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primary avascular necrosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary avascular necrosis

MONDO:0018379

Also known as:primary AVN

Overview

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.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

Disorders of GNAS inactivation include pseudohypoparathyroidism Ia (PHP-Ia), Ib (PHP-Ib), and Ic (PHP-Ic), as well as pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC) . The term pseudohypoparathyroidism (PHP) refers to disorders with hypocalcemia and hyperphosphatemia (which are typical of hypoparathyroidism) that result from end-organ resistance to rather than deficiency of parathyroid hormone (PTH).

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No specific clinical criteria establish the diagnosis of a disorder of GNAS inactivation.

Suggestive Findings

A disorder of GNAS inactivation should be suspected in individuals with the following phenotypes. Pseudohypoparathyroidism Ia (PHP-Ia) and pseudohypoparathyroidism Ic (PHP-Ic). The most readily recognized form of PHP is PHP-Ia, which has clinical and endocrine features similar to PHP-Ic. Note: PHP-Ic differs from PHP-Ia on the basis of normal functional activity of Gs (the protein encoded by GNAS) determined in some biochemical assays based on receptor-independent activation of Gs . PHP-Ia and PHP-Ic should be suspected in individuals with some of the following clinical and endocrine findings (which may emerge over time):

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for primary avascular necrosis. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with a disorder of GNAS inactivation, the following evaluations are recommended:

Assessment of height, weight, body mass index, growth velocity, and pubertal development

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Surveillance includes the following:

Once the diagnosis is established, annual monitoring for endocrine abnormalities with measurement of serum concentration of PTH, calcium, and phosphate; TSH and free T4, and urinary calcium excretion (either 24-hour urine collection or random urine collections for determination of the calcium/creatinine ratio). These studies should be begun as soon an individual begins treatment, and may be performed more frequently in growing children who may experience increasing requirements for thyroid hormone and/or activated forms of vitamin D.

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 primary avascular necrosis.

74 publications have been identified in PubMed for primary avascular necrosis. Research spans Clinical Trial Publication (39%), Epidemiology / Natural History (20%), and Case Report / Case Series (15%).

Research Type	Count	% of Total
Clinical study results	29	39%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:399302

GARD

Genetic and Rare Diseases Info Center

GARD:21664

Questions for Your Care Team

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Kisho

primary avascular necrosis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Pseudohypoparathyroidism Ia (PHP-Ia) and PHP-Ic

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

primary avascular necrosis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Pseudohypoparathyroidism Ia (PHP-Ia) and PHP-Ic

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications