permanent neonatal diabetes mellitus
Findings
No curated finding names permanent neonatal diabetes mellitus yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.
Definition from the Mondo Disease Ontology (MONDO:0100164), read 2026-09-29. CC BY 4.0.
Features
34 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.
- DehydrationHPOHP:0001944
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- GlycosuriaHPOHP:0003076
- Very frequent (80% to 99% of cases)
- HyperglycemiaHPOHP:0003074
- Very frequent (80% to 99% of cases)
- HypovolemiaHPOHP:0011106
- Very frequent (80% to 99% of cases)
- Neonatal insulin-dependent diabetes mellitusHPOHP:0000857
- Very frequent (80% to 99% of cases)
- Reduced pancreatic beta cellsHPOHP:0006274
- Very frequent (80% to 99% of cases)
- Weight lossHPOHP:0001824
- Very frequent (80% to 99% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Frequent (30% to 79% of cases)
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Frequent (30% to 79% of cases)
- Bilateral ptosisHPOHP:0001488
- Frequent (30% to 79% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Frequent (30% to 79% of cases)
Reported absent (1)
- Autoimmune antibody positivityHPOHP:0030057
Show the remaining 22
- Downturned corners of mouthHPOHP:0002714
- Frequent (30% to 79% of cases)
- Generalized myoclonic seizureHPOHP:0002123
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- KetonuriaHPOHP:0002919
- Frequent (30% to 79% of cases)
Genes
12 genes
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.
- ABCC8HGNC:59
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- GATA4HGNC:4173
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- HNF1BHGNC:11630
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- INSHGNC:6081
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- MNX1HGNC:4979
Where it sits
Other names
2 names
Resolves to: permanent neonatal diabetes mellitus
- Also called
- monogenic diabetes of infancyPNDM