ErkrankungThorax-Dystrophien, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Thorax-Dystrophien mit 23 bzw. zusammen genommen 26 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
TP2297
Anzahl Gene
34
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
63,5 kb (Core-/Basis-Gene)
105,6 kb (Erweitertes Panel)
105,6 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 |
---|---|---|---|
C2CD3 | 5892 | AR | |
CEP120 | 2961 | AR | |
CSPP1 | 3666 | AR | |
DYNC2H1 | 12945 | AR und/oder Dig | |
DYNC2I1 | 3201 | AR | |
EVC | 2979 | AD und/oder AR | |
EVC2 | 3927 | AD und/oder AR | |
IFT140 | 4389 | AR | |
IFT172 | 5250 | AR | |
IFT43 | 642 | AR | |
IFT80 | 2334 | AR | |
NEK1 | 3777 | AD und/oder AR und/oder Dig und/oder Sus | |
TTC21B | 3951 | AD und/oder AR | |
WDR19 | 4029 | AR | |
WDR35 | 3546 | AR | |
CFAP410 | 1507 | AR | |
CILK1 | 1899 | AR | |
DDX59 | 1860 | AR | |
DYNC2I2 | 1611 | AR | |
DYNC2LI1 | 1438 | AR | |
DYNLT2B | 434 | AR | |
FGFR3 | 2421 | AD und/oder AR und/oder SMu | |
HYLS1 | 900 | AR | |
IFT122 | 3879 | AR | |
IFT52 | 1327 | AR | |
IFT81 | 2158 | AR | |
INTU | 2829 | AR | |
KIAA0586 | 5005 | AR | |
KIAA0753 | 2989 | AR | |
KIF7 | 4032 | AR und/oder Dig | |
OFD1 | 3039 | XL | |
TMEM107 | 514 | AR | |
TRAF3IP1 | 1878 | AR | |
TRPV6 | 2313 | AR |
Infos zur Erkrankung
Synonyme
- Alias: Asphyxiierende Thoraxdystrophie (des Neugeborenen)
- Alias: Jeune Asphyxiyting Thorax Dystrophy, JATD
- Alias: Jeune Syndrom
- Allelic: Amyotrophic lateral sclerosis, susceptibility to, 24 (NEK1)
- Allelic: Bladder cancer, somatic; Cervical cancer, somatic; Colorectal cancer, somatic (FGFR3)
- Allelic: CATSHL syndrome (FGFR3)
- Allelic: Cervical cancer, somatic (FGFR3)
- Allelic: Colorectal cancer, somatic (FGFR3)
- Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
- Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 10 (CILK1)
- Allelic: Hypochondroplasia (FGFR3)
- Allelic: Joubert syndrome 23 (KIAA0586)
- Allelic: Joubert syndrome 29 (TMEM107)
- Allelic: LADD syndrome (FGFR3)
- Allelic: Meckel syndrome 13 (TMEM107)
- Allelic: Muenke syndrome (FGFR3)
- Allelic: Naevus, epidermal, somatic (FGFR3)
- Allelic: Nephronophthisis 12 (TTC21B)
- Allelic: Nephronophthisis 13 (WDR19)
- Allelic: Retinal dystrophy with macular staphyloma (CFAP410 syn. C21orf2)
- Allelic: Retinal dystrophy with macular staphyloma (CFAP410)
- Allelic: Retinitis pigmentosa 23 (OFD1)
- Allelic: Retinitis pigmentosa 71 (IFT172)
- Allelic: Retinitis pigmentosa 80 (IFT140)
- Allelic: Retinitis pigmentosa 81 (IFT43)
- Allelic: Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
- Allelic: Spermatocytic seminoma, somatic (FGFR3)
- Allelic: Thanatophoric dysplasia, type I + II (FGFR3)
- Achondroplasia, homozygous (FGFR3)
- Acrocallosal syndrome (KIF7)
- Al-Gazali-Bakalinova syndrome (KIF7)
- Alias: Asphyxiierende Thoraxdystrophie des Neugeborenen
- Allelic: Bardet-Biedl syndrome 22 (IFT74)
- Allelic: Spermatogenic failure 58 (IFT74)
- Cardioacrofacial dysplasia 1 (PRKACA)
- Cranioectodermal dysplasia 1 (IFT122)
- Cranioectodermal dysplasia 2 (WDR35)
- Cranioectodermal dysplasia 3 (IFT43)
- Cranioectodermal dysplasia 4 (WDR19)
- Ellis-van Creveld syndrome (EVC, EVC2)
- Endocrine-cerebroosteodysplasia (CILK1)
- Hydrolethalus syndrome (HYLS1)
- Hydrolethalus syndrome 2 (KIF7)
- Hyperparathyroidism, transient neonatal (TRPV6)
- Joubert syndrome 10 (OFD1)
- Joubert syndrome 12 (KIF7)
- Joubert syndrome 21 (CSPP1)
- Joubert syndrome 31 (CEP120)
- Joubert syndrome 40 (IFT74)
- Orofaciodigital syndrome I (OFD1)
- Orofaciodigital syndrome V (DDX59)
- Orofaciodigital syndrome XIV (C2CD3)
- Orofaciodigital syndrome XV (KIAA9753)
- Orofaciodigital syndrome XVI (TMEM107)
- Orofaciodigital syndrome XVII (INTU)
- SADDAN (FGFR3)
- Senior-Loken syndrome 8 (WDR19)
- Senior-Loken syndrome 9 (TRAF3IP1)
- Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
- Short-rib thoracic dysplasia 11 with/-out polydactyly (DYNC2I2 syn. 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 (DYNLT2B syn. 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 [Mainzer-Saldino syndrome] (IFT140)
- Spondylometaphyseal dysplasia, axial (CFAP410 syn. C21orf2)
- Spondylometaphyseal dysplasia, axial (CFAP410)
- Weyers acrofacial dysostosis (EVC, EVC2)
Erbgänge, Vererbungsmuster etc.
- AD und/oder AR
- AD und/oder AR und/oder Dig und/oder Sus
- AD und/oder AR und/oder SMu
- AR
- AR und/oder Dig
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q67.8
Bioinformatik und klinische Interpretation
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