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hypoparathyroidism, familial isolated, 2 (FIH2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypoparathyroidism, familial isolated, 2

MONDO:0020798

Also known as:FIH2hypoparathyroidism, familial isolated 2

Overview

GeneticsAutosomal recessive · GCM2 (chr 6)

ResearchLimited published research (1 article)

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: Decreased circulating parathyroid hormone level; and common findings: Hypocalcemic seizures, Hyperphosphatemia, and Hypocalcemia.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Hypocalcemic seizures

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.

GCM2 encodes glial cells missing transcription factor 2 (506 aa). Transcription factor that binds specific sequences on gene promoters and activate their transcription. Through the regulation of gene transcription, may play a role in parathyroid gland development Highest expression in Testis (1.4 TPM) and Brain Cerebellum (0.1 TPM).

Hypoparathyroidism, familial isolated, 2 is associated with mutations in the GCM2 gene on chromosome 6.

GCM2 is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

Genetic testing for GCM2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 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 hypoparathyroidism, familial isolated, 2.

1 publication has been identified in PubMed for hypoparathyroidism, familial isolated, 2. Research spans Case Report / Case Series (100%).

Recent Publications

Thambundit A (2024). [PMID: 39439810](https://pubmed.ncbi.nlm.nih.gov/39439810/). *JCEM Case Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Nov 3, 2026, 7:23 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618883

GARD

Genetic and Rare Diseases Info Center

GARD:18257

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?

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Kisho

hypoparathyroidism, familial isolated, 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Medical and Psychosocial Challenges Among Patients with Hypoparathyroidism in China: A Cross-Sectional Online Survey.

Hypomagnesemia in Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome Caused by Pathogenic Variants of GATA3.

[Resolution of the Joint Meeting of the Expert Council "Hypoparathyroidism in the Era of Complex Problems and Breakthrough Technologies"].

hypoparathyroidism, familial isolated, 2

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

Latest News & Developments

Medical and Psychosocial Challenges Among Patients with Hypoparathyroidism in China: A Cross-Sectional Online Survey.

Hypomagnesemia in Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome Caused by Pathogenic Variants of GATA3.

[Resolution of the Joint Meeting of the Expert Council "Hypoparathyroidism in the Era of Complex Problems and Breakthrough Technologies"].