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familial isolated hyperparathyroidism (FIHP) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial isolated hyperparathyroidism

MONDO:0015027

Also known as:FIHPFIHPT

Overview

A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.

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 very common findings: Nephrocalcinosis, Chondrocalcinosis, Mild bone density loss (osteopenia), and Hypophosphatemia and others; and sometimes findings: Reduced kidney function (renal insufficiency) and Abdominal symptom.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	2	Reduced kidney function (renal insufficiency), Nephrocalcinosis

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

Suggestive Findings

CDC73-related disorders should be suspected in individuals with any of the following clinical, family history, laboratory, radiographic, and/or histopathology features.

Clinical features

Primary hyperparathyroidism and ossifying fibroma(s) of the jaw
Primary hyperparathyroidism with age of onset 45 years and cystic, atypical, and/or malignant parathyroid histology

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 familial isolated hyperparathyroidism. 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 identified to have a pathogenic variant in CDC73, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 4.

CDC73-Related Disorders: Recommended Evaluations Following Initial Diagnosis

Prognosis

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

GeneReviews

Surveillance Guidelines

There are currently no well-established, evidence-based surveillance guidelines for individuals with a CDC73-related disorder. Based on an extensive literature review and to monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.

Table 5.

CDC73-Related Disorders: Recommended Surveillance

System/Concern | Evaluation | Frequency

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 familial isolated hyperparathyroidism.

7 publications have been identified in PubMed for familial isolated hyperparathyroidism. Research spans Review / Meta-Analysis (43%), Case Report / Case Series (43%), and Diagnostic / Biomarker (14%).

Recent Publications

Wong M (2026). [PMID: 41938275](https://pubmed.ncbi.nlm.nih.gov/41938275/). *AACE Endocrinol Diabetes*. [Case Report / Case Series]
Romanet P (2025). [PMID: 39818301](https://pubmed.ncbi.nlm.nih.gov/39818301/). *Ann Endocrinol (Paris)*. [Review / Meta-Analysis]
Needleman L (2025). [PMID: 39677927](https://pubmed.ncbi.nlm.nih.gov/39677927/). *JBMR Plus*. [Case Report / Case Series]
Marini F (2025). [PMID: 39939267](https://pubmed.ncbi.nlm.nih.gov/39939267/). *Best Pract Res Clin Endocrinol Metab*. [Review / Meta-Analysis]
Grover A (2025). [PMID: 40057424](https://pubmed.ncbi.nlm.nih.gov/40057424/). *Best Pract Res Clin Endocrinol Metab*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:99879

GARD

Genetic and Rare Diseases Info Center

GARD:16923

Questions for Your Care Team

→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

GeneReviews

Differential Diagnosis

The following disorders should be considered in the differential diagnosis of CDC73-related disorders. Primary Hyperparathyroidism/ Familial Isolated Hyperparathyroidism Sporadic primary hyperparathyroidism. Primary hyperparathyroidism has a prevalence of one to three in 1,000 in the general population, with a female-to-male ratio of approximately 2.5:1 . Sporadic primary hyperparathyroidism is typically caused by a single parathyroid adenoma, with peak age of onset in the sixth decade of life. Sporadic atypical parathyroid adenomas do not tend to show loss of CDC73 staining . Hereditary primary hyperparathyroidism/ familial isolated hyperparathyroidism. See . Table 2. Genes of Interest in the Differential Diagnosis of Primary Hyperparathyroidism/ Familial Isolated Hyperparathyroidism

Gene	Disorder	MOI	Clinical Characteristics
GNA11	Familial hypocalciuric hypercalcemia (FHH) (OMIM PS145980)	AD	CASR-related FHH is a benign condition characterized by hypercalcemia, low urinary calcium excretion (assessed via a calcium-to-creatinine clearance ratio), normal to minimally PTH, frequent hypermagnesemia. Biochemical findings in FHH can overlap w/those of primary hyperparathyroidism.
CASR	Familial isolated hyperparathyroidism (FIHP)1	AD	Heterozygous CASR pathogenic variants have been reported in 14%-18% of persons w/FIHP.1
Neonatal severe primary hyperparathyroidism (OMIM 239200)	AR(AD)	Rare condition assoc w/severe neonatal or infantile hypercalcemia hyperparathyroidism that may lead to death if untreated. Diagnosis is typically w/in 1st mo of life but may range from birth to ~3 mos.2	—
CDKN1B	Multiple endocrine neoplasia type 4 (MEN4)	AD	Phenotype overlaps w/MEN1; however, less is known about penetrance of MEN4 assoc lifetime risk for endocrine tumors.; Primary hyperparathyroidism tends to occur at a later age in MEN4 than in MEN1.
GCM2	FIHP type 4 (OMIM 617343)	AD	Early data suggest that persons w/GCM2-related primary hyperparathyroidism are more likely to have aggressive disease, incl lower rate of biochemical cure incidence of parathyroid carcinoma.; Persons in these kindreds do not appear to be at risk for other endocrine tumors.
MAX	Multiple endocrine neoplasia type 5 (MEN5)3	AD	Primarily heredita...

Source: GeneReviews — "CDC73-Related Disorders"

Kisho

familial isolated hyperparathyroidism

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

HPT-JT Syndrome

Explore clinical features

Differential Diagnosis

Primary hyperparathyroidism

Jaw tumors

Renal lesions

Uterine tumors

Genetic counseling

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Parathyroid tumors

Jaw tumors

Renal lesions

Uterine tumors

familial isolated hyperparathyroidism

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

HPT-JT Syndrome

Explore clinical features

Differential Diagnosis

Primary hyperparathyroidism

Jaw tumors

Renal lesions

Uterine tumors

Genetic counseling

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Parathyroid tumors

Jaw tumors

Renal lesions

Uterine tumors