MCID: BNN001
MIFTS: 56

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 50 11 46 23 24 13 52 68 12 66
Bannayan-Zonana Syndrome 11 46 23 24 68 48
Riley-Smith Syndrome 11 46 23 24 68
Ruvalcaba-Myhre-Smith Syndrome 11 23 24 68
Brrs 46 24 52 68
Bannayan-Ruvalcaba-Riley Syndrome 24 68 25
Bzs 46 24 68
Macrocephaly Multiple Lipomas and Hemangiomata 46 68
Myhre-Riley-Smith Syndrome 24 52
 
Rmss 46 68
Macrocephaly Pseudopapilledema and Multiple Hemangiomata 68
Macrocephaly Pseudopapilledema and Multiple Hemangiomas 46
Macrocephaly, Multiple Lipomas, and Hemangiomata 23
Ruvalcaba -Myhre-Smith Syndrome 46
Pten Hamartoma Tumor Syndrome 68
Ruvalcaba-Myhre Syndrome 24
Brr Syndrome 23
Phts 68

Characteristics:

Orphanet epidemiological data:

52
bannayan-riley-ruvalcaba syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

62
bannayan-riley-ruvalcaba syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset


Classifications:



External Ids:

OMIM50 153480
Disease Ontology11 DOID:0050657
Orphanet52 ORPHA109
ICD10 via Orphanet29 Q87.8
UMLS via Orphanet67 C0265326
MedGen35 C0265326
MeSH37 D006223

Summaries for Bannayan-Riley-Ruvalcaba Syndrome

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NIH Rare Diseases:46 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 ruvalcaba syndrome and cowden disease, 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 muscle and embryo.

Genetics Home Reference:24 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:50 Blumenthal and Dennis (2008) provided a detailed review of PTEN-related tumor syndromes. (153480) more...

UniProtKB/Swiss-Prot:68 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.

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
1ruvalcaba syndrome11.2
2cowden disease11.0
3vascular malformation10.6
4lipoma10.5
5cowden syndrome 110.5
6proteus syndrome, somatic10.5
7pten hamartoma tumor syndrome10.5
8breast cancer10.4
9lchad deficiency10.4
10arteriovenous fistula10.4
11cataract10.4
12chromosome 10q23 deletion syndrome10.4
13arteriovenous malformation10.4
14lipomatosis10.4
15myopathy10.4
16thyroiditis10.4
17familial breast cancer10.4
18myotonia with skeletal abnormalities and mental retardation10.2HADHA, PTEN
19macular dystrophy, retinal, 1, north carolina type10.1BMPR1A, PTEN
20chromosome 15q24 deletion syndrome10.1BMPR1A, PTEN
21epilepsy, progressive myoclonic 3, with or without intracellular inclusions10.0CDKN3, PTEN
22polysyndactyly with cardiac malformation10.0BMPR1A, PTEN
23braf-related leopard syndrome9.9BMPR1A, SMAD4
24retinitis pigmentosa 319.9PTEN, SMAD4
25gallbladder papillomatosis9.9PTEN, SMAD4
26autosomal recessive optic atrophy, opa8 type9.9BMPR1A, SMAD4
27alcohol abuse9.9
28exocrine pancreatic insufficiency9.9
29hypoglycemic coma9.9
30pancreatitis9.9
31glioblastoma9.9
32atrial septal defect coronary sinus9.9BMPR1A, SMAD4
33herpes simplex encephalitic 69.8PTEN, SMAD4
34contagious pustular dermatitis9.8BMPR1A, SMAD4
35glomerulosclerosis, focal segmental, 79.6BMPR1A, PTEN, SMAD4
36tumor predisposition syndrome9.6BMPR1A, PTEN, SMAD4
37arrhythmogenic right ventricular cardiomyopathy9.4BMPR1A, SMAD4
38cowden syndrome 69.4CDKN3, PTEN, TNS1
39lipoma of the rectum8.8BMPR1A, CDKN3, PTEN, TNS1
40glioma susceptibility 27.9BMPR1A, 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 for Bannayan-Riley-Ruvalcaba Syndrome

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Symptoms by clinical synopsis from OMIM:

153480

Clinical features from OMIM:

153480

Symptoms:

