MCID: XLN007
MIFTS: 29

X-Linked Disease malady

Genetic diseases (common) category
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Summaries for X-Linked Disease

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Wikipedia:65 Sex linkage is the phenotypic expression of an allele related to the chromosomal sex of the individual.... more...

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.

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

Aliases & Classifications for X-Linked Disease

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X-Linked Disease, Aliases & Descriptions:

Name: X-Linked Disease 8 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

Disease Ontology8 DOID:0050735

Related Diseases for X-Linked Disease

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Graphical network of 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:

32
Testes

Animal Models for X-Linked Disease or affiliated genes

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MGI Mouse Phenotypes related to X-Linked Disease:

36
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 27)
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
DNA probes and carriers of X-linked disease. (6128523)
1982
19
An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease. (7195507)
1981
20
Menkes X-linked disease: prenatal diagnosis of hemizygous males and heterozygous females. (7346814)
1981
21
Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures. (7205900)
1980
22
Menkes X linked disease: two clonal cell populations in heterozygotes. (7205901)
1980
23
Reliability of BAckAcsy threshold tracing in identification of carriers of genes for an X-linked disease with deafness. (626054)
1978
24
Stability of AMP:pyrophosphate phosphoribosyltransferase, an autosomally determined enzyme in an X-linked disease. Identification of a destabilizer. (4652560)
1972
25
Congenital adrenal hypoplasia--an X-linked disease. (5312341)
1970
26
Lyon hypothesis and x-linked disease. (4170678)
1968
27
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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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

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

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

Compounds for genes affiliated with X-Linked Disease

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Sources:
44Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1arginine449.3OTC, GLA, GJB1
2hind iii449.3OTC, IDS

GO Terms for genes affiliated with X-Linked Disease

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Cellular components related to X-Linked Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432029.6GLA, IDS

Products for genes affiliated with X-Linked Disease

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  • Antibodies
  • Proteins
  • Lysates

Sources for X-Linked Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet