- Diseases
- Osteogenesis imperfecta
Osteogenesis imperfecta
Name: |
Osteogenesis imperfecta
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Description: |
A rare, genetic, primary bone dysplasias characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures. The clinical severity is heterogeneous.
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ORPHAcode: |
666
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Synonyms: |
Brittle bone disease
Glass bone disease
Lobstein disease
OI
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XREF(s): | |
Analyte(s): | |
Created: |
20 Aug 2021 - 01:14
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Changed: |
01 Aug 2021 - 06:46
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Osteogenesis Imperfecta (25 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ANO5 95.00 0 NM_213599.3 BMP1 95.00 0 NM_006129.5 COL1A1 95.00 0 NM_000088.4 COL1A2 95.00 0 NM_000089.4 CREB3L1 95.00 0 NM_052854.4 CRTAP 95.00 0 NM_006371.5 FKBP10 95.00 0 NM_021939.4 IFITM5 95.00 0 NM_001025295.3 LRP5 95.00 0 NM_002335.4 MBTPS2 95.00 0 NM_015884.4 P3H1 95.00 0 NM_022356.4 P4HB 95.00 0 NM_000918.4 PLOD2 95.00 0 NM_182943.3 PLS3 95.00 0 NM_005032.7 PPIB 95.00 0 NM_000942.5 SEC24D 95.00 0 NM_014822.4 SERPINF1 95.00 0 NM_002615.7 SERPINH1 95.00 0 NM_001235.5 SGMS2 95.00 0 NM_001136257.2 SP7 95.00 0 NM_001173467.3 SPARC 95.00 0 NM_003118.4 TENT5A 95.00 0 NM_017633.3 TMEM38B 95.00 0 NM_018112.3 WNT1 95.00 0 NM_005430.4 XYLT2 95.00 0 NM_022167.4 -
Osteogenesis imperfecta and Osteoporosis (43 genes) - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACAN 100.00 1 ALPL 100.00 1 B3GALT6 100.00 1 BMP1 100.00 1 COL1A1 100.00 1 COL1A2 100.00 1 CREB3L1 100.00 1 CRTAP 100.00 1 FKBP10 100.00 1 IFITM5 100.00 1 P3H1 100.00 1 LRP5 100.00 1 LRP6 100.00 1 MBTPS2 100.00 1 MIA3 100.00 1 NBAS 100.00 1 P4HB 100.00 1 PLOD2 100.00 1 PLS3 100.00 1 PPIB 100.00 1 SEC16B 100.00 1 SEC24D 100.00 1 SERPINF1 100.00 1 SERPINH1 100.00 1 SP7 100.00 1 SPARC 100.00 1 TAPT1 100.00 1 TENT5A 100.00 1 WNT1 100.00 1 TMEM38B 100.00 1 LIFR 100.00 1 ARF5 100.00 1 BICDL1 100.00 1 CCDC134 100.00 1 COPB2 100.00 1 KDELR2 100.00 1 MESD 100.00 1 PHEX 100.00 1 SGMS2 100.00 1 STX18 100.00 1 SUCO 100.00 1 WNT3A 100.00 1 XYLT2 100.00 1