MCID: XNC004
MIFTS: 14

X Inactivation, Familial Skewed, 1

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 57 29 6 73
X-Inactivation, Familial Skewed 57 13
X Inactivation, Familial Skewed, Type 1 40
Sxi1 57

Classifications:



External Ids:

OMIM 57 300087
MedGen 42 C1848138
SNOMED-CT via HPO 69 17369002
UMLS 73 C1848138

Summaries for X Inactivation, Familial Skewed, 1

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 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 11.0

Symptoms & Phenotypes for X Inactivation, Familial Skewed, 1

Clinical features from OMIM:

300087

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

32
# Description HPO Frequency HPO Source Accession
1 spontaneous abortion 32 HP:0005268

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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