rhizomelic chondrodysplasia punctata, type 1 (complementation group 11)
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Introduction
Complementation group 11 of peroxisome biogenesis disorders.
Genetics
- associated with defects in PEX7
Clinical manifestations
- dwarfism, rhizomelic shortening of femur & humerus
- vertebral disorders
- cataract
- cutaneous lesions, erythroderma, ichthyosis
- severe mental retardation
- koala bear facies
- nasal bone hypoplasia
More general terms
References
- ↑ Braverman N et al Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nature Genetics 15:369-76 1997 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9090381
Motley AM et al. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Nature Genetics 15:377-80 1997 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9090382
Purdue PE et al. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nature Genetics 15:381-4 1997 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9090383