MCID: DYS023
MIFTS: 32

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 50 42 14 69
Duh 50

Classifications:



External Ids:

Disease Ontology 12 DOID:0060304
MeSH 42 C535730
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 symmetrica hereditaria and dyschromatosis universalis hereditaria 3. 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 CREB Pathway and p70S6K Signaling. Affiliated tissues include skin, and related phenotypes are craniofacial 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

MGI Mouse Phenotypes related to Dyschromatosis Universalis Hereditaria:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.7 KITLG KRT5 MAP2K2 MAPK3 MC1R SPRED1
2 growth/size/body region MP:0005378 9.65 ADAR CREB1 GNA11 KITLG KRT5 MAP2K2
3 integument MP:0010771 9.17 GNA11 KITLG KRT5 MAP2K2 MAPK3 MC1R

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:

39
Skin

Publications for Dyschromatosis Universalis Hereditaria

Articles related to Dyschromatosis Universalis Hereditaria:

(show all 40)
id Title Authors Year
1
A Case Report of Dyschromatosis Universalis Hereditaria (DUH) with Primary Ovarian Failure (POF). ( 27134983 )
2016
2
Dyschromatosis universalis hereditaria: report of six cases from a family. ( 28329614 )
2016
3
Abrupt onset of dyschromatosis universalis hereditaria with macromelanosomes. ( 26408469 )
2015
4
A Case of Sporadic Dyschromatosis Universalis Hereditaria. ( 26273173 )
2015
5
A case of dyschromatosis universalis hereditaria with adermatoglyphia: A rare association. ( 25821732 )
2015
6
Abrupt beginnende Dyschromatosis universalis hereditaria mit Makromelanosomen. ( 26408470 )
2015
7
Dyschromatosis Universalis Hereditaria with Oral Leukokeratosis-A Case of Mistaken Identity and Review of the Literature. ( 26269252 )
2015
8
Dyschromatosis universalis hereditaria with renal failure. ( 25969678 )
2015
9
Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria. ( 24498303 )
2014
10
Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria. ( 25288164 )
2014
11
Dyschromatosis universalis hereditaria with involvement of palms. ( 25165647 )
2014
12
Ultrastructural Investigations in an Autosomal Recessively Inherited Case of Dyschromatosis Universalis Hereditaria. ( 25474346 )
2014
13
Dyschromatosis universalis hereditaria: Infrequent genodermatoses in India. ( 24497720 )
2013
14
Dyschromatosis universalis hereditaria: a case report. ( 24320734 )
2013
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
Photoletter to the editor: Dyschromatosis universalis hereditaria: an infrequently occurring entity in Europe. ( 23091589 )
2012
18
Thrombocytopenia in dyschromatosis universalis hereditaria. ( 23086030 )
2012
19
Dyschromatosis universalis hereditaria in an African American male. ( 21906483 )
2011
20
Dyschromatosis universalis hereditaria: a case report. ( 21382285 )
2011
21
Dyschromatosis universalis hereditaria: a rare entity. ( 21810391 )
2011
22
Removal of facial and labial lentigines in dyschromatosis universalis hereditaria with a Q-switched alexandrite laser. ( 21763558 )
2011
23
Dyschromatosis universalis hereditaria in a young Nigerian female. ( 19570083 )
2009
24
Two Taiwanese siblings with dyschromatosis universalis hereditaria. ( 19538186 )
2009
25
Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23. ( 18462451 )
2008
26
