MCID: XLN007
MIFTS: 23

X-Linked Disease malady

Summaries for X-Linked Disease

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Disease Ontology:9 A monogenic disease that has material basis in muations in genes on the x chromosome.

MalaCards based summary: X-Linked Disease is related to charcot-marie-tooth disease and blindness. An important gene associated with X-Linked Disease is TIMM8A (translocase of inner mitochondrial membrane 8 homolog A (yeast)), and among its related pathways is Lysosome. The compounds arginine and hind iii have been mentioned in the context of this disorder. Affiliated tissues include testes, and related mouse phenotypes are integument and behavior/neurological.

Aliases & Classifications for X-Linked Disease

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X-Linked Disease, Aliases & Descriptions:

Name: X-Linked Disease 9 11


External Ids:

Disease Ontology9 DOID:0050735

Related Diseases for X-Linked Disease

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



Diseases related to x-linked disease

Symptoms for X-Linked Disease

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Drugs & Therapeutics for X-Linked Disease

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Drug clinical trials:

Search ClinicalTrials for X-Linked Disease

Search NIH Clinical Center for X-Linked Disease

Genetic Tests for X-Linked Disease

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Anatomical Context for X-Linked Disease

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MalaCards organs/tissues related to X-Linked Disease:

31
Testes

Animal Models for X-Linked Disease or affiliated genes

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MGI Mouse Phenotypes related to X-Linked Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5OTC, SLC16A2, AFF2, IDS
2MP:00053868.2IDS, AFF2, GJB1, GLA, OTC
3MP:00053787.9IDS, AFF2, ZFX, CHM, GJB1, OTC
4MP:00053877.9IDS, ZFX, GLA, SLC16A2, OTC
5MP:00107687.8IDS, AFF2, ZFX, CHM, GJB1, OTC
6MP:00036317.4OTC, IDS, AFF2, ZFX, CHM, GJB1

Publications for X-Linked Disease

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Articles related to X-Linked Disease:

(show all 28)
idTitleAuthorsYear
1
Disease genetics: Zebrafish models ultra-rare X-linked disease. (25352305)
2014
2
General aspects of X-linked diseases (21290690)
2006
3
A new assay for the analysis of X-chromosome inactivation in carriers with an X-linked disease. (11738868)
2001
4
A phenotype map of the mouse X chromosome: models for human X-linked disease. (10720569)
2000
5
Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease. (10646523)
2000
6
Transcription map of Xq27: candidates for several X-linked diseases. (10198160)
1999
7
X inactivation in females with X-linked disease. (9445416)
1998
8
Cell recycling of a single human cell for preimplantation diagnosis of X-linked disease and dual sex determination. (9238693)
1996
9
Identifying the sex of human preimplantation embryos in X-linked disease: amplification efficiency of a Y-specific alphoid repeat from single blastomeres with two lysis protocols. (8688584)
1996
10
DNA-based X-enriched sperm separation as an adjunct to preimplantation genetic testing for the prevention of X-linked disease. (7650159)
1995
11
Preimplantation prevention of X-linked disease: reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences. (8401500)
1993
12
X chromosome inactivation and the diagnosis of X linked disease in females. (8097254)
1993
13
Female infant affected with an X-linked disease. (1919906)
1991
14
Exclusion mapping of 12 X-linked disease loci and 10 DNA probes from the long arm of the X-chromosome. (1976460)
1990
15
Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency. (2298453)
1990
16
Comparison of direct and indirect methods of carrier detection in an X-linked disease. (1970704)
1990
17
DNA probes in X-linked disease. (6129448)
1983
18
Menkes' X-linked disease: prenatal diagnosis and carrier detection. (6413776)
1983
19
DNA probes and carriers of X-linked disease. (6128523)
1982
20
An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease. (7195507)
1981
21
Menkes X-linked disease: prenatal diagnosis of hemizygous males and heterozygous females. (7346814)
1981
22
Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures. (7205900)
1980
23
Menkes X linked disease: two clonal cell populations in heterozygotes. (7205901)
1980
24
Reliability of BAckAcsy threshold tracing in identification of carriers of genes for an X-linked disease with deafness. (626054)
1978
25
Stability of AMP:pyrophosphate phosphoribosyltransferase, an autosomally determined enzyme in an X-linked disease. Identification of a destabilizer. (4652560)
1972
26
Congenital adrenal hypoplasia--an X-linked disease. (5312341)
1970
27
Lyon hypothesis and x-linked disease. (4170678)
1968
28
Biochemical diagnosis of an X-linked disease in utero. (4174524)
1968

Variations for X-Linked Disease

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Expression for genes affiliated with X-Linked Disease

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

Pathways for genes affiliated with X-Linked Disease

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Pathways related to X-Linked Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6GLA, IDS

Compounds for genes affiliated with X-Linked Disease

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Sources:
43Novoseek
See all sources

Compounds related to X-Linked Disease according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1arginine439.3OTC, GLA, GJB1
2hind iii439.3OTC, IDS

GO Terms for genes affiliated with X-Linked Disease

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Cellular components related to X-Linked Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432029.6GLA, IDS

Products for genes affiliated with X-Linked Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for X-Linked Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet