- Diseases
- Ehlers-Danlos/osteogenesis imperfecta syndrome
Ehlers-Danlos/osteogenesis imperfecta syndrome
Name: |
Ehlers-Danlos/osteogenesis imperfecta syndrome
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Description: |
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.
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ORPHAcode: |
230857
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Synonyms: |
EDS/OI syndrome
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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Ehlers-Danlos syndrome -UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADAMTS2 100.00 1 AEBP1 100.00 1 B3GALT6 100.00 1 B3GAT3 100.00 1 B4GALT7 100.00 1 C1R 100.00 1 C1S 100.00 1 CHST14 100.00 1 COL12A1 100.00 1 COL1A1 100.00 1 COL1A2 100.00 1 COL3A1 100.00 1 COL5A1 100.00 1 COL5A2 100.00 1 DSE 100.00 1 FKBP14 100.00 1 PLOD1 100.00 1 PRDM5 100.00 1 RIN2 100.00 1 SLC39A13 100.00 1 XYLT1 100.00 1 XYLT2 100.00 1 ZNF469 100.00 1 FLNA 100.00 1 FLNB 100.00 1 TAB2 100.00 1 -
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