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MIRAGE
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
Summary
- Synonym
-
- JP-HHT
- Definition
- A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the SMAD4 gene on chromosome 18q21.2.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111543
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13485 | Mothers against decapentaplegic homolog 4 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001892 | Abnormal bleeding |
| HP:0001031 | Subcutaneous lipoma |
| HP:0002239 | Gastrointestinal hemorrhage |
| HP:0000331 | Short chin |
| HP:0002007 | Frontal bossing |
| HP:0002576 | Intussusception |
| HP:0001290 | Generalized hypotonia |
| HP:0000256 | Macrocephaly |
| HP:0001999 | Abnormal facial shape |
| HP:0002249 | Melena |
