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IllnessMorbus Caffey, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Caffey syndrome comprising 1 core gene and altogether 6 curated genes according to the clinical signs

ID
CP0808
Number of genes
6 Accredited laboratory test
Examined sequence length
4,4 kb (Core-/Core-canditate-Genes)
15,9 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

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
COL1A14395NM_000088.4AD
FGF23756NM_020638.3AD
GALNT31902NM_004482.4AR
GLB12034NM_000404.4AR
GNPTAB3771NM_024312.5AR
KL3039NM_004795.4AR

Informations about the disease

Synonyms
  • Alias: Infantile cortical hyperostosis
  • Allelic: Bone mineral density variation QTL, osteoporosis (COL1A1)
  • Allelic: Combined osteogenesis imperfecta + Ehlers-Danlos syndrome 1 (COL1A1)
  • Allelic: Ehlers-Danlos syndrome, arthrochalasia type, 1 (COL1A1)
  • Allelic: Hypophosphatemic rickets, AD (FGF23)
  • Allelic: Osteogenesis imperfecta, type I-IV (COL1A1)
  • Caffey disease (COL1A1)
  • GM1-gangliosidosis, type I-III (GLB1)
  • Mucolipidosis II + III alpha/beta (GNPTAB)
  • Mucopolysaccharidosis type IVB [Morquio] (GLB1)
  • Tumoral calcinosis, hyperphosphatemic, familial, 1 (GALNT3)
  • Tumoral calcinosis, hyperphosphatemic, familial, 2 (FGF23)
  • Tumoral calcinosis, hyperphosphatemic, familial, 3 (KL)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined