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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:0001876 | Pancytopenia |
| HP:0000463 | Anteverted nares |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0001743 | Abnormality of the spleen |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000160 | Narrow mouth |
| HP:0000194 | Open mouth |
| HP:0000232 | Everted lower lip vermilion |
| HP:0000252 | Microcephaly |
| HP:0000278 | Retrognathia |
