DUH1
MCID: DYS090
MIFTS: 19

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 6 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). The autosomal dominant SASH1-associated DUH1 phenotype is characterized by generalized lentigines accompanied by mottled hyper- and hypopigmentation (Zhang et al., 2017). DUH is distinct from dyschromatosis symmetrica hereditaria (DSH; 127400), which also occurs particularly in Japanese and Korean individuals, but shows a characteristic mixture of hyper- and hypopigmented macules limited largely to the dorsal aspects of the hands and feet (Suenaga, 1952). Gao et al. (2005) noted that lesions associated with DUH appear within the first year of life predominantly on the trunk, whereas the age of onset of DSH is approximately 6 years and lesions appear predominantly on the extremities. (127500)

MalaCards based summary : Dyschromatosis Universalis Hereditaria 1, also known as dyschromatosis universalis hereditaria, type 1, is related to dyschromatosis universalis hereditaria and dyschromatosis symmetrica hereditaria. An important gene associated with Dyschromatosis Universalis Hereditaria 1 is SASH1 (SAM And SH3 Domain Containing 1). 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 31.2 DUH1 SASH1
2 dyschromatosis symmetrica hereditaria 11.1
3 dyschromatosis universalis hereditaria 2 11.1
4 dyschromatosis universalis hereditaria 3 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

Articles related to Dyschromatosis Universalis Hereditaria 1:

# Title Authors Year
1
Novel mutations in SASH1 associated with dyschromatosis universalis hereditaria. ( 29956681 )
2018
2
A novel P53/POMC/Gαs/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation. ( 27885802 )
2017
3
A Novel De novo Mutation of the SASH1 Gene in a Chinese Family with Multiple Lentigines. ( 27840890 )
2017
4
Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination. ( 27659786 )
2016
5
SASH1 Is Involved in an Autosomal Dominant Lentiginous Phenotype. ( 26203640 )
2015
6
SASH1 regulates melanocyte transepithelial migration through a novel Gαs-SASH1-IQGAP1-E-Cadherin dependent pathway. ( 23333244 )
2013
7
Genetic heterogeneity in the multiple lentigines/LEOPARD/Noonan syndromes. ( 15150790 )
2004
8
Exclusion of candidate genes and loci for multiple lentigines syndrome. ( 12190883 )
2002

Variations for Dyschromatosis Universalis Hereditaria 1

ClinVar genetic disease variations for Dyschromatosis Universalis Hereditaria 1:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 SASH1 NM_015278.5(SASH1): c.1651T> G (p.Tyr551Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 148532883: 148532883
2 SASH1 NM_015278.5(SASH1): c.1651T> G (p.Tyr551Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 148854019: 148854019
3 SASH1 NM_015278.5(SASH1): c.1544T> C (p.Leu515Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 148531641: 148531641
4 SASH1 NM_015278.5(SASH1): c.1544T> C (p.Leu515Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 148852777: 148852777
5 SASH1 NM_015278.5(SASH1): c.1525G> A (p.Glu509Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 148852758: 148852758
6 SASH1 NM_015278.5(SASH1): c.1525G> A (p.Glu509Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 148531622: 148531622
7 SASH1 NM_015278.5(SASH1): c.1556G> A (p.Ser519Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 148531653: 148531653
8 SASH1 NM_015278.5(SASH1): c.1556G> A (p.Ser519Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 148852789: 148852789
9 SASH1 NM_015278.5(SASH1): c.1537A> C (p.Ser513Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 148852770: 148852770
10 SASH1 NM_015278.5(SASH1): c.1537A> C (p.Ser513Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 148531634: 148531634
11 SASH1 NM_015278.5(SASH1): c.1527_1530dup (p.Leu511Lysfs) duplication Pathogenic GRCh38 Chromosome 6, 148531624: 148531627
12 SASH1 NM_015278.5(SASH1): c.1527_1530dup (p.Leu511Lysfs) duplication Pathogenic GRCh37 Chromosome 6, 148852760: 148852763
13 SASH1 NM_015278.5(SASH1): c.1519T> G (p.Ser507Ala) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 148852752: 148852752
14 SASH1 NM_015278.5(SASH1): c.1519T> G (p.Ser507Ala) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 148531616: 148531616
15 SASH1 NM_015278.5(SASH1): c.1651T> C (p.Tyr551His) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 148854019: 148854019
16 SASH1 NM_015278.5(SASH1): c.1651T> C (p.Tyr551His) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 148532883: 148532883
17 SASH1 NM_015278.5(SASH1): c.1784T> C (p.Met595Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 148854956: 148854956
18 SASH1 NM_015278.5(SASH1): c.1784T> C (p.Met595Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 148533820: 148533820

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

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