DUH1
MCID: DYS090
MIFTS: 24

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 57 72 29 13 6 70
Duh1 57 72
Dyschromatosis Universalis Hereditaria, Type 1 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
dyschromatosis universalis hereditaria 1:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM® 57 127500
OMIM Phenotypic Series 57 PS127500
MeSH 44 D010859
MedGen 41 C2675711
SNOMED-CT via HPO 68 263681008
UMLS 70 C2675711

Summaries for Dyschromatosis Universalis Hereditaria 1

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). 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) (Updated 20-May-2021)

MalaCards based summary : Dyschromatosis Universalis Hereditaria 1, also known as duh1, 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.

UniProtKB/Swiss-Prot : 72 Dyschromatosis universalis hereditaria 1: A form of dyschromatosis universalis, 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.

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 30.6 SASH1 DUH1
2 dyschromatosis symmetrica hereditaria 10.9
3 dyschromatosis universalis hereditaria 2 10.9
4 dyschromatosis universalis hereditaria 3 10.9

Symptoms & Phenotypes for Dyschromatosis Universalis Hereditaria 1

Human phenotypes related to Dyschromatosis Universalis Hereditaria 1:

31
# Description HPO Frequency HPO Source Accession
1 hyperpigmented/hypopigmented macules 31 HP:0007441

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
hyperpigmented/hypopigmented macules (trunk, extremities, occasionally face)

Clinical features from OMIM®:

127500 (Updated 20-May-2021)

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

Genetic tests related to Dyschromatosis Universalis Hereditaria 1:

# Genetic test Affiliating Genes
1 Dyschromatosis Universalis Hereditaria 1 29 SASH1

Anatomical Context for Dyschromatosis Universalis Hereditaria 1

MalaCards organs/tissues related to Dyschromatosis Universalis Hereditaria 1:

40
Skin

Publications for Dyschromatosis Universalis Hereditaria 1

Articles related to Dyschromatosis Universalis Hereditaria 1:

(show all 15)
# Title Authors PMID Year
1
Novel mutations in SASH1 associated with dyschromatosis universalis hereditaria. 6 57
29956681 2019
2
A novel P53/POMC/Gαs/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation. 57 6
27885802 2017
3
A Novel De novo Mutation of the SASH1 Gene in a Chinese Family with Multiple Lentigines. 57 6
27840890 2017
4
Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination. 6 57
27659786 2016
5
SASH1 Is Involved in an Autosomal Dominant Lentiginous Phenotype. 6 57
26203640 2015
6
SASH1 regulates melanocyte transepithelial migration through a novel Gαs-SASH1-IQGAP1-E-Cadherin dependent pathway. 6 57
23333244 2013
7
Genetic heterogeneity in the multiple lentigines/LEOPARD/Noonan syndromes. 6 57
15150790 2004
8
Exclusion of candidate genes and loci for multiple lentigines syndrome. 6 57
12190883 2002
9
Updated review of genetic reticulate pigmentary disorders. 57
28407215 2017
10
Mutations in ABCB6 cause dyschromatosis universalis hereditaria. 57
23519333 2013
11
Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria. 57
15724015 2005
12
Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation. 57
14994234 2004
13
Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. 57
12916015 2003
14
A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2. 57
12815562 2003
15
Genetical studies on skin diseases. VII. Dyschromatosis universalis hereditaria in 5 generations. 57
14950856 1952

Variations for Dyschromatosis Universalis Hereditaria 1

ClinVar genetic disease variations for Dyschromatosis Universalis Hereditaria 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SASH1 NM_015278.5(SASH1):c.1527_1530dup (p.Leu511fs) Duplication Pathogenic 624631 rs1562489165 GRCh37: 6:148852759-148852760
GRCh38: 6:148531623-148531624
2 SASH1 NM_015278.5(SASH1):c.1519T>G (p.Ser507Ala) SNV Likely pathogenic 624632 rs1562489143 GRCh37: 6:148852752-148852752
GRCh38: 6:148531616-148531616
3 SASH1 NM_015278.5(SASH1):c.1651T>C (p.Tyr551His) SNV Likely pathogenic 624633 rs1562490566 GRCh37: 6:148854019-148854019
GRCh38: 6:148532883-148532883
4 SASH1 NM_015278.5(SASH1):c.1651T>G (p.Tyr551Asp) SNV Likely pathogenic 624625 rs1562490566 GRCh37: 6:148854019-148854019
GRCh38: 6:148532883-148532883
5 SASH1 NM_015278.5(SASH1):c.1544T>C (p.Leu515Pro) SNV Likely pathogenic 624626 rs1562489224 GRCh37: 6:148852777-148852777
GRCh38: 6:148531641-148531641
6 SASH1 NM_015278.5(SASH1):c.1525G>A (p.Glu509Lys) SNV Likely pathogenic 624627 rs1562489156 GRCh37: 6:148852758-148852758
GRCh38: 6:148531622-148531622
7 SASH1 NM_015278.5(SASH1):c.1556G>A (p.Ser519Asn) SNV Likely pathogenic 624629 rs1562489240 GRCh37: 6:148852789-148852789
GRCh38: 6:148531653-148531653
8 SASH1 NM_015278.5(SASH1):c.1537A>C (p.Ser513Arg) SNV Uncertain significance 624630 rs1237876014 GRCh37: 6:148852770-148852770
GRCh38: 6:148531634-148531634
9 SASH1 NM_015278.5(SASH1):c.1784T>C (p.Met595Thr) SNV Uncertain significance 624634 rs1562491501 GRCh37: 6:148854956-148854956
GRCh38: 6:148533820-148533820

UniProtKB/Swiss-Prot genetic disease variations for Dyschromatosis Universalis Hereditaria 1:

72
# Symbol AA change Variation ID SNP ID
1 SASH1 p.Ser507Ala VAR_082102 rs156248914
2 SASH1 p.Glu509Lys VAR_082103 rs156248915
3 SASH1 p.Leu515Pro VAR_082105 rs156248922
4 SASH1 p.Ser519Asn VAR_082106 rs156248924
5 SASH1 p.Tyr551Asp VAR_082107 rs156249056
6 SASH1 p.Tyr551His VAR_082108 rs156249056

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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