| Metadata | |
|---|---|
| ID | DOID:0111698 |
| Name | proprotein convertase 1/3 deficiency |
| Definition | A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15. https://www.ncbi.nlm.nih.gov/pubmed/14617756, https://www.ncbi.nlm.nih.gov/pubmed/7477119, https://www.ncbi.nlm.nih.gov/pubmed/9207799 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
obesity and endocrinopathy due to impaired processing of prohormones [EXACT] obesity due to prohormone convertase I deficiency [EXACT] obesity with impaired prohormone processing [EXACT] PCI deficiency [EXACT] |
| Parent Relationships |
is_a syndrome |