Hypertension and Brachydactyly Syndrome malady
Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Bone diseases, Fetal diseases
Aliases & Descriptions for Hypertension and Brachydactyly Syndrome:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal
hypertension and brachydactyly syndrome:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Cardiovascular diseases, Nephrological diseases, Bone diseases
Rare circulatory system diseases
Rare renal diseases
Rare bone diseases
Developmental anomalies during embryogenesis
UniProtKB/Swiss-Prot:69 Hypertension and brachydactyly syndrome: 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, and altered baroreflex blood pressure regulation. It results in death from stroke before age 50 years when untreated. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals.
MalaCards based summary: Hypertension and Brachydactyly Syndrome, also known as brachydactyly with hypertension, is related to brachydactyly and familial hypertension, and has symptoms including hypertension, brachydactyly syndrome and abnormality of the metacarpal bones. An important gene associated with Hypertension and Brachydactyly Syndrome is PDE3A (Phosphodiesterase 3A). Affiliated tissues include bone.
OMIM:51 The hypertension and brachydactyly syndrome is characterized by brachydactyly type E, severe salt-independent but... (112410) more...
Diseases related to Hypertension and Brachydactyly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Human phenotypes related to Hypertension and Brachydactyly Syndrome:63 53 (show all 8)
MalaCards organs/tissues related to Hypertension and Brachydactyly Syndrome:35
Articles related to Hypertension and Brachydactyly Syndrome:
UniProtKB/Swiss-Prot genetic disease variations for Hypertension and Brachydactyly Syndrome:69
Clinvar genetic disease variations for Hypertension and Brachydactyly Syndrome:5
Search GEO for disease gene expression data for Hypertension and Brachydactyly Syndrome.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet