Disorder "Short Stature Homeobox Deficiency"
Found 1 record
Disorder information
Disorder name:
Short Stature Homeobox Deficiency
Disoder ID:
Synonyms:
SHOX Deficiency, Short Stature Homeobox Deficiency
Definition:
A rare genetic deficiency characterized by mutations in the SHOX gene and reduced expression or function of the SHOX protein. It results in the disruption of normal bone development and growth starting before birth. It manifests with skeletal abnormalities and short stature.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered SHOX expression(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| CYP26C1 | CYP26C1:rs200442762 | Expressivity | Altered SHOX expression | Pedigree analysis and gene activity study | CYP26C1 is a genetic modifier in SHOX deficiencymore | more |
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