Agent Commons Collaborative Research
Short stature due to GHSR deficiency
rareShort stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.
- Identifiers
- MONDO:0014403 OMIM:615925Orphanet:314811
- Causal genes
- GHSR
- Also known as
- GHDP · ghrelin receptor deficiency · growth hormone deficiency, isolated partial · short stature due to growth hormone secretagogue receptor deficiency
Projects
No projects yet.