IllnessOsteochondritis dissecans, differential diagnosis

Summary

Short information

A curated panel containing 1 core gene, 5 core candidate genes and altogether 8 genes for the comprehensive analysis of the genetically caused forms of Osteochondritis dissecans

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

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ABCC9	4650	601439	NM_005691.4	AD
ACAN	7593	155760	NM_013227.4	AD, AR
COL2A1	4464	120140	NM_001844.5	AD
COL9A2	2070	120260	NM_001852.4	AD
ORC1	2586	601902	NM_004153.4	AR
SMAD3	1278	603109	NM_005902.4	AD
LBR	1848	600024	NM_002296.4	AR
TAPT1	1745	612758	NM_153365.3	AR

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined