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

IllnessSpondyloepiphyseal dysplasia, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Spondyloepiphyseal Dysplasia comprising 1 guideline-curated gene and altogether 18 curated genes according to the clinical signs

ID
SP1029
Number of genes
7 Accredited laboratory test
Examined sequence length
17,7 kb (Core-/Core-canditate-Genes)
20,9 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
ACAN7593AD
CCN61119AR
CHST31440AR
COL2A14464AD
TRAPPC2423AR
TRPV42616AD
MBTPS13181AR

Informations about the disease

Clinical Comment

No ORPHA#: large group of diseases

 

Synonyms
  • Spondyloepiphyseal dysplasia, sensorineural hearing loss, ID + Leber congenital amaurosis (NMNAT1)
  • ?Spondyloepimetaphyseal dysplasia, Di Rocco type (UFSP2)
  • Allelic: Autism, susceptibility to, XL 5 (RPL10)
  • Allelic: Carpal tunnel syndrome (COMP)
  • Allelic: Deafness, AD 13 (COL11A2)
  • Allelic: Deafness, AD 37 (COL11A1)
  • Allelic: Deafness, AR 53 (COL11A2)
  • Allelic: Hereditary motor and sensory neuropathy, type IIc (TRPV4)
  • Allelic: Leber congenital amaurosis 9 (NMNAT1)
  • Allelic: Legg-Calve-Perthes disease (COL2A1)
  • Allelic: Lumbar disc herniation, susceptibility to (COL11A1)
  • Allelic: Neuronopathy, distal hereditary motor, type VIII (TRPV4)
  • Allelic: Osteoarthritis with mild chondrodysplasia (COL2A1)
  • Allelic: Parastremmatic dwarfism (TRPV4)
  • Allelic: Schwartz-Jampel syndrome, type 1 (HSPG2)
  • Allelic: Short stature, adv. bone age, with/-out early osteoarthritis +/- osteochondr. diss. (ACAN)
  • Allelic: Sodium serum level QTL 1 (TRPV4)
  • Allelic: Spondyloepimetaphyseal dysplasia, aggrecan type (ACAN)
  • Allelic: Stickler sydrome, type I, nonsyndromic ocular (COL2A1)
  • Allelic: Stickler syndrome, type I (COL2A1)
  • Allelic: Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
  • Arthropathy, progressive pseudorheumatoid, of childhood (CCN6)
  • Avascular necrosis of femoral head, primary, 2 (TRPV4)
  • Brachyolmia type 3 (TRPV4)
  • Czech dysplasia (COL2A1)
  • Digital arthropathy-brachydactyly, familial (TRPV4)
  • Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2)
  • Epiphyseal dysplasia, multiple, 1 (COMP)
  • Epiphyseal dysplasia, multiple, with myopia + deafness (COL2A1)
  • Fibrochondrogenesis 1 (COL11A1)
  • Fibrochondrogenesis 2 (COL11A2)
  • GM1-gangliosidosis, types I, II, III (GLB1)
  • Hip dysplasia, Beukes type (UFSP2)
  • Intellectual developmental disorder, XL, syndromic, 35 (RPL10)
  • Kniest dysplasia (COL2A1)
  • Lowry-Wood syndrome (RNA4ATAC)
  • Marshall syndrome (COL11A1)
  • Metatropic dysplasia (TRPV4)
  • Microcephalic osteodysplastic primordial dwarfism, type I (RNA4ATAC)
  • Mucopolysaccharidosis IVA (GALNS)
  • Mucopolysaccharidosis type IVB, Morquio (GLB1)
  • Otospondylomegaepiphyseal dysplasia, AD (COL11A2)
  • Otospondylomegaepiphyseal dysplasia, AR (COL11A2)
  • Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
  • Pseudoachondroplasia (COMP)
  • Roifman syndrome (RNA4ATAC)
  • Scapuloperoneal spinal muscular atrophy (TRPV4)
  • Schimke immunoosseous dysplasia (SMARCAL1)
  • Spondyloepimetaphyseal dysplasia Strudwick type (COL2A1)
  • Spondyloepiphyseal dysplasia congenita (COL2A1)
  • Spondyloepiphyseal dysplasia tarda (TRAPPC2)
  • Spondyloepiphyseal dysplasia tarda with progressive arthropathy (CCN6)
  • Spondyloepiphyseal dysplasia with congenital joint dislocations (CHST3)
  • Spondyloepiphyseal dysplasia, Kimberley type (ACAN)
  • Spondyloepiphyseal dysplasia, Kondo-Fu type (MBTPS1)
  • Spondyloepiphyseal dysplasia, Maroteaux (TRPV4)
  • Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
  • Spondyloepiphyseal dysplasia, sensorineural hearing loss, ID + Leber congenital amaurosis (NMNAT1)
  • Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
  • Spondyloperipheral dysplasia (COL2A1)
  • Stickler syndrome, type II (COL11A1)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q77.7

Bioinformatics and clinical interpretation

No text defined