DUH2
MCID: DYS091
MIFTS: 13

Dyschromatosis Universalis Hereditaria 2 (DUH2)

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

Aliases & Classifications for Dyschromatosis Universalis Hereditaria 2

MalaCards integrated aliases for Dyschromatosis Universalis Hereditaria 2:

Name: Dyschromatosis Universalis Hereditaria 2 56 13 71
Dyschromatosis Universalis Hereditaria, Type 2 39
Duh2 56

Classifications:



External Ids:

OMIM 56 612715
OMIM Phenotypic Series 56 PS127500
UMLS 71 C2675183

Summaries for Dyschromatosis Universalis Hereditaria 2

OMIM : 56 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 dyschromatosis universalis hereditaria, see DUH1 (127500). (612715)

MalaCards based summary : Dyschromatosis Universalis Hereditaria 2, also known as dyschromatosis universalis hereditaria, type 2, is related to dyschromatosis universalis hereditaria. An important gene associated with Dyschromatosis Universalis Hereditaria 2 is DUH2 (Dyschromatosis Universalis Hereditaria 2).

Related Diseases for Dyschromatosis Universalis Hereditaria 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dyschromatosis universalis hereditaria 11.4

Symptoms & Phenotypes for Dyschromatosis Universalis Hereditaria 2

Clinical features from OMIM:

612715

Drugs & Therapeutics for Dyschromatosis Universalis Hereditaria 2

Search Clinical Trials , NIH Clinical Center for Dyschromatosis Universalis Hereditaria 2

Genetic Tests for Dyschromatosis Universalis Hereditaria 2

Anatomical Context for Dyschromatosis Universalis Hereditaria 2

Publications for Dyschromatosis Universalis Hereditaria 2

Articles related to Dyschromatosis Universalis Hereditaria 2:

# Title Authors PMID Year
1
Mutations in ABCB6 cause dyschromatosis universalis hereditaria. 56
23519333 2013
2
Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23. 56
18462451 2008
3
KITLG mutations cause familial progressive hyper- and hypopigmentation. 61
21368769 2011

Variations for Dyschromatosis Universalis Hereditaria 2

Expression for Dyschromatosis Universalis Hereditaria 2

Search GEO for disease gene expression data for Dyschromatosis Universalis Hereditaria 2.

Pathways for Dyschromatosis Universalis Hereditaria 2

GO Terms for Dyschromatosis Universalis Hereditaria 2

Sources for Dyschromatosis Universalis Hereditaria 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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