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rhizomelic chondrodysplasia punctata, type 1 (complementation group 11)
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
Related
PEX7 (peroxisomal targeting signal 2 receptor) gene
phytanic acid
phytanoyl-CoA dioxygenase, peroxisomal; phytanic acid oxidase; phytanoyl-CoA alpha-hydroxylase; phyH (PHYH, PAHX)
plasmalogen
General
rhizomelic chondrodysplasia punctata
Properties
ACCUMULATION: phytanic acid
DEFICIENCY: plasmalogen
DIHYDROXY-ACETONE-PHOSPHATE-ACYLTRANSFERASE
ALKYLDIHYDROXYACETONE-PHOSPHATE-SYNTHASE
phytanoyl-CoA dioxygenase, peroxisomal
peroxisomal 3-ketoacyl CoA thiolase
:ENGLISH inability to import
Database Correlations
OMIM correlations
MORBIDMAP 601757
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: 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: 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: 9090383