MCID: BNN001
MIFTS: 57

Bannayan-Riley-Ruvalcaba Syndrome

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

Aliases & Classifications for Bannayan-Riley-Ruvalcaba Syndrome

MalaCards integrated aliases for Bannayan-Riley-Ruvalcaba Syndrome:

Name: Bannayan-Riley-Ruvalcaba Syndrome 54 12 50 24 25 56 71 29 13 14 69
Bannayan-Zonana Syndrome 12 50 24 25 71 52
Riley-Smith Syndrome 12 50 24 25 71
Ruvalcaba-Myhre-Smith Syndrome 12 24 25 71
Brrs 50 25 56 71
Bzs 50 25 71
Macrocephaly Multiple Lipomas and Hemangiomata 50 71
Bannayan-Ruvalcaba-Riley Syndrome 25 71
Pten Hamartoma Tumor Syndrome 71 69
Myhre-Riley-Smith Syndrome 25 56
Rmss 50 71
Macrocephaly Pseudopapilledema and Multiple Hemangiomata 71
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 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood
allelic to cowden disease , which has a later age at onset
approximately 60% of brrs patients have pten mutations


HPO:

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


Classifications:



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 pten hamartoma tumor syndrome, and has symptoms including short stature, scoliosis and seizures. An important gene associated with Bannayan-Riley-Ruvalcaba Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are DNA Damage Response (only ATM dependent) and Senescence and Autophagy in Cancer. 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

UniProtKB/Swiss-Prot : 71 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 : 54
Blumenthal and Dennis (2008) provided a detailed review of PTEN-related tumor syndromes. (153480)

Related Diseases for Bannayan-Riley-Ruvalcaba Syndrome

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 via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
high-arched palate
tongue polyps

Neurologic- Central Nervous System:
hypotonia
speech delay
seizures
gross motor delay
mild-to-severe mental retardation
more
Skin Nails & Hair- Skin:
angiokeratoma
acanthosis nigricans
cafe au lait spots
tan macules on glans penis and penile shaft
lipoma
more
Laboratory- Abnormalities:
hypoglycemia

Muscle Soft Tissue:
lipid storage myopathy

Endocrine Features:
hashimoto thyroiditis

Skeletal- Hands:
macrodactyly

Skeletal- Limbs:
joint hyperextensibility

Growth- Weight:
birthweight greater than 4 kg

Abdomen- Gastroin testinal:
ileal hamartomatous polyps
colonic hamartomatous polyps
intussusception
rectal bleeding

Skeletal- Spine:
scoliosis

Head And Neck- Eyes:
strabismus
downslanting palpebral fissures
amblyopia
prominent schwalbe lines
prominent corneal nerves
more
Head And Neck- Head:
frontal bossing
macrocephaly

Chest- Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Genitourinary- External Genitalia Male:
enlarged penis
enlarged testis

Neoplasia:
meningioma
thyroid follicular cell tumor

Chest- Breasts:
supernumerary nipples

Growth- Height:
birth length greater than 97th percentile
normal adult height

Growth- Other:
postnatal growth deceleration


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 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
3 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 micrognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000347
5 frontal bossing 56 32 occasional (7.5%) Occasional (29-5%) HP:0002007
6 short nose 56 32 occasional (7.5%) Occasional (29-5%) HP:0003196
7 anteverted nares 56 32 occasional (7.5%) Occasional (29-5%) HP:0000463
8 narrow palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000189
9 macrocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000256
10 cutis marmorata 56 32 occasional (7.5%) Occasional (29-5%) HP:0000965
11 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
12 hypoglycemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001943
13 myopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0003198
14 long philtrum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000343
15 pectus excavatum 56 32 frequent (33%) Frequent (79-30%) HP:0000767
16 tall stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0000098
17 joint hyperflexibility 56 32 occasional (7.5%) Occasional (29-5%) HP:0005692
18 dolichocephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000268
19 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
20 lymphoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002665
21 capillary hemangiomas 56 32 hallmark (90%) Very frequent (99-80%) HP:0005306
22 delayed skeletal maturation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002750
23 hashimoto thyroiditis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000872
24 telangiectasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001009
25 meningioma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002858
26 aortic dilatation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001724
27 delayed gross motor development 56 32 occasional (7.5%) Occasional (29-5%) HP:0002194
28 wide nose 56 32 occasional (7.5%) Occasional (29-5%) HP:0000445
29 lymphedema 56 32 occasional (7.5%) Occasional (29-5%) HP:0001004
30 arteriovenous malformation 56 32 hallmark (90%) Very frequent (99-80%) HP:0100026
31 intracranial hemorrhage 56 32 occasional (7.5%) Occasional (29-5%) HP:0002170
32 thyroid carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002890
33 broad thumb 56 32 occasional (7.5%) Occasional (29-5%) HP:0011304
34 cachexia 56 32 occasional (7.5%) Occasional (29-5%) HP:0004326
35 macrotia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000400
36 lipoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0012032
37 angina pectoris 56 32 occasional (7.5%) Occasional (29-5%) HP:0001681
38 multiple cafe-au-lait spots 56 32 occasional (7.5%) Occasional (29-5%) HP:0007565
39 irregular hyperpigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0007400
40 neurological speech impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0002167
41 subcutaneous nodule 56 32 frequent (33%) Frequent (79-30%) HP:0001482
42 abdominal wall muscle weakness 56 32 occasional (7.5%) Occasional (29-5%) HP:0009023
43 skeletal muscle atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0003202
44 nevus 56 32 hallmark (90%) Very frequent (99-80%) HP:0003764
45 visceral angiomatosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0100761
46 subcutaneous hemorrhage 56 32 frequent (33%) Frequent (79-30%) HP:0001933
47 neoplasm of the adrenal cortex 56 32 occasional (7.5%) Occasional (29-5%) HP:0100641
48 intestinal polyposis 56 32 hallmark (90%) Very frequent (99-80%) HP:0200008
49 hamartomatous polyposis 56 32 hallmark (90%) Very frequent (99-80%) HP:0004390
50 neoplasm of the breast 56 32 hallmark (90%) Very frequent (99-80%) HP:0100013

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 PTEN BMPR1A CDKN3
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 BMPR1A SMAD4 TNS1

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 BMPR1A HADHA PTEN SMAD4 TNS1
2 muscle MP:0005369 9.26 HADHA PTEN SMAD4 BMPR1A
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, Colon, Skeletal Muscle, Testis, Tongue

Publications for Bannayan-Riley-Ruvalcaba Syndrome

Articles related to Bannayan-Riley-Ruvalcaba Syndrome:

(show top 50) (show all 51)
id Title Authors Year
1
Say What? Bannayan-Riley-Ruvalcaba Syndrome Presenting with Gastrointestinal Bleeding Due to Hamartoma-Induced Intussusception. ( 28168574 )
2017
2
Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report. ( 28401059 )
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
Thyroid involvement in two patients with bannayan-riley-ruvalcaba syndrome. ( 24379037 )
2013
8
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report. ( 24474112 )
2013
9
Bannayan-Riley-Ruvalcaba Syndrome (BRRS): An Uncommon Case of Haematochezia in a 3-year-old-boy. ( 23783019 )
2013
10
Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome. ( 23662932 )
2013
11
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients. ( 23907246 )
2013
12
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. ( 22327138 )
2012
13
Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. ( 22911484 )
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
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. ( 21659347 )
2011
16
Recurrent and extensive vascular malformations in a patient with Bannayan--Riley--Ruvalcaba syndrome. ( 21856113 )
2011
17
Bannayan Riley Ruvalcaba syndrome. ( 20697678 )
2010
18
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. ( 19321504 )
2009
19
Treatment of intractable abdominal pain patient with Bannayan-Riley-Ruvalcaba syndrome using spinal cord stimulation. ( 19813502 )
2009
20
Anesthetic management of a child with Bannayan-Riley-Ruvalcaba syndrome. ( 18499642 )
2008
21
Testicular hamartomas in a patient with Bannayan-Riley-Ruvalcaba syndrome. ( 18645085 )
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
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. ( 17033968 )
2006
26
Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. ( 17032868 )
2006
27
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. ( 16894538 )
2006
28
Bannayan-riley-ruvalcaba syndrome from the point of view of the pediatric surgeon. ( 16909363 )
2006
29
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. ( 16773562 )
2006
30
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. ( 16952599 )
2006
31
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. ( 16198785 )
2005
32
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
33
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. ( 14574156 )
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
Bannayan-Riley-Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps. ( 10679034 )
2000
39
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
40
An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. ( 10640930 )
2000
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
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. ( 10400993 )
1999
43
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
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
Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. ( 9352843 )
1997
47
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. ( 9286463 )
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:

