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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessThoracic dystrophies, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Thoracic dystrophies comprising 15 core as well as core candidate genes and altogether 37 curated genes according to the clinical signs

ID
TP2297
Number of genes
34 Accredited laboratory test
Examined sequence length
63,5 kb (Core-/Core-canditate-Genes)
105,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
C2CD35892AR
CEP1202961AR
CSPP13666AR
DYNC2H112945AR, digenisch
DYNC2I13201AR
EVC2979AD, AR
EVC23927AD, AR
IFT1404389AR
IFT1725250AR
IFT43642AR
IFT802334AR
NEK13777AR
TTC21B3951AD, AR
WDR194029AR
WDR353546AR
CFAP4101507AR
CILK11899AR
DDX591860AR
DYNC2I21611AR
DYNC2LI11438AR
DYNLT2B434AR
FGFR32421AD
HYLS1900AR
IFT1223879AR
IFT521327AR
IFT812158AR
INTU2829AR
KIAA05865005AR
KIAA07532989AR
KIF74032AR
OFD13039XL
TMEM107514AR
TRAF3IP11878AR
TRPV62313AD

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q67.8

Bioinformatics and clinical interpretation

No text defined