permanent neonatal diabetes mellitus 1
MONDO:0100165Mondo
Findings
No curated finding names permanent neonatal diabetes mellitus 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
7 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.
- Intrauterine growth retardationHPOHP:0001511
- 3 of 3 reported patients
- Small for gestational ageHPOHP:0001518
- 3 of 3 reported patients
- Type I diabetes mellitusHPOHP:0100651
- 3 of 3 reported patients · Neonatal onset
- Decreased circulating C-peptide concentrationHPOHP:0030795
- Diabetes mellitusHPOHP:0000819
- Neonatal onset
- Elevated hemoglobin A1cHPOHP:0040217
- HyperglycemiaHPOHP:0003074
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.
- GCKHGNC:4195
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022
Where it sits
Other names
2 names
Resolves to: permanent neonatal diabetes mellitus 1
- Also called
- diabetes mellitus, permanent neonatal 1PNDM1