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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessChondrodysplasie, metaphysär; Differentialdiagnose

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Summary

Short information

CP9182_KI

ID
CP9182
Number of loci
Loci typeCount
Gen8
Accredited laboratory test
Examined sequence length
4,0 kb (Core-/Core-canditate-Genes)
13,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

CP9182_DH

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
COL10A12043NM_000493.4AD
RMRP300NR_003051.3AR
RUNX21566NM_001024630.4AD
EFL13382NM_001040610.3AR
MMP131416NM_002427.4AD
MMP92124NM_004994.3AR
PTH1R1782NM_000316.3AD, AR
SBDS753NM_016038.4AR

Informations about the disease

Clinical Comment

illness_ClinicalComment_CP9182

 

Synonyms
  • Alias: Chondrodysplasie, metaphysäre, AR
  • Alias: McKusick-Chondrodysplasie
  • Allelic: Aplastic anemia, susceptibility to (SBDS)
  • Anauxetic dysplasia 1 (RMRP)
  • Cartilage-hair hypoplasia (RMRP)
  • Chondrodysplasia, Blomstrand type (PTH1R)
  • Cleidocranial dysplasia (RUNX2)
  • Cleidocranial dysplasia, forme fruste, dental anomalies only (RUNX2)
  • Cleidocranial dysplasia, forme fruste, with brachydactyly (RUNX2)
  • Eiken syndrome (PTH1R)
  • Failure of tooth eruption, primary (PTH1R)
  • Metaphyseal anadysplasia 1 (MMP13)
  • Metaphyseal anadysplasia 2 (MMP9)
  • Metaphyseal chondrodysplasia, Murk Jansen type (PTH1R)
  • Metaphyseal chondrodysplasia, Schmid type (COL10A1)
  • Metaphyseal dysplasia with maxillary hypoplasia +/- brachydactyly (RUNX2)
  • Metaphyseal dysplasia without hypotrichosis (RMRP)
  • Metaphyseal dysplasia, Spahr type (MMP13)
  • Shwachman-Diamond syndrome 1 (SBDS)
  • Shwachman-Diamond syndrome 2 (EFL1)
  • Spondyloepimetaphyseal dysplasia, Missouri type (MMP13)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined