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ErkrankungThanatophore Dysplasie, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Thanatophore Dysplasie mit 8 bzw. zusammen genommen 9 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
TP8374
Anzahl Gene
9 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
26,1 kb (Core-/Basis-Gene)
39,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
COL1A14395AD
COL1A24101AD und/oder AR
COL2A14464AD
FGFR32421AD und/oder AR und/oder SMu
PEX7972AR
SLC26A22220AR
SOX91530AD
TRIP115940AR
HSPG213176AR

Infos zur Erkrankung

Klinischer Kommentar

Primäre Knochendysplasie mit Mikromelie, Makrozephalie, schmalem Thorax, distinkten Gesichtszügen; Typ 1 + 2 durch Femur + Schädelform unterschiedlich

 

Synonyme
  • DD: Thanatophoric dysplasia I/II, Achondrogenesis (SLC26A2, TRIP11)
  • DD: Thanatophoric dysplasia I/II, Campomelic dysplasia (SOX9)
  • DD: Thanatophoric dysplasia I/II, Osteogenesis imperfecta type II (COL1A1, COL1A2)
  • DD: Thanatophoric dysplasia I/II, Platyspondylic lethal skeletal dysplasia (COL2A1)
  • DD: Thanatophoric dysplasia I/II, Rhizomelic chondrodysplasia punctata (PEX7)
  • Allelic: Bardet-Biedl syndrome 20 (IFT172)
  • Allelic: Caffey disease (COL1A1)
  • Allelic: Ehlers-Danlos syndrome, arthrochalasia type, 1 (COL1A1)
  • Allelic: Ehlers-Danlos syndrome, arthrochalasia type, 2 (COL1A2)
  • Allelic: Ehlers-Danlos syndrome, cardiac valvular type (COL1A2)
  • Allelic: Peroxisome biogenesis disorder 9B (PEX7)
  • Allelic: Retinal dystrophy with macular staphyloma (CFAP410)
  • Allelic: Retinitis pigmentosa 71 (IFT172)
  • Allelic: Retinitis pigmentosa 80 (IFT140)
  • Allelic: Schwartz-Jampel syndrome, type 1 (HSPG2)
  • Achondrogenesis, type IA (TRIP11)
  • Achondrogenesis, type IB (SLC26A2)
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to, 24 (NEK1)
  • Allelic: Nephronophthisis 12 (TTC21B)
  • Allelic: Nephronophthisis 13 (WDR19)
  • Campomelic dysplasia (SOX9)
  • Cranioectodermal dysplasia 1 (IFT122)
  • Cranioectodermal dysplasia 2 (WDR35)
  • Cranioectodermal dysplasia 4 (WDR19)
  • Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2)
  • Joubert syndrome 23 (KIAA0586)
  • Joubert syndrome 31 (CEP120)
  • Opsismodysplasia (INPPL1)
  • Osteogenesis imperfecta, type I-IV (COL1A1)
  • Osteogenesis imperfecta, type II-IV (COL1A2)
  • Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
  • Rhizomelic chondrodysplasia punctata, type (PEX7)
  • SADDAN [severe achondroplasia + developmental delay + acanthosis nigricans] (FGFR3)
  • Schneckenbecken dysplasia (SLC35D1)
  • Senior-Loken syndrome 8 (WDR19)
  • Senior-Loken syndrome 9 (TRAF3IP1)
  • Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
  • Short-rib thoracic dysplasia 13 with/-out polydactyly (CEP120)
  • Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
  • Short-rib thoracic dysplasia 15 with polydactyly (DYNC2LI1)
  • Short-rib thoracic dysplasia 16 with/-out polydactyly (IFT52)
  • Short-rib thoracic dysplasia 17 with/-out polydactyly (TCTEX1D2)
  • Short-rib thoracic dysplasia 19 with/-out polydactyly (IFT81)
  • Short-rib thoracic dysplasia 2 with/-out polydactyly (IFT80)
  • Short-rib thoracic dysplasia 3 with/-out polydactyly (DYNC2H1)
  • Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
  • Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)
  • Short-rib thoracic dysplasia 6 with/-out polydactyly (NEK1)
  • Short-rib thoracic dysplasia 7 with/-out polydactyly (WDR35)
  • Short-rib thoracic dysplasia 8 with/-out polydactyly (DYNC2I1)
  • Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
  • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type (PAM16)
  • Spondylometaphyseal dysplasia, Sedaghatian type (GPX4)
  • Spondylometaphyseal dysplasia, axial (CFAP410)
  • Thanatophoric dysplasia I/II (FGFR3)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder SMu
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q77.1

Bioinformatik und klinische Interpretation

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