 52 (show all 55)
  • tall stature
  • narrow palate
  • macrocephaly
  • dolichocephaly
  • long philtrum
  • micrognathia
  • macrotia
  • wide nose
  • anteverted nares
  • abnormality of the optic nerve
  • pectus excavatum
  • hashimoto thyroiditis
  • cutis marmorata
  • lymphedema
  • telangiectasia
  • intellectual disability
  • seizures
  • muscular hypotonia
  • muscle weakness
  • subcutaneous nodule
  • angina pectoris
  • aortic dilatation
  • subcutaneous hemorrhage
  • hypoglycemia
  • frontal bossing
  • neurological speech impairment
  • intracranial hemorrhage
  • delayed gross motor development
  • abnormality of the large intestine
  • scoliosis
  • neoplasm
  • lymphoma
  • delayed skeletal maturation
  • meningioma
  • thyroid carcinoma
  • short nose
  • myopathy
  • skeletal muscle atrophy
  • nevus
  • short stature
  • cachexia
  • hamartomatous polyposis
  • capillary hemangiomas
  • joint hyperflexibility
  • irregular hyperpigmentation
  • multiple cafe-au-lait spots
  • abdominal wall muscle weakness
  • uterine neoplasm
  • broad thumb
  • lipoma
  • neoplasm of the breast
  • arteriovenous malformation
  • neoplasm of the adrenal cortex
  • visceral angiomatosis
  • intestinal polyposis

HPO human phenotypes related to Bannayan-Riley-Ruvalcaba Syndrome:

(show all 92)
id Description Frequency HPO Source Accession
1 abnormality of the penis hallmark (90%) HP:0000036
2 macrocephaly hallmark (90%) HP:0000256
3 multiple lipomas hallmark (90%) HP:0001012
4 hypermelanotic macule hallmark (90%) HP:0001034
5 cavernous hemangioma hallmark (90%) HP:0001048
6 muscular hypotonia hallmark (90%) HP:0001252
7 neurological speech impairment hallmark (90%) HP:0002167
8 arteriovenous malformation hallmark (90%) HP:0100026
9 visceral angiomatosis hallmark (90%) HP:0100761
10 intestinal polyposis hallmark (90%) HP:0200008
11 pectus excavatum typical (50%) HP:0000767
12 joint hypermobility typical (50%) HP:0001382
13 obesity typical (50%) HP:0001513
14 gastrointestinal hemorrhage typical (50%) HP:0002239
15 scoliosis typical (50%) HP:0002650
16 uterine neoplasm typical (50%) HP:0010784
17 neoplasm of the breast typical (50%) HP:0100013
18 cognitive impairment typical (50%) HP:0100543
19 tall stature occasional (7.5%) HP:0000098
20 abnormality of the palate occasional (7.5%) HP:0000174
21 dolichocephaly occasional (7.5%) HP:0000268
22 long philtrum occasional (7.5%) HP:0000343
23 micrognathia occasional (7.5%) HP:0000347
24 macrotia occasional (7.5%) HP:0000400
25 anteverted nares occasional (7.5%) HP:0000463
26 strabismus occasional (7.5%) HP:0000486
27 downslanted palpebral fissures occasional (7.5%) HP:0000494
28 visual impairment occasional (7.5%) HP:0000505
29 optic atrophy occasional (7.5%) HP:0000648
30 autism occasional (7.5%) HP:0000717
31 acanthosis nigricans occasional (7.5%) HP:0000956
32 cafe-au-lait spot occasional (7.5%) HP:0000957
33 cutis marmorata occasional (7.5%) HP:0000965
34 lymphedema occasional (7.5%) HP:0001004
35 abnormality of the metacarpal bones occasional (7.5%) HP:0001163
36 seizures occasional (7.5%) HP:0001250
37 muscle weakness occasional (7.5%) HP:0001324
38 coronary artery disease occasional (7.5%) HP:0001677
39 aortic dilatation occasional (7.5%) HP:0001724
40 abnormality of coagulation occasional (7.5%) HP:0001928
41 hypoglycemia occasional (7.5%) HP:0001943
42 frontal bossing occasional (7.5%) HP:0002007
43 abdominal pain occasional (7.5%) HP:0002027
44 intracranial hemorrhage occasional (7.5%) HP:0002170
45 skeletal dysplasia occasional (7.5%) HP:0002652
46 meningioma occasional (7.5%) HP:0002858
47 short nose occasional (7.5%) HP:0003196
48 myopathy occasional (7.5%) HP:0003198
49 short stature occasional (7.5%) HP:0004322
50 decreased body weight occasional (7.5%) HP:0004325
51 intestinal obstruction occasional (7.5%) HP:0005214
52 abnormality of thumb phalanx occasional (7.5%) HP:0009602
53 renal neoplasm occasional (7.5%) HP:0009726
54 neoplasm of the thyroid gland occasional (7.5%) HP:0100031
55 telangiectasia of the skin occasional (7.5%) HP:0100585
56 neoplasm of the adrenal cortex occasional (7.5%) HP:0100641
57 thyroiditis occasional (7.5%) HP:0100646
58 long penis HP:0000040
59 high palate HP:0000218
60 macrocephaly HP:0000256
61 strabismus HP:0000486
62 downslanted palpebral fissures HP:0000494
63 pseudopapilledema HP:0000538
64 amblyopia HP:0000646
65 delayed speech and language development HP:0000750
66 pectus excavatum HP:0000767
67 hashimoto thyroiditis HP:0000872
68 acanthosis nigricans HP:0000956
69 cafe-au-lait spot HP:0000957
70 multiple lipomas HP:0001012
71 angiokeratoma HP:0001014
72 hemangioma HP:0001028
73 intellectual disability HP:0001249
74 seizures HP:0001250
75 muscular hypotonia HP:0001252
76 joint hypermobility HP:0001382
77 hypoglycemia HP:0001943
78 frontal bossing HP:0002007
79 delayed gross motor development HP:0002194
80 supernumerary nipple HP:0002558
81 hematochezia HP:0002573
82 intussusception HP:0002576
83 scoliosis HP:0002650
84 meningioma HP:0002858
85 myopathy HP:0003198
86 birth length greater than 97th percentile HP:0003517
87 macrodactyly HP:0004099
88 hamartomatous polyposis HP:0004390
89 thick corpus callosum HP:0007074
90 abnormally prominent line of schwalbe HP:0007873
91 postnatal growth retardation HP:0008897
92 lipoma HP:0012032

