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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:0001989 | Fetal akinesia sequence |
| HP:0001371 | Flexion contracture |
| HP:0008064 | Ichthyosis |
| HP:0000656 | Ectropion |
| HP:0003811 | Neonatal death |
| HP:0001744 | Splenomegaly |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0002240 | Hepatomegaly |
| HP:0001558 | Decreased fetal movement |
| HP:0005280 | Depressed nasal bridge |
