IllnessMultiple epiphyseal dysplasia, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Multiple epiphyseal dysplasia comprising 5 or altogether 11 curated genes according to the clinical signs

MP5544

Number of genes

11 Accredited laboratory test

Examined sequence length

10,1 kb (Core-/Core-canditate-Genes)
28,6 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	Heredity
COL9A2	2070	120260	AD
COL9A3	2055	120270	AD
COMP	2274	600310	AD
MATN3	1461	602109	AD
SLC26A2	2220	606718	AR
CANT1	1206	613165	AR
CHST3	1440	603799	AR
COL11A2	5211	120290	AR
COL2A1	4464	120140	AD
COL9A1	2766	120210	AD
EIF2AK3	3351	604032	AR

Informations about the disease

Synonyms

Alias: Polyepiphyseal dysplasia
Allelic: Deafness, AR 53 (COL11A2)
Allelic: Deafness, Ad 13 (COL11A2)
Allelic: Desbuquois dysplasia 1 (CANT1)
Allelic: Osteoarthritis susceptibility 2 (MATN3)
Allelic: Stickler sydrome, type I, nonsyndromic ocular (COL2A1)
Allelic: Stickler syndrome, type I (COL2A1)
Allelic: Stickler syndrome, type IV (COL9A1)
Allelic: Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
Achondrogenesis, type II or hypochondrogenesis (COL2A1)
Alias: Multiple epiphysäre Dysplasie
Avascular necrosis of the femoral head (COL2A1)
Czech dysplasia (COL2A1)
Epiphyseal dysplasia, multiple, 5 (MATN3)
Epiphyseal dysplasia, multiple, 6 (COL9A1)
Epiphyseal dysplasia, multiple, 7 (CANT1)
Epiphyseal dysplasia, multiple, with myopia + deafness (COL2A1)
Fibrochondrogenesis 2 (COL11A2)
Kniest dysplasia (COL2A1)
Legg-Calve-Perthes disease (COL2A1)
Osteoarthritis with mild chondrodysplasia (COL2A1)
Otospondylomegaepiphyseal dysplasia, AD (COL11A2)
Otospondylomegaepiphyseal dysplasia, AR (COL11A2)
Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
Spondyloepimetaphyseal dysplasia congenita (COL2A1)
Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MATN3)
Spondyloepimetaphyseal dysplasia, Strudwick type (COL2A1)
Spondyloepiphyseal dysplasia tarda (TRAPPC2)
Spondyloepiphyseal dysplasia with congenital joint dislocations (CHST3)
Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
Spondyloperipheral dysplasia (COL2A1)
Wolcott-Rallison syndrome (EIF2AK3)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Q77.7

Bioinformatics and clinical interpretation

No text defined