SXI1
MCID: XNC004
MIFTS: 14

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 58 30 6 74
X-Inactivation, Familial Skewed 58 13
X Inactivation, Familial Skewed, Type 1 41
Sxi1 58

Classifications:



External Ids:

OMIM 58 300087
MedGen 43 C1848138
SNOMED-CT via HPO 70 17369002
UMLS 74 C1848138

Summaries for X Inactivation, Familial Skewed, 1

OMIM : 58 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 11.2

Symptoms & Phenotypes for X Inactivation, Familial Skewed, 1

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

33
# Description HPO Frequency HPO Source Accession
1 spontaneous abortion 33 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 30 XIST

Anatomical Context for X Inactivation, Familial Skewed, 1

Publications for X Inactivation, Familial Skewed, 1

Variations for X Inactivation, Familial Skewed, 1

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 XIST XIST, C-G, -43 single nucleotide variant Pathogenic

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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