LEP across dismech

LEP (leptin) is named by 3 disorder entries.

Causative records

All three entries type LEP as causative: Congenital Leptin Deficiency; Obesity; and Obesity Due to MC4R Pathway Disruption, and all three record the variants as germline (Congenital Leptin Deficiency; Obesity; and Obesity Due to MC4R Pathway Disruption). None of them carries a genetic record for LEP without a relationship type (0).

Congenital Leptin Deficiency is the entry dedicated to the gene. There LEP sits on the node Absent or Bioinactive Leptin, the molecular lesion from which the hypothalamic signalling failure follows. In the broader Obesity Due to MC4R Pathway Disruption entry LEP is one of the upstream genes on the shared node MC4R pathway signaling failure, and in Obesity it is placed on Hypothalamic Dysregulation.

Normal function

The ai-gene-review snapshot that this page's ingest layer is pinned to has no core functions for LEP (0 terms). A full LEP review, giving hormone activity and leptin receptor binding acting in the leptin-mediated signaling pathway and the leptin-mediated suppression of appetite, has since been written upstream and will appear here when the ingest layer is refreshed.

Where the layers disagree

ClinGen has classified LEP for 0 diseases, so none of the causative typings above can be cross-checked against a ClinGen tier.

Because the pinned review has no core functions, the KB and ai-gene-review currently share 0 GO process terms for LEP. The nodes that name LEP are annotated with adenylate cyclase-activating G protein-coupled receptor signaling pathway; and feeding behavior. Neither is a leptin-specific process: in Congenital Leptin Deficiency the leptin-mediated signaling pathway is annotated on a downstream node that does not name the gene.