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familial hypocalciuric hypercalcemia 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial hypocalciuric hypercalcemia 3

MONDO:0010926

Also known as:AP2S1 familial hypocalciuric hypercalcemiaFHH type 3HHC3

Overview

Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.

GeneticsAutosomal dominant · AP2S1 (chr 19)

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 sometimes findings: Peptic ulcer, Reduced kidney function (renal insufficiency), Fatigue, and Depression and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	4	Reduced kidney function (renal insufficiency), Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithiasis

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.

AP2S1 encodes adaptor related protein complex 2 subunit sigma 1 (142 aa). Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Highest expression in Cells Cultured fibroblasts (302.6 TPM) and Esophagus Mucosa (161.2 TPM).

Familial hypocalciuric hypercalcemia 3 is associated with mutations in the AP2S1 gene on chromosome 19.

AP2S1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for AP2S1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for familial hypocalciuric hypercalcemia 3 has been reported in the published literature.

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 hypocalciuric hypercalcemia 3.

21 publications have been identified in PubMed for familial hypocalciuric hypercalcemia 3. Research spans Case Report / Case Series (62%), Basic Science / Preclinical (19%), and Diagnostic / Biomarker (14%).

Research Type	Count	% of Total
Patient case studies	13	62%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600740

Orphanet

European rare disease database

Orphanet:101050

GARD

Genetic and Rare Diseases Info Center

GARD:2878

Questions for Your Care Team

→Should I pursue genetic testing for AP2S1, and what would the results mean for my family?
→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

familial hypocalciuric hypercalcemia 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

familial hypocalciuric hypercalcemia 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications