MCID: BNN001
MIFTS: 57

Bannayan-Riley-Ruvalcaba Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Gastrointestinal diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Aliases & Classifications for Bannayan-Riley-Ruvalcaba Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 65UMLS, 67UniProtKB/Swiss-Prot, 47Novoseek, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Bannayan-Riley-Ruvalcaba Syndrome:

Name: Bannayan-Riley-Ruvalcaba Syndrome 49 10 11 45 22 23 12 51 65 67
Bannayan-Zonana Syndrome 10 45 22 23 47 67
Riley-Smith Syndrome 10 45 22 23 67
Brrs 45 22 23 51 67
Macrocephaly Multiple Lipomas and Hemangiomata 45 22 67
Bannayan-Ruvalcaba-Riley Syndrome 23 24 67
Ruvalcaba-Myhre-Smith Syndrome 10 23 67
Bzs 45 23 67
 
Ruvalcaba -Myhre-Smith Syndrome 45 22
Myhre-Riley-Smith Syndrome 23 51
Rmss 45 67
Macrocephaly Pseudopapilledema and Multiple Hemangiomata 67
Macrocephaly Pseudopapilledema and Multiple Hemangiomas 45
Pten Hamartoma Tumor Syndrome 67
Ruvalcaba-Myhre Syndrome 23
Phts 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
bannayan-riley-ruvalcaba syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 153480
Disease Ontology10 DOID:0050657
Orphanet51 109
ICD10 via Orphanet28 Q87.8
UMLS via Orphanet66 C0265326
MedGen34 C0265326
MeSH36 D006223

Summaries for Bannayan-Riley-Ruvalcaba Syndrome

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NIH Rare Diseases:45 Bannayan-riley-ruvalcaba syndrome (brrs) is one of the pten hamartoma tumor syndromes (phts), a spectrum of disorders caused by mutations in a gene called pten. brrs is a disorder present from birth that is characterized by macrocephaly (larger than normal sized head), intestinal polyposis (multiple benign polyps in the intestines), lipomas (tumors below the skin made up of fatty tissue), and pigmented skin lesion (macule) in the area of the penis called the glans penis. the symptoms of brrs vary from person to person. treatment is based on the symptoms present; however, because of the increased risk of developing cancer in people with the phts, increased cancer surveillance is recommended. last updated: 3/18/2013

MalaCards based summary: Bannayan-Riley-Ruvalcaba Syndrome, also known as bannayan-zonana syndrome, is related to ruvalcaba syndrome and lipoma, and has symptoms including abnormality of the penis, macrocephaly and multiple lipomas. An important gene associated with Bannayan-Riley-Ruvalcaba Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways are and Androgen receptor signaling pathway. Affiliated tissues include skin, thyroid and breast, and related mouse phenotypes are muscle and embryogenesis.

Genetics Home Reference:23 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:49 Blumenthal and Dennis (2008) provided a detailed review of PTEN-related tumor syndromes. (153480) more...

UniProtKB/Swiss-Prot:67 Bannayan-Riley-Ruvalcaba syndrome: A rare hamartomatous disorder characterized by macrocephaly and multiple hemangiomas as well as subcutaneous and visceral lipomas. It belongs to the family of hamartomatous polyposis syndromes that includes Peutz Jeghers syndrome, juvenile polyposis, and Cowden syndrome.

Related Diseases for Bannayan-Riley-Ruvalcaba Syndrome

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Graphical network of the top 20 diseases related to Bannayan-Riley-Ruvalcaba Syndrome:



Diseases related to bannayan-riley-ruvalcaba syndrome

Symptoms for Bannayan-Riley-Ruvalcaba Syndrome

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Symptoms by clinical synopsis from OMIM:

153480

Clinical features from OMIM:

153480

Symptoms:

 51 (show all 66)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • hamartoma/tumefaction of the tongue/gingivae/oral mucosa
  • macules
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • cavernous/tuberous hemangioma
  • xanthomas/lipomas
  • polyposis of the bowel/colon/intestine
  • visceral angiomatosis (excluding skin)
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • penis anomalies
  • hypotonia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • neoplasms/tumors
  • autosomal dominant inheritance
  • pectus excavatum
  • scoliosis
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hyperextensible joints/articular hyperlaxity
  • breast neoplasm/tumor/carcinoma/cancer
  • uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer
  • generalized obesity
  • dolichocephaly/scaphocephaly
  • frontal bossing/prominent forehead
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • micrognathia/retrognathia/micrognathism/retrognathism
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • strabismus/squint
  • broad nose/nasal bridge
  • short/small nose
  • anteverted nares/nostrils
  • long philtrum
  • high vaulted/narrow palate
  • long/large ear
  • metacarpal anomalies/archibald's sign
  • broad/bifid thumb
  • cutis marmorata/marbled skin/livedo
  • acanthosis nigricans
  • cafe-au-lait spot
  • telangiectasiae of the skin
  • acute abdominal pain/colic
  • intestinal obstruction/ileus
  • aortic dilatation/dilation
  • angor pectoris/myocardial infarction
  • lymphedema
  • thyroiditis
  • hypoglycemia
  • motor deficit/trouble
  • seizures/epilepsy/absences/spasms/status epilepticus
  • autism/autistic disoders
  • myopathy
  • muscle weakness/flaccidity
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • intracranial/cerebral/meningeal hemorrhage
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • thyroid neoplasm/tumor/carcinoma/cancer
  • cortical adrenal neoplasm/tumor/carcinoma/cancer
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • meningioma
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • tall stature/gigantism/growth acceleration
  • short stature/dwarfism/nanism
  • early death/lethality

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

(show all 94)
id Description Frequency HPO Source Accession
1 abnormality of the penis hallmark (90%) HP:0000036
2 macrocephaly hallmark (90%) HP:0000256
3 multiple lipomas hallmark (90%) HP:0001012
4 hypermelanotic macule hallmark (90%) HP:0001034
5 cavernous hemangioma hallmark (90%) HP:0001048
6 muscular hypotonia hallmark (90%) HP:0001252
7 neurological speech impairment hallmark (90%) HP:0002167
8 arteriovenous malformation hallmark (90%) HP:0100026
9 visceral angiomatosis hallmark (90%) HP:0100761
10 intestinal polyposis hallmark (90%) HP:0200008
11 pectus excavatum typical (50%) HP:0000767
12 joint hypermobility typical (50%) HP:0001382
13 obesity typical (50%) HP:0001513
14 gastrointestinal hemorrhage typical (50%) HP:0002239
15 scoliosis typical (50%) HP:0002650
16 uterine neoplasm typical (50%) HP:0010784
17 neoplasm of the breast typical (50%) HP:0100013
18 cognitive impairment typical (50%) HP:0100543
19 tall stature occasional (7.5%) HP:0000098
20 abnormality of the palate occasional (7.5%) HP:0000174
21 dolichocephaly occasional (7.5%) HP:0000268
22 long philtrum occasional (7.5%) HP:0000343
23 micrognathia occasional (7.5%) HP:0000347
24 macrotia occasional (7.5%) HP:0000400
25 anteverted nares occasional (7.5%) HP:0000463
26 strabismus occasional (7.5%) HP:0000486
27 downslanted palpebral fissures occasional (7.5%) HP:0000494
28 visual impairment occasional (7.5%) HP:0000505
29 optic atrophy occasional (7.5%) HP:0000648
30 autism occasional (7.5%) HP:0000717
31 acanthosis nigricans occasional (7.5%) HP:0000956
32 cafe-au-lait spot occasional (7.5%) HP:0000957
33 cutis marmorata occasional (7.5%) HP:0000965
34 lymphedema occasional (7.5%) HP:0001004
35 abnormality of the metacarpal bones occasional (7.5%) HP:0001163
36 seizures occasional (7.5%) HP:0001250
37 muscle weakness occasional (7.5%) HP:0001324
38 coronary artery disease occasional (7.5%) HP:0001677
39 aortic dilatation occasional (7.5%) HP:0001724
40 abnormality of coagulation occasional (7.5%) HP:0001928
41 hypoglycemia occasional (7.5%) HP:0001943
42 frontal bossing occasional (7.5%) HP:0002007
43 abdominal pain occasional (7.5%) HP:0002027
44 intracranial hemorrhage occasional (7.5%) HP:0002170
45 skeletal dysplasia occasional (7.5%) HP:0002652
46 meningioma occasional (7.5%) HP:0002858
47 short nose occasional (7.5%) HP:0003196
48 myopathy occasional (7.5%) HP:0003198
49 short stature occasional (7.5%) HP:0004322
50 decreased body weight occasional (7.5%) HP:0004325
51 intestinal obstruction occasional (7.5%) HP:0005214
52 abnormality of thumb phalanx occasional (7.5%) HP:0009602
53 renal neoplasm occasional (7.5%) HP:0009726
54 neoplasm of the thyroid gland occasional (7.5%) HP:0100031
55 teleangiectasia of the skin occasional (7.5%) HP:0100585
56 neoplasm of the adrenal cortex occasional (7.5%) HP:0100641
57 thyroiditis occasional (7.5%) HP:0100646
58 autosomal dominant inheritance HP:0000006
59 long penis HP:0000040
60 high palate HP:0000218
61 macrocephaly HP:0000256
62 strabismus HP:0000486
63 downslanted palpebral fissures HP:0000494
64 pseudopapilledema HP:0000538
65 amblyopia HP:0000646
66 delayed speech and language development HP:0000750
67 pectus excavatum HP:0000767
68 hashimoto thyroiditis HP:0000872
69 acanthosis nigricans HP:0000956
70 cafe-au-lait spot HP:0000957
71 multiple lipomas HP:0001012
72 angiokeratoma HP:0001014
73 hemangioma HP:0001028
74 intellectual disability HP:0001249
75 seizures HP:0001250
76 muscular hypotonia HP:0001252
77 joint hypermobility HP:0001382
78 hypoglycemia HP:0001943
79 frontal bossing HP:0002007
80 delayed gross motor development HP:0002194
81 supernumerary nipple HP:0002558
82 hematochezia HP:0002573
83 intussusception HP:0002576
84 scoliosis HP:0002650
85 meningioma HP:0002858
86 myopathy HP:0003198
87 birth length greater than 97th percentile HP:0003517
88 juvenile onset HP:0003621
89 macrodactyly HP:0004099
90 hamartomatous polyposis HP:0004390
91 thick corpus callosum HP:0007074
92 abnormally prominent line of schwalbe HP:0007873
93 postnatal growth retardation HP:0008897
94 lipoma HP:0012032

