Donohue syndrome
Findings
No curated finding names Donohue syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation.
Definition from the Mondo Disease Ontology (MONDO:0009517), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
61 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Clitoral hypertrophyHPOHP:0008665
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- 3 of 3 reported patients
- Conjugated hyperbilirubinemiaHPOHP:0002908
- 3 of 3 reported patients
- Elevated circulating C-peptide concentrationHPOHP:0030796
- 2 of 2 reported patients
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 3 of 3 reported patients
- Failure to thriveHPOHP:0001508
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 49
- Left ventricular hypertrophyHPOHP:0001712
- 3 of 3 reported patients
- Medullary nephrocalcinosisHPOHP:0012408
- 1 of 1 reported patient
- Ovarian cystHPOHP:0000138
- 1 of 1 reported patient
- PolyhydramniosHPOHP:0001561
- 1 of 1 reported patient
- Postnatal growth retardationHPOHP:0008897
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Prominent nipplesHPOHP:0004405
- 3 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- INSRHGNC:6091
- Definitive · G2P · Autosomal recessive · 2019
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: Donohue syndrome
- Also called
- Leprechaunism