Bannayan-riley-ruvalcaba syndrome

Preferred Label : Bannayan-riley-ruvalcaba syndrome;

Obsolete resource : true;

Moved to : 158350;

Symbol : BRRS;

CISMeF acronym : BRRS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bannayan-zonana syndrome; RMSS; Riley-smith syndrome; Macrocephaly, pseudopapilledema, and multiple hemangiomata; Ruvalcaba-myhre-smith syndrome; Macrocephaly, multiple lipomas, and hemangiomata; BZS;

Description : Blumenthal and Dennis (2008) provided a detailed review of PTEN-related tumor syndromes.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the phosphatase and tensin homolog gene (pten,601728.0004);

Neoplasia : Meningioma; Thyroid follicular cell tumor;

Laboratory abnormalities : Hypoglycemia;

Prefixed ID : 153480;

Details

Origin ID

153480;

UMLS CUI

C0265326;

Automatic exact mappings (from CISMeF team)
- PTEN wt Allele [NCIt concept]
- Root Mean Square [NCIt concept]
- hamartoma syndrome, multiple [MeSH Descriptor]
Currated CISMeF NLP mapping
- Bannayan syndrome (disorder) [SNOMED CT concept]
- Bannayan-Riley-Ruvalcaba Syndrome [MeSH concept]
- Bannayan-Riley-Ruvalcaba Syndrome [NCIt concept]
- Bannayan-Riley-Ruvalcaba syndrome [PASCAL descriptor]
- Bannayan-Riley-Ruvalcaba syndrome [DO Concept]
- Bannayan-Riley-Ruvalcaba syndrome [ICD-11 More detail]
- Bannayan-Riley-Ruvalcaba syndrome [MedDRA Preferred Term]
- Bannayan-Riley-Ruvalcaba syndrome [ORDO Disease]
- Riley-Smith syndrome (disorder) [SNOMED CT concept]
- Ruvalcaba Myhre Smith syndrome [Disease (Nov.)]
- Ruvalcaba-Myhre syndrome (disorder) [SNOMED CT concept]
- riley-smith syndrome [SNOMED Notion]
- ruvalcaba-myhre syndrome [SNOMED Notion]
False automatic mappings
- Belize [NCIt concept]
HPO term(s)
- Abnormally prominent line of Schwalbe [HPO term]
- Acanthosis nigricans [HPO term]
- Amblyopia [HPO term]
- Angiokeratoma [HPO term]
- Autosomal dominant inheritance [HPO term]
- Birth length greater than 97th percentile [HPO term]
- Cafe-au-lait spot [HPO term]
- Delayed gross motor development [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Hamartomatous polyposis [HPO term]
- Hashimoto thyroiditis [HPO term]
- Hemangioma [HPO term]
- Hematochezia [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intussusception [HPO term]
- Joint hypermobility [HPO term]
- Juvenile onset [HPO term]
- Lipoma [HPO term]
- Long penis [HPO term]
- Macrocephaly [HPO term]
- Macrodactyly [HPO term]
- Meningioma [HPO term]
- Multiple lipomas [HPO term]
- Myopathy [HPO term]
- Pectus excavatum [HPO term]
- Postnatal growth deceleration [HPO term]
- Postnatal growth retardation [HPO term]
- Pseudopapilledema [HPO term]
- Rectal bleeding [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Speech delay [HPO term]
- Strabismus [HPO term]
- Supernumerary nipple [HPO term]
- Thick corpus callosum [HPO term]
- macules [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bannayan syndrome (disorder) [SNOMED CT concept]
- Bannayan-Riley-Ruvalcaba Syndrome [NCIt concept]
- Bannayan-Riley-Ruvalcaba Syndrome [MeSH concept]
- Bannayan-Riley-Ruvalcaba syndrome [ORDO Disease]
- Bannayan-Riley-Ruvalcaba syndrome [DO Concept]
- Bannayan-Riley-Ruvalcaba syndrome [PASCAL descriptor]
- Bannayan-Riley-Ruvalcaba syndrome [MedDRA Preferred Term]
- Riley-Smith syndrome (disorder) [SNOMED CT concept]
- Ruvalcaba Myhre Smith syndrome [Disease (Nov.)]
- Ruvalcaba-Myhre syndrome (disorder) [SNOMED CT concept]
- riley-smith syndrome [SNOMED Notion]
- ruvalcaba-myhre syndrome [SNOMED Notion]

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