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

Aliases & Descriptions for Bannayan-Riley-Ruvalcaba Syndrome:

Name: Bannayan-Riley-Ruvalcaba Syndrome 54 12 50 24 25 56 66 13 14 69
Bannayan-Zonana Syndrome 12 50 24 25 66 52
Riley-Smith Syndrome 12 50 24 25 66
Ruvalcaba-Myhre-Smith Syndrome 12 24 25 66
Brrs 50 25 56 66
Bannayan-Ruvalcaba-Riley Syndrome 25 66 29
Bzs 50 25 66
Macrocephaly Multiple Lipomas and Hemangiomata 50 66
Pten Hamartoma Tumor Syndrome 66 69
Myhre-Riley-Smith Syndrome 25 56
Rmss 50 66
Macrocephaly Pseudopapilledema and Multiple Hemangiomata 66
Macrocephaly Pseudopapilledema and Multiple Hemangiomas 50
Macrocephaly, Multiple Lipomas, and Hemangiomata 24
Ruvalcaba -Myhre-Smith Syndrome 50
Ruvalcaba-Myhre Syndrome 25
Brr Syndrome 24
Phts 66

Characteristics:

Orphanet epidemiological data:

56
bannayan-riley-ruvalcaba syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

HPO:

32
bannayan-riley-ruvalcaba syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM 54 153480
Disease Ontology 12 DOID:0050657
Orphanet 56 ORPHA109
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 70 C0265326
MedGen 40 C0265326
MeSH 42 D006223

Summaries for Bannayan-Riley-Ruvalcaba Syndrome

NIH Rare Diseases : 50 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 cachexia, seizures and angina pectoris. An important gene associated with Bannayan-Riley-Ruvalcaba Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are Senescence and Autophagy in Cancer and Androgen receptor signaling pathway. Affiliated tissues include skin, thyroid and breast, and related phenotypes are Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance and Decreased sensitivity to paclitaxel

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 : 54 Blumenthal and Dennis (2008) provided a detailed review of PTEN-related tumor... (153480) more...

UniProtKB/Swiss-Prot : 66 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

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

(show all 38)
id Related Disease Score Top Affiliating Genes
1 cowden disease 11.7
2 cowden syndrome 1 11.4
3 proteus syndrome, somatic 11.4
4 pten hamartoma tumor syndrome 11.4
5 polyposis, juvenile intestinal 11.2
6 ruvalcaba syndrome 11.1
7 vascular malformation 10.5
8 lipoma 10.4
9 chromosome 10q23 deletion syndrome 10.2
10 arteriovenous malformation 10.2
11 lipomatosis 10.2
12 myopathy 10.2
13 breast cancer 10.2
14 thyroiditis 10.2
15 lchad deficiency 10.2
16 intussusception 10.2
17 familial breast cancer 10.2
18 arteriovenous fistula 10.2
19 cataract 10.2
20 chromosome 16p12.1 deletion syndrome, 520kb 10.1 BMPR1A PTEN
21 rhizomelic dysplasia, patterson-lowry type 10.1 BMPR1A PTEN
22 porencephaly, cerebellar hypoplasia, and internal malformations 10.0 BMPR1A PTEN
23 c5orf42-related joubert syndrome 10.0 BMPR1A SMAD4
24 pseudoainhum 10.0 BMPR1A SMAD4
25 hypothalamic adipsic hypernatraemia syndrome 10.0 BMPR1A SMAD4
26 herpes simplex encephalitic 6 10.0 PTEN SMAD4
27 melanoma, cutaneous malignant, 6 10.0 CDKN3 PTEN
28 charcot-marie-tooth disease, axonal, type 2f 9.9 CDKN3 PTEN
29 glomerulosclerosis, focal segmental, 7 9.9 BMPR1A PTEN SMAD4
30 acromesomelic dysplasia, maroteaux type 9.9 PTEN SMAD4
31 hypoglycemic coma 9.8
32 pancreatitis 9.8
33 glioblastoma 9.8
34 alcohol abuse 9.8
35 exocrine pancreatic insufficiency 9.8
36 childhood teratocarcinoma of the testis 9.3 BMPR1A CDKN3 PTEN SMAD4 TNS1
37 macrocephaly/autism syndrome 9.2 BMPR1A CDKN3 HADHA PTEN SMAD4 TNS1
38 pierre robin syndrome and oligodactyly 9.2 BMPR1A 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

Symptoms by clinical synopsis from OMIM:

153480

Clinical features from OMIM:

153480

Human phenotypes related to Bannayan-Riley-Ruvalcaba Syndrome:

56 32 (show top 50) (show all 76)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cachexia 56 32 Occasional (29-5%) HP:0004326
2 seizures 56 32 Occasional (29-5%) HP:0001250
3 angina pectoris 56 32 Occasional (29-5%) HP:0001681
4 macrocephaly 56 32 Very frequent (99-80%) HP:0000256
5 pectus excavatum 56 32 Frequent (79-30%) HP:0000767
6 frontal bossing 56 32 Occasional (29-5%) HP:0002007
7 intellectual disability 56 32 Occasional (29-5%) HP:0001249
8 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
9 neurological speech impairment 56 32 Occasional (29-5%) HP:0002167
10 scoliosis 56 32 Frequent (79-30%) HP:0002650
11 narrow palate 56 32 Occasional (29-5%) HP:0000189
12 macrotia 56 32 Occasional (29-5%) HP:0000400
13 delayed skeletal maturation 56 32 Occasional (29-5%) HP:0002750
14 short nose 56 32 Occasional (29-5%) HP:0003196
15 anteverted nares 56 32 Occasional (29-5%) HP:0000463
16 short stature 56 32 Very frequent (99-80%) HP:0004322
17 broad thumb 56 32 Occasional (29-5%) HP:0011304
18 myopathy 56 32 Occasional (29-5%) HP:0003198
19 subcutaneous nodule 56 32 Frequent (79-30%) HP:0001482
20 abdominal wall muscle weakness 56 32 Occasional (29-5%) HP:0009023
21 hypoglycemia 56 32 Occasional (29-5%) HP:0001943
22 skeletal muscle atrophy 56 32 Occasional (29-5%) HP:0003202
23 long philtrum 56 32 Occasional (29-5%) HP:0000343
24 micrognathia 56 32 Occasional (29-5%) HP:0000347
25 joint hyperflexibility 56 32 Occasional (29-5%) HP:0005692
26 dolichocephaly 56 32 Occasional (29-5%) HP:0000268
27 lymphedema 56 32 Occasional (29-5%) HP:0001004
28 arteriovenous malformation 56 32 Very frequent (99-80%) HP:0100026
29 hashimoto thyroiditis 56 32 Occasional (29-5%) HP:0000872
30 nevus 56 32 Very frequent (99-80%) HP:0003764
31 aortic dilatation 56 32 Occasional (29-5%) HP:0001724
32 capillary hemangiomas 56 32 Very frequent (99-80%) HP:0005306
33 visceral angiomatosis 56 32 Very frequent (99-80%) HP:0100761
34 multiple cafe-au-lait spots 56 32 Occasional (29-5%) HP:0007565
35 irregular hyperpigmentation 56 32 Very frequent (99-80%) HP:0007400
36 intracranial hemorrhage 56 32 Occasional (29-5%) HP:0002170
37 lymphoma 56 32 Occasional (29-5%) HP:0002665
38 subcutaneous hemorrhage 56 32 Frequent (79-30%) HP:0001933
39 neoplasm of the adrenal cortex 56 32 Occasional (29-5%) HP:0100641
40 meningioma 56 32 Occasional (29-5%) HP:0002858
41 intestinal polyposis 56 32 Very frequent (99-80%) HP:0200008
42 hamartomatous polyposis 56 32 Very frequent (99-80%) HP:0004390
43 lipoma 56 32 Very frequent (99-80%) HP:0012032
44 wide nose 56 32 Occasional (29-5%) HP:0000445
45 tall stature 56 32 Occasional (29-5%) HP:0000098
46 neoplasm of the breast 56 32 Very frequent (99-80%) HP:0100013
47 cutis marmorata 56 32 Occasional (29-5%) HP:0000965
48 delayed gross motor development 56 32 Occasional (29-5%) HP:0002194
49 thyroid carcinoma 56 32 Occasional (29-5%) HP:0002890
50 uterine neoplasm 56 32 Occasional (29-5%) HP:0010784

UMLS symptoms related to Bannayan-Riley-Ruvalcaba Syndrome:


seizures

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.43 BMPR1A CDKN3 PTEN
2 Decreased sensitivity to paclitaxel GR00112-A-0 9.16 PTEN SMAD4
3 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.13 BMPR1A CDKN3 PTEN
4 Increased mitotic index GR00110-A-0 8.8 TNS1 BMPR1A SMAD4

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 TNS1 BMPR1A HADHA PTEN SMAD4
2 muscle MP:0005369 9.26 BMPR1A HADHA PTEN SMAD4
3 renal/urinary system MP:0005367 8.92 HADHA PTEN SMAD4 TNS1

Drugs & Therapeutics for Bannayan-Riley-Ruvalcaba Syndrome

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

Genetic Tests for Bannayan-Riley-Ruvalcaba Syndrome

Genetic tests related to Bannayan-Riley-Ruvalcaba Syndrome:

id Genetic test Affiliating Genes
1 Bannayan-Riley-Ruvalcaba Syndrome 29 24 PTEN

Anatomical Context for Bannayan-Riley-Ruvalcaba Syndrome

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

39
Skin, Thyroid, Breast, Skeletal Muscle, Cortex, Adrenal Cortex, Spinal Cord

Publications for Bannayan-Riley-Ruvalcaba Syndrome

Articles related to Bannayan-Riley-Ruvalcaba Syndrome:

(show top 50) (show all 51)
id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 PTEN p.Tyr68His VAR_007462 rs398123317
2 PTEN p.Ser170Arg VAR_007470 rs121909221
3 PTEN p.Ala34Asp VAR_008734
4 PTEN p.Cys105Tyr VAR_008735 rs587782343
5 PTEN p.Ile135Val VAR_008736 rs587782360
6 PTEN p.Pro246Leu VAR_008740 rs587782350
7 PTEN p.Cys105Phe VAR_026256
8 PTEN p.Asp107Tyr VAR_026257

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

6 (show all 45)
id Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh37 Chromosome 10, 89717672: 89717672
2 PTEN NM_000314.6(PTEN): c.510T> A (p.Ser170Arg) single nucleotide variant Pathogenic rs121909221 GRCh37 Chromosome 10, 89711892: 89711892
3 PTEN NM_000314.6(PTEN): c.347_351delACAAT (p.Asp116Alafs) deletion Pathogenic rs587776666 GRCh37 Chromosome 10, 89692863: 89692867
4 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909224 GRCh37 Chromosome 10, 89692904: 89692904
5 PTEN NM_000314.6(PTEN): c.586delC (p.His196Thrfs) deletion Pathogenic rs587776670 GRCh37 Chromosome 10, 89711968: 89711968
6 PTEN NM_000314.6(PTEN): c.534_535delTAinsAT (p.Tyr178Ter) indel Pathogenic rs397515374 GRCh37 Chromosome 10, 89711916: 89711917
7 PTEN NM_000314.6(PTEN): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs121909227 GRCh37 Chromosome 10, 89717615: 89717615
8 PTEN NM_000314.6(PTEN): c.766G> T (p.Glu256Ter) single nucleotide variant Pathogenic rs121909228 GRCh37 Chromosome 10, 89717741: 89717741
9 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909229 GRCh37 Chromosome 10, 89692905: 89692905
10 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909231 GRCh37 Chromosome 10, 89720852: 89720852
11 PTEN NM_000314.6(PTEN): c.507delC (p.Ser170Valfs) deletion Pathogenic rs587776673 GRCh37 Chromosome 10, 89711889: 89711889
12 PTEN PTEN, DEL deletion Pathogenic
13 PTEN NM_000314.6(PTEN): c.395G> T (p.Gly132Val) single nucleotide variant Pathogenic/Likely pathogenic rs121909241 GRCh37 Chromosome 10, 89692911: 89692911
14 PTEN NM_000314.6(PTEN): c.955_958delACTT (p.Thr319Terfs) deletion Pathogenic rs146650273 GRCh37 Chromosome 10, 89720804: 89720807
15 PTEN NM_000314.6(PTEN): c.800delA (p.Lys267Argfs) deletion Pathogenic rs121913289 GRCh37 Chromosome 10, 89717775: 89717775
16 PTEN NM_000314.6(PTEN): c.338G> T (p.Ser113Ile) single nucleotide variant Pathogenic rs587781254 GRCh37 Chromosome 10, 89692854: 89692854
17 PTEN NM_000314.6(PTEN): c.379G> A (p.Gly127Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587781255 GRCh37 Chromosome 10, 89692895: 89692895
18 PTEN NM_000314.6(PTEN): c.48T> A (p.Tyr16Ter) single nucleotide variant Pathogenic rs587782187 GRCh37 Chromosome 10, 89624274: 89624274
19 PTEN NM_000314.6(PTEN): c.781C> T (p.Gln261Ter) single nucleotide variant Pathogenic rs730882131 GRCh38 Chromosome 10, 87957999: 87957999
20 PTEN NM_000314.6(PTEN): c.406T> C (p.Cys136Arg) single nucleotide variant Pathogenic rs786201044 GRCh37 Chromosome 10, 89692922: 89692922
21 PTEN NM_000314.6(PTEN): c.49C> T (p.Gln17Ter) single nucleotide variant Pathogenic rs786204910 GRCh37 Chromosome 10, 89624275: 89624275
22 PTEN NM_000314.6(PTEN): c.491delA (p.Lys164Argfs) deletion Pathogenic rs786204900 GRCh37 Chromosome 10, 89693007: 89693007
23 PTEN NM_000314.6(PTEN): c.511C> T (p.Gln171Ter) single nucleotide variant Pathogenic rs786204864 GRCh37 Chromosome 10, 89711893: 89711893
24 PTEN NM_000314.6(PTEN): c.71A> G (p.Asp24Gly) single nucleotide variant Pathogenic rs797044910 GRCh37 Chromosome 10, 89624297: 89624297
25 PTEN NM_000314.6(PTEN): c.437T> G (p.Leu146Ter) single nucleotide variant Pathogenic rs786204933 GRCh38 Chromosome 10, 87933196: 87933196
26 PTEN NM_000314.6(PTEN): c.860C> G (p.Ser287Ter) single nucleotide variant Likely pathogenic rs863224909 GRCh38 Chromosome 10, 87960952: 87960952
27 PTEN NM_000314.6(PTEN): c.845delG (p.Gly282Aspfs) deletion Pathogenic rs864622451 GRCh38 Chromosome 10, 87960937: 87960937
28 PTEN NM_000314.6(PTEN): c.987_996dupTAAAGACAAA (p.Ala333Terfs) duplication Pathogenic rs864622387 GRCh38 Chromosome 10, 87961079: 87961088
29 PTEN NM_000314.6(PTEN): c.53delA (p.Glu18Glyfs) deletion Pathogenic rs878853940 GRCh38 Chromosome 10, 87864522: 87864522
30 PTEN NM_000314.6(PTEN): c.132dupC (p.Val45Argfs) duplication Pathogenic rs878853933 GRCh38 Chromosome 10, 87894077: 87894077
31 PTEN NM_000314.6(PTEN): c.195C> G (p.Tyr65Ter) single nucleotide variant Pathogenic rs878853936 GRCh37 Chromosome 10, 89685300: 89685300
32 PTEN NM_000314.6(PTEN): c.545dupT (p.Leu182Phefs) duplication Pathogenic rs878853941 GRCh38 Chromosome 10, 87952170: 87952170
33 PTEN NM_000314.6(PTEN): c.757_758dupAT (p.Lys254Serfs) duplication Pathogenic rs878853942 GRCh38 Chromosome 10, 87957975: 87957976
34 PTEN NM_000314.6(PTEN): c.877G> T (p.Gly293Ter) single nucleotide variant Pathogenic rs878853944 GRCh37 Chromosome 10, 89720726: 89720726
35 PTEN NM_000314.6(PTEN): c.80-?_492+?del deletion Pathogenic
36 PTEN NM_000314.6(PTEN): c.445C> T (p.Gln149Ter) single nucleotide variant Pathogenic rs1060500122 GRCh38 Chromosome 10, 87933204: 87933204
37 PTEN NC_000010.11: g.(?_87894025)_(87894109_?)del deletion Pathogenic GRCh38 Chromosome 10, 87894025: 87894109
38 PTEN NM_000314.6(PTEN): c.945T> G (p.Tyr315Ter) single nucleotide variant Pathogenic rs876661058 GRCh38 Chromosome 10, 87961037: 87961037
39 PTEN NM_000314.6(PTEN): c.200dupT (p.Tyr68Ilefs) duplication Pathogenic GRCh38 Chromosome 10, 87925548: 87925548
40 PTEN NM_000314.6(PTEN): c.723dupT (p.Glu242Terfs) duplication Pathogenic GRCh38 Chromosome 10, 87957941: 87957941
41 PTEN NM_000314.6(PTEN): c.176C> G (p.Ser59Ter) single nucleotide variant Pathogenic rs1060500116 GRCh38 Chromosome 10, 87925524: 87925524
42 PTEN NM_000314.6(PTEN): c.346_358dupGACAATCATGTTG (p.Ala120Glyfs) duplication Pathogenic GRCh38 Chromosome 10, 87933105: 87933117
43 PTEN NM_000314.6(PTEN): c.675T> G (p.Tyr225Ter) single nucleotide variant Pathogenic rs1057520900 GRCh37 Chromosome 10, 89717650: 89717650
44 PTEN NM_000314.6(PTEN): c.750_751delTG (p.Cys250Trpfs) deletion Pathogenic rs1060500119 GRCh38 Chromosome 10, 87957968: 87957969
45 PTEN NM_000314.6(PTEN): c.629delC (p.Thr210Ilefs) deletion Pathogenic rs1060500114 GRCh38 Chromosome 10, 87952254: 87952254

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

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 47170 10 89675267 89701622 Deletion PTEN Bannayan-Riley-Ruvalcaba syndrome

Expression for Bannayan-Riley-Ruvalcaba Syndrome

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

Pathways for Bannayan-Riley-Ruvalcaba Syndrome

GO Terms for Bannayan-Riley-Ruvalcaba Syndrome

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.65 CDKN3 PTEN SMAD4
2 peptidyl-tyrosine dephosphorylation GO:0035335 9.55 CDKN3 PTEN
3 anterior/posterior pattern specification GO:0009952 9.54 BMPR1A SMAD4
4 transforming growth factor beta receptor signaling pathway GO:0007179 9.52 BMPR1A SMAD4
5 BMP signaling pathway GO:0030509 9.51 BMPR1A SMAD4
6 palate development GO:0060021 9.49 BMPR1A SMAD4
7 embryonic digit morphogenesis GO:0042733 9.46 BMPR1A SMAD4
8 negative regulation of ERK1 and ERK2 cascade GO:0070373 9.43 PTEN SMAD4
9 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.4 BMPR1A SMAD4
10 cellular response to BMP stimulus GO:0071773 9.37 BMPR1A SMAD4
11 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.32 CDKN3 PTEN
12 endoderm development GO:0007492 9.26 BMPR1A SMAD4
13 developmental growth GO:0048589 9.16 BMPR1A SMAD4
14 outflow tract septum morphogenesis GO:0003148 8.96 BMPR1A SMAD4
15 positive regulation of SMAD protein import into nucleus GO:0060391 8.62 BMPR1A SMAD4

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

id Name GO ID Score Top Affiliating Genes
1 protein tyrosine phosphatase activity GO:0004725 9.26 CDKN3 PTEN
2 phosphoprotein phosphatase activity GO:0004721 9.16 CDKN3 PTEN
3 protein serine/threonine phosphatase activity GO:0004722 8.96 CDKN3 PTEN
4 protein tyrosine/serine/threonine phosphatase activity GO:0008138 8.62 CDKN3 PTEN

Sources for Bannayan-Riley-Ruvalcaba Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....