SXI2
MCID: XNC002
MIFTS: 12

X Inactivation, Familial Skewed, 2 (SXI2)

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 57 29 13 70
X Inactivation, Familial Skewed, Type 2 39
Sxi2 57

Classifications:



External Ids:

OMIM® 57 300179
UMLS 70 C1846257

Summaries for X Inactivation, Familial Skewed, 2

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : X Inactivation, Familial Skewed, 2, is also known as x inactivation, familial skewed, type 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, 1 family:

X Inactivation, Familial Skewed, 2

Symptoms & Phenotypes for X Inactivation, Familial Skewed, 2

Clinical features from OMIM®:

300179 (Updated 20-May-2021)

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:

# 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

Articles related to X Inactivation, Familial Skewed, 2:

# Title Authors PMID Year
1
Familial skewed X-chromosome inactivation linked to a component of the cohesin complex, SA2. 57
21412246 2011
2
Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females. 57
17342157 2007
3
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 57
16955230 2006
4
Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human. 57
9887372 1998
5
Genetic control of X inactivation and processes leading to X-inactivation skewing. 57
8651285 1996
6
The Pheromone and Pheromone Receptor Mating-Type Locus Is Involved in Controlling Uniparental Mitochondrial Inheritance in Cryptococcus. 61
31888949 2020
7
Multigene assessment of the species boundaries and sexual status of the basidiomycetous yeasts Cryptococcus flavescens and C. terrestris (Tremellales). 61
25811603 2015
8
Molecular and genetic evidence for a tetrapolar mating system in the basidiomycetous yeast Kwoniella mangrovensis and two novel sibling species. 61
23524993 2013
9
The mating type locus (MAT) and sexual reproduction of Cryptococcus heveanensis: insights into the evolution of sex and sex-determining chromosomal regions in fungi. 61
20502678 2010

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....