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 53 12 49 24 55 71 28 13 14 69
Bannayan-Zonana Syndrome 53 12 49 24 71 51
Riley-Smith Syndrome 53 12 49 24 71
Brrs 53 49 24 55 71
Ruvalcaba-Myhre-Smith Syndrome 53 12 24 71
Bzs 53 49 24 71
Rmss 53 49 71
Macrocephaly Multiple Lipomas and Hemangiomata 49 71
Bannayan-Ruvalcaba-Riley Syndrome 24 71
Pten Hamartoma Tumor Syndrome 71 69
Myhre-Riley-Smith Syndrome 24 55
Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata 53
Macrocephaly Pseudopapilledema and Multiple Hemangiomata 71
Macrocephaly Pseudopapilledema and Multiple Hemangiomas 49
Macrocephaly, Multiple Lipomas, and Hemangiomata 53
Ruvalcaba-Myhre-Smith Syndrome; Rmss 53
Ruvalcaba -Myhre-Smith Syndrome 49
Bannayan-Zonana Syndrome; Bzs 53
Ruvalcaba-Myhre Syndrome 24
Phts 71

Characteristics:

Orphanet epidemiological data:

55
bannayan-riley-ruvalcaba syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

53
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:

31
bannayan-riley-ruvalcaba syndrome:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Bannayan-Riley-Ruvalcaba Syndrome

NIH Rare Diseases : 49 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. Last updated: 3/18/2013

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 cachexia, seizures and angina pectoris. An important gene associated with Bannayan-Riley-Ruvalcaba Syndrome is PTEN (Phosphatase And Tensin Homolog). 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 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)

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

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.

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:

53
Neurologic Central Nervous System:
seizures
hypotonia
gross motor delay
speech delay
mild-to-severe mental retardation
more
Chest RibsSternum Clavicles And Scapulae:
pectus excavatum

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 Gastroin testinal:
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

Head And Neck Head:
macrocephaly
frontal bossing

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:

55 31 (show top 50) (show all 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cachexia 55 31 occasional (7.5%) Occasional (29-5%) HP:0004326
2 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
3 angina pectoris 55 31 occasional (7.5%) Occasional (29-5%) HP:0001681
4 macrocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000256
5 pectus excavatum 55 31 frequent (33%) Frequent (79-30%) HP:0000767
6 frontal bossing 55 31 occasional (7.5%) Occasional (29-5%) HP:0002007
7 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
8 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
9 neurological speech impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0002167
10 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
11 narrow palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000189
12 macrotia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000400
13 delayed skeletal maturation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002750
14 short nose 55 31 occasional (7.5%) Occasional (29-5%) HP:0003196
15 anteverted nares 55 31 occasional (7.5%) Occasional (29-5%) HP:0000463
16 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
17 broad thumb 55 31 occasional (7.5%) Occasional (29-5%) HP:0011304
18 myopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003198
19 subcutaneous nodule 55 31 frequent (33%) Frequent (79-30%) HP:0001482
20 abdominal wall muscle weakness 55 31 occasional (7.5%) Occasional (29-5%) HP:0009023
21 hypoglycemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001943
22 skeletal muscle atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003202
23 long philtrum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000343
24 micrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000347
25 joint hyperflexibility 55 31 occasional (7.5%) Occasional (29-5%) HP:0005692
26 dolichocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000268
27 lymphedema 55 31 occasional (7.5%) Occasional (29-5%) HP:0001004
28 arteriovenous malformation 55 31 hallmark (90%) Very frequent (99-80%) HP:0100026
29 hashimoto thyroiditis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000872
30 nevus 55 31 hallmark (90%) Very frequent (99-80%) HP:0003764
31 capillary hemangiomas 55 31 hallmark (90%) Very frequent (99-80%) HP:0005306
32 visceral angiomatosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100761
33 multiple cafe-au-lait spots 55 31 occasional (7.5%) Occasional (29-5%) HP:0007565
34 irregular hyperpigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007400
35 intracranial hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0002170
36 lymphoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002665
37 subcutaneous hemorrhage 55 31 frequent (33%) Frequent (79-30%) HP:0001933
38 neoplasm of the adrenal cortex 55 31 occasional (7.5%) Occasional (29-5%) HP:0100641
39 meningioma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002858
40 intestinal polyposis 55 31 hallmark (90%) Very frequent (99-80%) HP:0200008
41 hamartomatous polyposis 55 31 hallmark (90%) Very frequent (99-80%) HP:0004390
42 lipoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0012032
43 wide nose 55 31 occasional (7.5%) Occasional (29-5%) HP:0000445
44 tall stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0000098
45 neoplasm of the breast 55 31 hallmark (90%) Very frequent (99-80%) HP:0100013
46 cutis marmorata 55 31 occasional (7.5%) Occasional (29-5%) HP:0000965
47 delayed gross motor development 55 31 occasional (7.5%) Occasional (29-5%) HP:0002194
48 thyroid carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002890
49 uterine neoplasm 55 31 occasional (7.5%) Occasional (29-5%) HP:0010784
50 abnormality of the optic nerve 55 31 occasional (7.5%) Occasional (29-5%) HP:0000587

UMLS symptoms related to Bannayan-Riley-Ruvalcaba Syndrome:


seizures

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

25
# 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 28 PTEN

Anatomical Context for Bannayan-Riley-Ruvalcaba Syndrome

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

38
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 54)
# Title Authors Year
1
Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome. ( 29444762 )
2018
2
Say What? Bannayan-Riley-Ruvalcaba Syndrome Presenting with Gastrointestinal Bleeding Due to Hamartoma-Induced Intussusception. ( 28168574 )
2017
3
Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report. ( 28401059 )
2017
4
Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. ( 29168369 )
2017
5
Germline<i>TTN</i>variants are enriched in<i>PTEN</i>-wildtype Bannayan-Riley-Ruvalcaba syndrome. ( 29263846 )
2017
6
Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome. ( 27535890 )
2016
7
Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome. ( 27358095 )
2016
8
A case of Bannayan-Riley-Ruvalcaba syndrome. A new clinical finding and brief review. ( 26228616 )
2015
9
Torsion of a giant mesocolic lipoma in a child with Bannayan-Riley-Ruvalcaba syndrome. ( 25008800 )
2014
10
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients. ( 23907246 )
2013
11
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report. ( 24474112 )
2013
12
Bannayan-Riley-Ruvalcaba Syndrome (BRRS): An Uncommon Case of Haematochezia in a 3-year-old-boy. ( 23783019 )
2013
13
Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome. ( 23662932 )
2013
14
Thyroid involvement in two patients with bannayan-riley-ruvalcaba syndrome. ( 24379037 )
2013
15
Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. ( 22911484 )
2012
16
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
17
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. ( 22327138 )
2012
18
Recurrent and extensive vascular malformations in a patient with Bannayan--Riley--Ruvalcaba syndrome. ( 21856113 )
2011
19
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. ( 21659347 )
2011
20
Bannayan Riley Ruvalcaba syndrome. ( 20697678 )
2010
21
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. ( 19321504 )
2009
22
Treatment of intractable abdominal pain patient with Bannayan-Riley-Ruvalcaba syndrome using spinal cord stimulation. ( 19813502 )
2009
23
Anesthetic management of a child with Bannayan-Riley-Ruvalcaba syndrome. ( 18499642 )
2008
24
Testicular hamartomas in a patient with Bannayan-Riley-Ruvalcaba syndrome. ( 18645085 )
2008
25
Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. ( 18080326 )
2008
26
Airway obstruction caused by PTEN hamartoma (Bannayan-Riley-Ruvalcaba) syndrome. ( 18025323 )
2007
27
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
28
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. ( 17033968 )
2006
29
Bannayan-riley-ruvalcaba syndrome from the point of view of the pediatric surgeon. ( 16909363 )
2006
30
Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. ( 17032868 )
2006
31
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. ( 16773562 )
2006
32
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. ( 16894538 )
2006
33
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. ( 16952599 )
2006
34
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. ( 16198785 )
2005
35
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. ( 14574156 )
2003
36
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
37
Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. ( 12372056 )
2002
38
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. ( 11536076 )
2001
39
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. ( 11332402 )
2001
40
Bannayan-Riley-Ruvalcaba syndrome: report of a family. ( 12117207 )
2001
41
Bannayan-Riley-Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps. ( 10679034 )
2000
42
An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. ( 10640930 )
2000
43
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
44
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. ( 10400993 )
1999
45
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
46
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
47
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. ( 9661881 )
1998
48
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. ( 9856571 )
1998
49
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. ( 9286463 )
1997
50
Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. ( 9352843 )
1997