UMLS symptoms related to Bannayan-Riley-Ruvalcaba Syndrome:


seizures

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 Syndrome25 23 PTEN

Anatomical Context for Bannayan-Riley-Ruvalcaba Syndrome

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

34
Skin, Thyroid, Breast, Adrenal cortex, Skeletal muscle, Bone, Cortex

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

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5BMPR1A, HADHA, PTEN, SMAD4
2MP:00053808.5BMPR1A, HADHA, PTEN, SMAD4
3MP:00053678.2HADHA, PTEN, SMAD4, TNS1
4MP:00053857.3BMPR1A, HADHA, PTEN, SMAD4, TNS1

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:

68
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 29)
id Gene Variation Type Significance SNP ID Assembly Location
1PTENNM_000314.6(PTEN): c.338G> T (p.Ser113Ile)single nucleotide variantPathogenicrs587781254GRCh37Chr 10, 89692854: 89692854
2PTENNM_000314.6(PTEN): c.379G> A (p.Gly127Arg)single nucleotide variantPathogenicrs587781255GRCh37Chr 10, 89692895: 89692895
3PTENNM_000314.6(PTEN): c.781C> T (p.Gln261Ter)single nucleotide variantPathogenicrs730882131GRCh38Chr 10, 87957999: 87957999
4PTENNM_000314.6(PTEN): c.511C> T (p.Gln171Ter)single nucleotide variantPathogenicrs786204864GRCh37Chr 10, 89711893: 89711893
5PTENNM_000314.6(PTEN): c.49C> T (p.Gln17Ter)single nucleotide variantPathogenicrs786204910GRCh37Chr 10, 89624275: 89624275
6PTENNM_000314.6(PTEN): c.71A> G (p.Asp24Gly)single nucleotide variantPathogenicrs797044910GRCh38Chr 10, 87864540: 87864540
7PTENNM_000314.6(PTEN): c.437T> G (p.Leu146Ter)single nucleotide variantPathogenicrs786204933GRCh38Chr 10, 87933196: 87933196
8PTENNM_000314.6(PTEN): c.987_996dupTAAAGACAAA (p.Ala333Terfs)duplicationPathogenicrs864622387GRCh38Chr 10, 87961079: 87961088
9PTENNM_000314.6(PTEN): c.845delG (p.Gly282Aspfs)deletionPathogenicrs864622451GRCh38Chr 10, 87960937: 87960937
10PTENNM_000314.6(PTEN): c.132dupC (p.Val45Argfs)duplicationPathogenicrs878853933GRCh38Chr 10, 87894077: 87894077
11PTENNM_000314.6(PTEN): c.195C> G (p.Tyr65Ter)single nucleotide variantPathogenicrs878853936GRCh37Chr 10, 89685300: 89685300
12PTENNM_000314.6(PTEN): c.53delA (p.Glu18Glyfs)deletionPathogenicrs878853940GRCh38Chr 10, 87864522: 87864522
13PTENNM_000314.6(PTEN): c.545dupT (p.Leu182Phefs)duplicationPathogenicrs878853941GRCh38Chr 10, 87952170: 87952170
14PTENNM_000314.6(PTEN): c.757_758dupAT (p.Lys254Serfs)duplicationPathogenicrs878853942GRCh38Chr 10, 87957975: 87957976
15PTENNM_000314.6(PTEN): c.877G> T (p.Gly293Ter)single nucleotide variantPathogenicrs878853944GRCh38Chr 10, 87960969: 87960969
16PTENNM_000314.6(PTEN): c.697C> T (p.Arg233Ter)single nucleotide variantPathogenicrs121909219GRCh37Chr 10, 89717672: 89717672
17PTENNM_000314.6(PTEN): c.510T> A (p.Ser170Arg)single nucleotide variantPathogenicrs121909221GRCh37Chr 10, 89711892: 89711892
18PTENNM_000314.6(PTEN): c.388C> T (p.Arg130Ter)single nucleotide variantPathogenicrs121909224GRCh37Chr 10, 89692904: 89692904
19PTENNM_000314.6(PTEN): c.586delC (p.His196Thrfs)deletionPathogenicrs587776670GRCh37Chr 10, 89711968: 89711968
20PTENNM_000314.6(PTEN): c.534_535delTAinsAT (p.Tyr178Ter)indelPathogenicrs397515374GRCh37Chr 10, 89711916: 89711917
21PTENNM_000314.6(PTEN): c.640C> T (p.Gln214Ter)single nucleotide variantPathogenicrs121909227GRCh37Chr 10, 89717615: 89717615
22PTENNM_000314.6(PTEN): c.766G> T (p.Glu256Ter)single nucleotide variantPathogenicrs121909228GRCh37Chr 10, 89717741: 89717741
23PTENNM_000314.6(PTEN): c.389G> A (p.Arg130Gln)single nucleotide variantPathogenicrs121909229GRCh37Chr 10, 89692905: 89692905
24PTENNM_000314.6(PTEN): c.1003C> T (p.Arg335Ter)single nucleotide variantPathogenicrs121909231GRCh37Chr 10, 89720852: 89720852
25PTENNM_000314.6(PTEN): c.507delC (p.Ser170Valfs)deletionPathogenicrs587776673GRCh37Chr 10, 89711889: 89711889
26PTENNM_000314.6(PTEN): c.-764G> Asingle nucleotide variantPathogenicrs587776674GRCh37Chr 10, 89623462: 89623462
27PTENPTEN, DELdeletionPathogenic
28PTENNM_000314.6(PTEN): c.395G> T (p.Gly132Val)single nucleotide variantLikely pathogenic, Pathogenicrs121909241GRCh37Chr 10, 89692911: 89692911
29PTENNM_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
1regulation of cyclin-dependent protein serine/threonine kinase activityGO:00000799.9CDKN3, PTEN
2peptidyl-tyrosine dephosphorylationGO:00353359.9CDKN3, PTEN
3transforming growth factor beta receptor signaling pathwayGO:00071799.8BMPR1A, SMAD4
4embryonic digit morphogenesisGO:00427339.7BMPR1A, SMAD4
5positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.7BMPR1A, SMAD4
6positive regulation of SMAD protein import into nucleusGO:00603919.7BMPR1A, SMAD4
7negative regulation of ERK1 and ERK2 cascadeGO:00703739.7PTEN, SMAD4
8endoderm developmentGO:00074929.7BMPR1A, SMAD4
9anterior/posterior pattern specificationGO:00099529.7BMPR1A, SMAD4
10developmental growthGO:00485899.6BMPR1A, SMAD4
11BMP signaling pathwayGO:00305099.4BMPR1A, SMAD4
12cellular response to BMP stimulusGO:00717739.3BMPR1A, SMAD4
13negative regulation of cell proliferationGO:00082859.1CDKN3, PTEN, SMAD4
14palate developmentGO:00600219.0BMPR1A, SMAD4

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

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine/serine/threonine phosphatase activityGO:00081389.6CDKN3, PTEN
2protein tyrosine phosphatase activityGO:00047259.6CDKN3, PTEN
3protein serine/threonine phosphatase activityGO:00047229.3CDKN3, PTEN

Sources for Bannayan-Riley-Ruvalcaba Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
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30ICD9CM
31IUPHAR
32KEGG
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39MGI
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65Tumor Gene Family of Databases
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