MCID: BNN001
MIFTS: 50

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 57 12 53 25 59 75 29 13 6 15 40 73
Bannayan-Zonana Syndrome 57 12 53 25 75 55
Riley-Smith Syndrome 57 12 53 25 75
Brrs 57 53 25 59 75
Ruvalcaba-Myhre-Smith Syndrome 57 12 25 75
Bzs 57 53 25 75
Rmss 57 53 75
Macrocephaly Multiple Lipomas and Hemangiomata 53 75
Bannayan-Ruvalcaba-Riley Syndrome 25 75
Pten Hamartoma Tumor Syndrome 75 73
Myhre-Riley-Smith Syndrome 25 59
Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata 57
Macrocephaly Pseudopapilledema and Multiple Hemangiomata 75
Macrocephaly Pseudopapilledema and Multiple Hemangiomas 53
Macrocephaly, Multiple Lipomas, and Hemangiomata 57
Ruvalcaba-Myhre-Smith Syndrome; Rmss 57
Ruvalcaba -Myhre-Smith Syndrome 53
Bannayan-Zonana Syndrome; Bzs 57
Ruvalcaba-Myhre Syndrome 25
Phts 75

Characteristics:

Orphanet epidemiological data:

59
bannayan-riley-ruvalcaba syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
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:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Bannayan-Riley-Ruvalcaba Syndrome

NIH Rare Diseases : 53 Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the PTEN hamartoma tumor syndromes (PHTS). This is a group of disorders caused by mutations in a gene called PTEN. BRRS is present from birth includes large head size, benign polyps in the intestines, benign tumors below the skin called lipomas, and pigmented skin spots on the penis. Treatment is based on the symptoms present. Because of the increased risk of developing cancer in people with the PHTS, cancer surveillance is recommended.

MalaCards based summary : Bannayan-Riley-Ruvalcaba Syndrome, also known as bannayan-zonana syndrome, is related to ruvalcaba syndrome and proteus syndrome, and has symptoms including seizures An important gene associated with Bannayan-Riley-Ruvalcaba Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways is Integrated Breast Cancer Pathway. Affiliated tissues include skin, thyroid and breast, and related phenotypes are macrocephaly and pectus excavatum

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

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare overgrowth syndrome and hamartomatous disorder with... more...

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:

57
Head And Neck Head:
macrocephaly
frontal bossing

Neurologic Central Nervous System:
seizures
hypotonia
gross motor delay
speech delay
mild-to-severe mental retardation
more
Laboratory Abnormalities:
hypoglycemia

Head And Neck Eyes:
strabismus
amblyopia
pseudopapilledema
downslanting palpebral fissures
prominent schwalbe lines
more
Neoplasia:
meningioma
thyroid follicular cell tumor

Head And Neck Mouth:
high-arched palate
tongue polyps

Abdomen Gastrointestinal:
intussusception
ileal hamartomatous polyps
colonic hamartomatous polyps
rectal bleeding

Genitourinary External Genitalia Male:
enlarged penis
enlarged testis

Growth Weight:
birthweight greater than 4 kg

Muscle Soft Tissue:
lipid storage myopathy

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal Spine:
scoliosis

Skin Nails Hair Skin:
acanthosis nigricans
angiokeratoma
lipoma
cafe au lait spots
tan macules on glans penis and penile shaft
more
Endocrine Features:
hashimoto thyroiditis

Skeletal Hands:
macrodactyly

Chest Breasts:
supernumerary nipples

Skeletal Limbs:
joint hyperextensibility

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:

