Familial Hyperphosphatemic Tumoral Calcinosis/hyperphosphatemic Hyperostosis Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.

Genes related to Familial Hyperphosphatemic Tumoral Calcinosis/hyperphosphatemic Hyperostosis Syndrome

FGF23
GALNT3
KL

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Clinical Features

Top most frequent phenotypes and symptoms related to Familial Hyperphosphatemic Tumoral Calcinosis/hyperphosphatemic Hyperostosis Syndrome

Pain
Anemia
Hypertension
Dilatation
Arthritis
Abnormality of the skin
Hypoplasia of dental enamel
Bone pain
Nephrocalcinosis
Rickets

And another 20 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Familial Hyperphosphatemic Tumoral Calcinosis/hyperphosphatemic Hyperostosis Syndrome Is also known as cortical hyperostosis with hyperphosphatemia, calcinosis, tumoral, with hyperphosphatemia, hftc, hhs, hyperostosis with hyperphosphatemia, hypercalcemic tumoral calcinosis, tumoral calcinosis, hyperphosphatemic, familial, phptc, hyperostosis-hyperphosphatemia syn.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Familial Hyperphosphatemic Tumoral Calcinosis/hyperphosphatemic Hyperostosis Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypophosphatemic Rickets Evalation. By Athena Diagnostics Inc (United States). FGF23, PHEX Specificity 50 % Genes 34 %
FGF23 (Hypophosphatemic Rickets) DNA Sequencing Test. By Athena Diagnostics Inc (United States). FGF23 Specificity 100 % Genes 34 %
Hypophosphatemic Rickets Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). VDR, CLCN5, SLC34A3, CYP2R1, CYP27B1, DMP1, ENPP1, FGF23, ALPL, PHEX Specificity 10 % Genes 34 %
Hypophosphatemic Rickets Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). VDR, CLCN5, SLC34A3, CYP2R1, CYP27B1, DMP1, ENPP1, FGF23, ALPL, PHEX Specificity 10 % Genes 34 %
ExomePLUS Electrolyte & Kidney Stone. By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States). SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS , (...) View the complete list with 28 more genes Panel complete gene list SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS, CUL3, CYP11B2, CYP24A1, ENPP1, AGXT, FAH, FGF23, GALNT3, GATA3, GCM2, GNA11, GNAS, GRHPR, HPRT1, HSD11B2, AP2S1, KCNJ1, APRT, AQP2, KLHL3, NR3C2, OCRL, ATP6V1B1, ATP6V0A4, PHEX, AVP, AVPR2, PTH Specificity 5 % Genes 67 %
FGF23 Gene Sequencing. By GeneDx (United States). FGF23 Specificity 100 % Genes 34 %
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States). BMP1, SEC24D, SPARC, WNT1, CASR, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, SLC34A3, COL1A2, CRTAP, TMEM38B, GORAB, DMP1, ENPP1, FGF23, ALPL , (...) View the complete list with 8 more genes Panel complete gene list BMP1, SEC24D, SPARC, WNT1, CASR, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, SLC34A3, COL1A2, CRTAP, TMEM38B, GORAB, DMP1, ENPP1, FGF23, ALPL, LRP5, NOTCH2, P4HB, SERPINF1, PHEX, PLOD2, PLS3, PPIB Specificity 4 % Genes 34 %
FGF23. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). FGF23 Specificity 100 % Genes 34 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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