Dyschromatosis universalis hereditaria: two cases. ( 18700119 )
2008
27
Tuberous sclerosis complex associated with dyschromatosis universalis hereditaria. ( 16880579 )
2006
28
Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family. ( 16684309 )
2006
29
Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis. ( 15955093 )
2005
30
Dyschromatosis universalis hereditaria: two cases in a Chinese family. ( 16045675 )
2005
31
Dowling-Degos disease with dyschromatosis universalis hereditaria-like pigmentation in a family. ( 15482301 )
2004
32
Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation. ( 14994234 )
2004
33
Dyschromatosis universalis hereditaria: report of a case and review of the literature. ( 12437556 )
2002
34
Dyschromatosis universalis hereditaria. ( 12372090 )
2002
35
Dyschromatosis universalis hereditaria. ( 20877065 )
2000
36
Dyschromatosis universalis hereditaria: a unique disorder. ( 10723761 )
2000
37
Localized form of dyschromatosis universalis hereditaria in a 14-year-old girl. ( 10515773 )
1999
38
Dyschromatosis universalis hereditaria: an electron microscopic examination. ( 9114612 )
1997
39
Dyschromatosis universalis hereditaria: report of a case. ( 1686890 )
1991
40
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 38)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 CREB1 GNA11 GNA15 KITLG MAP2K2 MAPK3
2
Show member pathways
12.94 GNA11 GNA15 KITLG MAP2K2 MAPK3
3
Show member pathways
12.92 CREB1 GNA11 GNA15 KITLG MAP2K2 MAPK3
4
Show member pathways
12.74 CREB1 GNA11 GNA15 MAP2K2 MAPK3
5
Show member pathways
12.73 CREB1 GNA11 KITLG MAP2K2 MAPK3
6
Show member pathways
12.72 CREB1 GNA11 GNA15 MAP2K2 MAPK3 POMC
7
Show member pathways
12.7 CREB1 GNA11 MAP2K2 MAPK3 SPRED1
8 12.57 GNA11 KITLG MAP2K2 MAPK3
9
Show member pathways
12.56 GNA11 GNA15 MAP2K2 MAPK3
10
Show member pathways
12.44 GNA11 GNA15 MAP2K2 MAPK3
11 12.3 CREB1 GNA11 GNA15 MAPK3
12
Show member pathways
12.24 CREB1 GNA15 MAP2K2 MAPK3
13
Show member pathways
12.04 KITLG MAP2K2 MAPK3 SPRED1
14 12.01 CREB1 MAP2K2 MAPK3
15
Show member pathways
11.96 MAP2K2 MAPK3 SPRED1
16
Show member pathways
11.88 CREB1 GNA11 GNA15 MAP2K2 MAPK3
17
Show member pathways
11.86 GNA11 GNA15 MAPK3
18
Show member pathways
11.85 CREB1 GNA11 MAP2K2 MAPK3
19
Show member pathways
11.82 GNA11 GNA15 MAP2K2 MAPK3
20 11.8 CREB1 MAP2K2 MAPK3
21 11.79 CREB1 MAP2K2 MAPK3
22
Show member pathways
11.79 CREB1 KITLG MAP2K2 MAPK3 MC1R POMC
23 11.7 CREB1 MAP2K2 MAPK3
24 11.67 CREB1 GNA11 MAPK3 POMC
25 11.6 GNA11 GNA15 KITLG MAP2K2 MAPK3
26 11.54 CREB1 KRT5 MAPK3 POMC
27 11.51 GNA11 MAP2K2 MAPK3
28 11.44 GNA11 MAP2K2 MAPK3
29 11.34 CREB1 MAP2K2 MAPK3
30 11.19 CREB1 MAP2K2 MAPK3
31 11.02 CREB1 MAPK3
32 11 MAP2K2 MAPK3
33 10.97 MAP2K2 MAPK3
34 10.94 MAP2K2 MAPK3
35 10.89 MAP2K2 MAPK3
36 10.82 CREB1 MAP2K2 MAPK3
37 10.69 CREB1 MAP2K2 MAPK3
38 10.63 CREB1 KITLG MAPK3 MC1R POMC

GO Terms for Dyschromatosis Universalis Hereditaria

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor binding GO:0001664 9.43 GNA11 GNA15 POMC
2 G-protein beta/gamma-subunit complex binding GO:0031683 9.4 GNA11 GNA15
3 guanyl nucleotide binding GO:0019001 9.37 GNA11 GNA15
4 scaffold protein binding GO:0097110 9.33 KRT5 MAP2K2 MAPK3
5 MAP kinase kinase activity GO:0004708 9.02 MAP2K2
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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