59 32 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
3 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
4 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
5 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
7 neurological speech impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002167
8 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
9 narrow palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000189
10 macrotia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000400
11 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
12 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
13 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
14 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
15 broad thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0011304
16 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
17 subcutaneous nodule 59 32 frequent (33%) Frequent (79-30%) HP:0001482
18 abdominal wall muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0009023
19 hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001943
20 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
21 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
22 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
23 angina pectoris 59 32 occasional (7.5%) Occasional (29-5%) HP:0001681
24 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
25 dolichocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000268
26 lymphedema 59 32 occasional (7.5%) Occasional (29-5%) HP:0001004
27 arteriovenous malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100026
28 hashimoto thyroiditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000872
29 nevus 59 32 hallmark (90%) Very frequent (99-80%) HP:0003764
30 cachexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004326
31 visceral angiomatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100761
32 multiple cafe-au-lait spots 59 32 occasional (7.5%) Occasional (29-5%) HP:0007565
33 irregular hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007400
34 intracranial hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002170
35 lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002665
36 subcutaneous hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0001933
37 neoplasm of the adrenal cortex 59 32 occasional (7.5%) Occasional (29-5%) HP:0100641
38 meningioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002858
39 intestinal polyposis 59 32 hallmark (90%) Very frequent (99-80%) HP:0200008
40 hamartomatous polyposis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004390
41 lipoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0012032
42 wide nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000445
43 tall stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0000098
44 neoplasm of the breast 59 32 hallmark (90%) Very frequent (99-80%) HP:0100013
45 cutis marmorata 59 32 occasional (7.5%) Occasional (29-5%) HP:0000965
46 delayed gross motor development 59 32 occasional (7.5%) Occasional (29-5%) HP:0002194
47 thyroid carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002890
48 uterine neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0010784
49 abnormality of the optic nerve 59 32 occasional (7.5%) Occasional (29-5%) HP:0000587
50 telangiectasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001009

UMLS symptoms related to Bannayan-Riley-Ruvalcaba Syndrome:


seizures

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

26
# 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 9.33 BMPR1A CDKN3 PTEN
2 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.13 BMPR1A CDKN3 PTEN
3 Increased mitotic index GR00110-A-0 8.62 BMPR1A 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:

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

Anatomical Context for Bannayan-Riley-Ruvalcaba Syndrome

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

41
Skin, Thyroid, Breast, Colon, Tongue, Skeletal Muscle, Testis

Publications for Bannayan-Riley-Ruvalcaba Syndrome

Articles related to Bannayan-Riley-Ruvalcaba Syndrome:

(show top 50) (show all 57)
# Title Authors Year
1
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations. ( 29684080 )
2018
2
Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome. ( 29444762 )
2018
3
Lichen planus hypertrophicus-inversus occurring in a patient with Bannayan-Riley-Ruvalcaba syndrome. ( 29512180 )
2018
4
Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report. ( 28401059 )
2017
5
Germline<i>TTN</i>variants are enriched in<i>PTEN</i>-wildtype Bannayan-Riley-Ruvalcaba syndrome. ( 29263846 )
2017
6
Say What? Bannayan-Riley-Ruvalcaba Syndrome Presenting with Gastrointestinal Bleeding Due to Hamartoma-Induced Intussusception. ( 28168574 )
2017
7
Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. ( 29168369 )
2017
8
Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome. ( 27358095 )
2016
9
Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome. ( 27535890 )
2016
10
A case of Bannayan-Riley-Ruvalcaba syndrome. A new clinical finding and brief review. ( 26228616 )
2015
11
Torsion of a giant mesocolic lipoma in a child with Bannayan-Riley-Ruvalcaba syndrome. ( 25008800 )
2014
12
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report. ( 24474112 )
2013
13
Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome. ( 23662932 )
2013
14
Bannayan-Riley-Ruvalcaba Syndrome (BRRS): An Uncommon Case of Haematochezia in a 3-year-old-boy. ( 23783019 )
2013
15
Thyroid involvement in two patients with bannayan-riley-ruvalcaba syndrome. ( 24379037 )
2013
16
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients. ( 23907246 )
2013
17
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
18
[Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis in a two-year-old girl]. ( 22673385 )
2012
19
Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. ( 22911484 )
2012
20
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. ( 22327138 )
2012
21
Recurrent and extensive vascular malformations in a patient with Bannayan--Riley--Ruvalcaba syndrome. ( 21856113 )
2011
22
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. ( 21659347 )
2011
23
Bannayan Riley Ruvalcaba syndrome. ( 20697678 )
2010
24
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. ( 19321504 )
2009
25
Treatment of intractable abdominal pain patient with Bannayan-Riley-Ruvalcaba syndrome using spinal cord stimulation. ( 19813502 )
2009
26
Anesthetic management of a child with Bannayan-Riley-Ruvalcaba syndrome. ( 18499642 )
2008
27
Testicular hamartomas in a patient with Bannayan-Riley-Ruvalcaba syndrome. ( 18645085 )
2008
28
Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. ( 18080326 )
2008
29
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
30
Airway obstruction caused by PTEN hamartoma (Bannayan-Riley-Ruvalcaba) syndrome. ( 18025323 )
2007
31
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. ( 16773562 )
2006
32
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. ( 16952599 )
2006
33
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. ( 16894538 )
2006
34
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. ( 17033968 )
2006
35
Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. ( 17032868 )
2006
36
Bannayan-riley-ruvalcaba syndrome from the point of view of the pediatric surgeon. ( 16909363 )
2006
37
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. ( 16198785 )
2005
38
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
39
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. ( 14574156 )
2003
40
Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. ( 12372056 )
2002
41
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. ( 11536076 )
2001
42
Bannayan-Riley-Ruvalcaba syndrome: report of a family. ( 12117207 )
2001
43
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. ( 11332402 )
2001
44
An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. ( 10640930 )
2000
45
Bannayan-Riley-Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps. ( 10679034 )
2000
46
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
47
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
48
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. ( 10400993 )
1999
49
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
50
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. ( 9856571 )
1998

Variations for Bannayan-Riley-Ruvalcaba Syndrome

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

75
# 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 21)
# 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.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh38 Chromosome 10, 87957915: 87957915
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.510T> A (p.Ser170Arg) single nucleotide variant Pathogenic rs121909221 GRCh38 Chromosome 10, 87952135: 87952135
5 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic rs121909224 GRCh37 Chromosome 10, 89692904: 89692904
6 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic rs121909224 GRCh38 Chromosome 10, 87933147: 87933147
7 PTEN NM_000314.6(PTEN): c.586delC (p.His196Thrfs) deletion Pathogenic rs587776670 GRCh37 Chromosome 10, 89711968: 89711968
8 PTEN NM_000314.6(PTEN): c.586delC (p.His196Thrfs) deletion Pathogenic rs587776670 GRCh38 Chromosome 10, 87952211: 87952211
9 PTEN NM_000314.6(PTEN): c.534_535delTAinsAT (p.Tyr178Ter) indel Pathogenic rs397515374 GRCh37 Chromosome 10, 89711916: 89711917
10 PTEN NM_000314.6(PTEN): c.534_535delTAinsAT (p.Tyr178Ter) indel Pathogenic rs397515374 GRCh38 Chromosome 10, 87952159: 87952160
11 PTEN NM_000314.6(PTEN): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs121909227 GRCh37 Chromosome 10, 89717615: 89717615
12 PTEN NM_000314.6(PTEN): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs121909227 GRCh38 Chromosome 10, 87957858: 87957858
13 PTEN NM_000314.6(PTEN): c.766G> T (p.Glu256Ter) single nucleotide variant Pathogenic rs121909228 GRCh37 Chromosome 10, 89717741: 89717741
14 PTEN NM_000314.6(PTEN): c.766G> T (p.Glu256Ter) single nucleotide variant Pathogenic rs121909228 GRCh38 Chromosome 10, 87957984: 87957984
15 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs121909231 GRCh37 Chromosome 10, 89720852: 89720852
16 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs121909231 GRCh38 Chromosome 10, 87961095: 87961095
17 PTEN PTEN, DEL deletion Pathogenic
18 PTEN NM_000314.6(PTEN): c.511C> T (p.Gln171Ter) single nucleotide variant Pathogenic rs786204864 GRCh37 Chromosome 10, 89711893: 89711893
19 PTEN NM_000314.6(PTEN): c.511C> T (p.Gln171Ter) single nucleotide variant Pathogenic rs786204864 GRCh38 Chromosome 10, 87952136: 87952136
20 PTEN NM_000314.6(PTEN): c.860C> G (p.Ser287Ter) single nucleotide variant Likely pathogenic rs863224909 GRCh38 Chromosome 10, 87960952: 87960952
21 PTEN NM_000314.6(PTEN): c.860C> G (p.Ser287Ter) single nucleotide variant Likely pathogenic rs863224909 GRCh37 Chromosome 10, 89720709: 89720709

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

7
# 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

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

# Super pathways Score Top Affiliating Genes
1 10.81 BMPR1A PTEN

GO Terms for Bannayan-Riley-Ruvalcaba Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 peptidyl-tyrosine dephosphorylation GO:0035335 8.96 CDKN3 PTEN
2 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 8.62 CDKN3 PTEN

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

# Name GO ID Score Top Affiliating Genes
1 phosphoprotein phosphatase activity GO:0004721 9.26 CDKN3 PTEN
2 protein tyrosine phosphatase activity GO:0004725 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
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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