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IEMbase 0573: HNF1A-related MODY3 with hyperinsulinism

Scope

Field Value
IEMbase ID 573
Nosology 24.1.06.01
Gene HNF1A
External IDs OMIM:142410; ORPHA:552
Generated mapping UNMAPPED
Candidate DisMech targets Congenital_Isolated_Hyperinsulinism.yaml#HNF4A/HNF1A-HI; Diabetes_Mellitus.yaml#HNF1A
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents HNF1A-related MODY3. The record is autosomal dominant, idiopathic subtype, of unknown treatability, and has no treatment rows.

Biochemical rows include decreased free fatty acids during hypoglycemia, decreased ketones during hypoglycemia, low plasma glucose, and increased insulin during hypoglycemia. Characteristic rows include MODY3 diabetes, hyperinsulinism, and hypoketotic hypoglycemia.

DisMech phenotype coverage

Congenital_Isolated_Hyperinsulinism.yaml contains a combined HNF4A/HNF1A transcription-factor hyperinsulinism subtype, describing hyperinsulinism in the newborn period followed by MODY later in life. Diabetes_Mellitus.yaml includes HNF1A as a causative monogenic diabetes gene and explicitly notes MODY3 context. There is no standalone HNF1A/MODY3 disease entry.

Concordance and completeness

Judgement: generated false negative to local partial coverage; resolve the hyperinsulinism aspect to Congenital_Isolated_Hyperinsulinism.yaml#HNF4A/HNF1A-HI and the diabetes aspect to Diabetes_Mellitus.yaml#HNF1A.

IEMbase agrees with local CHI context on HNF1A-related hyperinsulinism, hypoketotic hypoglycemia, low glucose, and suppressed ketone/free-fatty-acid signals. It agrees with the broad diabetes entry on HNF1A/MODY3 monogenic diabetes. The missing local content is a standalone HNF1A/MODY3 subtype entry that unifies both signals.

Curation actions

  • Promote this record to the HNF4A/HNF1A transcription-factor hyperinsulinism context in Congenital_Isolated_Hyperinsulinism.yaml.
  • Retain Diabetes_Mellitus.yaml#HNF1A as monogenic-diabetes context.
  • Consider a future HNF1A/MODY3-specific entry or subtype if DisMech wants gene-specific MODY coverage outside broad diabetes.