Osteochondrodysplasia, Complex Lethal, Symoens-barnes-gistelinck Type; Oclsbg

Description

Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).

Genes related to Osteochondrodysplasia, Complex Lethal, Symoens-barnes-gistelinck Type; Oclsbg

TAPT1

Clinical Features

Top most frequent phenotypes and symptoms related to Osteochondrodysplasia, Complex Lethal, Symoens-barnes-gistelinck Type; Oclsbg

Microcephaly
Hypertelorism
Growth delay
Micrognathia
Cleft palate
Myopathy
Flexion contracture
Low-set ears
Intrauterine growth retardation
Wide nasal bridge

And another 47 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Osteochondrodysplasia, Complex Lethal, Symoens-barnes-gistelinck Type; Oclsbg Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Osteogenesis Imperfecta and Genetic Bone Disorders Panel. By Collagen Diagnostic Laboratory University of Washington in United States. ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, PLOD3, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, MBTPS2, PLS3, TAPT1, SPARC, XYLT2 , (...) View the complete list with 10 more genes Panel GTR000525804 complete gene list ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, PLOD3, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, MBTPS2, PLS3, TAPT1, SPARC, XYLT2, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, P4HB, CREB3L1, NBAS, B3GAT3, GORAB Specificity 4 % Genes 100 %
Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive. By Connective Tissue Gene Tests in United States. ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...) View the complete list with 4 more genes Panel GTR000559322 complete gene list ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, P4HB, CREB3L1 Specificity 5 % Genes 100 %
Osteogenesis imperfecta Deletion / Duplication panel - Recessive. By Connective Tissue Gene Tests in United States. ALPL, FKBP10, LRP5, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1 Specificity 6 % Genes 100 %
Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive. By Connective Tissue Gene Tests in United States. ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...) View the complete list with 4 more genes Panel GTR000559365 complete gene list ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, P4HB, CREB3L1 Specificity 5 % Genes 100 %
Osteogenesis imperfecta NGS panel - Recessive. By Connective Tissue Gene Tests in United States. ALPL, FKBP10, LRP5, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1 Specificity 6 % Genes 100 %
Osteogenesis imperfecta Comprehensive panel - Recessive. By Connective Tissue Gene Tests in United States. ALPL, FKBP10, LRP5, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1 Specificity 6 % Genes 100 %
Osteogenesis imperfecta NGS panel - Dominant & Recessive. By Connective Tissue Gene Tests in United States. ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...) View the complete list with 4 more genes Panel GTR000559438 complete gene list ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, P4HB, CREB3L1 Specificity 5 % Genes 100 %
OI panel 2. By Connective Tissue Laboratory Ghent University Hospital in Belgium. FKBP10, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, TAPT1, SPARC, XYLT2, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, P4HB, CREB3L1, B3GALT6 Specificity 6 % Genes 100 %
NGS panel - Osteogenesis Imperfecta and related disorders. By Genome Diagnostics VU University Medical Center in Netherlands. ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PLS3, TAPT1, TMEM38B, BMP1, WNT1, SERPINH1, CREB3L1 Specificity 6 % Genes 100 %

Alternate names

Osteochondrodysplasia, Complex Lethal, Symoens-barnes-gistelinck Type; Oclsbg Is also known as ;complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type.

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