Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 02-06-2009
Symbol PSACH
Location 19p13.11
Name pseudoachondroplasia
Other name(s) spondyloepiphyseal dysplasia, pseudoachondroplastic
Corresponding gene COMP
Main clinical features
  • disproportionate dwarfism and laxity of joints and ligaments
  • rhizomelic dwarfism, with abnormalities of the metaphyses and epiphyses and a characteristic anterior beaking of the vertebral bodies, see also EDM1
    • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name cartilage oligomeric protein (COMP) with a deletion of a short triplet repeat (GAC) in the calmodulin-like region
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    insertion-deletion   truncated protein 47 p100 of the mutation identified
    unknown     His587-->Arg) in the C-terminal, collagen-binding domain
    Remark(s) serum or plasma cartilage oligomeric matrix protein concentration is a diagnostic marker in pseudoachondroplasia
    Genotype/Phenotype correlations
  • mutants D475N and D469Delta are retained within the endoplasmic reticulum of tendon cells similar to what is known from chondrocytes, whereas mutant H587R is secreted like wildtype COMP (Weirich 2007)