Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hyperparathyroidism, transient neonatal - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperparathyroidism, transient neonatal

MONDO:0032591

Also known as:HRPTTN

Overview

GeneticsAutosomal recessive · TRPV6 (chr 7)

ResearchLimited published research (7 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: Elevated circulating alkaline phosphatase concentration and Hyperparathyroidism; and common findings: Motor delay, Mild bone density loss (osteopenia), Polyhydramnios, and Feeding difficulties. 41 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	7	Femoral bowing, Short femur, Subperiosteal bone formation

Genetic Landscape

TRPV6 function has not been fully characterized.

Hyperparathyroidism, transient neonatal is associated with mutations in the TRPV6 gene on chromosome 7.

Diagnosis

Genetic testing for TRPV6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 4 common features.

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 hyperparathyroidism, transient neonatal.

7 publications have been identified in PubMed for hyperparathyroidism, transient neonatal. Research spans Case Report / Case Series (57%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (14%).

Recent Publications

Beyer A (2026). [PMID: 41987906](https://pubmed.ncbi.nlm.nih.gov/41987906/). *AJP Rep*. [Case Report / Case Series]
Grigore T (2026). [PMID: 41885138](https://pubmed.ncbi.nlm.nih.gov/41885138/). *Clin Endocrinol (Oxf)*. [Case Report / Case Series]
Roztoczyńska D (2026). [PMID: 42153511](https://pubmed.ncbi.nlm.nih.gov/42153511/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Lam Shang Leen J (2026). [PMID: 41522666](https://pubmed.ncbi.nlm.nih.gov/41522666/). *JBMR plus*. [Basic Science / Preclinical]
Grover A (2025). [PMID: 40057424](https://pubmed.ncbi.nlm.nih.gov/40057424/). *Best practice & research. Clinical endocrinology & metabolism*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618188

GARD

Genetic and Rare Diseases Info Center

GARD:16304

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?

← Back to All Diseases

hyperparathyroidism, transient neonatal

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features