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hypertension and brachydactyly syndrome
Summary
- Synonym
-
- Bilginturan brachydactyly
- Bilginturan syndrome
- HTNB
- brachydactyly with hypertension
- type E brachydactyly with short stature and hypertension
- Definition
- A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111247
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q14432 | cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001156 | Brachydactyly |
| HP:0009803 | Short phalanx of finger |
| HP:0000822 | Hypertension |
| HP:0010049 | Short metacarpal |
| HP:0004322 | Short stature |
| HP:0005863 | Type E brachydactyly |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0010579 | Cone-shaped epiphysis |
