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GTR Home > Conditions/Phenotypes > Obesity due to prohormone convertase I deficiency

Obesity due to prohormone convertase I deficiency

Synonyms
OBESITY AND ENDOCRINOPATHY DUE TO IMPAIRED PROCESSING OF PROHORMONES; Proprotein Convertase-1 Deficiency; Proprotein convertase 1/3 deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Proprotein convertase-1/3 deficiency is an autosomal recessive disorder characterized by neonatal severe generalized malabsorptive diarrhea and failure to thrive. As the disease progresses, additional endocrine abnormalities develop, including diabetes insipidus, growth hormone deficiency, primary hypogonadism, adrenal insufficiency, and hypothyroidism (summary by Wilschanski et al., 2014). [from OMIM]

Available tests

28 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BMIQ12, NEC1, PC1, PC1/3, PC3, SPC3, PCSK1
    Summary: proprotein convertase subtilisin/kexin type 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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