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neonatal severe primary hyperparathyroidism (NSHPT) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neonatal severe primary hyperparathyroidism

MONDO:0009397

Also known as:NSHPThyperparathyroidism, neonatalNsph

Find Clinical TrialsTrials

Overview

Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.

GeneticsAutosomal recessive, Autosomal dominant · CASR (chr 3)

Clinical Trials1 registered

ResearchLimited published research (6 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: Aminoaciduria, Low muscle tone (hypotonia), Enlarged liver (hepatomegaly), and Generalized hypotonia and 19 more.

Organ System	Phenotype Count	Example Features
Digestive system	4	Enlarged liver (hepatomegaly), Feeding difficulties in infancy, Constipation

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.

CASR encodes calcium sensing receptor (1,078 aa). G-protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis. Highest expression in Kidney Medulla (18.1 TPM) and Pancreas (3.5 TPM).

Neonatal severe primary hyperparathyroidism is caused by mutations in the CASR gene on chromosome 3.

The CASR protein participates in CASR:CASR agonists pathway.

CASR is classified as a druggable target (Cell Surface, Clinically Actionable, Druggable Genome, and G Protein Coupled Receptor categories) with score 6.1.

Diagnosis

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

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

6 publications have been identified in PubMed for neonatal severe primary hyperparathyroidism. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (33%), and Gene Therapy / Novel Therapeutics (17%).

Recent Publications

Tao X (2026). [PMID: 41852233](https://pubmed.ncbi.nlm.nih.gov/41852233/). *The Journal of international medical research*. [Case Report / Case Series]
Roztoczyńska D (2026). [PMID: 42153511](https://pubmed.ncbi.nlm.nih.gov/42153511/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Donbaloglu Z (2025). [PMID: 39840426](https://pubmed.ncbi.nlm.nih.gov/39840426/). *Journal of pediatric endocrinology & metabolism : JPEM*. [Case Report / Case Series]
Marini F (2025). [PMID: 39939267](https://pubmed.ncbi.nlm.nih.gov/39939267/). *Best practice & research. Clinical endocrinology & metabolism*. [Review / Meta-Analysis]

Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 5:31 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:239200

Orphanet

European rare disease database

Orphanet:417

GARD

Genetic and Rare Diseases Info Center

GARD:2838

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→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 severe primary hyperparathyroidism

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

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