Variations for Bannayan-Riley-Ruvalcaba Syndrome

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

71
# 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 106)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909229 GRCh38 Chromosome 10, 87933148: 87933148
2 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909231 GRCh37 Chromosome 10, 89720852: 89720852
3 PTEN NM_000314.6(PTEN): c.701G> A (p.Arg234Gln) single nucleotide variant risk factor rs121909235 GRCh37 Chromosome 10, 89717676: 89717676
4 PTEN NM_000314.6(PTEN): c.507delC (p.Ser170Valfs) deletion Pathogenic rs587776673 GRCh37 Chromosome 10, 89711889: 89711889
5 PTEN PTEN, DEL deletion Pathogenic
6 PTEN NM_000314.6(PTEN): c.395G> T (p.Gly132Val) single nucleotide variant Pathogenic/Likely pathogenic rs121909241 GRCh37 Chromosome 10, 89692911: 89692911
7 PTEN NM_000314.6(PTEN): c.955_958delACTT (p.Thr319Terfs) deletion Pathogenic rs146650273 GRCh37 Chromosome 10, 89720804: 89720807
8 PTEN NM_000314.6(PTEN): c.800delA (p.Lys267Argfs) deletion Pathogenic rs121913289 GRCh37 Chromosome 10, 89717775: 89717775
9 PTEN NM_000314.6(PTEN): c.338G> T (p.Ser113Ile) single nucleotide variant Pathogenic rs587781254 GRCh37 Chromosome 10, 89692854: 89692854
10 PTEN NM_000314.6(PTEN): c.379G> A (p.Gly127Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587781255 GRCh37 Chromosome 10, 89692895: 89692895
11 PTEN NM_000314.6(PTEN): c.48T> A (p.Tyr16Ter) single nucleotide variant Pathogenic rs587782187 GRCh37 Chromosome 10, 89624274: 89624274
12 PTEN NM_000314.6(PTEN): c.741dup (p.Pro248Thrfs) duplication Pathogenic rs587782341 GRCh37 Chromosome 10, 89717716: 89717716
13 PTEN NM_000314.6(PTEN): c.781C> T (p.Gln261Ter) single nucleotide variant Pathogenic rs730882131 GRCh38 Chromosome 10, 87957999: 87957999
14 PTEN NM_000314.6(PTEN): c.406T> C (p.Cys136Arg) single nucleotide variant Pathogenic rs786201044 GRCh37 Chromosome 10, 89692922: 89692922
15 PTEN NM_000314.6(PTEN): c.733C> T (p.Gln245Ter) single nucleotide variant Pathogenic rs786202918 GRCh37 Chromosome 10, 89717708: 89717708
16 PTEN NM_000314.6(PTEN): c.49C> T (p.Gln17Ter) single nucleotide variant Pathogenic rs786204910 GRCh37 Chromosome 10, 89624275: 89624275
17 PTEN NM_000314.6(PTEN): c.182A> G (p.His61Arg) single nucleotide variant Pathogenic/Likely pathogenic rs398123316 GRCh37 Chromosome 10, 89685287: 89685287
18 PTEN NM_000314.6(PTEN): c.202T> C (p.Tyr68His) single nucleotide variant Pathogenic/Likely pathogenic rs398123317 GRCh37 Chromosome 10, 89685307: 89685307
19 PTEN NM_000314.6(PTEN): c.284C> T (p.Pro95Leu) single nucleotide variant Pathogenic rs786204856 GRCh38 Chromosome 10, 87933043: 87933043
20 PTEN NM_000314.6(PTEN): c.367C> T (p.His123Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs786204931 GRCh37 Chromosome 10, 89692883: 89692883
21 PTEN NM_000314.6(PTEN): c.407G> A (p.Cys136Tyr) single nucleotide variant Pathogenic rs786204859 GRCh37 Chromosome 10, 89692923: 89692923
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.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913293 GRCh37 Chromosome 10, 89711899: 89711899
25 PTEN NM_000314.6(PTEN): c.758_761delTCAA (p.Ile253Lysfs) deletion Pathogenic rs786204903 GRCh37 Chromosome 10, 89717733: 89717736
26 PTEN NM_000314.6(PTEN): c.802-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587782455 GRCh38 Chromosome 10, 87960892: 87960892
27 PTEN NM_000314.6(PTEN): c.386G> A (p.Gly129Glu) single nucleotide variant Pathogenic rs121909218 GRCh37 Chromosome 10, 89692902: 89692902
28 PTEN NM_000314.6(PTEN): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh37 Chromosome 10, 89717672: 89717672
29 PTEN NM_000314.6(PTEN): c.510T> A (p.Ser170Arg) single nucleotide variant Pathogenic rs121909221 GRCh37 Chromosome 10, 89711892: 89711892
30 PTEN NM_000314.6(PTEN): c.347_351delACAAT (p.Asp116Alafs) deletion Pathogenic rs587776666 GRCh37 Chromosome 10, 89692863: 89692867
31 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909224 GRCh37 Chromosome 10, 89692904: 89692904
32 PTEN NM_000314.6(PTEN): c.253+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776667 GRCh37 Chromosome 10, 89690847: 89690847
33 PTEN NM_000314.6(PTEN): c.586delC (p.His196Thrfs) deletion Pathogenic rs587776670 GRCh37 Chromosome 10, 89711968: 89711968
34 PTEN NM_000314.6(PTEN): c.534_535delTAinsAT (p.Tyr178Ter) indel Pathogenic rs397515374 GRCh37 Chromosome 10, 89711916: 89711917
35 PTEN NM_000314.6(PTEN): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs121909227 GRCh37 Chromosome 10, 89717615: 89717615
36 PTEN NM_000314.6(PTEN): c.766G> T (p.Glu256Ter) single nucleotide variant Pathogenic rs121909228 GRCh37 Chromosome 10, 89717741: 89717741
37 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909229 GRCh37 Chromosome 10, 89692905: 89692905
38 PTEN NM_000314.6(PTEN): c.71A> G (p.Asp24Gly) single nucleotide variant Pathogenic rs797044910 GRCh37 Chromosome 10, 89624297: 89624297
39 PTEN NM_000314.6(PTEN): c.437T> G (p.Leu146Ter) single nucleotide variant Pathogenic rs786204933 GRCh38 Chromosome 10, 87933196: 87933196
40 PTEN NM_000314.6(PTEN): c.860C> G (p.Ser287Ter) single nucleotide variant Likely pathogenic rs863224909 GRCh38 Chromosome 10, 87960952: 87960952
41 PTEN NM_000314.6(PTEN): c.845delG (p.Gly282Aspfs) deletion Pathogenic rs864622451 GRCh37 Chromosome 10, 89720694: 89720694
42 PTEN NM_000314.6(PTEN): c.987_996dup (p.Ala333Terfs) duplication Pathogenic rs864622387 GRCh37 Chromosome 10, 89720836: 89720845
43 PTEN NM_000314.6(PTEN): c.253+1dup duplication Pathogenic/Likely pathogenic rs876660082 GRCh37 Chromosome 10, 89690847: 89690847
44 PTEN NM_000314.6(PTEN): c.53delA (p.Glu18Glyfs) deletion Pathogenic rs878853940 GRCh38 Chromosome 10, 87864522: 87864522
45 PTEN NM_000314.6(PTEN): c.132dupC (p.Val45Argfs) duplication Pathogenic rs878853933 GRCh38 Chromosome 10, 87894077: 87894077
46 PTEN NM_000314.6(PTEN): c.195C> G (p.Tyr65Ter) single nucleotide variant Pathogenic rs878853936 GRCh37 Chromosome 10, 89685300: 89685300
47 PTEN NM_000314.6(PTEN): c.545dupT (p.Leu182Phefs) duplication Pathogenic rs878853941 GRCh38 Chromosome 10, 87952170: 87952170
48 PTEN NM_000314.6(PTEN): c.757_758dupAT (p.Lys254Serfs) duplication Pathogenic rs878853942 GRCh38 Chromosome 10, 87957975: 87957976
49 PTEN NM_000314.6(PTEN): c.877G> T (p.Gly293Ter) single nucleotide variant Pathogenic rs878853944 GRCh38 Chromosome 10, 87960969: 87960969
50 PTEN NM_000314.6(PTEN): c.80-?_492+?del deletion Pathogenic

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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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