MCID: BNN001
MIFTS: 54

Bannayan-Riley-Ruvalcaba Syndrome 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 pten hamartoma tumor syndrome and proteus syndrome, somatic, and has symptoms including abnormality of the penis, macrocephaly and multiple lipomas. 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 Senescence and Autophagy. 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 40)
idRelated DiseaseScoreTop Affiliating Genes
1pten hamartoma tumor syndrome12.4
2proteus syndrome, somatic11.4
3polyposis, juvenile intestinal11.2
4ruvalcaba syndrome11.1
5cowden syndrome 110.8
6vascular malformation10.5
7lipoma10.4
8breast cancer10.2
9lchad deficiency10.2
10arteriovenous fistula10.2
11cataract10.2
12chromosome 10q23 deletion syndrome10.2
13arteriovenous malformation10.2
14lipomatosis10.2
15myopathy10.2
16thyroiditis10.2
17familial breast cancer10.2
18peutz-jeghers syndrome10.1
19myotonia with skeletal abnormalities and mental retardation10.1HADHA, PTEN
20macular dystrophy, retinal, 1, north carolina type10.1BMPR1A, PTEN
21chromosome 15q24 deletion syndrome10.0BMPR1A, PTEN
22epilepsy, progressive myoclonic 3, with or without intracellular inclusions10.0CDKN3, PTEN
23polysyndactyly with cardiac malformation10.0BMPR1A, PTEN
24braf-related leopard syndrome9.9BMPR1A, SMAD4
25retinitis pigmentosa 319.9PTEN, SMAD4
26gallbladder papillomatosis9.9PTEN, SMAD4
27atrial septal defect coronary sinus9.9BMPR1A, SMAD4
28herpes simplex encephalitic 69.8PTEN, SMAD4
29contagious pustular dermatitis9.8BMPR1A, SMAD4
30alcohol abuse9.8
31exocrine pancreatic insufficiency9.8
32hypoglycemic coma9.8
33pancreatitis9.8
34glioblastoma9.8
35glomerulosclerosis, focal segmental, 79.6BMPR1A, PTEN, SMAD4
36tumor predisposition syndrome9.6BMPR1A, PTEN, SMAD4
37arrhythmogenic right ventricular cardiomyopathy9.5BMPR1A, SMAD4
38cowden syndrome 69.4CDKN3, PTEN, TNS1
39lipoma of the rectum8.9BMPR1A, CDKN3, PTEN, TNS1
40glioma susceptibility 28.1BMPR1A, 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:

 64 54 (show all 98)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the penis64 hallmark (90%) HP:0000036
2 macrocephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000256
3 multiple lipomas64 hallmark (90%) HP:0001012
4 hypermelanotic macule64 hallmark (90%) HP:0001034
5 cavernous hemangioma64 hallmark (90%) HP:0001048
6 muscular hypotonia64 54 hallmark (90%) Occasional (29-5%) HP:0001252
7 neurological speech impairment64 54 hallmark (90%) Occasional (29-5%) HP:0002167
8 arteriovenous malformation64 54 hallmark (90%) Very frequent (99-80%) HP:0100026
9 visceral angiomatosis64 54 hallmark (90%) Very frequent (99-80%) HP:0100761
10 intestinal polyposis64 54 hallmark (90%) Very frequent (99-80%) HP:0200008
11 pectus excavatum64 54 typical (50%) Frequent (79-30%) HP:0000767
12 joint hypermobility64 typical (50%) HP:0001382
13 obesity64 typical (50%) HP:0001513
14 gastrointestinal hemorrhage64 typical (50%) HP:0002239
15 scoliosis64 54 typical (50%) Frequent (79-30%) HP:0002650
16 uterine neoplasm64 54 typical (50%) Occasional (29-5%) HP:0010784
17 neoplasm of the breast64 54 typical (50%) Very frequent (99-80%) HP:0100013
18 cognitive impairment64 typical (50%) HP:0100543
19 tall stature64 54 occasional (7.5%) Occasional (29-5%) HP:0000098
20 abnormality of the palate64 occasional (7.5%) HP:0000174
21 dolichocephaly64 54 occasional (7.5%) Occasional (29-5%) HP:0000268
22 long philtrum64 54 occasional (7.5%) Occasional (29-5%) HP:0000343
23 micrognathia64 54 occasional (7.5%) Occasional (29-5%) HP:0000347
24 macrotia64 54 occasional (7.5%) Occasional (29-5%) HP:0000400
25 anteverted nares64 54 occasional (7.5%) Occasional (29-5%) HP:0000463
26 strabismus64 occasional (7.5%) HP:0000486
27 downslanted palpebral fissures64 occasional (7.5%) HP:0000494
28 visual impairment64 occasional (7.5%) HP:0000505
29 optic atrophy64 occasional (7.5%) HP:0000648
30 autism64 occasional (7.5%) HP:0000717
