DUH
MCID: DYS023
MIFTS: 31

Dyschromatosis Universalis Hereditaria (DUH)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Dyschromatosis Universalis Hereditaria

MalaCards integrated aliases for Dyschromatosis Universalis Hereditaria:

Name: Dyschromatosis Universalis Hereditaria 11 19 58 28 43 14 71 75
Duh 19

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 11 DOID:0060304
MeSH 43 C535730
NCIt 49 C173131
ICD10 via Orphanet 32 L81.8
UMLS via Orphanet 72 C1306229
Orphanet 58 ORPHA241
UMLS 71 C2930995

Summaries for Dyschromatosis Universalis Hereditaria

GARD: 19 A 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.

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 spotty hypopigmentation and hearing impairment

Orphanet: 58 A 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.

Disease Ontology: 11 A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.

Wikipedia: 75 Dyschromatosis universalis hereditaria is a rare genodermatosis characterized by reticulate hyper- and... more...

Related Diseases for Dyschromatosis Universalis Hereditaria

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 33.2 SASH1 DUH1
2 dyschromatosis symmetrica hereditaria 30.7 SASH1 DUH1 ADAR ABCB6
3 reticulate acropigmentation of kitamura 30.3 SASH1 KRT5 ADAR
4 dyschromatosis universalis hereditaria 3 12.0
5 dyschromatosis universalis hereditaria 2 12.0
6 skin disease 10.9
7 erythrokeratoderma ''en cocardes'' 10.9
8 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.7
9 rare genetic skin disease 10.7
10 lentigines 10.4
11 coloboma, ocular, autosomal dominant 10.2
12 coloboma of macula 10.2
13 dilution, pigmentary 10.2
14 adermatoglyphia 10.2
15 tuberous sclerosis 1 10.2
16 multiple pterygium syndrome, escobar variant 10.2
17 ataxia with vitamin e deficiency 10.2
18 malignant atrophic papulosis 10.2
19 tuberous sclerosis 2 10.2
20 aicardi-goutieres syndrome 6 10.2
21 dowling-degos disease 10.2
22 premature menopause 10.2
23 hypospadias 10.2
24 hydronephrosis 10.2
25 tuberous sclerosis 10.2
26 hypothyroidism 10.2
27 thrombocytopenia 10.2
28 keratosis 10.2
29 kidney disease 10.2
30 coloboma of iris 10.2
31 hypopigmentation of the skin 10.2
32 pigmentation anomaly of the skin 10.2
33 epidermolysis bullosa simplex 2f, with mottled pigmentation 10.0 SASH1 KRT5
34 pigmentation disease 10.0 ADAR ABCB6
35 atrophic rhinitis 9.0 UAP1L1 TPRA1 QTRT1 PLEKHG2 NEURL4 NDOR1

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



Diseases related to Dyschromatosis Universalis Hereditaria

Symptoms & Phenotypes for Dyschromatosis Universalis Hereditaria

Human phenotypes related to Dyschromatosis Universalis Hereditaria:

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

MGI Mouse Phenotypes related to Dyschromatosis Universalis Hereditaria:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.23 ABCB6 ADAR CLUH KRT5 MAP2K2 MLPH

Drugs & Therapeutics for Dyschromatosis Universalis Hereditaria

Search Clinical Trials, NIH Clinical Center for Dyschromatosis Universalis Hereditaria

Cochrane evidence based reviews: dyschromatosis universalis hereditaria

Genetic Tests for Dyschromatosis Universalis Hereditaria

Genetic tests related to Dyschromatosis Universalis Hereditaria:

# Genetic test Affiliating Genes
1 Dyschromatosis Universalis Hereditaria 28

Anatomical Context for Dyschromatosis Universalis Hereditaria

Organs/tissues related to Dyschromatosis Universalis Hereditaria:

MalaCards : Skin

Publications for Dyschromatosis Universalis Hereditaria

Articles related to Dyschromatosis Universalis Hereditaria:

(show top 50) (show all 67)
# Title Authors PMID Year
1
A novel mutation in ABCB6 associated with dyschromatosis universalis hereditaria in a Saudi family. 62
35024399 2022
2
Sporadic Dyschromatosis Universalis Hereditaria: A Second Case Report From Iran. 62
34430125 2021
3
Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria. 62
34028087 2021
4
Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria. 62
34174894 2021
5
Dyschromatosis Universalis Hereditaria. 62
34812175 2021
6
Mutated SASH1 promotes Mitf expression in a heterozygous mutated SASH1 knock‑in mouse model. 62
32582980 2020
7
Dyschromatosis Universalis Hereditaria with Hypospadias: A Rare Association. 62
32477990 2020
8
SASH1 promotes melanin synthesis and migration via suppression of TGF-β1 secretion in melanocytes resulting in pathologic hyperpigmentation. 62
32174800 2020
9
Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis. 62
32849825 2020
10
Novel mutations in SASH1 associated with dyschromatosis universalis hereditaria. 62
29956681 2019
11
Atypical presentation of dyschromatosis universalis hereditaria with a novel ABCB6 mutation. 62
30430618 2019
12
A Rare Case of Foveal Hypoplasia With Dyschromatosis Universalis. 62
30893455 2019
13
ABCB6 Resides in Melanosomes and Regulates Early Steps of Melanogenesis Required for PMEL Amyloid Matrix Formation. 62
29940187 2018
14
ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis. 62
28964717 2018
15
Removal of forearm lentigines in dyschromatosis universalis hereditaria with a 755-nm Q-switched alexandrite laser. 62
29379862 2018
16
p53 regulates ERK1/2/CREB cascade via a novel SASH1/MAP2K2 crosstalk to induce hyperpigmentation. 62
28382689 2017
17
Updated review of genetic reticulate pigmentary disorders. 62
28407215 2017
18
A novel P53/POMC/Gαs/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation. 62
27885802 2017
19
Clinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders. 62
29201043 2017
20
Dyschromatosis universalis hereditaria: report of six cases from a family. 62
28329614 2016
21
A Case Report of Dyschromatosis Universalis Hereditaria (DUH) with Primary Ovarian Failure (POF). 62
27134983 2016
22
Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing. 62
26712430 2016
23
Dyschromias: A Series of Five Interesting Cases from India. 62
26677297 2015
24
Dyschromatosis Universalis Hereditaria with Oral Leukokeratosis--A Case of Mistaken Identity and Review of the Literature. 62
26269252 2015
25
Abrupt onset of dyschromatosis universalis hereditaria with macromelanosomes. 62
26408469 2015
26
[Abrupt onset of dyschromatosis universalis hereditaria with macromelanosomes]. 62
26408470 2015
27
A Case of Sporadic Dyschromatosis Universalis Hereditaria. 62
26273173 2015
28
Ultrastructural Investigations in an Autosomal Recessively Inherited Case of Dyschromatosis Universalis Hereditaria. 62
25474346 2015
29
A case of dyschromatosis universalis hereditaria with adermatoglyphia: A rare association. 62
25821732 2015
30
Dyschromatosis universalis hereditaria with renal failure. 62
25969678 2015
31
Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria. 62
25288164 2014
32
Dyschromatosis universalis hereditaria with involvement of palms. 62
25165647 2014
33
Dyschromatosis universalis hereditaria: a case report. 62
24320734 2014
34
Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria. 62
24498303 2014
35
Dyschromatosis universalis hereditaria: Infrequent genodermatoses in India. 62
24497720 2013
36
Mutations in ABCB6 cause dyschromatosis universalis hereditaria. 62
23519333 2013
37
Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria. 62
24224009 2013
38
Thrombocytopenia in dyschromatosis universalis hereditaria. 62
23086030 2012
39
Photoletter to the editor: Dyschromatosis universalis hereditaria: an infrequently occurring entity in Europe. 62
23091589 2012
40
Removal of facial and labial lentigines in dyschromatosis universalis hereditaria with a Q-switched alexandrite laser. 62
21763558 2011
41
Dyschromatosis universalis hereditaria in an African American male. 62
21906483 2011
42
Dyschromatosis universalis hereditaria: a rare entity. 62
21810391 2011
43
KITLG mutations cause familial progressive hyper- and hypopigmentation. 62
21368769 2011
44
Dyschromatosis universalis hereditaria: a case report. 62
21382285 2011
45
Dowling-Degos disease. 62
20191141 2010
46
Two Taiwanese siblings with dyschromatosis universalis hereditaria. 62
19538186 2009
47
Dyschromatosis universalis hereditaria in a young Nigerian female. 62
19570083 2009
48
Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23. 62
18462451 2008
49
Dyschromatosis universalis hereditaria: two cases. 62
18700119 2008
50
Generalized Dowling-Degos disease. 62
17637446 2007

Variations for Dyschromatosis Universalis Hereditaria

Expression for Dyschromatosis Universalis Hereditaria

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

Pathways for Dyschromatosis Universalis Hereditaria

GO Terms for Dyschromatosis Universalis Hereditaria

Sources for Dyschromatosis Universalis Hereditaria

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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