Deutsch
IllnessCartilage-hair hypoplasia / anauxetic dysplasia spectrum, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for the Cartilage-hair hypoplasia /anauxetic dysplasia spectrum comprising 2 or altogether 10 curated genes according to the clinical signs
ID
MP6277
Number of genes
9
Accredited laboratory test
Examined sequence length
3,4 kb (Core-/Core-canditate-Genes)
18,6 kb (Extended panel: incl. additional genes)
18,6 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
illness_ClinicalComment_MP6277
Synonyms
- Alias: Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome
- Alias: Knorpel-Haar-Hypoplasie
- Alias: Metaphysäre Dysplasie ohne Hypotrichose
- Alias: Spondyloepimetaphyseal dysplasia, Menger type (RMRP)
- Alias: Spondyloepimetaphyseal dysplasia, anauxetic type
- Allelic: Failure of tooth eruption, primary (PTH1R)
- Anauxetic dysplasia 1 (RMRP)
- Anauxetic dysplasia 2 (POP1)
- Anauxetic dysplasia 3 (NEPRO)
- Aplastic anemia, susceptibility to (SBDS)
- Cartilage-hair hypoplasia (RMRP)
- Chondrodysplasia, Blomstrand type (PTH1R)
- Combined cellular + humoral immune defects with granulomas (RAG1, RAG2)
- Eiken syndrome (PTH1R)
- Metaphyseal chondrodysplasia, Murk Jansen type (PTH1R)
- Metaphyseal chondrodysplasia, Schmid type (COL10A1)
- Metaphyseal dysplasia without hypotrichosis (RMRP)
- Omenn syndrome (DCLRE1C, RAG1, RAG2)
- Schimke immunoosseous dysplasia (SMARCAL1)
- Severe combined immunodeficiency, Athabascan type (DCLRE1C)
- Severe combined immunodeficiency, B cell-negative (RAG1, RAG2)
- Shwachman-Diamond syndrome (SBDS)
- a/b T-cell lymphopenia with g/d T-cell expansion, severe cytomegalovirus infection, autoimm. (RAG1)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q77.7
Bioinformatics and clinical interpretation
No text defined