ErkrankungJeune-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Jeune-Syndrom mit 5 bzw. 26 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
JP5190
Anzahl Gene
21
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
27,7 kb (Core-/Basis-Gene)
73,5 kb (Erweitertes Panel)
73,5 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 |
---|---|---|---|
DYNC2H1 | 12945 | AR und/oder Dig | |
IFT140 | 4389 | AR | |
IFT80 | 2334 | AR | |
TTC21B | 3951 | AD und/oder AR | |
WDR19 | 4029 | AR | |
C2CD3 | 5892 | AR | |
CEP120 | 2961 | AR | |
CFAP410 | 1507 | AR | |
CILK1 | 1899 | AR | |
DYNC2I1 | 3201 | AR | |
DYNC2I2 | 1611 | AR | |
DYNC2LI1 | 1438 | AR | |
DYNLT2B | 434 | AR | |
EVC | 2979 | AD und/oder AR | |
EVC2 | 3927 | AD und/oder AR | |
IFT122 | 3879 | AR | |
IFT172 | 5250 | AR | |
IFT43 | 642 | AR | |
INTU | 2829 | AR | |
NEK1 | 3777 | AD und/oder AR und/oder Dig und/oder Sus | |
WDR35 | 3546 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Jeune-Syndrom, asphyxierende Thoraxdystrophie (JATD): Kurzrippendysplasie mit schmalem Thorax, kurzen Gliedmaßen + radiologischen Skelettanomalien einschließlich dreizackigem Aspekt der Hüftpfanne + metaphysären Veränderungen
Synonyme
- DD: Ellis-van Creveld syndrome (EVC, EVC2)
- DD: Loucks-Innes syndrome
- DD: Sensenbrenner syndrome
- Acrocallosal syndrome (KIF7)
- Acrocallosal syndrome (OFD1)
- Al-Gazali-Bakalinova syndrome (KIF7)
- Al-Gazali-Bakalinova syndrome (OFD1)
- Alias: Jeune asphyxiating thoracic dystrophy, JATD
- Alias: Thoracic-pelvic-phalangeal dystrophy
- Allelic: Amyotrophic lateral sclerosis, susceptibility to, 24 (NEK1)
- Allelic: Cranioectodermal dysplasia 4 (WDR19)
- Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 10 (CILK1)
- Allelic: Joubert syndrome 23 (KIAA0586)
- Allelic: Joubert syndrome 31 (CEP120)
- Allelic: Nephronophthisis 12 (TTC21B)
- Allelic: Nephronophthisis 13 (WDR19)
- Allelic: Orofaciodigital syndrome XVII (INTU)
- Allelic: Retinal dystrophy with macular staphyloma (CFAP410)
- Allelic: Retinitis pigmentosa 71 (IFT172)
- Allelic: Retinitis pigmentosa 80 (IFT140)
- Allelic: Retinitis pigmentosa 81 (IFT43)
- Allelic: Senior-Loken syndrome 8 (WDR19)
- Allelic: Weyers acrofacial dysostosis (EVC, EVC2)
- Cranioectodermal dysplasia 1 (IFT122)
- Cranioectodermal dysplasia 2 (WDR35)
- Cranioectodermal dysplasia 3 (IFT43)
- Endocrine-cerebroosteodysplasia (CILK1)
- Hydrolethalus syndrome (HYLS1)
- Hydrolethalus syndrome 2 (KIF7)
- Hydrolethalus syndrome 2 (OFD1)
- Joubert syndrome 12 (KIF7)
- Joubert syndrome 12 (OFD1)
- Joubert syndrome 21 (CSPP1)
- Orofaciodigital syndrome XIV (C2CD3)
- Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
- Short-rib thoracic dysplasia 11 with/-out polydactyly (WDR34)
- 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 18 with polydactyly (IFT43)
- Short-rib thoracic dysplasia 19 with/-out polydactyly (IFT81)
- Short-rib thoracic dysplasia 2 with/-out polydactyly (IFT80)
- Short-rib thoracic dysplasia 20 with polydactyly (INTU)
- 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 (WDR60)
- Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
- Spondylometaphyseal dysplasia, axial (CFAP410)
Erbgänge, Vererbungsmuster etc.
- AD und/oder AR
- AD und/oder AR und/oder Dig und/oder Sus
- AR
- AR und/oder Dig
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q77.2
Bioinformatik und klinische Interpretation
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