MCID: DYS133
MIFTS: 21

Dyschromatosis Universalis

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Dyschromatosis Universalis

MalaCards integrated aliases for Dyschromatosis Universalis:

Name: Dyschromatosis Universalis 56 69

Characteristics:

Orphanet epidemiological data:

56
dyschromatosis universalis
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

Orphanet 56 ORPHA241
UMLS via Orphanet 70 C1306229
ICD10 via Orphanet 34 L81.8

Summaries for Dyschromatosis Universalis

MalaCards based summary : Dyschromatosis Universalis is related to dyschromatosis symmetrica hereditaria and dyschromatosis universalis hereditaria, and has symptoms including hearing impairment, cutaneous photosensitivity and hypermelanotic macule. An important gene associated with Dyschromatosis Universalis is ABCB6 (ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)). Affiliated tissues include skin.

Related Diseases for Dyschromatosis Universalis

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



Diseases related to Dyschromatosis Universalis

Symptoms & Phenotypes for Dyschromatosis Universalis

Human phenotypes related to Dyschromatosis Universalis:

56 32 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000365
2 cutaneous photosensitivity 56 32 frequent (33%) Frequent (79-30%) HP:0000992
3 hypermelanotic macule 56 32 hallmark (90%) Very frequent (99-80%) HP:0001034
4 freckling 56 32 frequent (33%) Frequent (79-30%) HP:0001480
5 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
6 spotty hypopigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0005590
7 multiple cafe-au-lait spots 56 32 frequent (33%) Frequent (79-30%) HP:0007565
8 hypopigmented skin patches 56 Very frequent (99-80%)
9 macule 56 Very frequent (99-80%)

Drugs & Therapeutics for Dyschromatosis Universalis

Search Clinical Trials , NIH Clinical Center for Dyschromatosis Universalis

Genetic Tests for Dyschromatosis Universalis

Anatomical Context for Dyschromatosis Universalis

MalaCards organs/tissues related to Dyschromatosis Universalis:

39
Skin

Publications for Dyschromatosis Universalis

Articles related to Dyschromatosis Universalis:

(show all 42)
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: autosomal dominant pattern. ( 17656873 )
2002
36
Dyschromatosis universalis hereditaria. ( 20877065 )
2000
37
Dyschromatosis universalis hereditaria: a unique disorder. ( 10723761 )
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
Dyschromatosis universalis with X-linked ocular albinism. ( 1806318 )
1991
42
Genetical studies on skin diseases. VII. Dyschromatosis universalis hereditaria in 5 generations. ( 14950856 )
1952

Variations for Dyschromatosis Universalis

Expression for Dyschromatosis Universalis

Search GEO for disease gene expression data for Dyschromatosis Universalis.

Pathways for Dyschromatosis Universalis

GO Terms for Dyschromatosis Universalis

Sources for Dyschromatosis Universalis

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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