DUH1
MCID: DYS090
MIFTS: 16

Dyschromatosis Universalis Hereditaria 1 (DUH1)

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

Aliases & Classifications for Dyschromatosis Universalis Hereditaria 1

MalaCards integrated aliases for Dyschromatosis Universalis Hereditaria 1:

Name: Dyschromatosis Universalis Hereditaria 1 58 13 74
Dyschromatosis Universalis Hereditaria, Type 1 41
Duh1 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
new skin lesions stop appearing before adolescence
majority of cases in japan
onset in infancy/early childhood


HPO:

33
dyschromatosis universalis hereditaria 1:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 127500
MedGen 43 C2675711
SNOMED-CT via HPO 70 263681008
UMLS 74 C2675711

Summaries for Dyschromatosis Universalis Hereditaria 1

OMIM : 58 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). (127500)

MalaCards based summary : Dyschromatosis Universalis Hereditaria 1, also known as dyschromatosis universalis hereditaria, type 1, is related to dyschromatosis universalis hereditaria and dyschromatosis universalis hereditaria 2. An important gene associated with Dyschromatosis Universalis Hereditaria 1 is DUH1 (Dyschromatosis Universalis Hereditaria). Affiliated tissues include skin, and related phenotype is hyperpigmented/hypopigmented macules.

Related Diseases for Dyschromatosis Universalis Hereditaria 1

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

# Related Disease Score Top Affiliating Genes
1 dyschromatosis universalis hereditaria 11.3
2 dyschromatosis universalis hereditaria 2 11.1
3 dyschromatosis universalis hereditaria 3 11.1
4 dyschromatosis symmetrica hereditaria 11.1

Symptoms & Phenotypes for Dyschromatosis Universalis Hereditaria 1

Human phenotypes related to Dyschromatosis Universalis Hereditaria 1:

33
# Description HPO Frequency HPO Source Accession
1 hyperpigmented/hypopigmented macules 33 HP:0007441

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
hyperpigmented/hypopigmented macules (trunk, extremities, occasionally face)

Clinical features from OMIM:

127500

Drugs & Therapeutics for Dyschromatosis Universalis Hereditaria 1

Search Clinical Trials , NIH Clinical Center for Dyschromatosis Universalis Hereditaria 1

Genetic Tests for Dyschromatosis Universalis Hereditaria 1

Anatomical Context for Dyschromatosis Universalis Hereditaria 1

MalaCards organs/tissues related to Dyschromatosis Universalis Hereditaria 1:

42
Skin

Publications for Dyschromatosis Universalis Hereditaria 1

Variations for Dyschromatosis Universalis Hereditaria 1

Expression for Dyschromatosis Universalis Hereditaria 1

Search GEO for disease gene expression data for Dyschromatosis Universalis Hereditaria 1.

Pathways for Dyschromatosis Universalis Hereditaria 1

GO Terms for Dyschromatosis Universalis Hereditaria 1

Sources for Dyschromatosis Universalis Hereditaria 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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