IllnessOsteoarthropathy, primary hypertrophic; differential diagnosis

Summary

Short information

A curated panel containing 3 core candidate genes as well as an adiitional gene for the comprehensive analysis of the genetically caused forms of Osteoarthropathy, primary hypertrophic

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)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ACVR1	1530	102576	NM_001105.5	AD
HPGD	801	601688	NM_000860.6	AR
SLCO2A1	1932	601460	NM_005630.3	AR
UFSP2	1422	611482	NM_018359.5	AD

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined