BZS
MCID: BNN001
MIFTS: 57

Bannayan-Riley-Ruvalcaba Syndrome (BZS) malady

Neuronal, Gastrointestinal, Skin, Fetal, Cancer categories

Summaries for Bannayan-Riley-Ruvalcaba Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Bannayan-Riley-Ruvalcaba Syndrome, also known as bannayan-zonana syndrome, is related to cowden disease and juvenile polyposis syndrome, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, hamartoma/tumefaction of the tongue/gingivae/oral mucosa and irregular/in bands/reticular skin hyperpigmentation. An important gene associated with Bannayan-Riley-Ruvalcaba Syndrome is PTEN (phosphatase and tensin homolog), and among its related pathways are Integrated Pancreatic Cancer Pathway and TGF-beta Receptor Signaling Pathway. The compounds paraffin and phosphatidylinositol 3-phosphate have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, thyroid and breast, and related mouse phenotypes are muscle and renal/urinary system.

Genetics Home Reference:21 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.

Description from OMIM:47 153480

Aliases & Classifications for Bannayan-Riley-Ruvalcaba Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 45Novoseek, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Neuronal, Gastrointestinal, Skin


Characteristics (Orphanet epidemiological data):

49
bannayan-riley-ruvalcaba syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

bannayan-riley-ruvalcaba syndrome 8 9 43 20 22 21 47 10 49 61
bannayan-zonana syndrome 8 43 21 45
brrs 43 21 49
ruvalcaba-myhre-smith syndrome 8 21
myhre-riley-smith syndrome 21 49
riley-smith syndrome 8 21
bzs 43 21
macrocephaly pseudopapilledema and multiple hemangiomas 43
macrocephaly multiple lipomas and hemangiomata 43
bannayan-ruvalcaba-riley syndrome 21
syndrome de myhre-rikey-smith 49
ruvalcaba-myhre syndrome 21


External Ids:

Disease Ontology8 DOID:0050657
OMIM47 153480
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet58 21984008, 234138005, 46011003
UMLS via Orphanet62 C0265326

Related Diseases for Bannayan-Riley-Ruvalcaba Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Bannayan-Riley-Ruvalcaba Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1cowden disease30.9TNS1, BMPR1A, STK11, CDKN3, PTEN, SMAD4
2juvenile polyposis syndrome30.7BMPR1A, SMAD4
3carney complex30.5LYPD1
4proteus syndrome30.4PTEN, CDKN3
5peutz-jeghers syndrome30.4PTEN, CDKN3, STK11IP, STK11, BMPR1A
6ruvalcaba syndrome11.3
7n syndrome10.8
8arteriovenous malformation10.5
9familial breast cancer10.5
10lchad deficiency10.5
11proteus syndrome, somatic10.5
12cataract, congenital10.5
13myhre syndrome10.4
14megalencephaly10.4
15peutz–jeghers syndrome10.3
16cowden syndrome 110.3
17hypoglycemic coma10.0
18alcohol abuse10.0
19exocrine pancreatic insufficiency10.0
20macrocephaly/autism syndrome10.0PTEN
21pituitary adenoma10.0PTPN3
22gliosarcoma10.0PTEN
23juvenile myelomonocytic leukemia10.0CDKN3
24lung cancer10.0STK11, PTEN
25pancreatitis10.0SMAD4
26cholangiocarcinoma10.0SMAD4
27leiomyoma10.0SMAD4
28cerebral cavernous malformation10.0PTEN, CDKN3
29lafora disease10.0CDKN3, DUSP13
30melanoma10.0PTPN3, PTEN, STK11
31familial adenomatous polyposis10.0SMAD4, STK11
32hereditary hemorrhagic telangiectasia10.0SMAD4, BMPR1A
33tuberous sclerosis10.0PTEN, CDKN3, STK11
34endometrial carcinoma10.0PTEN, TEP1, CDKN3
35papilloma10.0CDKN3, STK11
36hypoglycemia10.0HADHA, STK11, CDKN3
37adenoma10.0SMAD4, PTPN3, STK11
38adenocarcinoma10.0STK11, TEP1, PTEN, SMAD4
39prostate cancer10.0BMPR1A, DUSP13, CDKN3, PTEN, SMAD4
40stomach cancer10.0STK11, TEP1, PTEN, PTPN3, SMAD4
41pancreatic cancer10.0BMPR1A, STK11, TEP1, PTPN3, SMAD4
42colon cancer10.0STK11, CDKN3, PTEN, PTPN3, SMAD4
43malignant glioma10.0CDKN3, TEP1, PTEN, SMAD4
44colorectal cancer10.0SMAD4, PTPN3, PTEN, STK11
45breast cancer9.9BMPR1A, STK11, CDKN3, TEP1, PTEN, PTPN3

Graphical network of the top 20 diseases related to Bannayan-Riley-Ruvalcaba Syndrome:



Diseases related to bannayan-riley-ruvalcaba syndrome

Clinical Features for Bannayan-Riley-Ruvalcaba Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

153480

Clinical synopsis from OMIM:

153480

Symptoms:

49 (show all 55)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • hamartoma/tumefaction of the tongue/gingivae/oral mucosa
  • irregular/in bands/reticular skin hyperpigmentation
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • xanthomas/lipomas
  • polyposis of the bowel/colon/intestine
  • visceral angiomatosis (excluding skin)
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • breast neoplasm/tumor/carcinoma/cancer
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • pectus excavatum
  • scoliosis
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • mucosal/cutaneous hemorrhage
  • dolichocephaly/scaphocephaly
  • frontal bossing/prominent forehead
  • micrognathia/retrognathia/micrognathism/retrognathism
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • broad nose/nasal bridge
  • short/small nose
  • anteverted nares/nostrils
  • long philtrum
  • high vaulted/narrow palate
  • long/large ear
  • absent/hypotonic/flaccid abdominal wall muscles
  • broad/bifid thumb
  • cutis marmorata/marbled skin/livedo
  • cafe-au-lait spot
  • telangiectasiae of the skin
  • aortic dilatation/dilation
  • angor pectoris/myocardial infarction
  • lymphedema
  • thyroiditis
  • hypoglycemia
  • motor deficit/trouble
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • myopathy
  • muscle weakness/flaccidity
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • delayed bone age
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • intracranial/cerebral/meningeal hemorrhage
  • neoplasms/tumors
  • uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer
  • thyroid neoplasm/tumor/carcinoma/cancer
  • cortical adrenal neoplasm/tumor/carcinoma/cancer
  • meningioma
  • lymphoma
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • tall stature/gigantism/growth acceleration
  • early death/lethality

Drugs & Therapeutics for Bannayan-Riley-Ruvalcaba Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Bannayan-Riley-Ruvalcaba Syndrome

Drug clinical trials:

Search ClinicalTrials for Bannayan-Riley-Ruvalcaba Syndrome

Search NIH Clinical Center for Bannayan-Riley-Ruvalcaba Syndrome

Search CenterWatch for Bannayan-Riley-Ruvalcaba Syndrome

Genetic Tests for Bannayan-Riley-Ruvalcaba Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Bannayan-Riley-Ruvalcaba Syndrome:

id Genetic test Affiliating Genes
1 Bannayan-riley-ruvalcaba Syndrome20 22 PTEN

Anatomical Context for Bannayan-Riley-Ruvalcaba Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Bannayan-Riley-Ruvalcaba Syndrome:

33
Spinal cord, Thyroid, Breast, Skin

Animal Models for Bannayan-Riley-Ruvalcaba Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Bannayan-Riley-Ruvalcaba Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.9SMAD4, PTEN, STK11, BMPR1A, HADHA
2MP:00053678.6TNS1, HADHA, STK11, PTEN, SMAD4
3MP:00053858.1TNS1, HADHA, BMPR1A, STK11, PTEN, SMAD4
4MP:00028738.0SMAD4, PTPN3, PTEN, TEP1, MINPP1, STK11

Publications for Bannayan-Riley-Ruvalcaba Syndrome

Sources:
51PubMed
See all sources

Articles related to Bannayan-Riley-Ruvalcaba Syndrome:

(show all 44)
idTitleAuthorsYear
1
Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome. (23662932)
2013
2
Bannayan-Riley-Ruvalcaba Syndrome (BRRS): An Uncommon Case of Haematochezia in a 3-year-old-boy. (23783019)
2013
3
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients. (23907246)
2013
4
Thyroid involvement in two patients with bannayan-riley-ruvalcaba syndrome. (24379037)
2013
5
Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. (22911484)
2012
6
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. (22327138)
2012
7
Muscle hemangiomatosis presenting as a severe feature in a patient with the pten mutation: expanding the phenotype of vascular malformations in bannayan-riley-ruvalcaba syndrome. (24052722)
2012
8
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. (21659347)
2011
9
Recurrent and extensive vascular malformations in a patient with Bannayan--Riley--Ruvalcaba syndrome. (21856113)
2011
10
Bannayan Riley Ruvalcaba syndrome. (20697678)
2010
11
Treatment of intractable abdominal pain patient with Bannayan-Riley-Ruvalcaba syndrome using spinal cord stimulation. (19813502)
2009
12
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. (19321504)
2009
13
Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. (18080326)
2008
14
Testicular hamartomas in a patient with Bannayan-Riley-Ruvalcaba syndrome. (18645085)
2008
15
Anesthetic management of a child with Bannayan-Riley-Ruvalcaba syndrome. (18499642)
2008
16
Airway obstruction caused by PTEN hamartoma (Bannayan-Riley-Ruvalcaba) syndrome. (18025323)
2007
17
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. (17526800)
2007
18
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. (17033968)
2006
19
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. (16952599)
2006
20
Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. (17032868)
2006
21
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. (16894538)
2006
22
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (16773562)
2006
23
Bannayan-riley-ruvalcaba syndrome from the point of view of the pediatric surgeon. (16909363)
2006
24
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. (16198785)
2005
25
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. (14574156)
2003
26
Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. (12844284)
2003
27
Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. (12372056)
2002
28
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. (11332402)
2001
29
Bannayan-Riley-Ruvalcaba syndrome: report of a family. (12117207)
2001
30
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. (11536076)
2001
31
Bannayan-Riley-Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps. (10679034)
2000
32
An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. (10640930)
2000
33
Absence of germline mutations in MINPP1, a phosphatase encoding gene centromeric of PTEN, in patients with Cowden and Bannayan-Riley-Ruvalcaba syndrome without germline PTEN mutations. (11182934)
2000
34
Balanced translocation of 10q and13q, including the PTEN gene, in a boy with a human chorionic gonadotropin-secreting tumor and the Bannayan-Riley-Ruvalcaba syndrome. (10599735)
1999
35
Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS). (10076877)
1999
36
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. (10400993)
1999
37
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. (9661881)
1998
38
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (9856571)
1998
39
Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. (9352843)
1997
40
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. (9286463)
1997
41
Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. (8859033)
1996
42
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome. (7977472)
1994
43
Bannayan-Riley-Ruvalcaba syndrome. (1336932)
1992
44
Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity. (2309773)
1990

Genetic Variations for Bannayan-Riley-Ruvalcaba Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Bannayan-Riley-Ruvalcaba Syndrome:

63
id Symbol AA change Variation SNP ID
1PTENp.Tyr68HisVAR_007462
2PTENp.Ser170ArgVAR_007470
3PTENp.Ala34AspVAR_008734
4PTENp.Cys105TyrVAR_008735
5PTENp.Ile135ValVAR_008736
6PTENp.Pro246LeuVAR_008740
7PTENp.Cys105PheVAR_026256
8PTENp.Asp107TyrVAR_026257

Expression for genes affiliated with Bannayan-Riley-Ruvalcaba Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Bannayan-Riley-Ruvalcaba Syndrome

Search GEO for disease gene expression data for Bannayan-Riley-Ruvalcaba Syndrome.

Pathways for genes affiliated with Bannayan-Riley-Ruvalcaba Syndrome

Sources:
38NCBI BioSystems Database
See all sources

Pathways related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5SMAD4, PTEN, STK11
29.3SMAD4, STK11IP, STK11
39.3STK11, STK11IP, SMAD4
49.2SMAD4, PTEN, STK11, BMPR1A

Compounds for genes affiliated with Bannayan-Riley-Ruvalcaba Syndrome

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 60Tocris Bioscience, 29IUPHAR
See all sources

Compounds related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1paraffin459.4STK11, TEP1, PTEN, SMAD4
2phosphatidylinositol 3-phosphate459.4PTEN, CDKN3
3cetuximab45 50 1111.4PTEN, CDKN3
4cl 100459.3CDKN3, DUSP13
5erbstatin459.3PTPN3, CDKN3
6p-nitrophenyl phosphate459.2CDKN3, PTPN3
7sodium fluoride459.2CDKN3, PTPN3
8phosphothreonine458.9DUSP13, CDKN3, PTPN3
9inositol458.8PTPN3, PTEN, CDKN3, MINPP1
10phosphoinositide458.7HADHA, CDKN3, PTEN, PTPN3
11glucose458.7HADHA, STK11, PTEN, PTPN3, SMAD4
12okadaic acid45 609.7CDKN3, PTEN, PTPN3
13phosphotyrosine458.6PTPN3, PTEN, CDKN3, DUSP13
14atp45 299.3PTPN3, PTEN, CDKN3, STK11, HADHA
15h2o2458.1PTPN3, PTEN, CDKN3, DUSP13
16alanine458.1HADHA, STK11, CDKN3, PTEN, PTPN3, SMAD4
17threonine457.4SMAD4, HADHA, BMPR1A, STK11, DUSP13, CDKN3
18serine457.4HADHA, BMPR1A, STK11, DUSP13, CDKN3, PTEN

GO Terms for genes affiliated with Bannayan-Riley-Ruvalcaba Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1internal side of plasma membraneGO:0098989.6PTPN3, PTEN
2cytoplasmGO:0057376.6SMAD4, TNS1, HADHA, STK11, STK11IP, DUSP13

Biological processes related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of SMAD protein import into nucleusGO:0603919.9SMAD4, BMPR1A
2developmental growthGO:0485899.8SMAD4, BMPR1A
3positive regulation of transforming growth factor beta receptor signaling pathwayGO:0305119.7SMAD4, STK11
4positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.5SMAD4, BMPR1A
5protein dephosphorylationGO:0064709.3DUSP13, PTEN, PTPN3
6peptidyl-tyrosine dephosphorylationGO:0353358.9PTPN3, PTEN, CDKN3
7negative regulation of cell proliferationGO:0082858.7STK11, CDKN3, PTEN, SMAD4

Molecular functions related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine/serine/threonine phosphatase activityGO:0081389.0PTEN, CDKN3, DUSP13
2protein tyrosine phosphatase activityGO:0047258.1PTPN3, PTEN, CDKN3, DUSP13

Products for genes affiliated with Bannayan-Riley-Ruvalcaba Syndrome

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Sources for Bannayan-Riley-Ruvalcaba Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet