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Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome(HFTC; PHPTC; HHS)

MedGen UID:
360297
•Concept ID:
C1876187
•
Disease or Syndrome
Synonym: Tumoral calcinosis, hyperphosphatemic, familial
SNOMED CT: Hyperphosphatemic familial tumoral calcinosis (860796007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0100251
OMIM®: 211900
Orphanet: ORPHA306661

Definition

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. It can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
Follow this link to review classifications for Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome in Orphanet.

Professional guidelines

PubMed

Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Nitschke Y, Rutsch F
Curr Osteoporos Rep 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. PMID: 28585220

Recent clinical studies

Etiology

Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Nitschke Y, Rutsch F
Curr Osteoporos Rep 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. PMID: 28585220
Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.
Ramnitz MS, Gourh P, Goldbach-Mansky R, Wodajo F, Ichikawa S, Econs MJ, White KE, Molinolo A, Chen MY, Heller T, Del Rivero J, Seo-Mayer P, Arabshahi B, Jackson MB, Hatab S, McCarthy E, Guthrie LC, Brillante BA, Gafni RI, Collins MT
J Bone Miner Res 2016 Oct;31(10):1845-1854. Epub 2016 Sep 20 doi: 10.1002/jbmr.2870. PMID: 27164190Free PMC Article
Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?
Jost J, Bahans C, Courbebaisse M, Tran TA, Linglart A, Benistan K, Lienhardt A, Mutar H, Pfender E, Ratsimbazafy V, Guigonis V
J Clin Endocrinol Metab 2016 Jul;101(7):2810-5. Epub 2016 May 10 doi: 10.1210/jc.2016-1087. PMID: 27163355

Diagnosis

Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 Gene: Experience from Southern Turkey.
Kışla Ekinci RM, Gürbüz F, Balcı S, Bişgin A, Taştan M, Yüksel B, Yılmaz M
J Clin Res Pediatr Endocrinol 2019 Feb 20;11(1):94-99. Epub 2018 Jul 17 doi: 10.4274/jcrpe.galenos.2018.2018.0134. PMID: 30015621Free PMC Article
Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?
Jost J, Bahans C, Courbebaisse M, Tran TA, Linglart A, Benistan K, Lienhardt A, Mutar H, Pfender E, Ratsimbazafy V, Guigonis V
J Clin Endocrinol Metab 2016 Jul;101(7):2810-5. Epub 2016 May 10 doi: 10.1210/jc.2016-1087. PMID: 27163355
An Unusual Cause of Pseudopapillary Oedema: Hyperphosphatemic Hyperostosis Syndrome.
Yumusak E, Mutlu FM, Gok F
Ophthalmic Genet 2016 Jun;37(2):238-41. Epub 2016 Jan 12 doi: 10.3109/13816810.2015.1033559. PMID: 26757489
Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.
Rafaelsen S, Johansson S, Ræder H, Bjerknes R
BMC Genet 2014 Sep 24;15:98. doi: 10.1186/s12863-014-0098-3. PMID: 25249269Free PMC Article
Rare bone diseases and their dental, oral, and craniofacial manifestations.
Foster BL, Ramnitz MS, Gafni RI, Burke AB, Boyce AM, Lee JS, Wright JT, Akintoye SO, Somerman MJ, Collins MT
J Dent Res 2014 Jul;93(7 Suppl):7S-19S. Epub 2014 Apr 3 doi: 10.1177/0022034514529150. PMID: 24700690Free PMC Article

Therapy

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.
Ramnitz MS, Gourh P, Goldbach-Mansky R, Wodajo F, Ichikawa S, Econs MJ, White KE, Molinolo A, Chen MY, Heller T, Del Rivero J, Seo-Mayer P, Arabshahi B, Jackson MB, Hatab S, McCarthy E, Guthrie LC, Brillante BA, Gafni RI, Collins MT
J Bone Miner Res 2016 Oct;31(10):1845-1854. Epub 2016 Sep 20 doi: 10.1002/jbmr.2870. PMID: 27164190Free PMC Article
Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?
Jost J, Bahans C, Courbebaisse M, Tran TA, Linglart A, Benistan K, Lienhardt A, Mutar H, Pfender E, Ratsimbazafy V, Guigonis V
J Clin Endocrinol Metab 2016 Jul;101(7):2810-5. Epub 2016 May 10 doi: 10.1210/jc.2016-1087. PMID: 27163355
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features.
Dumitrescu CE, Kelly MH, Khosravi A, Hart TC, Brahim J, White KE, Farrow EG, Nathan MH, Murphey MD, Collins MT
Osteoporos Int 2009 Jul;20(7):1273-8. Epub 2008 Nov 4 doi: 10.1007/s00198-008-0775-z. PMID: 18982401Free PMC Article

Prognosis

Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?
Jost J, Bahans C, Courbebaisse M, Tran TA, Linglart A, Benistan K, Lienhardt A, Mutar H, Pfender E, Ratsimbazafy V, Guigonis V
J Clin Endocrinol Metab 2016 Jul;101(7):2810-5. Epub 2016 May 10 doi: 10.1210/jc.2016-1087. PMID: 27163355
Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.
Rafaelsen S, Johansson S, Ræder H, Bjerknes R
BMC Genet 2014 Sep 24;15:98. doi: 10.1186/s12863-014-0098-3. PMID: 25249269Free PMC Article

Clinical prediction guides

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.
Ramnitz MS, Gourh P, Goldbach-Mansky R, Wodajo F, Ichikawa S, Econs MJ, White KE, Molinolo A, Chen MY, Heller T, Del Rivero J, Seo-Mayer P, Arabshahi B, Jackson MB, Hatab S, McCarthy E, Guthrie LC, Brillante BA, Gafni RI, Collins MT
J Bone Miner Res 2016 Oct;31(10):1845-1854. Epub 2016 Sep 20 doi: 10.1002/jbmr.2870. PMID: 27164190Free PMC Article
Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?
Jost J, Bahans C, Courbebaisse M, Tran TA, Linglart A, Benistan K, Lienhardt A, Mutar H, Pfender E, Ratsimbazafy V, Guigonis V
J Clin Endocrinol Metab 2016 Jul;101(7):2810-5. Epub 2016 May 10 doi: 10.1210/jc.2016-1087. PMID: 27163355
Mechanism of FGF23 processing in fibrous dysplasia.
Bhattacharyya N, Wiench M, Dumitrescu C, Connolly BM, Bugge TH, Patel HV, Gafni RI, Cherman N, Cho M, Hager GL, Collins MT
J Bone Miner Res 2012 May;27(5):1132-41. doi: 10.1002/jbmr.1546. PMID: 22247037Free PMC Article
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features.
Dumitrescu CE, Kelly MH, Khosravi A, Hart TC, Brahim J, White KE, Farrow EG, Nathan MH, Murphey MD, Collins MT
Osteoporos Int 2009 Jul;20(7):1273-8. Epub 2008 Nov 4 doi: 10.1007/s00198-008-0775-z. PMID: 18982401Free PMC Article

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