71
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 top 50) (show all 74)
id Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.386G> A (p.Gly129Glu) single nucleotide variant Pathogenic rs121909218 GRCh37 Chromosome 10, 89692902: 89692902
2 PTEN NM_000314.6(PTEN): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh37 Chromosome 10, 89717672: 89717672
3 PTEN NM_000314.6(PTEN): c.510T> A (p.Ser170Arg) single nucleotide variant Pathogenic rs121909221 GRCh37 Chromosome 10, 89711892: 89711892
4 PTEN NM_000314.6(PTEN): c.347_351delACAAT (p.Asp116Alafs) deletion Pathogenic rs587776666 GRCh37 Chromosome 10, 89692863: 89692867
5 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909224 GRCh37 Chromosome 10, 89692904: 89692904
6 PTEN NM_000314.6(PTEN): c.586delC (p.His196Thrfs) deletion Pathogenic rs587776670 GRCh37 Chromosome 10, 89711968: 89711968
7 PTEN NM_000314.6(PTEN): c.534_535delTAinsAT (p.Tyr178Ter) indel Pathogenic rs397515374 GRCh37 Chromosome 10, 89711916: 89711917
8 PTEN NM_000314.6(PTEN): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs121909227 GRCh37 Chromosome 10, 89717615: 89717615
9 PTEN NM_000314.6(PTEN): c.766G> T (p.Glu256Ter) single nucleotide variant Pathogenic rs121909228 GRCh37 Chromosome 10, 89717741: 89717741
10 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909229 GRCh37 Chromosome 10, 89692905: 89692905
11 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909231 GRCh37 Chromosome 10, 89720852: 89720852
12 PTEN NM_000314.6(PTEN): c.507delC (p.Ser170Valfs) deletion Pathogenic rs587776673 GRCh37 Chromosome 10, 89711889: 89711889
13 PTEN PTEN, DEL deletion Pathogenic
14 PTEN NM_000314.6(PTEN): c.395G> T (p.Gly132Val) single nucleotide variant Pathogenic/Likely pathogenic rs121909241 GRCh37 Chromosome 10, 89692911: 89692911
15 PTEN NM_000314.6(PTEN): c.955_958delACTT (p.Thr319Terfs) deletion Pathogenic rs146650273 GRCh37 Chromosome 10, 89720804: 89720807
16 PTEN NM_000314.6(PTEN): c.800delA (p.Lys267Argfs) deletion Pathogenic rs121913289 GRCh37 Chromosome 10, 89717775: 89717775
17 PTEN NM_000314.6(PTEN): c.338G> T (p.Ser113Ile) single nucleotide variant Pathogenic rs587781254 GRCh37 Chromosome 10, 89692854: 89692854
18 PTEN NM_000314.6(PTEN): c.379G> A (p.Gly127Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587781255 GRCh37 Chromosome 10, 89692895: 89692895
19 PTEN NM_000314.6(PTEN): c.48T> A (p.Tyr16Ter) single nucleotide variant Pathogenic rs587782187 GRCh37 Chromosome 10, 89624274: 89624274
20 PTEN NM_000314.6(PTEN): c.781C> T (p.Gln261Ter) single nucleotide variant Pathogenic rs730882131 GRCh38 Chromosome 10, 87957999: 87957999
21 PTEN NM_000314.6(PTEN): c.406T> C (p.Cys136Arg) single nucleotide variant Pathogenic rs786201044 GRCh37 Chromosome 10, 89692922: 89692922
22 PTEN NM_000314.6(PTEN): c.733C> T (p.Gln245Ter) single nucleotide variant Pathogenic rs786202918 GRCh37 Chromosome 10, 89717708: 89717708
23 PTEN NM_000314.6(PTEN): c.49C> T (p.Gln17Ter) single nucleotide variant Pathogenic rs786204910 GRCh37 Chromosome 10, 89624275: 89624275
24 PTEN NM_000314.6(PTEN): c.182A> G (p.His61Arg) single nucleotide variant Pathogenic/Likely pathogenic rs398123316 GRCh37 Chromosome 10, 89685287: 89685287
25 PTEN NM_000314.6(PTEN): c.284C> T (p.Pro95Leu) single nucleotide variant Pathogenic rs786204856 GRCh38 Chromosome 10, 87933043: 87933043
26 PTEN NM_000314.6(PTEN): c.491delA (p.Lys164Argfs) deletion Pathogenic rs786204900 GRCh37 Chromosome 10, 89693007: 89693007
27 PTEN NM_000314.6(PTEN): c.511C> T (p.Gln171Ter) single nucleotide variant Pathogenic rs786204864 GRCh37 Chromosome 10, 89711893: 89711893
28 PTEN NM_000314.6(PTEN): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913293 GRCh37 Chromosome 10, 89711899: 89711899
29 PTEN NM_000314.6(PTEN): c.71A> G (p.Asp24Gly) single nucleotide variant Pathogenic rs797044910 GRCh37 Chromosome 10, 89624297: 89624297
30 PTEN NM_000314.6(PTEN): c.437T> G (p.Leu146Ter) single nucleotide variant Pathogenic rs786204933 GRCh38 Chromosome 10, 87933196: 87933196
31 PTEN NM_000314.6(PTEN): c.860C> G (p.Ser287Ter) single nucleotide variant Likely pathogenic rs863224909 GRCh38 Chromosome 10, 87960952: 87960952
32 PTEN NM_000314.6(PTEN): c.845delG (p.Gly282Aspfs) deletion Pathogenic rs864622451 GRCh37 Chromosome 10, 89720694: 89720694
33 PTEN NM_000314.6(PTEN): c.987_996dupTAAAGACAAA (p.Ala333Terfs) duplication Pathogenic rs864622387 GRCh37 Chromosome 10, 89720836: 89720845
34 PTEN NM_000314.6(PTEN): c.545dupT (p.Leu182Phefs) duplication Pathogenic rs878853941 GRCh37 Chromosome 10, 89711927: 89711927
35 PTEN NM_000314.6(PTEN): c.53delA (p.Glu18Glyfs) deletion Pathogenic rs878853940 GRCh38 Chromosome 10, 87864522: 87864522
36 PTEN NM_000314.6(PTEN): c.132dupC (p.Val45Argfs) duplication Pathogenic rs878853933 GRCh38 Chromosome 10, 87894077: 87894077
37 PTEN NM_000314.6(PTEN): c.195C> G (p.Tyr65Ter) single nucleotide variant Pathogenic rs878853936 GRCh37 Chromosome 10, 89685300: 89685300
38 PTEN NM_000314.6(PTEN): c.757_758dupAT (p.Lys254Serfs) duplication Pathogenic rs878853942 GRCh38 Chromosome 10, 87957975: 87957976
39 PTEN NM_000314.6(PTEN): c.877G> T (p.Gly293Ter) single nucleotide variant Pathogenic rs878853944 GRCh38 Chromosome 10, 87960969: 87960969
40 PTEN NM_000314.6(PTEN): c.80-?_492+?del deletion Pathogenic
41 PTEN NM_000314.6(PTEN): c.320A> T (p.Asp107Val) single nucleotide variant Pathogenic rs786204858 GRCh37 Chromosome 10, 89692836: 89692836
42 PTEN NM_000314.6(PTEN): c.518G> A (p.Arg173His) single nucleotide variant Pathogenic/Likely pathogenic rs121913294 GRCh37 Chromosome 10, 89711900: 89711900
43 PTEN NM_000314.6(PTEN): c.445C> T (p.Gln149Ter) single nucleotide variant Pathogenic rs1060500122 GRCh38 Chromosome 10, 87933204: 87933204
44 PTEN NC_000010.11: g.(?_87894025)_(87894109_?)del deletion Pathogenic GRCh38 Chromosome 10, 87894025: 87894109
45 PTEN NM_000314.6(PTEN): c.945T> G (p.Tyr315Ter) single nucleotide variant Pathogenic rs876661058 GRCh38 Chromosome 10, 87961037: 87961037
46 PTEN NM_000314.6(PTEN): c.200dupT (p.Tyr68Ilefs) duplication Pathogenic GRCh38 Chromosome 10, 87925548: 87925548
47 PTEN NM_000314.6(PTEN): c.723dupT (p.Glu242Terfs) duplication Pathogenic GRCh38 Chromosome 10, 87957941: 87957941
48 PTEN NM_000314.6(PTEN): c.176C> G (p.Ser59Ter) single nucleotide variant Pathogenic rs1060500116 GRCh38 Chromosome 10, 87925524: 87925524
49 PTEN NM_000314.6(PTEN): c.346_358dupGACAATCATGTTG (p.Ala120Glyfs) duplication Pathogenic GRCh38 Chromosome 10, 87933105: 87933117
50 PTEN NM_000314.6(PTEN): c.675T> G (p.Tyr225Ter) single nucleotide variant Pathogenic rs1057520900 GRCh37 Chromosome 10, 89717650: 89717650

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 negative regulation of ERK1 and ERK2 cascade GO:0070373 9.46 PTEN SMAD4
8 embryonic digit morphogenesis GO:0042733 9.43 BMPR1A 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
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36 IUPHAR
37 KEGG
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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