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

IllnessSensenbrenner syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Sensenbrenner syndrome comprising 6 or altogether 28 curated genes according to the clinical signs

ID
SP0790
Number of genes
27 Accredited laboratory test
Examined sequence length
17,9 kb (Core-/Core-canditate-Genes)
92,6 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
IFT1223879AR
IFT1404389AR
IFT43642AR
IFT521327AR
WDR194029AR
WDR353546AR
CEP1202961AR
CEP2907440AR
DYNC2H112945AR
DYNC2LI11438AR
DYNLT2B434AR
EVC2979AD, AR
EVC23927AD, AR
IFT1725250AR
IFT802334AR
IFT812158AR
INTU2829AR
IQCB11797AR
KIAA05865005AR
NEK13777AR
NPHP12202AR
NPHP44281AR
SDCCAG82142AR
TRAF3IP11878AR
TTC21B3951AD, AR
WDR341620AR
WDR603361AR

Informations about the disease

Clinical Comment

Congenital skeletal + ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis, ocular anomalies (mainly retinitis pigmentosa)

DPH1 mutations: AR intellectual disability with short stature, craniofacial, ectodermal anomalies

DD: Jeune asphyxiating thoracic dystrophy (IFT80 mutations), Mainzer-Saldino syndrome (IFT140 mutations), Ellis-van Creveld syndrome (EVC/EVC2 mutations), short rib-polydactyly syndromes (SRPS I-V); Senior-Loken syndrome (WDR19 mutations); EEM syndrome, i.e. ectodermal dysplasia, ectrodactyly [split hand-split foot malformation], progressive macular dystrophy (CDH3 mutations)

 

Synonyms
  • Alias: Cranioectodermal dysplasia 1, 2, 3, 4
  • Alias: Dysplasie, kranioektodermale 1-4
  • Alias: Levin syndrome 1
  • Allelic: Bardet-Biedl syndrome 14 (CEP290)
  • Allelic: Bardet-Biedl syndrome 16 (SDCCAG8)
  • Allelic: Bardet-Biedl syndrome 20 IFT172)
  • Allelic: Joubert syndrome 23 (KIAA0586)
  • Allelic: Joubert syndrome 31 (CEP120)
  • Allelic: Joubert syndrome 4 (NPHP1)
  • Allelic: Joubert syndrome 5 (CEP290)
  • Allelic: Leber congenital amaurosis 10 (CEP290)
  • Allelic: Meckel syndrome 4 (CEP290)
  • Allelic: Nephronophthisis 1, juvenile (NPHP1)
  • Allelic: Nephronophthisis 13 (WDR19)
  • Allelic: Nephronophthisis 4 (NPHP4)
  • Allelic: Orofaciodigital syndrome XVII (INTU)
  • Allelic: Retinitis pigmentosa 71 (IFT172)
  • Allelic: Retinitis pigmentosa 80 (IFT140)
  • Allelic: Retinitis pigmentosa 81 (IFT43)
  • Allelic: Senior-Loken syndrome 8 (WDR19)
  • Allelic: Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
  • Allelic: Short-rib thoracic dysplasia 11 with/-out polydactyly (WDR34)
  • Allelic: Short-rib thoracic dysplasia 13 with/-out polydactyly (CEO120)
  • Allelic: Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
  • Allelic: Short-rib thoracic dysplasia 15 with polydactyly (DYNC2LI1)
  • Allelic: Short-rib thoracic dysplasia 16 with/-out polydactyly (ITF52)
  • Allelic: Short-rib thoracic dysplasia 18 with polydactyly (IFT43)
  • Allelic: Short-rib thoracic dysplasia 19 with/-out polydactyly (IFT81)
  • Allelic: Short-rib thoracic dysplasia 2 with/-out polydactyly (IFT80)
  • Allelic: Short-rib thoracic dysplasia 20 with polydactyly )INTU)
  • Allelic: Short-rib thoracic dysplasia 3 with/-out polydactyly (DYNC2H1)
  • Allelic: Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)
  • Allelic: Short-rib thoracic dysplasia 6 with/-out polydactyly (NEK1)
  • Allelic: Short-rib thoracic dysplasia 7 with/-out polydactyly (WDR35)
  • Allelic: Short-rib thoracic dysplasia 8 with/-out polydactyly (WDR8)
  • Allelic: Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
  • Cranioectodermal dysplasia 1 (IFT122)
  • Cranioectodermal dysplasia 2 (WDR35)
  • Cranioectodermal dysplasia 3 (IFT43)
  • Cranioectodermal dysplasia 4 (WDR19)
  • Cranioectodermal dysplasia [genereviews] (IFT140)
  • Cranioectodermal dysplasia [genereviews] (IFT52)
  • Ellis-van Creveld syndrome (EVC, EVC2)
  • Joubert syndrome [panelapp] (KIAA0753)
  • Orofaciodigital syndrome XV (KIAA0753)
  • Orofaciodigital syndrome XVII (INTU)
  • Senior-Loken syndrome 1 (NPHP1)
  • Senior-Loken syndrome 4 (NPHP4)
  • Senior-Loken syndrome 5 (IQBC1)
  • Senior-Loken syndrome 6 (CEP290)
  • Senior-Loken syndrome 7 (SDCCAG8)
  • Senior-Loken syndrome 9 (TRAF3IP1)
  • Short-rib thoracic dysplasia 17 with/-out polydactyly (TXTEX1D2)
  • Short-rib thoracic dysplasia 19 with or without polydactyly (IFT81)
  • Short-rib thoracic dysplasia 20 with polydactyly (INTU)
  • Short-rib thoracic dysplasia 21 without polydactyly (KIAA0753)
  • Weyers acrofacial dysostosis (EVC, EVC2)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.-

Bioinformatics and clinical interpretation

No text defined