SXI1
MCID: XNC004
MIFTS: 17

X Inactivation, Familial Skewed, 1 (SXI1)

Categories: Genetic diseases

Aliases & Classifications for X Inactivation, Familial Skewed, 1

MalaCards integrated aliases for X Inactivation, Familial Skewed, 1:

Name: X Inactivation, Familial Skewed, 1 56 29 6 71
X-Inactivation, Familial Skewed 56 13
X Inactivation, Familial Skewed, Type 1 39
Sxi1 56

Classifications:



External Ids:

OMIM 56 300087
MedGen 41 C1848138
SNOMED-CT via HPO 68 17369002
UMLS 71 C1848138

Summaries for X Inactivation, Familial Skewed, 1

OMIM : 56 In mammals, the potential imbalance of gene expression for the two X chromosomes in females is resolved by inactivating one X in all somatic tissues. In the embryo proper, the process of X inactivation is considered 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. (300087)

MalaCards based summary : X Inactivation, Familial Skewed, 1, also known as x-inactivation, familial skewed, is related to x inactivation, familial skewed, 2. An important gene associated with X Inactivation, Familial Skewed, 1 is XIC (X Chromosome Inactivation Center). Related phenotype is spontaneous abortion.

Related Diseases for X Inactivation, Familial Skewed, 1

Diseases in the X Inactivation, Familial Skewed, 1 family:

X Inactivation, Familial Skewed, 2

Diseases related to X Inactivation, Familial Skewed, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 x inactivation, familial skewed, 2 11.3

Symptoms & Phenotypes for X Inactivation, Familial Skewed, 1

Human phenotypes related to X Inactivation, Familial Skewed, 1:

31
# Description HPO Frequency HPO Source Accession
1 spontaneous abortion 31 HP:0005268

Clinical features from OMIM:

300087

Drugs & Therapeutics for X Inactivation, Familial Skewed, 1

Search Clinical Trials , NIH Clinical Center for X Inactivation, Familial Skewed, 1

Genetic Tests for X Inactivation, Familial Skewed, 1

Genetic tests related to X Inactivation, Familial Skewed, 1:

# Genetic test Affiliating Genes
1 X Inactivation, Familial Skewed, 1 29 XIST

Anatomical Context for X Inactivation, Familial Skewed, 1

Publications for X Inactivation, Familial Skewed, 1

Articles related to X Inactivation, Familial Skewed, 1:

(show all 19)
# Title Authors PMID Year
1
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. 6 56
9354806 1997
2
Direct detection of non-random X chromosome inactivation by use of a transcribed polymorphism in the XIST gene. 6 56
8825575 1995
3
Skewed X chromosome inactivation and trisomic spontaneous abortion: no association. 56
19646676 2009
4
Extremely skewed X-chromosome inactivation is increased in women with recurrent spontaneous abortion. 56
10441596 1999
5
Sex Chromosome Genetics '99. The X chromosome and recurrent spontaneous abortion: the significance of transmanifesting carriers. 56
10090877 1999
6
X-linked Wiskott-Aldrich syndrome in a girl. 56
9445409 1998
7
X inactivation in females with X-linked disease. 56
9445416 1998
8
Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28. 56
9245997 1997
9
Genetic control of X inactivation and processes leading to X-inactivation skewing. 56
8651285 1996
10
Heritability of X chromosome--inactivation phenotype in a large family. 56
8651287 1996
11
X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. 56
7635465 1995
12
Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. 56
8198142 1994
13
The Pheromone and Pheromone Receptor Mating-Type Locus Is Involved in Controlling Uniparental Mitochondrial Inheritance in Cryptococcus. 61
31888949 2020
14
Deletion of the sex-determining gene SXI1α enhances the spread of mitochondrial introns in Cryptococcus neoformans. 61
30026817 2018
15
Multigene assessment of the species boundaries and sexual status of the basidiomycetous yeasts Cryptococcus flavescens and C. terrestris (Tremellales). 61
25811603 2015
16
Molecular and genetic evidence for a tetrapolar mating system in the basidiomycetous yeast Kwoniella mangrovensis and two novel sibling species. 61
23524993 2013
17
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
18
alpha AD alpha hybrids of Cryptococcus neoformans: evidence of same-sex mating in nature and hybrid fitness. 61
17953489 2007
19
The mating type-specific homeodomain genes SXI1 alpha and SXI2a coordinately control uniparental mitochondrial inheritance in Cryptococcus neoformans. 61
17186242 2007

Variations for X Inactivation, Familial Skewed, 1

ClinVar genetic disease variations for X Inactivation, Familial Skewed, 1:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 XIST XIST, C-G, -43SNV Pathogenic 9779

Expression for X Inactivation, Familial Skewed, 1

Search GEO for disease gene expression data for X Inactivation, Familial Skewed, 1.

Pathways for X Inactivation, Familial Skewed, 1

GO Terms for X Inactivation, Familial Skewed, 1

Sources for X Inactivation, Familial Skewed, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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