Deutsch
IllnessThanatophoric dysplasia, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Thanatophoric dysplasia comprising 8 and altogether 33 curated genes according to the clinical signs
ID
TP8374
Number of genes
9
Accredited laboratory test
Examined sequence length
26,1 kb (Core-/Core-canditate-Genes)
39,3 kb (Extended panel: incl. additional genes)
39,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Gene panel
Informations about the disease
Clinical Comment
Primary bone dysplasia with micromelia, micromelia, macrocephaly, narrow thorax, distinctive facial features; type 1 +2 differentiated from each other by femur + skull shape
Synonyms
- 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: Amyotrophic lateral sclerosis, susceptibility to, 24 (NEK1)
- 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: Nephronophthisis 12 (TTC21B)
- Allelic: Nephronophthisis 13 (WDR19)
- 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)
- 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)
Heredity, heredity patterns etc.
- AD
- AR
- co-dominant
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q77.1
Bioinformatics and clinical interpretation
No text defined