Drugs & Therapeutics for Bannayan-Riley-Ruvalcaba Syndrome

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Interventional clinical trials:

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

Genetic Tests for Bannayan-Riley-Ruvalcaba Syndrome

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Genetic tests related to Bannayan-Riley-Ruvalcaba Syndrome:

id Genetic test Affiliating Genes
1 Bannayan-Riley-Ruvalcaba Syndrome22 24 PTEN

Anatomical Context for Bannayan-Riley-Ruvalcaba Syndrome

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

33
Skin, Thyroid, Breast, Cortex, Cervix, Tongue, Adrenal cortex

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.1BMPR1A, HADHA, PTEN, SMAD4
2MP:00053807.9BMPR1A, HADHA, PTEN, SMAD4

Publications for Bannayan-Riley-Ruvalcaba Syndrome

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Articles related to Bannayan-Riley-Ruvalcaba Syndrome:

(show all 46)
idTitleAuthorsYear
1
A case of Bannayan-Riley-Ruvalcaba syndrome. A new clinical finding and brief review. (26228616)
2015
2
Torsion of a giant mesocolic lipoma in a child with Bannayan-Riley-Ruvalcaba syndrome. (25008800)
2014
3
Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome. (23662932)
2013
4
Bannayan-Riley-Ruvalcaba Syndrome (BRRS): An Uncommon Case of Haematochezia in a 3-year-old-boy. (23783019)
2013
5
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients. (23907246)
2013
6
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report. (24474112)
2013
7
Thyroid involvement in two patients with bannayan-riley-ruvalcaba syndrome. (24379037)
2013
8
Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. (22911484)
2012
9
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. (22327138)
2012
10
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
11
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. (21659347)
2011
12
Recurrent and extensive vascular malformations in a patient with Bannayan--Riley--Ruvalcaba syndrome. (21856113)
2011
13
Bannayan Riley Ruvalcaba syndrome. (20697678)
2010
14
Treatment of intractable abdominal pain patient with Bannayan-Riley-Ruvalcaba syndrome using spinal cord stimulation. (19813502)
2009
15
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. (19321504)
2009
16
Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. (18080326)
2008
17
Testicular hamartomas in a patient with Bannayan-Riley-Ruvalcaba syndrome. (18645085)
2008
18
Anesthetic management of a child with Bannayan-Riley-Ruvalcaba syndrome. (18499642)
2008
19
Airway obstruction caused by PTEN hamartoma (Bannayan-Riley-Ruvalcaba) syndrome. (18025323)
2007
20
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
21
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. (17033968)
2006
22
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. (16952599)
2006
23
Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. (17032868)
2006
24
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. (16894538)
2006
25
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (16773562)
2006
26
Bannayan-riley-ruvalcaba syndrome from the point of view of the pediatric surgeon. (16909363)
2006
27
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. (16198785)
2005
28
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. (14574156)
2003
29
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
30
Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. (12372056)
2002
31
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. (11332402)
2001
32
Bannayan-Riley-Ruvalcaba syndrome: report of a family. (12117207)
2001
33
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. (11536076)
2001
34
Bannayan-Riley-Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps. (10679034)
2000
35
An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. (10640930)
2000
36
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
37
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
38
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. (10400993)
1999
39
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. (9661881)
1998
40
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (9856571)
1998
41
Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. (9352843)
1997
42
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. (9286463)
1997
43
Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. (8859033)
1996
44
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome. (7977472)
1994
45
Bannayan-Riley-Ruvalcaba syndrome. (1336932)
1992
46
Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity. (2309773)
1990

