BZS
MCID: BNN001
MIFTS: 62

Bannayan-Riley-Ruvalcaba Syndrome (BZS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Gastrointestinal diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Bannayan-Riley-Ruvalcaba Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 juvenile polyposis syndrome and proteus syndrome, and has symptoms including myopathy, muscle weakness/flaccidity and muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy. An important gene associated with Bannayan-Riley-Ruvalcaba Syndrome is PTEN (phosphatase and tensin homolog), and among its related pathways is Inositol phosphate metabolism. The compounds phosphatidylinositol 3-phosphate and cetuximab have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and breast.

Genetics Home Reference:22 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:48 153480

Aliases & Classifications for Bannayan-Riley-Ruvalcaba Syndrome

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
bannayan-riley-ruvalcaba syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

bannayan-riley-ruvalcaba syndrome 9 10 44 21 23 22 48 11 50 63
bannayan-zonana syndrome 9 44 22 46
riley-smith syndrome 9 44 22
brrs 44 22 50
ruvalcaba-myhre-smith syndrome 9 22
myhre-riley-smith syndrome 22 50
bzs 44 22
macrocephaly pseudopapilledema and multiple hemangiomas 44
macrocephaly multiple lipomas and hemangiomata 44
bannayan-ruvalcaba-riley syndrome 22
ruvalcaba -myhre-smith syndrome 44
ruvalcaba-myhre syndrome 22
rmss 44


External Ids:

Disease Ontology9 DOID:0050657
OMIM48 153480
ICD10 via Orphanet27 Q87.8
SNOMED-CT via Orphanet60 21984008, 234138005, 46011003
UMLS via Orphanet64 C0265326

Related Diseases for Bannayan-Riley-Ruvalcaba Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Bannayan-Riley-Ruvalcaba Syndrome:



Diseases related to bannayan-riley-ruvalcaba syndrome

Symptoms for Bannayan-Riley-Ruvalcaba Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

153480

Clinical features from OMIM:

153480

Symptoms:

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

Drugs & Therapeutics for Bannayan-Riley-Ruvalcaba Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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

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21GeneTests, 23GTR
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Genetic tests related to Bannayan-Riley-Ruvalcaba Syndrome:

id Genetic test Affiliating Genes
1 Bannayan-Riley-Ruvalcaba Syndrome21 23 PTEN

Anatomical Context for Bannayan-Riley-Ruvalcaba Syndrome

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34MalaCards
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MalaCards organs/tissues related to Bannayan-Riley-Ruvalcaba Syndrome:

34
Skin, Thyroid, Breast, Colon, Cervix, Uterus, Tongue, Bone

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

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Publications for Bannayan-Riley-Ruvalcaba Syndrome

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53PubMed
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Articles related to Bannayan-Riley-Ruvalcaba Syndrome:

(show all 43)
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
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. (19321504)
2009
12
Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. (18080326)
2008
13
Testicular hamartomas in a patient with Bannayan-Riley-Ruvalcaba syndrome. (18645085)
2008
14
Anesthetic management of a child with Bannayan-Riley-Ruvalcaba syndrome. (18499642)
2008
15
Airway obstruction caused by PTEN hamartoma (Bannayan-Riley-Ruvalcaba) syndrome. (18025323)
2007
16
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
17
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. (17033968)
2006
18
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. (16952599)
2006
19
Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. (17032868)
2006
20
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. (16894538)
2006
21
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (16773562)
2006
22
Bannayan-riley-ruvalcaba syndrome from the point of view of the pediatric surgeon. (16909363)
2006
23
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. (16198785)
2005
24
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. (14574156)
2003
25
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
26
Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. (12372056)
2002
27
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. (11332402)
2001
28
Bannayan-Riley-Ruvalcaba syndrome: report of a family. (12117207)
2001
29
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. (11536076)
2001
30
Bannayan-Riley-Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps. (10679034)
2000
31
An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. (10640930)
2000
32
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
33
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
34
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
35
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. (10400993)
1999
36
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. (9661881)
1998
37
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (9856571)
1998
38
Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. (9352843)
1997
39
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. (9286463)
1997
40
Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. (8859033)
1996
41
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome. (7977472)
1994
42
Bannayan-Riley-Ruvalcaba syndrome. (1336932)
1992
43
Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity. (2309773)
1990

Variations for Bannayan-Riley-Ruvalcaba Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Bannayan-Riley-Ruvalcaba Syndrome:

65
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Bannayan-Riley-Ruvalcaba Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1PTENNM_000314.4(PTEN): c.697C> T (p.Arg233Ter)single nucleotide variantPathogenicrs121909219GRCh37Chr 10, 89717672: 89717672
2PTENNM_000314.4(PTEN): c.510T> A (p.Ser170Arg)single nucleotide variantPathogenicrs121909221GRCh37Chr 10, 89711892: 89711892
3PTENNM_000314.4(PTEN): c.388C> T (p.Arg130Ter)single nucleotide variantPathogenicrs121909224GRCh37Chr 10, 89692904: 89692904
4PTENNM_000314.4(PTEN): c.586delC (p.His196Thrfs)deletionPathogenicGRCh37Chr 10, 89711968: 89711968
5PTENNM_000314.4(PTEN): c.534_535delTAinsAT (p.Tyr178Ter)indelPathogenicrs397515374GRCh37Chr 10, 89711916: 89711917
6PTENNM_000314.4(PTEN): c.640C> T (p.Gln214Ter)single nucleotide variantPathogenicrs121909227GRCh37Chr 10, 89717615: 89717615
7PTENNM_000314.4(PTEN): c.766G> T (p.Glu256Ter)single nucleotide variantPathogenicrs121909228GRCh37Chr 10, 89717741: 89717741
8PTENNM_000314.4(PTEN): c.1003C> T (p.Arg335Ter)single nucleotide variantPathogenicrs121909231GRCh37Chr 10, 89720852: 89720852
9PTENPTEN, DELdeletionPathogenic

Expression for genes affiliated with Bannayan-Riley-Ruvalcaba Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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51PathCards, 56Reactome, 39NCBI BioSystems Database
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Pathways related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis39
inositol pyrophosphates biosynthesis39
D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis39
9.9MINPP1, PTEN

Compounds for genes affiliated with Bannayan-Riley-Ruvalcaba Syndrome

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46Novoseek, 52PharmGKB, 12DrugBank, 62Tocris Bioscience, 25HMDB, 30IUPHAR, 3BitterDB
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Compounds related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1phosphatidylinositol 3-phosphate4610.0CDKN3, PTEN
2cetuximab46 52 1212.0PTEN, CDKN3
3bicalutamide46 62 1212.0CDKN3, PTEN
4gsno4610.0CDKN3, PTEN
5erlotinib46 52 1211.9CDKN3, PTEN
6cl 100469.9DUSP13, CDKN3
7calyculin a46 62 1211.8CDKN3, PTEN
8trastuzumab46 52 1211.7CDKN3, PTEN
9erbstatin469.7CDKN3, PTPN3
10p-nitrophenyl phosphate469.7CDKN3, PTPN3
11sodium fluoride469.7CDKN3, PTPN3
12phosphoserine46 2510.7CDKN3, DUSP13
13gefitinib46 52 1211.7CDKN3, PTEN
14sodium orthovanadate46 6210.6PTPN3, CDKN3
15phenylarsine oxide469.6PTPN3, CDKN3
16fluoride469.6CDKN3, PTPN3
17okadaic acid46 6210.4CDKN3, PTEN, PTPN3
18phosphothreonine469.3CDKN3, DUSP13, PTPN3
19wortmannin469.3PTPN3, PTEN, CDKN3
20genistein46 30 62 3 25 1214.2PTPN3, PTEN, CDKN3
21vanadate469.2CDKN3, PTPN3
22inositol469.1PTPN3, PTEN, MINPP1, CDKN3
23phosphoinositide469.1HADHA, PTPN3, PTEN, CDKN3
24alanine469.0CDKN3, PTEN, PTPN3, HADHA
25phosphotyrosine469.0PTPN3, PTEN, DUSP13, CDKN3
26h2o2469.0PTPN3, PTEN, DUSP13, CDKN3
27phosphatidylinositol469.0PTPN3, PTEN, DUSP13, CDKN3
28atp46 3010.0CDKN3, PTEN, PTPN3, HADHA
29cysteine468.9PTPN3, PTEN, DUSP13, CDKN3
30lipid468.8HADHA, PTPN3, PTEN, DUSP13
31aspartate468.7CDKN3, PTEN, PTPN3
32Phosphate258.7PTPN3, PTEN, DUSP13, MINPP1, CDKN3
33calcium46 52 25 1211.4HADHA, PTPN3, PTEN, DUSP13, CDKN3
34Water258.4CDKN3, MINPP1, DUSP13, PTEN, PTPN3, HADHA
35threonine468.3HADHA, PTPN3, PTEN, DUSP13, BMPR1A, CDKN3
36serine468.3HADHA, PTPN3, PTEN, DUSP13, BMPR1A, CDKN3

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

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17Gene Ontology
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Cellular components related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic side of plasma membraneGO:0098989.3PTEN, PTPN3
2cytoplasmGO:0057377.3CDKN3, STK11IP, DUSP13, PTEN, PTPN3, TNS1

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

idNameGO IDScoreTop Affiliating Genes
1regulation of cyclin-dependent protein serine/threonine kinase activityGO:0000799.7PTEN, CDKN3
2inositol phosphate metabolic processGO:0436479.6MINPP1, PTEN
3protein dephosphorylationGO:0064709.0DUSP13, PTEN, PTPN3
4peptidyl-tyrosine dephosphorylationGO:0353359.0CDKN3, PTPN3, PTEN

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

idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine phosphatase activityGO:0047229.7CDKN3, PTEN
2protein tyrosine/serine/threonine phosphatase activityGO:0081388.9CDKN3, DUSP13, PTEN
3protein tyrosine phosphatase activityGO:0047258.5CDKN3, DUSP13, PTEN, PTPN3

Products for genes affiliated with Bannayan-Riley-Ruvalcaba Syndrome

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Sources for Bannayan-Riley-Ruvalcaba Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet