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severe congenital neutropenia 8
Summary
- Synonym
-
- SCN8
- SDSL
- Shwachman-Diamond syndrome-like
- autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities
- Definition
- An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2.
- Super Class
- autosomal dominant severe congenital neutropenia
External Links
- Disease Ontology
- DOID:0112135
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P61011 | Signal recognition particle subunit SRP54 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001915 | Aplastic anemia |
| HP:0001945 | Fever |
| HP:0002014 | Diarrhea |
| HP:0002027 | Abdominal pain |
| HP:0002090 | Pneumonia |
| HP:0002718 | Recurrent bacterial infections |
| HP:0002863 | Myelodysplasia |
| HP:0003453 | Antineutrophil antibody positivity |
| HP:0004429 | Recurrent viral infections |
| HP:0004798 | Recurrent infection of the gastrointestinal tract |
