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tumoral calcinosis, hyperphosphatemic, familial, 3 (HFTC3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tumoral calcinosis, hyperphosphatemic, familial, 3

MONDO:0060715

Also known as:HFTC3

Overview

GeneticsAutosomal recessive · KL (chr 13)

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 always present findings: Achilles tendon calcification, Elevated circulating parathyroid hormone level, Calvarial osteosclerosis, and Hypercalcemia and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Fatigue, Headache, Cerebral calcification

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.

KL encodes klotho (1,012 aa). May have weak glycosidase activity towards glucuronylated steroids. Highest expression in Kidney Cortex (18.7 TPM) and Kidney Medulla (10.7 TPM).

Tumoral calcinosis, hyperphosphatemic, familial, 3 is associated with mutations in the KL gene on chromosome 13.

The KL protein participates in p-11Y PDGFRA Y288C, CDC42 GEFs activate CDC42, and TPST1,2 transfer SO4(2-) from PAPS to FVIII pathways.

KL is classified as a druggable target (Druggable Genome, Enzyme, Hormone Activity, and Transporter categories) with score 2.5.

Diagnosis

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

Prognosis

Phenotype severity distribution: 12 always present 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 tumoral calcinosis, hyperphosphatemic, familial, 3.

7 publications have been identified in PubMed for tumoral calcinosis, hyperphosphatemic, familial, 3. Research spans Case Report / Case Series (100%).

Recent Publications

Ranzinger D (2025). [PMID: 40317874](https://pubmed.ncbi.nlm.nih.gov/40317874/). *J Dtsch Dermatol Ges*. [Case Report / Case Series]
Alqarni MM (2025). [PMID: 40524990](https://pubmed.ncbi.nlm.nih.gov/40524990/). *Cureus*. [Case Report / Case Series]
Kashayi-Chowdojirao S (2025). [PMID: 41100632](https://pubmed.ncbi.nlm.nih.gov/41100632/). *JBJS Case Connect*. [Case Report / Case Series]
Ali I (2025). [PMID: 40330379](https://pubmed.ncbi.nlm.nih.gov/40330379/). *Cureus*. [Case Report / Case Series]
Fabbriciani G (2024). [PMID: 38916164](https://pubmed.ncbi.nlm.nih.gov/38916164/). *Reumatismo*. [Case Report / Case Series]
Moran H (2024). [PMID: 39395830](https://pubmed.ncbi.nlm.nih.gov/39395830/). *BMJ Case Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 2:16 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617994

GARD

Genetic and Rare Diseases Info Center

GARD:16282

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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tumoral calcinosis, hyperphosphatemic, familial, 3

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

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