MCID: DYS023
MIFTS: 42

Dyschromatosis Universalis Hereditaria

Categories: Rare diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Dyschromatosis Universalis Hereditaria

MalaCards integrated aliases for Dyschromatosis Universalis Hereditaria:

Name: Dyschromatosis Universalis Hereditaria 12 49 55 41 14 69
Duh 49

Characteristics:

Orphanet epidemiological data:

55
dyschromatosis universalis hereditaria
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:

Orphanet: 55  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060304
MeSH 41 C535730
Orphanet 55 ORPHA241
UMLS via Orphanet 70 C1306229
ICD10 via Orphanet 33 L81.8
UMLS 69 C2930995

Summaries for Dyschromatosis Universalis Hereditaria

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

MalaCards based summary : Dyschromatosis Universalis Hereditaria, also known as duh, is related to dyschromatosis universalis hereditaria 3 and dyschromatosis symmetrica hereditaria, and has symptoms including hearing impairment, cutaneous photosensitivity and hypermelanotic macule. An important gene associated with Dyschromatosis Universalis Hereditaria is ABCB6 (ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include skin, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 72 Dyschromatosis universalis hereditaria is a rare genodermatosis characterized by reticulate hyper- and... more...

Related Diseases for Dyschromatosis Universalis Hereditaria

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:

55 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000365
2 cutaneous photosensitivity 55 31 frequent (33%) Frequent (79-30%) HP:0000992
3 hypermelanotic macule 55 31 hallmark (90%) Very frequent (99-80%) HP:0001034
4 freckling 55 31 frequent (33%) Frequent (79-30%) HP:0001480
5 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
6 spotty hypopigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0005590
7 multiple cafe-au-lait spots 55 31 frequent (33%) Frequent (79-30%) HP:0007565
8 hypopigmented skin patches 55 Very frequent (99-80%)
9 macule 55 Very frequent (99-80%)

MGI Mouse Phenotypes related to Dyschromatosis Universalis Hereditaria:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 CREB1 ENPP1 GNA11 KRT5 MAP2K2 MAPK3
2 growth/size/body region MP:0005378 10.03 ADAR CREB1 ENPP1 GNA11 KITLG KRT5
3 craniofacial MP:0005382 9.87 KITLG KRT5 MAP2K2 MAPK3 MC1R SPRED1
4 integument MP:0010771 9.7 ABCB6 ADAR ENPP1 GNA11 KITLG KRT5
5 hearing/vestibular/ear MP:0005377 9.63 ENPP1 GNA11 KITLG MAP2K2 MAPK3 MC1R
6 neoplasm MP:0002006 9.1 KITLG MAP2K2 MAPK3 MC1R POMC XPC

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

Anatomical Context for Dyschromatosis Universalis Hereditaria

MalaCards organs/tissues related to Dyschromatosis Universalis Hereditaria:

38
Skin

Publications for Dyschromatosis Universalis Hereditaria

Articles related to Dyschromatosis Universalis Hereditaria:

(show all 41)
# Title Authors Year
1
Removal of forearm lentigines in dyschromatosis universalis hereditaria with a 755-nm Q-switched alexandrite laser. ( 29379862 )
2018
2
A Case Report of Dyschromatosis Universalis Hereditaria (DUH) with Primary Ovarian Failure (POF). ( 27134983 )
2016
3
Dyschromatosis universalis hereditaria: report of six cases from a family. ( 28329614 )
2016
4
Dyschromatosis universalis hereditaria with renal failure. ( 25969678 )
2015
5
Abrupt onset of dyschromatosis universalis hereditaria with macromelanosomes. ( 26408469 )
2015
6
Abrupt beginnende Dyschromatosis universalis hereditaria mit Makromelanosomen. ( 26408470 )
2015
7
A Case of Sporadic Dyschromatosis Universalis Hereditaria. ( 26273173 )
2015
8
A case of dyschromatosis universalis hereditaria with adermatoglyphia: A rare association. ( 25821732 )
2015
9
Dyschromatosis Universalis Hereditaria with Oral Leukokeratosis-A Case of Mistaken Identity and Review of the Literature. ( 26269252 )
2015
10
Dyschromatosis universalis hereditaria with involvement of palms. ( 25165647 )
2014
11
Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria. ( 25288164 )
2014
12
Ultrastructural Investigations in an Autosomal Recessively Inherited Case of Dyschromatosis Universalis Hereditaria. ( 25474346 )
2014
13
Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria. ( 24498303 )
2014
14
Dyschromatosis universalis hereditaria: a case report. ( 24320734 )
2013
15
Dyschromatosis universalis hereditaria: Infrequent genodermatoses in India. ( 24497720 )
2013
16
Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria. ( 24224009 )
2013
17
Mutations in ABCB6 cause dyschromatosis universalis hereditaria. ( 23519333 )
2013
18
Photoletter to the editor: Dyschromatosis universalis hereditaria: an infrequently occurring entity in Europe. ( 23091589 )
2012
19
Thrombocytopenia in dyschromatosis universalis hereditaria. ( 23086030 )
2012
20
Dyschromatosis universalis hereditaria in an African American male. ( 21906483 )
2011
21
Dyschromatosis universalis hereditaria: a case report. ( 21382285 )
2011
22
Removal of facial and labial lentigines in dyschromatosis universalis hereditaria with a Q-switched alexandrite laser. ( 21763558 )
2011
23
Dyschromatosis universalis hereditaria: a rare entity. ( 21810391 )
2011
24
Two Taiwanese siblings with dyschromatosis universalis hereditaria. ( 19538186 )
2009
25
Dyschromatosis universalis hereditaria in a young Nigerian female. ( 19570083 )
2009
26
Dyschromatosis universalis hereditaria: two cases. ( 18700119 )
2008
27
Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23. ( 18462451 )
2008
28
Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family. ( 16684309 )
2006
29
Tuberous sclerosis complex associated with dyschromatosis universalis hereditaria. ( 16880579 )
2006
30
Dyschromatosis universalis hereditaria: two cases in a Chinese family. ( 16045675 )
2005
31
Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis. ( 15955093 )
2005
32
Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation. ( 14994234 )
2004
33
Dowling-Degos disease with dyschromatosis universalis hereditaria-like pigmentation in a family. ( 15482301 )
2004
34
Dyschromatosis universalis hereditaria: report of a case and review of the literature. ( 12437556 )
2002
35
Dyschromatosis universalis hereditaria. ( 12372090 )
2002
36
Dyschromatosis universalis hereditaria: a unique disorder. ( 10723761 )
2000
37
Dyschromatosis universalis hereditaria. ( 20877065 )
2000
38
Localized form of dyschromatosis universalis hereditaria in a 14-year-old girl. ( 10515773 )
1999
39
Dyschromatosis universalis hereditaria: an electron microscopic examination. ( 9114612 )
1997
40
Dyschromatosis universalis hereditaria: report of a case. ( 1686890 )
1991
41
Genetical studies on skin diseases. VII. Dyschromatosis universalis hereditaria in 5 generations. ( 14950856 )
1952

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

Pathways related to Dyschromatosis Universalis Hereditaria according to GeneCards Suite gene sharing:

(show all 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.25 CREB1 GNA11 GNA15 MAP2K2 MAPK3 VTN
2
Show member pathways
12.93 CREB1 GNA11 GNA15 KITLG MAP2K2 MAPK3
3
Show member pathways
12.89 CREB1 GNA11 GNA15 MAP2K2 MAPK3 POMC
4
Show member pathways
12.75 CREB1 GNA11 KITLG MAP2K2 MAPK3
5
Show member pathways
12.71 CREB1 GNA11 MAP2K2 MAPK3 SPRED1
6
Show member pathways
12.68 CREB1 GNA11 MAP2K2 MAPK3
7
Show member pathways
12.49 CREB1 GNA11 MAP2K2 MAPK3 VTN
8
Show member pathways
12.48 GNA11 GNA15 MAP2K2 MAPK3
9
Show member pathways
12.44 GNA11 GNA15 MAP2K2 MAPK3
10 12.32 CREB1 GNA11 GNA15 MAPK3
11
Show member pathways
12.24 CREB1 GNA15 MAP2K2 MAPK3
12
Show member pathways
12.09 CREB1 GNA11 GNA15 MAP2K2 MAPK3
13
Show member pathways
12.03 KITLG MAP2K2 MAPK3 SPRED1
14
Show member pathways
11.89 GNA11 GNA15 MAPK3
15
Show member pathways
11.89 CREB1 GNA11 MAP2K2 MAPK3
16
Show member pathways
11.84 GNA11 GNA15 MAP2K2 MAPK3
17 11.81 CREB1 MAP2K2 MAPK3
18
Show member pathways
11.79 CREB1 KITLG MAP2K2 MAPK3 MC1R POMC
19 11.78 CREB1 MAP2K2 MAPK3
20 11.73 GNA11 MAP2K2 MAPK3
21 11.67 CREB1 GNA11 MAPK3 POMC
22 11.66 CREB1 MAP2K2 MAPK3
23 11.54 CREB1 KRT5 MAPK3 POMC
24 11.49 GNA11 MAP2K2 MAPK3
25 11.33 CREB1 MAP2K2 MAPK3
26 11.21 CREB1 GNA11 GNA15 MAP2K2 MAPK3
27 11.17 CREB1 MAP2K2 MAPK3
28 10.96 MAP2K2 MAPK3
29 10.91 MAP2K2 MAPK3
30 10.91 GNA11 GNA15 KITLG MAP2K2 MAPK3
31
Show member pathways
10.84 GNA11 GNA15
32 10.71 CREB1 MAP2K2 MAPK3
33 10.63 CREB1 KITLG MAPK3 MC1R POMC
34 10.59 CREB1 MAP2K2 MAPK3

GO Terms for Dyschromatosis Universalis Hereditaria

Cellular components related to Dyschromatosis Universalis Hereditaria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.4 ABCB5 ABCB6 ENPP1 GNA11 GNA15 KITLG

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

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.62 KITLG MAP2K2 MAPK3 SPRED1
2 platelet activation GO:0030168 9.58 GNA11 GNA15 MAPK3
3 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.37 GNA11 GNA15
4 UV-damage excision repair GO:0070914 9.26 MC1R XPC
5 regulation of stress-activated MAPK cascade GO:0032872 9.16 MAP2K2 MAPK3
6 regulation of early endosome to late endosome transport GO:2000641 8.96 MAP2K2 MAPK3
7 regulation of Golgi inheritance GO:0090170 8.62 MAP2K2 MAPK3

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

# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor binding GO:0001664 9.43 GNA11 GNA15 POMC
2 guanyl nucleotide binding GO:0019001 9.4 GNA11 GNA15
3 polysaccharide binding GO:0030247 9.37 ENPP1 VTN
4 scaffold protein binding GO:0097110 9.33 KRT5 MAP2K2 MAPK3
5 MAP kinase kinase activity GO:0004708 9.32 MAP2K2 MAPK3
6 efflux transmembrane transporter activity GO:0015562 8.96 ABCB5 ABCB6
7 stem cell factor receptor binding GO:0005173 8.62 KITLG SPRED1

Sources for Dyschromatosis Universalis Hereditaria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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