Deutsch
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)
20,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
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