MCID: XNC002
MIFTS: 9

X Inactivation, Familial Skewed, 2

Categories: Genetic diseases

Aliases & Classifications for X Inactivation, Familial Skewed, 2

MalaCards integrated aliases for X Inactivation, Familial Skewed, 2:

Name: X Inactivation, Familial Skewed, 2 54 29 13

Classifications:



External Ids:

OMIM 54 300179

Summaries for X Inactivation, Familial Skewed, 2

OMIM : 54
In mammals, the potential imbalance of gene expression for the two X chromosomes in females is resolved by inactivating one X in all the somatic tissues. In the embryo proper, the process of X inactivation is believed to be random between the maternal and paternal chromosomes. Thus, most females have mosaic expression of maternal and paternal alleles of X chromosome loci, with a contribution of about 50% from each chromosome. However, some females show a skewed ratio of X inactivation, which can be due to negative or positive selection, or to an underlying primary genetic process. Belmont (1996) observed familial clustering of females with highly skewed patterns of X inactivation and reviewed the genetic control of X inactivation. See also SXI1 (300087), due to mutation in the XIST gene (314670) on chromosome Xq13.2. (300179)

MalaCards based summary : X Inactivation, Familial Skewed, 2 An important gene associated with X Inactivation, Familial Skewed, 2 is SXI2 (X Inactivation, Familial Skewed, 2).

Related Diseases for X Inactivation, Familial Skewed, 2

Diseases in the X-Inactivation, Familial Skewed family:

X Inactivation, Familial Skewed, 2

Symptoms & Phenotypes for X Inactivation, Familial Skewed, 2

Clinical features from OMIM:

300179

Drugs & Therapeutics for X Inactivation, Familial Skewed, 2

Search Clinical Trials , NIH Clinical Center for X Inactivation, Familial Skewed, 2

Genetic Tests for X Inactivation, Familial Skewed, 2

Genetic tests related to X Inactivation, Familial Skewed, 2:

id Genetic test Affiliating Genes
1 X Inactivation, Familial Skewed, 2 29

Anatomical Context for X Inactivation, Familial Skewed, 2

Publications for X Inactivation, Familial Skewed, 2

Variations for X Inactivation, Familial Skewed, 2

Expression for X Inactivation, Familial Skewed, 2

Search GEO for disease gene expression data for X Inactivation, Familial Skewed, 2.

Pathways for X Inactivation, Familial Skewed, 2

GO Terms for X Inactivation, Familial Skewed, 2

Sources for X Inactivation, Familial Skewed, 2

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