IllnessChondrodysplasia punctata, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Chondrodysplasia punctata comprising 8 or 18 curated genes according to the clinical signs
ID
CP7654
Number of genes
10
Accredited laboratory test
Examined sequence length
8,3 kb (Core-/Core-canditate-Genes)
14,3 kb (Extended panel: incl. additional genes)
14,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Gene panel
Informations about the disease
Clinical Comment
Group of disorders
Synonyms
- Alias: Arylsulfatase E Deficiency (CDPX1)
- Alias: Brachytelephalangic chondrodysplasia punctata, BCDP
- Alias: Chondrodysplasia punctata, CDP
- Alias: Chondrodysplasie p.
- Allelic: Cataracts, spastic paraparesis + speech delay (FAR1)
- Allelic: Pelger-Huet anomaly (LBR)
- Allelic: Peroxisome biogenesis disorder 2A, Zellweger (PEX5)
- Allelic: Peroxisome biogenesis disorder 2B (PEX5)
- Allelic: Reynolds syndrome (LBR)
- Antley-Bixler syndrome with genital anomalies + disordered steroidogenesis (POR)
- CK syndrome: Mental retardation, XL, thin habitus, cortical malformation (NSDHL)
- Chondrodysplasia punctata, XLD (EBP)
- Chondrodysplasia punctata, rhizomelic, type 2 (GNPAT)
- Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome (NSDHL)
- Conradi-Hünermann syndrome, Happle syndrome (EBP)
- Desmosterolosis (DHCR25)
- Disordered steroidogenesis due to cytochrome P450 oxidoreductase (POR)
- Greenberg skeletal dysplasia (LBR)
- Keutel syndrome: Pulm. stenoses, brachytelephalangy, deafness, abnormal cartilage ossification (MGP)
- Lathosterolosis (SC5D)
- Lipodystrophy, congenital generalized, type 1 (AGPS)
- Male EBP disorder with neurologic defects [MEND] syndrome (EBP)
- Microcephaly, congenital cataract + psoriasiform dermatitis (MSMO1)
- Pelger-Huet anomaly with mild skeletal anomalies (LBR)
- Peroxisomal fatty acyl-CoA reductase 1 disorder (FAR1)
- Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (GGCX)
- Pulmonic stenoses, brachytelephalangy, deaf, abnormal cartilage ossification/calcification (MGP)
- Refsum peroxisomal disease 9B (PEX7)
- Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
- Rhizomelic chondrodysplasia punctata, type 2 (GNPAT)
- Rhizomelic chondrodysplasia punctata, type 3 (AGPS)
- Rhizomelic chondrodysplasia punctata, type 4 (FAR1)
- Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
- Ritscher-Schinzel syndrome 3 (VPS35L)
- Vitamin K-dependent clotting factors, combined deficiency of, 1 (GGCX)
- XLD chondrodysplasia punctata as phenocopy of warfarin embryopathy (VKORC1)
Heredity, heredity patterns etc.
- AD
- AR
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q77.3
Bioinformatics and clinical interpretation
No text defined