Deutsch
IllnessOsteoarthropathy, primary hypertrophic
Summary
Short information
A curated panel containing 4 genes for the comprehensive analysis of the genetically caused forms of Osteoarthropathy, primary hypertrophic
ID
OP8811
Number of genes
4
Accredited laboratory test
Examined sequence length
4,3 kb (Core-/Core-canditate-Genes)
5,7 kb (Extended panel: incl. additional genes)
5,7 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
Genetically + clinically heterogeneous: drumstick fingers + osteoarthropathy with varying degrees of pachydermia, delayed fontanel closure + congenital heart defects; 2 forms, pachydermoperiosteosis + cranio-osteoarthropathy
Synonyms
- Alias: Familial idiopathic osteoarthropathy of childhood
- Allelic: Digital clubbing, isolated congenital (HPGD)
- Cranioosteoarthropathy (HPGD)
- Fibrodysplasia ossificans progressiva (ACVR1)
- Hip dysplasia, Beukes type (UFSP2)
- Hypertrophic osteoarthropathy, primary, AR 1 (HPGD)
- Hypertrophic osteoarthropathy, primary, AR 2 (SLCO2A1)
- Pachydermoperiostosis (SLCO2A1, HPGD)
- Spondyloepimetaphyseal dysplasia, Di Rocco type (UFSP2)
- Touraine-Solente-Gole syndrome (HPGD)
Heredity, heredity patterns etc.
- AD
- AR
- digenisch
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
M89.4-
Bioinformatics and clinical interpretation
No text defined