BRRS
MCID: BNN001
MIFTS: 54

Bannayan-Riley-Ruvalcaba Syndrome (BRRS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Gastrointestinal diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Bannayan-Riley-Ruvalcaba Syndrome

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Aliases & Descriptions for Bannayan-Riley-Ruvalcaba Syndrome:

Name: Bannayan-Riley-Ruvalcaba Syndrome 52 11 48 24 25 54 70 12 13 68
Bannayan-Zonana Syndrome 11 48 24 25 70 50
Riley-Smith Syndrome 11 48 24 25 70
Ruvalcaba-Myhre-Smith Syndrome 11 24 25 70
Brrs 48 25 54 70
Bannayan-Ruvalcaba-Riley Syndrome 25 70 27
Bzs 48 25 70
Macrocephaly Multiple Lipomas and Hemangiomata 48 70
Pten Hamartoma Tumor Syndrome 70 68
 
Myhre-Riley-Smith Syndrome 25 54
Rmss 48 70
Macrocephaly Pseudopapilledema and Multiple Hemangiomata 70
Macrocephaly Pseudopapilledema and Multiple Hemangiomas 48
Macrocephaly, Multiple Lipomas, and Hemangiomata 24
Ruvalcaba -Myhre-Smith Syndrome 48
Ruvalcaba-Myhre Syndrome 25
Brr Syndrome 24
Phts 70

Characteristics:

Orphanet epidemiological data:

54
bannayan-riley-ruvalcaba syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

64
bannayan-riley-ruvalcaba syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset

Classifications:



External Ids:

OMIM52 153480
Disease Ontology11 DOID:0050657
Orphanet54 ORPHA109
ICD10 via Orphanet31 Q87.8
UMLS via Orphanet69 C0265326
MedGen37 C0265326
MeSH39 D006223

Summaries for Bannayan-Riley-Ruvalcaba Syndrome

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NIH Rare Diseases:48 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 cowden disease and cowden syndrome 1, and has symptoms including seizures, seizures and Array. 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 Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex. Affiliated tissues include skin, thyroid and breast, and related mouse phenotypes are Decreased sensitivity to paclitaxel and Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance.

UniProtKB/Swiss-Prot:70 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.

Genetics Home Reference:25 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:52 Blumenthal and Dennis (2008) provided a detailed review of PTEN-related tumor syndromes. (153480) more...

Related Diseases for Bannayan-Riley-Ruvalcaba Syndrome

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

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1cowden disease11.7
2cowden syndrome 111.4
3proteus syndrome, somatic11.4
4pten hamartoma tumor syndrome11.4
5polyposis, juvenile intestinal11.2
6ruvalcaba syndrome11.1
7vascular malformation10.5
8lipoma10.4
9breast cancer10.2
10lchad deficiency10.2
11arteriovenous fistula10.2
12cataract10.2
13chromosome 10q23 deletion syndrome10.2
14arteriovenous malformation10.2
15lipomatosis10.2
16myopathy10.2
17thyroiditis10.2
18intussusception10.2
19familial breast cancer10.2
20chromosome 16p12.1 deletion syndrome, 520kb10.1BMPR1A, PTEN
21rhizomelic dysplasia, patterson-lowry type10.1BMPR1A, PTEN
22porencephaly, cerebellar hypoplasia, and internal malformations10.0BMPR1A, PTEN
23c5orf42-related joubert syndrome10.0BMPR1A, SMAD4
24pseudoainhum10.0BMPR1A, SMAD4
25hypothalamic adipsic hypernatraemia syndrome10.0BMPR1A, SMAD4
26herpes simplex encephalitic 610.0PTEN, SMAD4
27melanoma, cutaneous malignant, 610.0CDKN3, PTEN
28charcot-marie-tooth disease, axonal, type 2f9.9CDKN3, PTEN
29acromesomelic dysplasia, maroteaux type9.9PTEN, SMAD4
30glomerulosclerosis, focal segmental, 79.9BMPR1A, PTEN, SMAD4
31alcohol abuse9.8
32exocrine pancreatic insufficiency9.8
33hypoglycemic coma9.8
34pancreatitis9.8
35glioblastoma9.8
36childhood teratocarcinoma of the testis9.3BMPR1A, CDKN3, PTEN, SMAD4, TNS1
37macrocephaly/autism syndrome9.2BMPR1A, CDKN3, HADHA, PTEN, SMAD4, TNS1
38pierre robin syndrome and oligodactyly9.2BMPR1A, CDKN3, HADHA, PTEN, SMAD4, TNS1

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



Diseases related to bannayan-riley-ruvalcaba syndrome

Symptoms & Phenotypes for Bannayan-Riley-Ruvalcaba Syndrome

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Symptoms by clinical synopsis from OMIM:

153480

Clinical features from OMIM:

153480

Human phenotypes related to Bannayan-Riley-Ruvalcaba Syndrome:

 54 64 (show all 76)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tall stature64 54 Occasional (29-5%) HP:0000098
2 narrow palate64 54 Occasional (29-5%) HP:0000189
3 macrocephaly64 54 Very frequent (99-80%) HP:0000256
4 dolichocephaly64 54 Occasional (29-5%) HP:0000268
5 long philtrum64 54 Occasional (29-5%) HP:0000343
6 micrognathia64 54 Occasional (29-5%) HP:0000347
7 macrotia64 54 Occasional (29-5%) HP:0000400
8 wide nose64 54 Occasional (29-5%) HP:0000445
9 anteverted nares64 54 Occasional (29-5%) HP:0000463
10 abnormality of the optic nerve64 54 Occasional (29-5%) HP:0000587
11 pectus excavatum64 54 Frequent (79-30%) HP:0000767
12 hashimoto thyroiditis64 54 Occasional (29-5%) HP:0000872
13 cutis marmorata64 54 Occasional (29-5%) HP:0000965
14 lymphedema64 54 Occasional (29-5%) HP:0001004
15 telangiectasia64 54 Occasional (29-5%) HP:0001009
16 intellectual disability64 54 Occasional (29-5%) HP:0001249
17 seizures64 54 Occasional (29-5%) HP:0001250
18 muscular hypotonia64 54 Occasional (29-5%) HP:0001252
19 muscle weakness54 Occasional (29-5%)
20 subcutaneous nodule64 54 Frequent (79-30%) HP:0001482
21 angina pectoris64 54 Occasional (29-5%) HP:0001681
22 aortic dilatation64 54 Occasional (29-5%) HP:0001724
23 subcutaneous hemorrhage64 54 Frequent (79-30%) HP:0001933
24 hypoglycemia64 54 Occasional (29-5%) HP:0001943
25 frontal bossing64 54 Occasional (29-5%) HP:0002007
26 neurological speech impairment64 54 Occasional (29-5%) HP:0002167
27 intracranial hemorrhage64 54 Occasional (29-5%) HP:0002170
28 delayed gross motor development64 54 Occasional (29-5%) HP:0002194
29 abnormality of the large intestine64 54 Very frequent (99-80%) HP:0002250
30 scoliosis64 54 Frequent (79-30%) HP:0002650
31 neoplasm54 Occasional (29-5%)
32 lymphoma64 54 Occasional (29-5%) HP:0002665
33 delayed skeletal maturation64 54 Occasional (29-5%) HP:0002750
34 meningioma64 54 Occasional (29-5%) HP:0002858
35 thyroid carcinoma64 54 Occasional (29-5%) HP:0002890
36 short nose64 54 Occasional (29-5%) HP:0003196
37 myopathy64 54 Occasional (29-5%) HP:0003198
38 skeletal muscle atrophy64 54 Occasional (29-5%) HP:0003202
39 nevus64 54 Very frequent (99-80%) HP:0003764
40 short stature64 54 Very frequent (99-80%) HP:0004322
41 cachexia64 54 Occasional (29-5%) HP:0004326
42 hamartomatous polyposis64 54 Very frequent (99-80%) HP:0004390
43 capillary hemangiomas64 54 Very frequent (99-80%) HP:0005306
44 joint hyperflexibility64 54 Occasional (29-5%) HP:0005692
45 irregular hyperpigmentation64 54 Very frequent (99-80%) HP:0007400
46 multiple cafe-au-lait spots64 54 Occasional (29-5%) HP:0007565
47 abdominal wall muscle weakness64 54 Occasional (29-5%) HP:0009023
48 uterine neoplasm64 54 Occasional (29-5%) HP:0010784
49 broad thumb64 54 Occasional (29-5%) HP:0011304
50 lipoma64 54 Very frequent (99-80%) HP:0012032
51 neoplasm of the breast64 54 Very frequent (99-80%) HP:0100013
52 arteriovenous malformation64 54 Very frequent (99-80%) HP:0100026
53 neoplasm of the adrenal cortex64 54 Occasional (29-5%) HP:0100641
54 visceral angiomatosis64 54 Very frequent (99-80%) HP:0100761
55 intestinal polyposis64 54 Very frequent (99-80%) HP:0200008
56 long penis64 HP:0000040
57 high palate64 HP:0000218
58 strabismus64 HP:0000486
59 downslanted palpebral fissures64 HP:0000494
60 pseudopapilledema64 HP:0000538
61 amblyopia64 HP:0000646
62 delayed speech and language development64 HP:0000750
63 acanthosis nigricans64 HP:0000956
64 cafe-au-lait spot64 HP:0000957
65 multiple lipomas64 HP:0001012
66 angiokeratoma64 HP:0001014
67 hemangioma64 HP:0001028
68 joint hypermobility64 HP:0001382
69 supernumerary nipple64 HP:0002558
70 hematochezia64 HP:0002573
71 intussusception64 HP:0002576
72 birth length greater than 97th percentile64 HP:0003517
73 macrodactyly64 HP:0004099
74 thick corpus callosum64 HP:0007074
75 abnormally prominent line of schwalbe64 HP:0007873
76 postnatal growth retardation64 HP:0008897

UMLS symptoms related to Bannayan-Riley-Ruvalcaba Syndrome:


seizures

GenomeRNAi Phenotypes related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00112-A-010.3PTEN, SMAD4
2GR00210-A9.7BMPR1A, CDKN3, PTEN
3GR00104-A-09.7BMPR1A, CDKN3, PTEN
4GR00110-A-09.3BMPR1A, SMAD4, TNS1

MGI Mouse Phenotypes related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.2BMPR1A, HADHA, PTEN, SMAD4
2MP:00053858.4BMPR1A, HADHA, PTEN, SMAD4, TNS1
3MP:00053678.3HADHA, PTEN, SMAD4, TNS1

Drugs & Therapeutics for Bannayan-Riley-Ruvalcaba Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Bannayan-Riley-Ruvalcaba Syndrome

Genetic Tests for Bannayan-Riley-Ruvalcaba Syndrome

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Genetic tests related to Bannayan-Riley-Ruvalcaba Syndrome:

id Genetic test Affiliating Genes
1 Bannayan-Riley-Ruvalcaba Syndrome27 24 PTEN

Anatomical Context for Bannayan-Riley-Ruvalcaba Syndrome

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

36
Skin, Thyroid, Breast, Adrenal cortex, Skeletal muscle, Cortex, Spinal cord

Publications for Bannayan-Riley-Ruvalcaba Syndrome

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Articles related to Bannayan-Riley-Ruvalcaba Syndrome:

