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Gaucher's disease perinatal lethal
Summary
- Synonym
-
- Fetal Gaucher Disease
- Gaucher Disease, Collodion Type
- Definition
- A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
- Super Class
- Gaucher's disease
External Links
- Disease Ontology
- DOID:0110960
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04062 | Lysosomal acid glucosylceramidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002098 | Respiratory distress |
| HP:0002104 | Apnea |
| HP:0002119 | Ventriculomegaly |
| HP:0002179 | Opisthotonus |
| HP:0002304 | Akinesia |
| HP:0002344 | Progressive neurologic deterioration |
| HP:0002375 | Hypokinesia |
| HP:0003196 | Short nose |
| HP:0004325 | Decreased body weight |
| HP:0005257 | Thoracic hypoplasia |
