SNOMED-CT via HPO 69 263681008
UMLS 73 C3809394

Summaries for Dyschromatosis Universalis Hereditaria 3

UniProtKB/Swiss-Prot : 75 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 dystonia. An important gene associated with Dyschromatosis Universalis Hereditaria 3 is ABCB6 (ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)). Affiliated tissues include testes.

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)

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:

# Related Disease Score Top Affiliating Genes
1 dyschromatosis symmetrica hereditaria 13.0
2 dystonia 10.4
3 xeroderma pigmentosum, variant type 10.3
4 hemangioma 10.3
5 cutaneous lupus erythematosus 10.3
6 dyschromatosis universalis hereditaria 10.3
7 viral encephalitis 10.3
8 hyperthyroidism 10.3
9 lupus erythematosus 10.3
10 encephalitis 10.3

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

Symptoms via clinical synopsis from OMIM:

57
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

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

MalaCards organs/tissues related to Dyschromatosis Universalis Hereditaria 3:

41
Testes

Publications for Dyschromatosis Universalis Hereditaria 3

Articles related to Dyschromatosis Universalis Hereditaria 3:

(show top 50) (show all 82)
# Title Authors Year
1
Four novel mutations of <i>ADAR1</i> in Chinese patients with dyschromatosis symmetrica hereditaria. ( 29536976 )
2018
2
Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria. ( 29915444 )
2018
3
Bilateral striatal necrosis and dyschromatosis symmetrica hereditaria: A-I editing efficiency of ADAR1 mutants and phenotype expression. ( 29603717 )
2018
4
Eight Novel Mutations of the ADAR1 Gene in Chinese Patients with Dyschromatosis Symmetrica Hereditaria. ( 29185800 )
2018
5
Sunlight is merely a temporary modifier of dyschromatosis symmetrica hereditaria. ( 29400290 )
2018
6
Dyschromatosis symmetrica hereditaria with chilblains due to a novel two-amino-acid deletion in the double-stranded RNA-binding domain of ADAR1. ( 29775506 )
2018
7
A novel missense mutation of ADAR1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review. ( 29321362 )
2017
8
Dyschromatosis symmetrica hereditaria with cutaneous lupus erythematosus and hyperthyroidism. ( 28496371 )
2017
9
Ultrastructural study of dyschromatosis symmetrica hereditaria with widespread pigmentary eruption. ( 28370262 )
2017
10
A novel frameshift mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria and the dermoscopic features. ( 28502110 )
2017
11
Pathogenicity of ADAR1 mutation in a Chinese family with dyschromatosis symmetrica hereditaria. ( 28502085 )
2017
12
Novel mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria. ( 27230815 )
2016
13
[Two novel mutations of the ADAR1 gene associated with dyschromatosis symmetrica hereditaria]. ( 27060309 )
2016
14
Dyschromatosis Symmetrica Hereditaria and Aicardi-GoutiA"res Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations. ( 26802932 )
2016
15
Dyschromatosis symmetrica hereditaria complicated by intracranial hemangiomas and Parry-Romberg syndrome. ( 27040761 )
2016
16
Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene. ( 26892242 )
2016
17
A novel splice site mutation in the ADAR gene leading to exon skipping and dyschromatosis symmetrica hereditaria in a Japanese patient. ( 27747905 )
2016
18
Novel de novo heterozygous frameshift mutation of the ADAR1 gene in heavy dyschromatosis symmetrica hereditaria. ( 27814417 )
2016
19
Two novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria successfully treated with fractional CO2 laser. ( 25763870 )
2015
20
A novel missense mutation in ADAR1 gene causing dyschromatosis symmetrica hereditaria in a Chinese patient. ( 25900931 )
2015
21
[Detection of ADAR1 gene mutation in a family with dyschromatosis symmetrica hereditaria]. ( 26037352 )
2015
22
Mutation analyses of patients with dyschromatosis symmetrica hereditaria: Ten novel mutations of the ADAR1 gene. ( 25982145 )
2015
23
Dyschromatosis symmetrica hereditaria of late onset? ( 24826352 )
2014
24
Mutation analysis of the ADAR1 gene in a Chinese Family with dyschromatosis symmetrica hereditaria. ( 24433377 )
2014
25
Dyschromatosis symmetrica hereditaria with neurological abnormalities. ( 25382520 )
2014
26
A novel deletion mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria. ( 25189252 )
2014
27
A novel nonsense mutation of ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria. ( 24673593 )
2014
28
Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria. ( 24950769 )
2014
29
A frameshift mutation in the ADAR gene in a Korean family with dyschromatosis symmetrica hereditaria. ( 25468572 )
2014
30
Novel ADAR1 mutations including a single amino acid deletion in the deaminase domain underlie dyschromatosis symmetrica hereditaria in Japanese families. ( 23621649 )
2014
31
A novel insertion mutation in the ADAR1 gene of a Chinese family with dyschromatosis symmetrica hereditaria. ( 24065641 )
2013
32
Two novel mutations in the DSRAD gene in two Chinese pedigrees with dyschromatosis symmetrica hereditaria. ( 24446047 )
2013
33
What is the novel clinical finding in dyschromatosis symmetrica hereditaria? ( 22974199 )
2013
34
Patient with dyschromatosis symmetrica hereditaria treated with miniature punch grafting, followed by excimer light therapy. ( 23803141 )
2013
35
Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria. ( 23315877 )
2013
36
Dyschromatosis symmetrica hereditaria. ( 22974014 )
2013
37
Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis: a hidden link? ( 24261734 )
2013
38
The adenosine deaminase acting on RNA 1 p150 isoform is involved in the pathogenesis of dyschromatosis symmetrica hereditaria. ( 23621630 )
2013
39
Four novel ADAR1 gene mutations in patients with dyschromatosis symmetrica hereditaria. ( 23336285 )
2012
40
Novel clinical and molecular findings in Chinese families with dyschromatosis symmetrica hereditaria. ( 22077581 )
2012
41
A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. ( 22843049 )
2012
42
Eleven novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria. ( 22336994 )
2012
43
Two novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria. ( 23075647 )
2012
44
Dyschromatosis symmetrica hereditaria with long hair on the forearms, hypo/hyperpigmented hair, and dental anomalies: report of a novel ADAR1 mutation. ( 22821605 )
2012
45
Two novel frameshift mutations of the DSRAD gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria. ( 22039911 )
2012
46
Double-stranded RNA-specific adenosine deaminase (DSRAD) gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH). ( 20412337 )
2011
47
Identification of two novel splice mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria. ( 21933234 )
2011
48
A novel complex insertion-deletion mutation in ADAR1 gene in a Chinese family with dyschromatosis symmetrica hereditaria. ( 20586835 )
2011
49
Identification of a novel mutation in the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. ( 20708476 )
2010
50
Four novel and two recurrent mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria. ( 20430589 )
2010

Variations for Dyschromatosis Universalis Hereditaria 3

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

75
# 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

ClinVar genetic disease variations for Dyschromatosis Universalis Hereditaria 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCB6 NM_005689.3(ABCB6): c.1067T> C (p.Leu356Pro) single nucleotide variant Pathogenic rs397514756 GRCh37 Chromosome 2, 220080806: 220080806
2 ABCB6 NM_005689.3(ABCB6): c.1067T> C (p.Leu356Pro) single nucleotide variant Pathogenic rs397514756 GRCh38 Chromosome 2, 219216084: 219216084
3 ABCB6 NM_005689.3(ABCB6): c.508A> G (p.Ser170Gly) single nucleotide variant Pathogenic rs397514757 GRCh37 Chromosome 2, 220082888: 220082888
4 ABCB6 NM_005689.3(ABCB6): c.508A> G (p.Ser170Gly) single nucleotide variant Pathogenic rs397514757 GRCh38 Chromosome 2, 219218166: 219218166
5 ABCB6 NM_005689.3(ABCB6): c.1736G> A (p.Gly579Glu) single nucleotide variant Pathogenic rs397514758 GRCh37 Chromosome 2, 220078032: 220078032
6 ABCB6 NM_005689.3(ABCB6): c.1736G> A (p.Gly579Glu) single nucleotide variant Pathogenic rs397514758 GRCh38 Chromosome 2, 219213310: 219213310
7 ABCB6 NM_005689.3(ABCB6): c.1663C> A (p.Gln555Lys) single nucleotide variant Pathogenic rs796065353 GRCh37 Chromosome 2, 220078217: 220078217
8 ABCB6 NM_005689.3(ABCB6): c.1663C> A (p.Gln555Lys) single nucleotide variant Pathogenic rs796065353 GRCh38 Chromosome 2, 219213495: 219213495

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 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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