X INACTIVATION, FAMILIAL SKEWED, 1

General Information (adopted from Orphanet):

Synonyms, Signs: SXI1
Number of Symptoms 1
OrphanetNr:
OMIM Id: 300087
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005268) Spontaneous abortion 15 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Pegoraro et al. (1997) reported a family ascertained for molecular diagnosis of muscular dystrophy in a young girl, in which preferential activation (greater than 95% of cells) of the paternal X chromosome was seen in both the proband ...
Molecular genetics OMIM Plenge et al. (1997) identified a mutation in the promoter region of the XIST gene (314670.0001) in multiple females in a family reported by Rupert et al. (1995) as showing nonrandom X-chromosome inactivation.