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proprotein convertase 1/3 deficiency
Summary
- Synonym
-
- PCI deficiency
- obesity and endocrinopathy due to impaired processing of prohormones
- obesity due to prohormone convertase I deficiency
- obesity with impaired prohormone processing
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111698
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
