IEMbase 0277: PEX7-related RCDP type 1
Scope
| Field | Value |
|---|---|
| IEMbase ID | 277 |
| Nosology | 14.5.03.01 |
| Gene | PEX7 |
| External IDs | OMIM:215100; ORPHA:309789 |
| Generated mapping | MAPPED to Rhizomelic_Chondrodysplasia_Punctata_Type_1.yaml |
| Candidate DisMech targets | Rhizomelic_Chondrodysplasia_Punctata_Type_1.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive PEX7 peroxisomal targeting signal 2 receptor deficiency, also called rhizomelic chondrodysplasia punctata type 1 (RCDP1). Prevalence is listed as 1:100,000. Treatability is marked unknown and the cached JSON has no treatment rows.
Characteristic clinical rows include cataract, cervical stenosis, contractures, joint contractures, coronal clefts of thoracic and lumbar vertebral bodies, dysmorphic features, metaphyseal dysplasia, skeletal dysplasia, and disproportionate shortening of the humeri and femora. Additional rows include epiphyseal calcific stippling, epiphyseal dysplasia, growth retardation, congenital heart defects, sensorineural deafness, epilepsy, ichthyosis, recurrent pneumonia/otitis, microcephaly, severe intellectual deficiency, spastic paresis, clubfoot, and craniofacial dysmorphism.
The biochemical pattern is low RBC plasmalogens, normal VLCFA and bile-acid intermediates, and normal-to-increased phytanic acid.
DisMech phenotype coverage
Rhizomelic_Chondrodysplasia_Punctata_Type_1.yaml is the correct local target.
It captures PEX7 PTS2 import failure, plasmalogen deficiency, phytanic-acid
accumulation, skeletal dysplasia, congenital cataract, neurologic impairment,
rhizomelia, chondrodysplasia punctata, coronal cleft vertebrae, postnatal
growth deficiency, intellectual disability, seizures, joint contractures,
plasmalogen/phytanic-acid testing, molecular diagnosis, dietary phytanic-acid
restriction, supportive rehabilitation, and cataract extraction.
Concordance and completeness
Judgement: correct mapping with high concordance.
IEMbase and DisMech agree on PEX7/RCDP1 identity, autosomal recessive inheritance, plasmalogen deficiency, phytanic-acid involvement, cataract, rhizomelic skeletal dysplasia, epiphyseal stippling, coronal clefts, growth failure, intellectual disability, seizures, and joint contractures. DisMech is richer for the PTS2 import mechanism, diagnostic workflow, and management.
IEMbase adds useful granularity for cervical stenosis, thoracic versus lumbar coronal clefts, recurrent pneumonia/otitis, congenital heart defects, sensorineural deafness, ichthyosis, microcephaly, and spastic paresis.
Curation actions
- Keep the mapping to
Rhizomelic_Chondrodysplasia_Punctata_Type_1.yaml. - Use IEMbase's cervical-spine, infection, cardiac, hearing, skin, and subtype-specific skeletal rows as enrichment prompts.