Variations for Bannayan-Riley-Ruvalcaba Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1PTENp.Tyr68HisVAR_007462
2PTENp.Ser170ArgVAR_007470
3PTENp.Ala34AspVAR_008734
4PTENp.Cys105TyrVAR_008735
5PTENp.Ile135ValVAR_008736
6PTENp.Pro246LeuVAR_008740
7PTENp.Cys105PheVAR_026256
8PTENp.Asp107TyrVAR_026257

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1PTENNM_000314.6(PTEN): c.860C> G (p.Ser287Ter)single nucleotide variantLikely pathogenicGRCh37Chr 10, 89720709: 89720709
2PTENNM_000314.6(PTEN): c.697C> T (p.Arg233Ter)single nucleotide variantPathogenicrs121909219GRCh37Chr 10, 89717672: 89717672
3PTENNM_000314.6(PTEN): c.510T> A (p.Ser170Arg)single nucleotide variantPathogenicrs121909221GRCh37Chr 10, 89711892: 89711892
4PTENNM_000314.6(PTEN): c.388C> T (p.Arg130Ter)single nucleotide variantPathogenicrs121909224GRCh37Chr 10, 89692904: 89692904
5PTENNM_000314.6(PTEN): c.586delC (p.His196Thrfs)deletionPathogenicrs587776670GRCh37Chr 10, 89711968: 89711968
6PTENNM_000314.6(PTEN): c.534_535delTAinsAT (p.Tyr178Ter)indelPathogenicrs397515374GRCh37Chr 10, 89711916: 89711917
7PTENNM_000314.6(PTEN): c.640C> T (p.Gln214Ter)single nucleotide variantPathogenicrs121909227GRCh37Chr 10, 89717615: 89717615
8PTENNM_000314.6(PTEN): c.766G> T (p.Glu256Ter)single nucleotide variantPathogenicrs121909228GRCh37Chr 10, 89717741: 89717741
9PTENNM_000314.6(PTEN): c.1003C> T (p.Arg335Ter)single nucleotide variantPathogenicrs121909231GRCh37Chr 10, 89720852: 89720852
10PTENPTEN, DELdeletionPathogenic

Expression for genes affiliated with Bannayan-Riley-Ruvalcaba Syndrome

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

Pathways for genes affiliated with Bannayan-Riley-Ruvalcaba Syndrome

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GO Terms for genes affiliated with Bannayan-Riley-Ruvalcaba Syndrome

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1inositol phosphate metabolic processGO:004364710.1MINPP1, PTEN
2regulation of cyclin-dependent protein serine/threonine kinase activityGO:00000799.9CDKN3, PTEN
3endoderm developmentGO:00074929.6BMPR1A, SMAD4
4positive regulation of SMAD protein import into nucleusGO:00603919.6BMPR1A, SMAD4
5positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.5BMPR1A, SMAD4
6embryonic digit morphogenesisGO:00427339.5BMPR1A, SMAD4
7developmental growthGO:00485899.5BMPR1A, SMAD4
8anterior/posterior pattern specificationGO:00099529.5BMPR1A, SMAD4
9peptidyl-tyrosine dephosphorylationGO:00353359.4CDKN3, PTEN
10BMP signaling pathwayGO:00305099.4BMPR1A, SMAD4
11negative regulation of cell proliferationGO:00082859.1CDKN3, PTEN, SMAD4
12protein dephosphorylationGO:00064709.1CDKN3, MINPP1, PTEN
13cellular response to BMP stimulusGO:00717739.0BMPR1A, SMAD4
14dephosphorylationGO:00163119.0CDKN3, MINPP1, PTEN
15palate developmentGO:00600218.7BMPR1A, SMAD4

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

idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine phosphatase activityGO:00047229.9CDKN3, PTEN
2phosphoprotein phosphatase activityGO:00047219.8CDKN3, PTEN
3protein tyrosine phosphatase activityGO:00047259.4CDKN3, PTEN
4protein tyrosine/serine/threonine phosphatase activityGO:00081389.2CDKN3, PTEN
5phosphatase activityGO:00167919.0CDKN3, MINPP1, PTEN

Sources for Bannayan-Riley-Ruvalcaba Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet