Peroxisome biogenesis disorder 9b

Preferred Label : Peroxisome biogenesis disorder 9b;

Symbol : PBD9B;

CISMeF acronym : CGR; CG11; PBD9B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Refsum disease, adult, 2; Peroxisome biogenesis disorder, pex7-related, atypical;

Included titles and symbols : Peroxisome biogenesis disorder, complementation group 11; Peroxisome biogenesis disorder, complementation group r; CG11; CGR;

Description : While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1; 215100), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (266500) and patients carried this diagnosis. Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see 214100.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the peroxisome biogenesis factor 7 gene (PEX7, 601757.0002);

Laboratory abnormalities : PBD complementation group R; Elevated plasma phytanic acid levels; PBD complementation group 11;

Prefixed ID : #614879;

Details

Origin ID

614879;

UMLS CUI

C2749346;

Automatic exact mappings (from CISMeF team)
- CG 11 [MeSH Supplementary Concept]
- Packed Red Blood Cells [NCIt concept]
- Packed red blood cells (product) [SNOMED CT concept]
- peroxisome biogenesis disorder, complementation group 11 [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group 11 [MeSH concept]
- peroxisome biogenesis disorder, complementation group R [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group R [MeSH concept]
- red cell concentrate [Blood Transfusion thesaurus concept]
- refsum disease, adult, 2 [MeSH concept]
- refsum disease, adult, 2 [MeSH Supplementary Concept]
False automatic mappings
- Include [NCIt concept]
- Including (qualifier value) [SNOMED CT concept]
- including [SNOMED Notion]
Genes related to phenotype
- Peroxisome biogenesis factor 7 [OMIM gene]
HPO term(s)
- Anosmia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Cataract [HPO term]
- Elevated levels of phytanic acid [HPO term]
- Ichthyosis [HPO term]
- Intellectual disability [HPO term]
- Muscle weakness [HPO term]
- Pes cavus [HPO term]
- Polyneuropathy [HPO term]
- Rod-cone dystrophy [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Peroxisome biogenesis disorder [ORDO Disease]
- Refsum disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- refsum disease, adult, 2 [MeSH Supplementary Concept]
- refsum disease, adult, 2 [MeSH concept]

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