(show top 50)    (show all 51)
idTitleAuthorsYear
1
Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report. (28401059)
2017
2
Say What? Bannayan-Riley-Ruvalcaba Syndrome Presenting with Gastrointestinal Bleeding Due to Hamartoma-Induced Intussusception. (28168574)
2017
3
Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome. (27535890)
2016
4
Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome. (27358095)
2016
5
A case of Bannayan-Riley-Ruvalcaba syndrome. A new clinical finding and brief review. (26228616)
2015
6
Torsion of a giant mesocolic lipoma in a child with Bannayan-Riley-Ruvalcaba syndrome. (25008800)
2014
7
Bannayan-Riley-Ruvalcaba Syndrome (BRRS): An Uncommon Case of Haematochezia in a 3-year-old-boy. (23783019)
2013
8
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report. (24474112)
2013
9
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients. (23907246)
2013
10
Thyroid involvement in two patients with bannayan-riley-ruvalcaba syndrome. (24379037)
2013
11
Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome. (23662932)
2013
12
Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. (22911484)
2012
13
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. (22327138)
2012
14
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
15
Recurrent and extensive vascular malformations in a patient with Bannayan--Riley--Ruvalcaba syndrome. (21856113)
2011
16
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. (21659347)
2011
17
Bannayan Riley Ruvalcaba syndrome. (20697678)
2010
18
Treatment of intractable abdominal pain patient with Bannayan-Riley-Ruvalcaba syndrome using spinal cord stimulation. (19813502)
2009
19
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. (19321504)
2009
20
Testicular hamartomas in a patient with Bannayan-Riley-Ruvalcaba syndrome. (18645085)
2008
21
Anesthetic management of a child with Bannayan-Riley-Ruvalcaba syndrome. (18499642)
2008
22
Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. (18080326)
2008
23
Airway obstruction caused by PTEN hamartoma (Bannayan-Riley-Ruvalcaba) syndrome. (18025323)
2007
24
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
25
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. (16894538)
2006
26
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (16773562)
2006
27
Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. (17032868)
2006
28
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. (17033968)
2006
29
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. (16952599)
2006
30
Bannayan-riley-ruvalcaba syndrome from the point of view of the pediatric surgeon. (16909363)
2006
31
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. (16198785)
2005
32
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. (14574156)
2003
33
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
34
Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. (12372056)
2002
35
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. (11536076)
2001
36
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. (11332402)
2001
37
Bannayan-Riley-Ruvalcaba syndrome: report of a family. (12117207)
2001
38
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
39
An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. (10640930)
2000
40
Bannayan-Riley-Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps. (10679034)
2000
41
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. (10400993)
1999
42
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
43
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
44
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (9856571)
1998
45
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. (9661881)
1998
46
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. (9286463)
1997
47
Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. (9352843)
1997
48
Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. (8859033)
1996
49
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome. (7977472)
1994
50
Bannayan-Riley-Ruvalcaba syndrome. (1336932)
1992

Variations for Bannayan-Riley-Ruvalcaba Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Bannayan-Riley-Ruvalcaba Syndrome:

70
id Symbol AA change Variation ID SNP ID
1PTENp.Tyr68HisVAR_007462rs398123317
2PTENp.Ser170ArgVAR_007470rs121909221
3PTENp.Ala34AspVAR_008734
4PTENp.Cys105TyrVAR_008735rs587782343
5PTENp.Ile135ValVAR_008736rs587782360
6PTENp.Pro246LeuVAR_008740rs587782350
7PTENp.Cys105PheVAR_026256
8PTENp.Asp107TyrVAR_026257

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

5 (show all 45)
id Gene Variation Type Significance SNP ID Assembly Location
1PTENNM_ 000314.6(PTEN): c.338G> T (p.Ser113Ile)SNVPathogenicrs587781254GRCh37Chr 10, 89692854: 89692854
2PTENNM_ 000314.6(PTEN): c.379G> A (p.Gly127Arg)SNVPathogenic/ Likely pathogenicrs587781255GRCh37Chr 10, 89692895: 89692895
3PTENNM_ 000314.6(PTEN): c.48T> A (p.Tyr16Ter)SNVPathogenicrs587782187GRCh37Chr 10, 89624274: 89624274
4PTENNM_ 000314.6(PTEN): c.781C> T (p.Gln261Ter)SNVPathogenicrs730882131GRCh38Chr 10, 87957999: 87957999
5PTENNM_ 000314.6(PTEN): c.406T> C (p.Cys136Arg)SNVPathogenicrs786201044GRCh37Chr 10, 89692922: 89692922
6PTENNM_ 000314.6(PTEN): c.511C> T (p.Gln171Ter)SNVPathogenicrs786204864GRCh37Chr 10, 89711893: 89711893
7PTENNM_ 000314.6(PTEN): c.491delA (p.Lys164Argfs)deletionPathogenicrs786204900GRCh37Chr 10, 89693007: 89693007
8PTENNM_ 000314.6(PTEN): c.49C> T (p.Gln17Ter)SNVPathogenicrs786204910GRCh37Chr 10, 89624275: 89624275
9PTENNM_ 000314.6(PTEN): c.71A> G (p.Asp24Gly)SNVPathogenicrs797044910GRCh37Chr 10, 89624297: 89624297
10PTENNM_ 000314.6(PTEN): c.437T> G (p.Leu146Ter)SNVPathogenicrs786204933GRCh38Chr 10, 87933196: 87933196
11PTENNM_ 000314.6(PTEN): c.860C> G (p.Ser287Ter)SNVLikely pathogenicrs863224909GRCh38Chr 10, 87960952: 87960952
12PTENNM_ 000314.6(PTEN): c.987_ 996dupTAAAGACAAA (p.Ala333Terfs)duplicationPathogenicrs864622387GRCh38Chr 10, 87961079: 87961088
13PTENNM_ 000314.6(PTEN): c.845delG (p.Gly282Aspfs)deletionPathogenicrs864622451GRCh38Chr 10, 87960937: 87960937
14PTENNM_ 000314.6(PTEN): c.132dupC (p.Val45Argfs)duplicationPathogenicrs878853933GRCh38Chr 10, 87894077: 87894077
15PTENNM_ 000314.6(PTEN): c.195C> G (p.Tyr65Ter)SNVPathogenicrs878853936GRCh37Chr 10, 89685300: 89685300
16PTENNM_ 000314.6(PTEN): c.53delA (p.Glu18Glyfs)deletionPathogenicrs878853940GRCh38Chr 10, 87864522: 87864522
17PTENNM_ 000314.6(PTEN): c.545dupT (p.Leu182Phefs)duplicationPathogenicrs878853941GRCh38Chr 10, 87952170: 87952170
18PTENNM_ 000314.6(PTEN): c.757_ 758dupAT (p.Lys254Serfs)duplicationPathogenicrs878853942GRCh38Chr 10, 87957975: 87957976
19PTENNM_ 000314.6(PTEN): c.877G> T (p.Gly293Ter)SNVPathogenicrs878853944GRCh37Chr 10, 89720726: 89720726
20PTENNM_ 000314.6(PTEN): c.80-?_ 492+?deldeletionPathogenic
21PTENNM_ 000314.6(PTEN): c.200dupT (p.Tyr68Ilefs)duplicationPathogenicGRCh38Chr 10, 87925548: 87925548
22PTENNM_ 000314.6(PTEN): c.629delC (p.Thr210Ilefs)deletionPathogenicrs1060500114GRCh38Chr 10, 87952254: 87952254
23PTENNM_ 000314.6(PTEN): c.723dupT (p.Glu242Terfs)duplicationPathogenicGRCh38Chr 10, 87957941: 87957941
24PTENNM_ 000314.6(PTEN): c.346_ 358dupGACAATCATGTTG (p.Ala120Glyfs)duplicationPathogenicGRCh38Chr 10, 87933105: 87933117
25PTENNM_ 000314.6(PTEN): c.176C> G (p.Ser59Ter)SNVPathogenicrs1060500116GRCh38Chr 10, 87925524: 87925524
26PTENNM_ 000314.6(PTEN): c.750_ 751delTG (p.Cys250Trpfs)deletionPathogenicrs1060500119GRCh38Chr 10, 87957968: 87957969
27PTENNM_ 000314.6(PTEN): c.945T> G (p.Tyr315Ter)SNVPathogenicrs876661058GRCh38Chr 10, 87961037: 87961037
28PTENNM_ 000314.6(PTEN): c.675T> G (p.Tyr225Ter)SNVPathogenicrs1057520900GRCh37Chr 10, 89717650: 89717650
29PTENNM_ 000314.6(PTEN): c.445C> T (p.Gln149Ter)SNVPathogenicrs1060500122GRCh38Chr 10, 87933204: 87933204
30PTENNC_ 000010.11: g.(?_ 87894025)_ (87894109_ ?)deldeletionPathogenicGRCh38Chr 10, 87894025: 87894109
31PTENNM_ 000314.6(PTEN): c.955_ 958delACTT (p.Thr319Terfs)deletionPathogenicrs146650273GRCh37Chr 10, 89720804: 89720807
32PTENNM_ 000314.6(PTEN): c.697C> T (p.Arg233Ter)SNVPathogenicrs121909219GRCh37Chr 10, 89717672: 89717672
33PTENNM_ 000314.6(PTEN): c.510T> A (p.Ser170Arg)SNVPathogenicrs121909221GRCh37Chr 10, 89711892: 89711892
34PTENNM_ 000314.6(PTEN): c.347_ 351delACAAT (p.Asp116Alafs)deletionPathogenicrs587776666GRCh37Chr 10, 89692863: 89692867
35PTENNM_ 000314.6(PTEN): c.388C> T (p.Arg130Ter)SNVPathogenic/ Likely pathogenicrs121909224GRCh37Chr 10, 89692904: 89692904
36PTENNM_ 000314.6(PTEN): c.586delC (p.His196Thrfs)deletionPathogenicrs587776670GRCh37Chr 10, 89711968: 89711968
37PTENNM_ 000314.6(PTEN): c.534_ 535delTAinsAT (p.Tyr178Ter)indelPathogenicrs397515374GRCh37Chr 10, 89711916: 89711917
38PTENNM_ 000314.6(PTEN): c.640C> T (p.Gln214Ter)SNVPathogenicrs121909227GRCh37Chr 10, 89717615: 89717615
39PTENNM_ 000314.6(PTEN): c.766G> T (p.Glu256Ter)SNVPathogenicrs121909228GRCh37Chr 10, 89717741: 89717741
40PTENNM_ 000314.6(PTEN): c.389G> A (p.Arg130Gln)SNVPathogenic/ Likely pathogenicrs121909229GRCh37Chr 10, 89692905: 89692905
41PTENNM_ 000314.6(PTEN): c.1003C> T (p.Arg335Ter)SNVPathogenic/ Likely pathogenicrs121909231GRCh37Chr 10, 89720852: 89720852
42PTENNM_ 000314.6(PTEN): c.507delC (p.Ser170Valfs)deletionPathogenicrs587776673GRCh37Chr 10, 89711889: 89711889
43PTENPTEN, DELdeletionPathogenic
44PTENNM_ 000314.6(PTEN): c.395G> T (p.Gly132Val)SNVPathogenic/ Likely pathogenicrs121909241GRCh37Chr 10, 89692911: 89692911
45PTENNM_ 000314.6(PTEN): c.800delA (p.Lys267Argfs)deletionPathogenicrs121913289GRCh37Chr 10, 89717775: 89717775

Copy number variations for Bannayan-Riley-Ruvalcaba Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
147170108967526789701622DeletionPTENBannayan-Riley-Ruvalcaba syndrome

Expression for genes affiliated with Bannayan-Riley-Ruvalcaba Syndrome

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

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Biological processes related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of ERK1 and ERK2 cascadeGO:007037310.2PTEN, SMAD4
2peptidyl-tyrosine dephosphorylationGO:003533510.1CDKN3, PTEN
3regulation of cyclin-dependent protein serine/threonine kinase activityGO:000007910.1CDKN3, PTEN
4anterior/posterior pattern specificationGO:000995210.0BMPR1A, SMAD4
5BMP signaling pathwayGO:003050910.0BMPR1A, SMAD4
6cellular response to BMP stimulusGO:007177310.0BMPR1A, SMAD4
7developmental growthGO:004858910.0BMPR1A, SMAD4
8embryonic digit morphogenesisGO:004273310.0BMPR1A, SMAD4
9endoderm developmentGO:000749210.0BMPR1A, SMAD4
10outflow tract septum morphogenesisGO:000314810.0BMPR1A, SMAD4
11palate developmentGO:00600219.9BMPR1A, SMAD4
12positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.9BMPR1A, SMAD4
13positive regulation of SMAD protein import into nucleusGO:00603919.9BMPR1A, SMAD4
14negative regulation of cell proliferationGO:00082859.7CDKN3, PTEN, SMAD4
15transforming growth factor beta receptor signaling pathwayGO:00071799.3BMPR1A, SMAD4

Molecular functions related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phosphoprotein phosphatase activityGO:000472110.1CDKN3, PTEN
2protein serine/threonine phosphatase activityGO:000472210.1CDKN3, PTEN
3protein tyrosine phosphatase activityGO:000472510.0CDKN3, PTEN
4protein tyrosine/serine/threonine phosphatase activityGO:00081389.5CDKN3, PTEN

Sources for Bannayan-Riley-Ruvalcaba Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet