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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessCalcinosis, tumorous; differential diagnosis


Short information

A curated panel containing 4 and altogether 11 genes for the comprehensive differentially diagnostic analysis of the genetically caused forms of Hyperphosphatemic familial tumoral calcinosis

Number of genes
4 Accredited laboratory test
Examined sequence length
10,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity

Informations about the disease

Clinical Comment

Phosphocalcic metabolism anomaly, particularly in younger age groups, presence of calcified masses in the juxta-articular regions (hip, elbow, ankle, scapula) without joint involvement. Lesions display collagen necrobiosis, followed by cyst formation, foreign-body response with calcification; 2 forms: normocalcemic tumoral calcinosis, familial tumoral calcinosis


  • Alias: Familial Tumoral Calcinosis
  • Alias: Hyperostosis-Hyperphosphatemia Syndrome
  • Alias: Hyperphosphatemic Familial Tumoral Calcinosis
  • Alias: Morbus Teutschländer (GALNT3)
  • Alias: Primary Hyperphosphatemic Tumoral Calcinosis
  • Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
  • Allelic: Bone mineral density variation QTL, osteoporosis (COL1A1)
  • Allelic: Combined osteogenesis imperfecta + Ehlers-Danlos syndrome 1 (COL1A1)
  • Allelic: Diabetes mellitus, non-insulin-dependent, susceptibility to (ENPP1)
  • Allelic: Ehlers-Danlos syndrome, arthrochalasia type, 1 (COL1A1)
  • Allelic: Hypophosphatemic rickets, AD (FGF23)
  • Allelic: Hypophosphatemic rickets, Ar, 2 (ENPP1)
  • Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
  • Allelic: Obesity, susceptibility to (ENPP1)
  • Allelic: Osteogenesis imperfecta, type I-IV (COL1A1)
  • Allelic: Porphyria, hepatoerythropoietic (UROD)
  • Allelic: Pseudohypoparathyroidism Ia, Ib, Ic (GNAS)
  • Allelic: Pseudopseudohypoparathyroidism (GNAS)
  • Allelic: Pseudoxanthoma elasticum (ABCC6)
  • Allelic: Pseudoxanthoma elasticum, forme fruste (ABCC6)
  • Arterial calcification, generalized, of infancy, 1 (ENPP1)
  • Arterial calcification, generalized, of infancy, 2 (ABCC6)
  • Caffey disease (COL1A1)
  • Calcification of joints + arteries (NT5E)
  • Cole disease (ENPP1)
  • Fibrodysplasia ossificans progressiva (ACVR1)
  • MIRAGE syndrome (SAMD9)
  • Osseous heteroplasia, progressive (GNAS)
  • Porphyria cutanea tarda (UROD)
  • Tumoral calcinosis, familial, normophosphatemic (SAMD9)
  • Tumoral calcinosis, hyperphosphatemic, familial, 1 (GALNT3)
  • Tumoral calcinosis, hyperphosphatemic, familial, 2 (FGF23)
  • Tumoral calcinosis, hyperphosphatemic, familial, 3 (KL)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined