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Carney-Stratakis syndrome
Summary
- Definition
- A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0080533
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O14521 | Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial | |
| P21912 | Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002239 | Gastrointestinal hemorrhage |
| HP:0002015 | Dysphagia |
| HP:0100723 | Gastrointestinal stroma tumor |
| HP:0000360 | Tinnitus |
| HP:0002027 | Abdominal pain |
| HP:0006824 | Cranial nerve paralysis |
| HP:0002668 | Paraganglioma |
| HP:0001824 | Weight loss |
| HP:0005214 | Intestinal obstruction |
| HP:0000365 | Hearing impairment |
