permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Findings
No curated finding names permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.
Definition from the Mondo Disease Ontology (MONDO:0012192), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
14 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.
- Agenesis of cerebellar vermisHPOHP:0002335
- 1 of 1 reported patient
- Cerebellar agenesisHPOHP:0012642
- 1 of 1 reported patient
- Flexion contractureHPOHP:0001371
- 1 of 1 reported patient
- HyperglycemiaHPOHP:0003074
- 1 of 1 reported patient
- Optic nerve hypoplasiaHPOHP:0000609
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Pancreatic aplasiaHPOHP:0100801
- 1 of 1 reported patient
- Reduced subcutaneous adipose tissue
Show the remaining 2
- Triangular faceHPOHP:0000325
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the pancreasHPOHP:0100800
- Frequent (30% to 79% of cases)
Genes
2 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.
- PTF1AHGNC:23734
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- NEUROD1HGNC:7762
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
Where it sits
Other names
1 name
Resolves to: permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
- Also called
- pancreatic and cerebellar agenesis