congenital leptin deficiency

Term ID

DOID:0111334

Synonyms

• LEPD
• leptin deficiency or dysfunction
• obesity due to congenital leptin deficiency

Definition

A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1. https://www.ncbi.nlm.nih.gov/pubmed/10523015

References

• OMIM:614962
• ORDO:66628

Ontology

Human Disease   ( DOID:0111334 )