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neonatal diabetes mellitus with congenital hypothyroidism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neonatal diabetes mellitus with congenital hypothyroidism

MONDO:0012436

Also known as:NDH syndromeNDHdiabetes mellitus, neonatal, with congenital hypothyroidism

Overview

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

GeneticsAutosomal recessive · GLIS3 (chr 9)

OnsetNEONATAL

ResearchLimited published research (9 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Increased circulating thyroglobulin concentration, Decreased circulating T4 concentration, Diabetes mellitus, and Congenital hypothyroidism and others; and common findings: Mild intellectual disability, Liver scarring (fibrosis) (hepatic fibrosis), Portal hypertension, and Buphthalmos and others. 37 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	8

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GLIS3 encodes GLIS family zinc finger 3 (775 aa). Acts both as a repressor and an activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3' Highest expression in Thyroid (13.1 TPM) and Ovary (9.0 TPM).

Neonatal diabetes mellitus with congenital hypothyroidism is associated with mutations in the GLIS3 gene on chromosome 9.

GLIS3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for GLIS3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neonatal diabetes mellitus with congenital hypothyroidism.

9 publications have been identified in PubMed for neonatal diabetes mellitus with congenital hypothyroidism. Research spans Case Report / Case Series (44%), Epidemiology / Natural History (33%), and Review / Meta-Analysis (22%).

Recent Publications

Bu W (2026). [PMID: 41517795](https://pubmed.ncbi.nlm.nih.gov/41517795/). *Medicine*. [Case Report / Case Series]
Medina D (2025). [PMID: 41060163](https://pubmed.ncbi.nlm.nih.gov/41060163/). *Biomedica : revista del Instituto Nacional de Salud*. [Case Report / Case Series]
Gobble MRS (2025). [PMID: 40128490](https://pubmed.ncbi.nlm.nih.gov/40128490/). *Current diabetes reports*. [Review / Meta-Analysis]
Prinz J (2025). [PMID: 41106397](https://pubmed.ncbi.nlm.nih.gov/41106397/). *Klinische Monatsblatter fur Augenheilkunde*. [Case Report / Case Series]
Almhmoudi F (2025). [PMID: 40583116](https://pubmed.ncbi.nlm.nih.gov/40583116/). *Ophthalmic genetics*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610199

Orphanet

European rare disease database

Orphanet:79118

GARD

Genetic and Rare Diseases Info Center

GARD:16699

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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neonatal diabetes mellitus with congenital hypothyroidism

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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