IEMbase 0197: LBR-related Greenberg skeletal dysplasia
Scope
| Field | Value |
|---|---|
| IEMbase ID | 197 |
| Nosology | 14.7.06.01 |
| Gene | LBR |
| External IDs | OMIM:215140; ORPHA:1426 |
| Generated mapping | UNMAPPED; best candidate Disorder_of_Catecholamine_Synthesis.yaml#Sepiapterin reductase deficiency |
| Candidate DisMech targets | None valid; catecholamine synthesis candidate is false |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as LBR-related sterol C14 reductase deficiency, with alternate labels Greenberg skeletal dysplasia, hydrops-ectopic calcification-moth-eaten skeletal dysplasia, chondrodystrophy hydropic and prenatally lethal, and HEM dysplasia. Treatability is marked unknown.
The biochemical rows report increased cholesta-8,14-dien-3beta-ol in plasma and fibroblasts in the neonatal period. Characteristic clinical rows include chondro-osseous mineralization, chondrodysplasia punctata, disorganized chondro-osseous proliferation, fetal hydrops, intrauterine death, platyspondyly, postaxial polydactyly, mild rhizomelic shortness of the upper limbs, and stillbirth. Additional rows include cystic hygroma, hypolobated or underdeveloped lungs, severe midface hypoplasia, laryngeal calcification, omphalocele, and tracheal calcification. No treatment rows are listed.
DisMech phenotype coverage
No valid local LBR/Greenberg skeletal dysplasia target was found. The generated best candidate to sepiapterin reductase deficiency is a lexical/pathway false positive and does not overlap the LBR sterol C14 reductase skeletal dysplasia entity.
Concordance and completeness
Judgement: true local disease gap; generated catecholamine-synthesis candidate is false.
IEMbase describes a severe prenatal sterol-biosynthesis skeletal dysplasia with cholesta-8,14-dien-3beta-ol accumulation, fetal hydrops, lethal prenatal outcome, chondrodysplasia punctata, abnormal chondro-osseous mineralization, platyspondyly, airway calcification, lung hypoplasia, omphalocele, and limb shortening. No current local entry captures this disease.
Curation actions
- Do not map this record to sepiapterin reductase deficiency.
- Add a future LBR/Greenberg skeletal dysplasia entry if lethal sterol-biosynthesis skeletal dysplasias are in scope.
- Seed that entry with cholesta-8,14-dien-3beta-ol, fetal hydrops, stillbirth, chondrodysplasia punctata, chondro-osseous mineralization, platyspondyly, airway calcification, lung hypoplasia, omphalocele, and upper-limb rhizomelia.