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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)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
COL9A22070AD und/oder AR
COL9A32055AD und/oder AR
COMP2274AD
MATN31461AD und/oder AR
SLC26A22220AR
CANT11206AR
CHST31440AR
COL11A25211AD und/oder AR
COL2A14464AD
COL9A12766AD und/oder AR
EIF2AK33351AR

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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