Bannayan-Riley-Ruvalcaba Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Gastrointestinal diseases, Skin diseases, Fetal diseases, Cancer diseases
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 47Novoseek, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
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Aliases & Descriptions for Bannayan-Riley-Ruvalcaba Syndrome:
Orphanet epidemiological data:51
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal
Global: Genetic diseases, Rare diseases, Fetal diseases, Cancer diseases
Anatomical: Neuronal diseases, Gastrointestinal diseases, Skin diseases
Rare neurological diseases
Rare gastroenterological diseases
Rare skin diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:45 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 intestinal polyposis, visceral angiomatosis and arteriovenous malformation. An important gene associated with Bannayan-Riley-Ruvalcaba Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways are Inositol phosphate metabolism (REACTOME) and Androgen receptor signaling pathway. Affiliated tissues include skin, thyroid and breast, and related mouse phenotypes are embryo and muscle.
Genetics Home Reference:23 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:49 Blumenthal and Dennis (2008) provided a detailed review of PTEN-related tumor syndromes. (153480) more...
UniProtKB/Swiss-Prot:67 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:51 (show all 66)
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:33
Skin, Thyroid, Breast, Heart, Tongue, Cervix, Uterus
Articles related to Bannayan-Riley-Ruvalcaba Syndrome:(show all 48)
UniProtKB/Swiss-Prot genetic disease variations for Bannayan-Riley-Ruvalcaba Syndrome:67
Clinvar genetic disease variations for Bannayan-Riley-Ruvalcaba Syndrome:5 (show all 20)
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:
Molecular functions related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet