IllnessHypertrophic osteoarthropathy, primary
Summary
Short information
Three curated single gene sequence analyses according to the clinical suspicion primaty hypertrophic osteoarthropathy
ID
TS0370
Number of genes
2
Accredited laboratory test
Examined sequence length
2,8 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Informations about the disease
Clinical Comment
Digital clubbing + osteoarthropathy, with variable pachydermia, delayed closure of the fontanels, congenital heart disease. Two types of PHO: pachydermoperiostosis + cranio-osteoarthropathy
Synonyms
- Alias: Idiopathic hypertrophic osteoarthropathy
- Alias: Ranioosteoarthropathy
- Allelic: Cranioosteoarthropathy (HPGD)
- Digital clubbing, isolated congenital (HPGD)
- Fibrodysplasia ossificans progressiva (ACVR1)
- Hypertrophic osteoarthropathy, primary, AR 1 (HPGD)
- Hypertrophic osteoarthropathy, primary, AR 2 (SLCO2A1)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
M89.4-
Bioinformatics and clinical interpretation
No text defined