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ErkrankungAtelosteogenesis I-III, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Atelosteogenesis I-III mit 2 bzw. 10 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
AP1090
Anzahl Gene
10 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
10,1 kb (Core-/Basis-Gene)
27,2 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
FLNB7809AD und/oder AR
SLC26A22220AR
B3GAT31008AR
B4GALT7984AR
BPNT21080AR
CANT11206AR
CHST31440AR
FLNA7920XL
GDF61368AD und/oder AR
GZF12136AR

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von Erkrankungen

 

Synonyme
  • Mild to severe symptoms: SCT syndrome + Larsen syndrome > AOI +AOIII + POCD
  • Atelosteogenesis types I, AOI (FLNB) + III AOIII (FLNB)
  • Larsen syndrome (FLNB)
  • Piepkorn osteochondrodysplasia, POCD (FLNB)
  • Spondylocarpotarsal synostosis, SCT syndrome (FLNB)
  • Alias: Atelosteogenesis II; Achondrogenesis Ib; De la Chapelle dysplasia (SLC26A2)
  • Allelic: Frontometaphyseal dysplasia 1 (FLNA)
  • Allelic: Klippel-Feil syndrome 1, AD (GFD6)
  • Allelic: Melnick-Needles syndrome (FLNA)
  • Allelic: Otopalatodigital syndrome, type II (FLNA)
  • Allelic: Terminal osseous dysplasia (FLNA)
  • Atelosteogenesis I+III; Boomerang dysplasia; Spondylocarpotarsal synostosis, Larsen syndrome (FLNB)
  • Achondrogenesis Ib (SLC26A2)
  • CHST3-CDG [disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies]
  • Chondrodysplasia with joint dislocations, GPAPP/GRAPP [includes cleft palate] (BPNT2 syn. IMPAD1)
  • De la Chapelle dysplasia, includes clefting; McAlister Dysplasia (SLC26A2)
  • Desbuquois dysplasia 1 (CANT1)
  • Diastrophic dysplasia (SLC26A2)
  • Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
  • Diastrophic dysplasia, includes clefting (SLC26A2)
  • Ehlers-Danlos syndrome, spondylodysplastic type, 1 (B4GALT7)
  • Epiphyseal dysplasia, multiple, 4 (SLC26A2)
  • Epiphyseal dysplasia, multiple, 7 (CANT1)
  • Giant cell chondrodysplasia (FLNB)
  • Joint laxity, short stature + myopia (GZF1)
  • Klippel-Feil syndrome 1, AD; Multiple synostoses syndrome type 4 (GDF6)
  • Microphthalmia, isol. 4; Microphthalmia, coloboma 6, digenic; Leber cong. amaurosis 17 (GDF6)
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, cong. heart defects (B3GAT3)
  • Multiple synostoses syndrome 4 (GDF6)
  • Otopalatodigital syndrome, type I (FLNA)
  • Skeletal dysplasia with midline cleft palate; Orofacial clefting with skeletal features (FLNB)
  • Spondyloepiphyseal dysplasia with congenital joint dislocations (CHST3)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder AR
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q78.8

Bioinformatik und klinische Interpretation

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