English
ErkrankungMultiple epiphyseale Dysplasie, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Multiple epiphyseale Dysplasie mit 5 bzw. zusammen genommen 13 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
MP5544
Anzahl Gene
11
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
10,1 kb (Core-/Basis-Gene)
28,6 kb (Erweitertes Panel)
28,6 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| COL9A2 | 2070 | AD und/oder AR | |
| COL9A3 | 2055 | AD und/oder AR | |
| COMP | 2274 | AD | |
| MATN3 | 1461 | AD und/oder AR | |
| SLC26A2 | 2220 | AR | |
| CANT1 | 1206 | AR | |
| CHST3 | 1440 | AR | |
| COL11A2 | 5211 | AD und/oder AR | |
| COL2A1 | 4464 | AD | |
| COL9A1 | 2766 | AD und/oder AR | |
| EIF2AK3 | 3351 | AR |
Infos zur Erkrankung
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q77.7
Bioinformatik und klinische Interpretation
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