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DUH
MCID: DYS023
MIFTS: 32

Dyschromatosis Universalis Hereditaria (DUH)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Dyschromatosis Universalis Hereditaria

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MalaCards integrated aliases for Dyschromatosis Universalis Hereditaria:

Name: Dyschromatosis Universalis Hereditaria 12 20 58 36 29 44 15 71
Duh 20

Characteristics:

Orphanet epidemiological data:

58
dyschromatosis universalis hereditaria
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Skin diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060304
KEGG 36 H02350
MeSH 44 C535730
ICD10 via Orphanet 33 L81.8
UMLS via Orphanet 72 C1306229
Orphanet 58 ORPHA241
UMLS 71 C2930995
Sources

Summaries for Dyschromatosis Universalis Hereditaria

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GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 241DefinitionA rare, genetic, pigmentation anomaly of the skin characterized by generalized, irregularly shaped, asymptomatic, hyper- and hypopigmented macules distributed in a reticular pattern involving the trunk, limbs, and sometimes the face. The palms, soles and mucosa are usually not affected. Systemic abnormalities have been rarely reported.Visit the Orphanet disease page for more resources.

MalaCards based summary : Dyschromatosis Universalis Hereditaria, also known as duh, is related to dyschromatosis universalis hereditaria 1 and dyschromatosis symmetrica hereditaria. An important gene associated with Dyschromatosis Universalis Hereditaria is ABCB6 (ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)). Affiliated tissues include skin, and related phenotypes are hypermelanotic macule and spotty hypopigmentation

Disease Ontology : 12 A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.

KEGG : 36 Dyschromatosis universalis hereditaria (DUH) is a group of congenital pigmentary disorders characterized by asymptomatic hypo- and hyper-pigmented macules of irregular size and shape which appear early in life. At least two causative genes, ABCB6 and SASH1, have been reported.

Wikipedia : 74 Dyschromatosis universalis hereditaria is a rare genodermatosis characterized by reticulate hyper- and... more...

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Related Diseases for Dyschromatosis Universalis Hereditaria

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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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 dyschromatosis universalis hereditaria 1 33.4 SASH1 DUH1
2 dyschromatosis symmetrica hereditaria 30.9 DUH1 ADAR ABCB6
3 dowling-degos disease 30.4 KRT5 KRT4 ADAR
4 dyschromatosis universalis hereditaria 3 12.0
5 dyschromatosis universalis hereditaria 2 11.9
6 erythrokeratoderma ''en cocardes'' 10.8
7 rare genetic skin disease 10.6
8 lentigines 10.4
9 dowling-degos disease 1 10.4
10 skin disease 10.4
11 coloboma of macula 10.2
12 adermatoglyphia 10.2
13 tuberous sclerosis 1 10.2
14 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
15 malignant atrophic papulosis 10.2
16 autosomal recessive disease 10.2
17 hypospadias 10.2
18 hydronephrosis 10.2
19 tuberous sclerosis 10.2
20 hypothyroidism 10.2
21 thrombocytopenia 10.2
22 keratosis 10.2
23 kidney disease 10.2
24 hypopigmentation of the skin 10.2
25 cloacogenic carcinoma 10.2 KRT5 KRT4
26 deafness, autosomal recessive 84a 10.1 PTPRR PTPRQ
27 reticulate acropigmentation of kitamura 10.1 KRT5 KRT4 ADAR
28 deafness, autosomal dominant 1, with or without thrombocytopenia 10.0 PTPRR PTPRQ
29 epidermolysis bullosa simplex with mottled pigmentation 10.0 KRT5 KRT4
30 borst-jadassohn intraepidermal carcinoma 10.0 KRT5 FECH
31 deafness, autosomal recessive 16 10.0 PTPRR PTPRQ
32 epidermolysis bullosa simplex, dowling-meara type 10.0 KRT5 KRT4
33 pigmentation disease 9.9 ADAR ABCB6
34 anemia, sideroblastic, and spinocerebellar ataxia 9.7 FECH ABCB7
35 protoporphyria, erythropoietic, 1 9.7 FECH ABCB7 ABCB6

Graphical network of the top 20 diseases related to Dyschromatosis Universalis Hereditaria:



Diseases related to Dyschromatosis Universalis Hereditaria
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Symptoms & Phenotypes for Dyschromatosis Universalis Hereditaria

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Human phenotypes related to Dyschromatosis Universalis Hereditaria:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypermelanotic macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001034
2 spotty hypopigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005590
3 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
4 multiple cafe-au-lait spots 58 31 frequent (33%) Frequent (79-30%) HP:0007565
5 freckling 58 31 frequent (33%) Frequent (79-30%) HP:0001480
6 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0000992
7 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
8 hypopigmented skin patches 58 Very frequent (99-80%)
9 macule 58 Very frequent (99-80%)
Sources

Drugs & Therapeutics for Dyschromatosis Universalis Hereditaria

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Search Clinical Trials , NIH Clinical Center for Dyschromatosis Universalis Hereditaria

Cochrane evidence based reviews: dyschromatosis universalis hereditaria

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Genetic Tests for Dyschromatosis Universalis Hereditaria

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Genetic tests related to Dyschromatosis Universalis Hereditaria:

# Genetic test Affiliating Genes
1 Dyschromatosis Universalis Hereditaria 29
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Anatomical Context for Dyschromatosis Universalis Hereditaria

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MalaCards organs/tissues related to Dyschromatosis Universalis Hereditaria:

40
Skin
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Publications for Dyschromatosis Universalis Hereditaria

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Articles related to Dyschromatosis Universalis Hereditaria:

