MCID: XLN007
MIFTS: 25

X-Linked Disease malady

Summaries for X-Linked Disease

Sources:
8Disease Ontology, 64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:64 Sex linkage is the phenotypic expression of an allele related to the chromosomal sex of the individual.... more...

MalaCards: X-Linked Disease is related to menkes disease and barth syndrome. An important gene associated with X-Linked Disease is TIMM8A (translocase of inner mitochondrial membrane 8 homolog A (yeast)). The compounds acetyl-l-carnitine and hind iii have been mentioned in the context of this disorder. Related mouse phenotypes are growth/size and nervous system.

Disease Ontology:8 A monogenic disease that has material basis in muations on the x chromosome.

Aliases & Classifications for X-Linked Disease

Sources:
8Disease Ontology, 10DISEASES
See all sources

Aliases & Descriptions:

x-linked disease 8 10


External Ids:

Disease Ontology8 DOID:0050735

Related Diseases for X-Linked Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to X-Linked Disease:



Diseases related to x-linked disease

Clinical Features for X-Linked Disease

Drugs & Therapeutics for X-Linked Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for X-Linked Disease

Drug clinical trials:

Search ClinicalTrials for X-Linked Disease

Search NIH Clinical Center for X-Linked Disease

Search CenterWatch for X-Linked Disease

Genetic Tests for X-Linked Disease

Anatomical Context for X-Linked Disease

Animal Models for X-Linked Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to X-Linked Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.9GJB1, ZFX, CHM, AFF2, PDHA1, IDS
2MP:00036317.4IDS, OTC, SLC16A2, GJB1, ZFX, CHM
3MP:00107687.1F9, IDS, PDHA1, AFF2, CHM, ZFX

Publications for X-Linked Disease

Sources:
51PubMed
See all sources

Articles related to X-Linked Disease:

(show all 12)
idTitleAuthorsYear
1
Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease. (20809529)
2010
2
XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. (20489057)
2010
3
A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency. (19288545)
2009
4
Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3. (17653054)
2007
5
Simian immunodeficiency virus lentivector corrects human X-linked chronic granulomatous disease in the NOD/SCID mouse xenograft. (17728796)
2007
6
Large-scale analysis of sequence tags in Xp11.4-11.3 and evaluation of candidate genes for X-linked ocular diseases. (14564067)
2001
7
Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1. (10334471)
1999
8
Transcription map of Xq27: candidates for several X-linked diseases. (10198160)
1999
9
Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2. (1379090)
1992
10
Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3. (1969135)
1990
11
Mapping X-linked ophthalmic diseases. III. Provisional assignment of the locus for blue cone monochromacy to Xq28. (2888453)
1987
12
Mapping X-linked ophthalmic diseases. Provisional assignment of the locus for choroideremia to Xq13-q24. (4034175)
1985

Genetic Variations for X-Linked Disease

Expression for genes affiliated with X-Linked Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with X-Linked Disease

Search GEO for disease gene expression data for X-Linked Disease.

Pathways for genes affiliated with X-Linked Disease

Compounds for genes affiliated with X-Linked Disease

Sources:
45Novoseek, 11DrugBank, 24HMDB, 2BitterDB
See all sources

Compounds related to X-Linked Disease according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1acetyl-l-carnitine4510.1OTC, PDHA1
2hind iii4510.0OTC, IDS
3bamhi459.9F9, OTC
4Pyruvic acid11 2410.8SLC16A2, PDHA1
5gamma-carboxyglutamic acid459.8F9, GLA
6dextran459.7GLA, F9
7chloramphenicol45 2 1111.4PDHA1, F9, OTC
8dermatan sulfate459.3F9, IDS
9glutamate459.0OTC, GLA, F9, GJB1
10cysteine458.9F9, IDS, PDHA1, CHM, GJB1
11arginine458.9OTC, GJB1, GLA, F9

GO Terms for genes affiliated with X-Linked Disease

Products for genes affiliated with X-Linked Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet