neonatal diabetes mellitus with congenital hypothyroidism
Findings
No curated finding names neonatal diabetes mellitus with congenital hypothyroidism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others
Definition from the Mondo Disease Ontology (MONDO:0012436), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
12 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.
- Congenital hypothyroidismHPOHP:0000851
- 6 of 6 reported patients · Neonatal onset
- Decreased circulating T4 concentrationHPOHP:0031507
- 3 of 3 reported patients
- Diabetes mellitusHPOHP:0000819
- 6 of 6 reported patients · Neonatal onset
- Elevated circulating thyroglobulin concentrationHPOHP:0025484
- 3 of 3 reported patients
- Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925
- 6 of 6 reported patients
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.
- GLIS3HGNC:28510
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Ambry Genetics · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- IL2RAHGNC:6008
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: neonatal diabetes mellitus with congenital hypothyroidism
- Also called
- NDH syndrome