(show top 50) (show all 62)
# Title Authors PMID Year
1
Mutated SASH1 promotes Mitf expression in a heterozygous mutated SASH1 knock‑in mouse model. 61
32582980 2020
2
Dyschromatosis Universalis Hereditaria with Hypospadias: A Rare Association. 61
32477990 2020
3
Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis. 61
32849825 2020
4
SASH1 promotes melanin synthesis and migration via suppression of TGF-β1 secretion in melanocytes resulting in pathologic hyperpigmentation. 61
32174800 2020
5
Novel mutations in SASH1 associated with dyschromatosis universalis hereditaria. 61
29956681 2019
6
Atypical presentation of dyschromatosis universalis hereditaria with a novel ABCB6 mutation. 61
30430618 2019
7
A Rare Case of Foveal Hypoplasia With Dyschromatosis Universalis. 61
30893455 2019
8
ABCB6 Resides in Melanosomes and Regulates Early Steps of Melanogenesis Required for PMEL Amyloid Matrix Formation. 61
29940187 2018
9
ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis. 61
28964717 2018
10
Removal of forearm lentigines in dyschromatosis universalis hereditaria with a 755-nm Q-switched alexandrite laser. 61
29379862 2018
11
p53 regulates ERK1/2/CREB cascade via a novel SASH1/MAP2K2 crosstalk to induce hyperpigmentation. 61
28382689 2017
12
Updated review of genetic reticulate pigmentary disorders. 61
28407215 2017
13
A novel P53/POMC/Gαs/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation. 61
27885802 2017
14
Clinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders. 61
29201043 2017
15
Dyschromatosis universalis hereditaria: report of six cases from a family. 61
28329614 2016
16
A Case Report of Dyschromatosis Universalis Hereditaria (DUH) with Primary Ovarian Failure (POF). 61
27134983 2016
17
Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing. 61
26712430 2016
18
Dyschromias: A Series of Five Interesting Cases from India. 61
26677297 2015
19
Dyschromatosis Universalis Hereditaria with Oral Leukokeratosis--A Case of Mistaken Identity and Review of the Literature. 61
26269252 2015
20
Abrupt onset of dyschromatosis universalis hereditaria with macromelanosomes. 61
26408469 2015
21
[Abrupt onset of dyschromatosis universalis hereditaria with macromelanosomes]. 61
26408470 2015
22
A Case of Sporadic Dyschromatosis Universalis Hereditaria. 61
26273173 2015
23
Ultrastructural Investigations in an Autosomal Recessively Inherited Case of Dyschromatosis Universalis Hereditaria. 61
25474346 2015
24
A case of dyschromatosis universalis hereditaria with adermatoglyphia: A rare association. 61
25821732 2015
25
Dyschromatosis universalis hereditaria with renal failure. 61
25969678 2015
26
Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria. 61
25288164 2014
27
Dyschromatosis universalis hereditaria with involvement of palms. 61
25165647 2014
28
Dyschromatosis universalis hereditaria: a case report. 61
24320734 2014
29
Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria. 61
24498303 2014
30
Dyschromatosis universalis hereditaria: Infrequent genodermatoses in India. 61
24497720 2013
31
Mutations in ABCB6 cause dyschromatosis universalis hereditaria. 61
23519333 2013
32
Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria. 61
24224009 2013
33
Thrombocytopenia in dyschromatosis universalis hereditaria. 61
23086030 2012
34
Photoletter to the editor: Dyschromatosis universalis hereditaria: an infrequently occurring entity in Europe. 61
23091589 2012
35
Dyschromatosis universalis hereditaria in an African American male. 61
21906483 2011
36
Removal of facial and labial lentigines in dyschromatosis universalis hereditaria with a Q-switched alexandrite laser. 61
21763558 2011
37
Dyschromatosis universalis hereditaria: a rare entity. 61
21810391 2011
38
KITLG mutations cause familial progressive hyper- and hypopigmentation. 61
21368769 2011
39
Dyschromatosis universalis hereditaria: a case report. 61
21382285 2011
40
Dowling-Degos disease. 61
20191141 2010
41
Two Taiwanese siblings with dyschromatosis universalis hereditaria. 61
19538186 2009
42
Dyschromatosis universalis hereditaria in a young Nigerian female. 61
19570083 2009
43
Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23. 61
18462451 2008
44
Dyschromatosis universalis hereditaria: two cases. 61
18700119 2008
45
Generalized Dowling-Degos disease. 61
17637446 2007
46
Tuberous sclerosis complex associated with dyschromatosis universalis hereditaria. 61
16880579 2006
47
Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family. 61
16684309 2006
48
Dyschromatosis universalis hereditaria: two cases in a Chinese family. 61
16045675 2005
49
Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis. 61
15955093 2005
50
Dowling-Degos disease with dyschromatosis universalis hereditaria-like pigmentation in a family. 61
15482301 2004
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Variations for Dyschromatosis Universalis Hereditaria

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Expression for Dyschromatosis Universalis Hereditaria

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

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GO Terms for Dyschromatosis Universalis Hereditaria

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Biological processes related to Dyschromatosis Universalis Hereditaria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 porphyrin-containing compound biosynthetic process GO:0006779 8.96 FECH ABCB6
2 heme transport GO:0015886 8.62 ABCB7 ABCB6

Molecular functions related to Dyschromatosis Universalis Hereditaria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.8 TAP1 ABCB7 ABCB6
Sources

Sources for Dyschromatosis Universalis Hereditaria

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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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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