Deutsch
IllnessCalcinosis, tumorous; differential diagnosis
Summary
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
ID
KP5847
Number of genes
4
Accredited laboratory test
Examined sequence length
10,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
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
Synonyms
- 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
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
M11.1-
Bioinformatics and clinical interpretation
No text defined