MCID: DYS023
MIFTS: 41

Dyschromatosis Universalis Hereditaria

Categories: Rare diseases, Skin diseases, Genetic diseases

Aliases & Classifications for Dyschromatosis Universalis Hereditaria

MalaCards integrated aliases for Dyschromatosis Universalis Hereditaria:

Name: Dyschromatosis Universalis Hereditaria 12 53 59 44 15 73
Duh 53

Characteristics:

Orphanet epidemiological data:

59
dyschromatosis universalis hereditaria
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060304
MeSH 44 C535730
Orphanet 59 ORPHA241
ICD10 via Orphanet 34 L81.8
UMLS via Orphanet 74 C1306229
UMLS 73 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 symmetrica hereditaria and dowling-degos disease 1. 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 Phospholipase-C Pathway and PI3K-Akt signaling pathway. Affiliated tissues include skin, and related phenotypes are hearing impairment and cutaneous photosensitivity

Wikipedia : 76 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:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
2 cutaneous photosensitivity 59 32 frequent (33%) Frequent (79-30%) HP:0000992
3 hypermelanotic macule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001034
4 freckling 59 32 frequent (33%) Frequent (79-30%) HP:0001480
5 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
6 spotty hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005590
7 multiple cafe-au-lait spots 59 32 frequent (33%) Frequent (79-30%) HP:0007565
8 hypopigmented skin patches 59 Very frequent (99-80%)
9 macule 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Dyschromatosis Universalis Hereditaria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.9 ADAR CREB1 ENPP1 GNA11 KITLG KRT5
2 craniofacial MP:0005382 9.8 GNA11 KITLG KRT5 MAP2K2 MAPK3 MC1R
3 hearing/vestibular/ear MP:0005377 9.43 MC1R ENPP1 GNA11 KITLG MAP2K2 MAPK3
4 integument MP:0010771 9.32 ABCB6 ADAR ENPP1 GNA11 KITLG KRT5

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:

41
Skin

Publications for Dyschromatosis Universalis Hereditaria

Articles related to Dyschromatosis Universalis Hereditaria:

(show all 42)
# Title Authors Year
1
Removal of forearm lentigines in dyschromatosis universalis hereditaria with a 755-nm Q-switched alexandrite laser. ( 29379862 )
2018
2
Novel mutations in <i>SASH1</i> associated with dyschromatosis universalis hereditaria. ( 29956681 )
2018
3
Dyschromatosis universalis hereditaria: report of six cases from a family. ( 28329614 )
2016
4
A Case Report of Dyschromatosis Universalis Hereditaria (DUH) with Primary Ovarian Failure (POF). ( 27134983 )
2016
5
Dyschromatosis Universalis Hereditaria with Oral Leukokeratosis-A Case of Mistaken Identity and Review of the Literature. ( 26269252 )
2015
6
Abrupt onset of dyschromatosis universalis hereditaria with macromelanosomes. ( 26408469 )
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 renal failure. ( 25969678 )
2015
10
Abrupt beginnende Dyschromatosis universalis hereditaria mit Makromelanosomen. ( 26408470 )
2015
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
Dyschromatosis universalis hereditaria with involvement of palms. ( 25165647 )
2014
14
Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria. ( 24498303 )
2014
15
Mutations in ABCB6 cause dyschromatosis universalis hereditaria. ( 23519333 )
2013
16
Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria. ( 24224009 )
2013
17
Dyschromatosis universalis hereditaria: Infrequent genodermatoses in India. ( 24497720 )
2013
18
Dyschromatosis universalis hereditaria: a case report. ( 24320734 )
2013
19
Photoletter to the editor: Dyschromatosis universalis hereditaria: an infrequently occurring entity in Europe. ( 23091589 )
2012
20
Thrombocytopenia in dyschromatosis universalis hereditaria. ( 23086030 )
2012
21
Removal of facial and labial lentigines in dyschromatosis universalis hereditaria with a Q-switched alexandrite laser. ( 21763558 )
2011
22
Dyschromatosis universalis hereditaria: a rare entity. ( 21810391 )
2011
23
Dyschromatosis universalis hereditaria: a case report. ( 21382285 )
2011
24
Dyschromatosis universalis hereditaria in an African American male. ( 21906483 )
2011
25
Dyschromatosis universalis hereditaria in a young Nigerian female. ( 19570083 )
2009
26
Two Taiwanese siblings with dyschromatosis universalis hereditaria. ( 19538186 )
2009
27
Dyschromatosis universalis hereditaria: two cases. ( 18700119 )
2008
28
Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23. ( 18462451 )
2008
29
Tuberous sclerosis complex associated with dyschromatosis universalis hereditaria. ( 16880579 )
2006
30
Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family. ( 16684309 )
2006
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: two cases in a Chinese family. ( 16045675 )
2005
33
Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation. ( 14994234 )
2004
34
Dowling-Degos disease with dyschromatosis universalis hereditaria-like pigmentation in a family. ( 15482301 )
2004
35
Dyschromatosis universalis hereditaria: report of a case and review of the literature. ( 12437556 )
2002
36
Dyschromatosis universalis hereditaria. ( 12372090 )
2002
37
Dyschromatosis universalis hereditaria. ( 20877065 )
2000
38
Dyschromatosis universalis hereditaria: a unique disorder. ( 10723761 )
2000
39
Localized form of dyschromatosis universalis hereditaria in a 14-year-old girl. ( 10515773 )
1999
40
Dyschromatosis universalis hereditaria: an electron microscopic examination. ( 9114612 )
1997
41
Dyschromatosis universalis hereditaria: report of a case. ( 1686890 )
1991
42
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 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.92 CREB1 GNA11 GNA15 KITLG MAP2K2 MAPK3
2
Show member pathways
12.87 CREB1 KITLG MAP2K2 MAPK3 VTN
3
Show member pathways
12.87 CREB1 GNA11 GNA15 MAP2K2 MAPK3 POMC
4
Show member pathways
12.77 CREB1 GNA11 KITLG MAP2K2 MAPK3 MC1R
5
Show member pathways
12.72 CREB1 GNA11 GNA15 MAP2K2 MAPK3
6
Show member pathways
12.69 CREB1 GNA11 MAP2K2 MAPK3 SPRED1
7
Show member pathways
12.45 GNA11 GNA15 MAP2K2 MAPK3
8
Show member pathways
12.29 CREB1 MAP2K2 MAPK3 VTN
9
Show member pathways
12.23 CREB1 GNA15 MAP2K2 MAPK3
10
Show member pathways
12.02 KITLG MAP2K2 MAPK3 SPRED1
11
Show member pathways
11.98 CREB1 GNA11 GNA15 MAP2K2 MAPK3
12
Show member pathways
11.97 MAP2K2 MAPK3 SPRED1
13
Show member pathways
11.93 CREB1 MAP2K2 MAPK3
14
Show member pathways
11.9 CREB1 MAP2K2 MAPK3
15
Show member pathways
11.87 CREB1 GNA11 GNA15 MAPK3
16
Show member pathways
11.86 GNA11 GNA15 MAPK3
17
Show member pathways
11.85 CREB1 GNA11 MAP2K2 MAPK3
18
Show member pathways
11.82 GNA11 GNA15 MAP2K2 MAPK3
19 11.81 CREB1 GNA11 MAPK3
20 11.78 CREB1 MAP2K2 MAPK3
21 11.75 CREB1 MAP2K2 MAPK3
22 11.7 GNA11 MAP2K2 MAPK3
23 11.67 CREB1 GNA11 MAPK3 POMC
24 11.49 GNA11 MAP2K2 MAPK3
25 11.37 CREB1 KRT5 MAPK3 POMC
26 11.31 CREB1 MAP2K2 MAPK3
27 11.17 CREB1 MAP2K2 MAPK3
28 11.01 MAP2K2 MAPK3
29 10.98 MAP2K2 MAPK3
30 10.95 MAP2K2 MAPK3
31 10.88 MAP2K2 MAPK3
32
Show member pathways
10.82 GNA11 GNA15
33 10.78 CREB1 MAP2K2 MAPK3
34 10.63 CREB1 KITLG MAPK3 MC1R POMC
35 10.39 CREB1 MAP2K2 MAPK3

GO Terms for Dyschromatosis Universalis Hereditaria

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 9.56 KITLG MAP2K2 MAPK3 SPRED1
2 platelet activation GO:0030168 9.54 GNA11 GNA15 MAPK3
3 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.32 GNA11 GNA15
4 regulation of stress-activated MAPK cascade GO:0032872 9.16 MAP2K2 MAPK3
5 regulation of early endosome to late endosome transport GO:2000641 8.96 MAP2K2 MAPK3
6 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 beta/gamma-subunit complex binding GO:0031683 9.43 GNA11 GNA15
2 G-protein coupled receptor binding GO:0001664 9.43 GNA11 GNA15 POMC
3 guanyl nucleotide binding GO:0019001 9.4 GNA11 GNA15
4 polysaccharide binding GO:0030247 9.37 ENPP1 VTN
5 scaffold protein binding GO:0097110 9.33 KRT5 MAP2K2 MAPK3
6 MAP kinase kinase activity GO:0004708 9.32 MAP2K2 MAPK3
7 efflux transmembrane transporter activity GO:0015562 8.96 ABCB5 ABCB6
8 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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