31 acanthosis nigricans64 occasional (7.5%) HP:0000956
32 cafe-au-lait spot64 occasional (7.5%) HP:0000957
33 cutis marmorata64 54 occasional (7.5%) Occasional (29-5%) HP:0000965
34 lymphedema64 54 occasional (7.5%) Occasional (29-5%) HP:0001004
35 abnormality of the metacarpal bones64 occasional (7.5%) HP:0001163
36 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
37 muscle weakness64 54 occasional (7.5%) Occasional (29-5%) HP:0001324
38 coronary artery disease64 occasional (7.5%) HP:0001677
39 aortic dilatation64 54 occasional (7.5%) Occasional (29-5%) HP:0001724
40 abnormality of coagulation64 occasional (7.5%) HP:0001928
41 hypoglycemia64 54 occasional (7.5%) Occasional (29-5%) HP:0001943
42 frontal bossing64 54 occasional (7.5%) Occasional (29-5%) HP:0002007
43 abdominal pain64 occasional (7.5%) HP:0002027
44 intracranial hemorrhage64 54 occasional (7.5%) Occasional (29-5%) HP:0002170
45 skeletal dysplasia64 occasional (7.5%) HP:0002652
46 meningioma64 54 occasional (7.5%) Occasional (29-5%) HP:0002858
47 short nose64 54 occasional (7.5%) Occasional (29-5%) HP:0003196
48 myopathy64 54 occasional (7.5%) Occasional (29-5%) HP:0003198
49 short stature64 54 occasional (7.5%) Very frequent (99-80%) HP:0004322
50 decreased body weight64 occasional (7.5%) HP:0004325
51 intestinal obstruction64 occasional (7.5%) HP:0005214
52 abnormality of thumb phalanx64 occasional (7.5%) HP:0009602
53 renal neoplasm64 occasional (7.5%) HP:0009726
54 neoplasm of the thyroid gland64 occasional (7.5%) HP:0100031
55 telangiectasia of the skin64 occasional (7.5%) HP:0100585
56 neoplasm of the adrenal cortex64 54 occasional (7.5%) Occasional (29-5%) HP:0100641
57 thyroiditis64 occasional (7.5%) HP:0100646
58 long penis64 HP:0000040
59 high palate64 HP:0000218
60 pseudopapilledema64 HP:0000538
61 amblyopia64 HP:0000646
62 delayed speech and language development64 HP:0000750
63 hashimoto thyroiditis64 54 Occasional (29-5%) HP:0000872
64 angiokeratoma64 HP:0001014
65 hemangioma64 HP:0001028
66 intellectual disability64 54 Occasional (29-5%) HP:0001249
67 delayed gross motor development64 54 Occasional (29-5%) HP:0002194
68 supernumerary nipple64 HP:0002558
69 hematochezia64 HP:0002573
70 intussusception64 HP:0002576
71 birth length greater than 97th percentile64 HP:0003517
72 macrodactyly64 HP:0004099
73 hamartomatous polyposis64 54 Very frequent (99-80%) HP:0004390
74 thick corpus callosum64 HP:0007074
75 abnormally prominent line of schwalbe64 HP:0007873
76 postnatal growth retardation64 HP:0008897
77 lipoma64 54 Very frequent (99-80%) HP:0012032
78 narrow palate54 Occasional (29-5%)
79 wide nose54 Occasional (29-5%)
80 abnormality of the optic nerve54 Occasional (29-5%)
81 telangiectasia54 Occasional (29-5%)
82 subcutaneous nodule54 Frequent (79-30%)
83 angina pectoris54 Occasional (29-5%)
84 subcutaneous hemorrhage54 Frequent (79-30%)
85 abnormality of the large intestine54 Very frequent (99-80%)
86 neoplasm54 Occasional (29-5%)
87 lymphoma54 Occasional (29-5%)
88 delayed skeletal maturation54 Occasional (29-5%)
89 thyroid carcinoma54 Occasional (29-5%)
90 skeletal muscle atrophy54 Occasional (29-5%)
91 nevus54 Very frequent (99-80%)
92 cachexia54 Occasional (29-5%)
93 capillary hemangiomas54 Very frequent (99-80%)
94 joint hyperflexibility54 Occasional (29-5%)
95 irregular hyperpigmentation54 Very frequent (99-80%)
96 multiple cafe-au-lait spots54 Occasional (29-5%)
97 abdominal wall muscle weakness54 Occasional (29-5%)
98 broad thumb54 Occasional (29-5%)

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-A9.8BMPR1A, 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:00053809.2BMPR1A, HADHA, PTEN, SMAD4
2MP:00053699.1BMPR1A, HADHA, PTEN, SMAD4
3MP:00053858.4BMPR1A, HADHA, PTEN, SMAD4, TNS1
4MP:00053678.2HADHA, 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, Bone, Cortex

Publications for Bannayan-Riley-Ruvalcaba Syndrome

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Articles related to Bannayan-Riley-Ruvalcaba Syndrome:

(show all 49)
idTitleAuthorsYear
1
Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome. (27535890)
2016
2
Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome. (27358095)
2016
3
A case of Bannayan-Riley-Ruvalcaba syndrome. A new clinical finding and brief review. (26228616)
2015
4
Torsion of a giant mesocolic lipoma in a child with Bannayan-Riley-Ruvalcaba syndrome. (25008800)
2014
5
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients. (23907246)
2013
6
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report. (24474112)
2013
7
Thyroid involvement in two patients with bannayan-riley-ruvalcaba syndrome. (24379037)
2013
8
Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome. (23662932)
2013
9
Bannayan-Riley-Ruvalcaba Syndrome (BRRS): An Uncommon Case of Haematochezia in a 3-year-old-boy. (23783019)
2013
10
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. (22327138)
2012
11
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
12
Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. (22911484)
2012
13
Recurrent and extensive vascular malformations in a patient with Bannayan--Riley--Ruvalcaba syndrome. (21856113)
2011
14
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. (21659347)
2011
15
Bannayan Riley Ruvalcaba syndrome. (20697678)
2010
16
Treatment of intractable abdominal pain patient with Bannayan-Riley-Ruvalcaba syndrome using spinal cord stimulation. (19813502)
2009
17
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. (19321504)
2009
18
Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. (18080326)
2008
19
Testicular hamartomas in a patient with Bannayan-Riley-Ruvalcaba syndrome. (18645085)
2008
20
Anesthetic management of a child with Bannayan-Riley-Ruvalcaba syndrome. (18499642)
2008
21
Airway obstruction caused by PTEN hamartoma (Bannayan-Riley-Ruvalcaba) syndrome. (18025323)
2007
22
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
23
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. (17033968)
2006
24
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. (16952599)
2006
25
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. (16894538)
2006
26
Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. (17032868)
2006
27
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (16773562)
2006
28
Bannayan-riley-ruvalcaba syndrome from the point of view of the pediatric surgeon. (16909363)
2006
29
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. (16198785)
2005
30
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. (14574156)
2003
31
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
32
Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. (12372056)
2002
33
Bannayan-Riley-Ruvalcaba syndrome: report of a family. (12117207)
2001
34
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. (11332402)
2001
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
Bannayan-Riley-Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps. (10679034)
2000
37
An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. (10640930)
2000
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
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. (10400993)
1999
40
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
41
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
42
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (9856571)
1998
43
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. (9661881)
1998
44
Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. (9352843)
1997
45
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. (9286463)
1997
46
Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. (8859033)
1996
47
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome. (7977472)
1994
48
Bannayan-Riley-Ruvalcaba syndrome. (1336932)
1992
49
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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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 31)
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)SNVPathogenicrs587781255GRCh37Chr 10, 89692895: 89692895
3PTENNM_000314.6(PTEN): c.781C> T (p.Gln261Ter)SNVPathogenicrs730882131GRCh38Chr 10, 87957999: 87957999
4PTENNM_000314.6(PTEN): c.511C> T (p.Gln171Ter)SNVPathogenicrs786204864GRCh37Chr 10, 89711893: 89711893
5PTENNM_000314.6(PTEN): c.49C> T (p.Gln17Ter)SNVPathogenicrs786204910GRCh37Chr 10, 89624275: 89624275
6PTENNM_000314.6(PTEN): c.71A> G (p.Asp24Gly)SNVPathogenicrs797044910GRCh37Chr 10, 89624297: 89624297
7PTENNM_000314.6(PTEN): c.437T> G (p.Leu146Ter)SNVPathogenicrs786204933GRCh37Chr 10, 89692953: 89692953
8PTENNM_000314.6(PTEN): c.860C> G (p.Ser287Ter)SNVLikely pathogenicrs863224909GRCh38Chr 10, 87960952: 87960952
9PTENNM_000314.6(PTEN): c.987_996dupTAAAGACAAA (p.Ala333Terfs)duplicationPathogenicrs864622387GRCh38Chr 10, 87961079: 87961088
10PTENNM_000314.6(PTEN): c.845delG (p.Gly282Aspfs)deletionPathogenicrs864622451GRCh38Chr 10, 87960937: 87960937
11PTENNM_000314.6(PTEN): c.132dupC (p.Val45Argfs)duplicationPathogenicrs878853933GRCh38Chr 10, 87894077: 87894077
12PTENNM_000314.6(PTEN): c.195C> G (p.Tyr65Ter)SNVPathogenicrs878853936GRCh37Chr 10, 89685300: 89685300
13PTENNM_000314.6(PTEN): c.53delA (p.Glu18Glyfs)deletionPathogenicrs878853940GRCh38Chr 10, 87864522: 87864522
14PTENNM_000314.6(PTEN): c.545dupT (p.Leu182Phefs)duplicationPathogenicrs878853941GRCh38Chr 10, 87952170: 87952170
15PTENNM_000314.6(PTEN): c.757_758dupAT (p.Lys254Serfs)duplicationPathogenicrs878853942GRCh38Chr 10, 87957975: 87957976
16PTENNM_000314.6(PTEN): c.877G> T (p.Gly293Ter)SNVPathogenicrs878853944GRCh38Chr 10, 87960969: 87960969
17PTENNM_000314.6(PTEN): c.80-?_492+?deldeletionPathogenicChr na, -1: -1
18PTENNM_000314.6(PTEN): c.697C> T (p.Arg233Ter)SNVPathogenicrs121909219GRCh37Chr 10, 89717672: 89717672
19PTENNM_000314.6(PTEN): c.510T> A (p.Ser170Arg)SNVPathogenicrs121909221GRCh37Chr 10, 89711892: 89711892
20PTENNM_000314.6(PTEN): c.388C> T (p.Arg130Ter)SNVPathogenicrs121909224GRCh37Chr 10, 89692904: 89692904
21PTENNM_000314.6(PTEN): c.586delC (p.His196Thrfs)deletionPathogenicrs587776670GRCh37Chr 10, 89711968: 89711968
22PTENNM_000314.6(PTEN): c.534_535delTAinsAT (p.Tyr178Ter)indelPathogenicrs397515374GRCh37Chr 10, 89711916: 89711917
23PTENNM_000314.6(PTEN): c.640C> T (p.Gln214Ter)SNVPathogenicrs121909227GRCh37Chr 10, 89717615: 89717615
24PTENNM_000314.6(PTEN): c.766G> T (p.Glu256Ter)SNVPathogenicrs121909228GRCh37Chr 10, 89717741: 89717741
25PTENNM_000314.6(PTEN): c.389G> A (p.Arg130Gln)SNVPathogenicrs121909229GRCh37Chr 10, 89692905: 89692905
26PTENNM_000314.6(PTEN): c.1003C> T (p.Arg335Ter)SNVPathogenicrs121909231GRCh37Chr 10, 89720852: 89720852
27PTENNM_000314.6(PTEN): c.507delC (p.Ser170Valfs)deletionPathogenicrs587776673GRCh37Chr 10, 89711889: 89711889
28PTENNM_000314.6(PTEN): c.-764G> ASNVPathogenicrs587776674GRCh37Chr 10, 89623462: 89623462
29PTENPTEN, DELdeletionPathogenicChr na, -1: -1
30PTENNM_000314.6(PTEN): c.395G> T (p.Gly132Val)SNVLikely pathogenic, Pathogenicrs121909241GRCh37Chr 10, 89692911: 89692911
31PTENNM_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 14)
idNameGO IDScoreTop Affiliating Genes
1peptidyl-tyrosine dephosphorylationGO:003533510.2CDKN3, PTEN
2negative regulation of ERK1 and ERK2 cascadeGO:007037310.2PTEN, SMAD4
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
10palate developmentGO:00600219.9BMPR1A, SMAD4
11positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.9BMPR1A, SMAD4
12positive regulation of SMAD protein import into nucleusGO:00603919.9BMPR1A, SMAD4
13negative regulation of cell proliferationGO:00082859.7CDKN3, PTEN, SMAD4
14transforming 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
1protein serine/threonine phosphatase activityGO:000472210.2CDKN3, PTEN
2protein tyrosine phosphatase activityGO:000472510.1CDKN3, PTEN
3protein tyrosine/serine/threonine phosphatase activityGO:00081389.6CDKN3, 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