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

IllnessOsteochondritis dissecans, differential diagnosis

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Summary

Short information

A curated panel containing 6 or altogether 8 genes for the comprehensive analysis of the genetically caused forms of Osteochondritis dissecans

ID
OP1131
Number of genes
8 Accredited laboratory test
Examined sequence length
22,7 kb (Core-/Core-canditate-Genes)
26,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ABCC94650AD
ACAN7593AD
COL2A14464AD
COL9A22070AD
ORC12586AR
SMAD31278AD
LBR1848AR
TAPT11745AR

Informations about the disease

Clinical Comment

Skeletal disorder with abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles, elbows with onset generally in late childhood or adolescence

 

Synonyms
  • Alias: Familial osteochondritis dissecans
  • Allelic: Atrial fibrillation, familial, 12 (ABCC9)
  • Allelic: Cardiomyopathy, dilated, 1O (ABCC9)
  • Allelic: Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
  • Achondrogenesis, type II or hypochondrogenesis (COL2A1)
  • Allelic: Pelger-Huet anomaly (LBR)
  • Allelic: Pelger-Huet anomaly with mild skeletal anomalies (LBR)
  • Allelic: Reynolds syndrome (LBR)
  • Allelic: Stickler syndrome, type I, nonsyndromic ocular (COL2A1)
  • Cantu syndrome (ABCC9)
  • Czech dysplasia (COL2A1)
  • Epiphyseal dysplasia, multiple, 2 (COL9A2)
  • Epiphyseal dysplasia, multiple, with myopia and deafness (COL2A1)
  • Greenberg skeletal dysplasia (LBR)
  • Hypertrichotic osteochondrodysplasia (ABCC9)
  • Kniest dysplasia (COL2A1)
  • Legg-Calve-Perthes disease (COL2A1)
  • Loeys-Dietz syndrome 3 (SMAD3)
  • Meier-Gorlin syndrome 1 (ORC1)
  • Osteoarthritis with mild chondrodysplasia (COL2A1)
  • Osteochondritis dissecans and short stature (ACAN)
  • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (TAPT1)
  • Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
  • SED congenita (COL2A1)
  • SMED Strudwick type (COL2A1)
  • Short stature, advanced bone age, with/-out early osteoarthritis or osteochondritis dissecans (ACAN)
  • Spondyloepimetaphyseal dysplasia, aggrecan type (ACAN)
  • Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
  • Spondyloperipheral dysplasia (COL2A1)
  • Spondyloperipheral dysplasia, Kimberly type (ACAN)
  • Stickler syndrome, type I (COL2A1)
  • Stickler syndrome, type V (COL9A2)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
M92.8

Bioinformatics and clinical interpretation

No text defined