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pseudohypoparathyroidism type 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pseudohypoparathyroidism type 2

MONDO:0008749

Also known as:PHP IIPHP2Php 2

Overview

Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response.

GeneticsSporadic (not inherited)

ResearchLimited published research (7 articles)

Clinical Presentation

Features include: Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, and Pseudohypoparathyroidism.

Organ System	Phenotype Count	Example Features
Lab test results	1	Elevated circulating parathyroid hormone level

Explore clinical features

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.

No clinical trials have been registered for pseudohypoparathyroidism type 2.

10 publications have been identified in PubMed for pseudohypoparathyroidism type 2. Kisho has analyzed 7 by research type. Research spans Case Report / Case Series (43%), Epidemiology / Natural History (43%), and Basic Science / Preclinical (14%).

Recent Publications

Zhao XM (2026). [PMID: 41968081](https://pubmed.ncbi.nlm.nih.gov/41968081/). *J Int Med Res*. [Case Report / Case Series]
Ebrahim R (2025). [PMID: 41170251](https://pubmed.ncbi.nlm.nih.gov/41170251/). *Cureus*. [Case Report / Case Series]
Valverde HA (2025). [PMID: 41181283](https://pubmed.ncbi.nlm.nih.gov/41181283/). *Acta Med Philipp*. [Epidemiology / Natural History]
Saxena A (2025). [PMID: 40876471](https://pubmed.ncbi.nlm.nih.gov/40876471/). *Lancet Public Health*. [Epidemiology / Natural History]
Samaan F (2024). [PMID: 39494215](https://pubmed.ncbi.nlm.nih.gov/39494215/). *Int J Nephrol*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:203330

Orphanet

European rare disease database

Orphanet:94090

GARD

Genetic and Rare Diseases Info Center

GARD:10682

Questions for Your Care Team

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pseudohypoparathyroidism type 2

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team