Bannayan-Riley-Ruvalcaba Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Gastrointestinal diseases, Skin diseases, Fetal diseases
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
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Aliases & Descriptions for Bannayan-Riley-Ruvalcaba Syndrome:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Cardiovascular diseases, Gastrointestinal diseases, Skin diseases
Rare neurological diseases
Rare circulatory system diseases
Rare gastroenterological diseases
Rare skin diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:46 Bannayan-riley-ruvalcaba syndrome (brrs) is one of the pten hamartoma tumor syndromes (phts), a spectrum of disorders caused by mutations in a gene called pten. brrs is a disorder present from birth that is characterized by macrocephaly (larger than normal sized head), intestinal polyposis (multiple benign polyps in the intestines), lipomas (tumors below the skin made up of fatty tissue), and pigmented skin lesion (macule) in the area of the penis called the glans penis. the symptoms of brrs vary from person to person. treatment is based on the symptoms present; however, because of the increased risk of developing cancer in people with the phts, increased cancer surveillance is recommended. last updated: 3/18/2013
MalaCards based summary: Bannayan-Riley-Ruvalcaba Syndrome, also known as bannayan-zonana syndrome, is related to ruvalcaba syndrome and cowden disease, and has symptoms including abnormality of the penis, macrocephaly and multiple lipomas. An important gene associated with Bannayan-Riley-Ruvalcaba Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways are Androgen receptor signaling pathway and Senescence and Autophagy. Affiliated tissues include skin, thyroid and breast, and related mouse phenotypes are muscle and embryo.
Genetics Home Reference:24 Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males. The signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome are present from birth or become apparent in early childhood.
OMIM:50 Blumenthal and Dennis (2008) provided a detailed review of PTEN-related tumor syndromes. (153480) more...
UniProtKB/Swiss-Prot:68 Bannayan-Riley-Ruvalcaba syndrome: A rare hamartomatous disorder characterized by macrocephaly and multiple hemangiomas as well as subcutaneous and visceral lipomas. It belongs to the family of hamartomatous polyposis syndromes that includes Peutz Jeghers syndrome, juvenile polyposis, and Cowden syndrome.
Symptoms by clinical synopsis from OMIM:153480
Clinical features from OMIM:153480
Symptoms:52 (show all 55)
HPO human phenotypes related to Bannayan-Riley-Ruvalcaba Syndrome:(show all 92)
UMLS symptoms related to Bannayan-Riley-Ruvalcaba Syndrome:seizures
MalaCards organs/tissues related to Bannayan-Riley-Ruvalcaba Syndrome:34
Skin, Thyroid, Breast, Adrenal cortex, Skeletal muscle, Bone, Cortex
MGI Mouse Phenotypes related to Bannayan-Riley-Ruvalcaba Syndrome:39
Articles related to Bannayan-Riley-Ruvalcaba Syndrome:(show all 49)
UniProtKB/Swiss-Prot genetic disease variations for Bannayan-Riley-Ruvalcaba Syndrome:68
Clinvar genetic disease variations for Bannayan-Riley-Ruvalcaba Syndrome:5 (show all 29)
Copy number variations for Bannayan-Riley-Ruvalcaba Syndrome from CNVD:6
Search GEO for disease gene expression data for Bannayan-Riley-Ruvalcaba Syndrome.
Pathways related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards Suite gene sharing:(show all 14)
Molecular functions related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet