MCID: BNN001
MIFTS: 53

Bannayan-Riley-Ruvalcaba Syndrome malady

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

Aliases & Classifications for Bannayan-Riley-Ruvalcaba Syndrome

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Aliases & Descriptions for Bannayan-Riley-Ruvalcaba Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
bannayan-riley-ruvalcaba syndrome:
Onset and clinical course: juvenile onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 153480
Disease Ontology10 DOID:0050657
Orphanet51 109
ICD10 via Orphanet28 Q87.8
UMLS via Orphanet66 C0265326
MedGen34 C0265326
MeSH36 D006223
UMLS65 C0265326, C1959582

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 cowden disease, and has symptoms including intestinal polyposis, visceral angiomatosis and arteriovenous malformation. An important gene associated with Bannayan-Riley-Ruvalcaba Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways are Inositol phosphate metabolism (REACTOME) and Androgen receptor signaling pathway. Affiliated tissues include skin, thyroid and breast, and related mouse phenotypes are embryo and muscle.

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

UMLS symptoms related to Bannayan-Riley-Ruvalcaba Syndrome:


seizures

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 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, Heart, Tongue, Cervix, Uterus

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:00053808.4BMPR1A, HADHA, PTEN, SMAD4
2MP:00053698.2BMPR1A, HADHA, PTEN, SMAD4

Publications for Bannayan-Riley-Ruvalcaba Syndrome

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Articles related to Bannayan-Riley-Ruvalcaba Syndrome:

(show all 48)
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
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
38
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
39
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. (10400993)
1999
40
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. (9661881)
1998
41
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (9856571)
1998
42
Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. (9352843)
1997
43
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. (9286463)
1997
44
Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. (8859033)
1996
45
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome. (7977472)
1994
46
Bannayan-Riley-Ruvalcaba syndrome. (1336932)
1992
47
Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity. (2309773)
1990
48

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 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1PTENNM_000314.6(PTEN): c.338G> T (p.Ser113Ile)single nucleotide variantPathogenicrs587781254GRCh37Chr 10, 89692854: 89692854
2PTENNM_000314.6(PTEN): c.379G> A (p.Gly127Arg)single nucleotide variantPathogenicrs587781255GRCh37Chr 10, 89692895: 89692895
3PTENNM_000314.6(PTEN): c.781C> T (p.Gln261Ter)single nucleotide variantPathogenicrs730882131GRCh38Chr 10, 87957999: 87957999
4PTENNM_000314.6(PTEN): c.49C> T (p.Gln17Ter)single nucleotide variantPathogenicrs786204910GRCh37Chr 10, 89624275: 89624275
5PTENNM_000314.6(PTEN): c.437T> G (p.Leu146Ter)single nucleotide variantPathogenicrs786204933GRCh38Chr 10, 87933196: 87933196
6PTENNM_000314.6(PTEN): c.860C> G (p.Ser287Ter)single nucleotide variantLikely pathogenicrs863224909GRCh37Chr 10, 89720709: 89720709
7PTENNM_000314.6(PTEN): c.987_996dupTAAAGACAAA (p.Ala333Terfs)duplicationPathogenicrs864622387GRCh38Chr 10, 87961079: 87961088
8PTENNM_000314.6(PTEN): c.845delG (p.Gly282Aspfs)deletionPathogenicrs864622451GRCh38Chr 10, 87960937: 87960937
9PTENNM_000314.6(PTEN): c.697C> T (p.Arg233Ter)single nucleotide variantPathogenicrs121909219GRCh37Chr 10, 89717672: 89717672
10PTENNM_000314.6(PTEN): c.510T> A (p.Ser170Arg)single nucleotide variantPathogenicrs121909221GRCh37Chr 10, 89711892: 89711892
11PTENNM_000314.6(PTEN): c.388C> T (p.Arg130Ter)single nucleotide variantPathogenicrs121909224GRCh37Chr 10, 89692904: 89692904
12PTENNM_000314.6(PTEN): c.586delC (p.His196Thrfs)deletionPathogenicrs587776670GRCh37Chr 10, 89711968: 89711968
13PTENNM_000314.6(PTEN): c.534_535delTAinsAT (p.Tyr178Ter)indelPathogenicrs397515374GRCh37Chr 10, 89711916: 89711917
14PTENNM_000314.6(PTEN): c.640C> T (p.Gln214Ter)single nucleotide variantPathogenicrs121909227GRCh37Chr 10, 89717615: 89717615
15PTENNM_000314.6(PTEN): c.766G> T (p.Glu256Ter)single nucleotide variantPathogenicrs121909228GRCh37Chr 10, 89717741: 89717741
16PTENNM_000314.6(PTEN): c.389G> A (p.Arg130Gln)single nucleotide variantPathogenicrs121909229GRCh37Chr 10, 89692905: 89692905
17PTENNM_000314.6(PTEN): c.1003C> T (p.Arg335Ter)single nucleotide variantPathogenicrs121909231GRCh37Chr 10, 89720852: 89720852
18PTENNM_000314.6(PTEN): c.507delC (p.Ser170Valfs)deletionPathogenicrs587776673GRCh37Chr 10, 89711889: 89711889
19PTENPTEN, DELdeletionPathogenic
20PTENNM_000314.6(PTEN): c.395G> T (p.Gly132Val)single nucleotide variantPathogenicrs121909241GRCh37Chr 10, 89692911: 89692911

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:

idNameGO IDScoreTop Affiliating Genes
1protein dephosphorylationGO:00064709.6CDKN3, PTEN
2embryonic digit morphogenesisGO:00427339.3BMPR1A, SMAD4
3peptidyl-tyrosine dephosphorylationGO:00353359.3CDKN3, PTEN
4BMP signaling pathwayGO:00305099.3BMPR1A, SMAD4
5cellular response to BMP stimulusGO:00717739.3BMPR1A, SMAD4
6palate developmentGO:00600219.1BMPR1A, SMAD4

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

idNameGO IDScoreTop Affiliating Genes
1phosphatase activityGO:00167919.5CDKN3, MINPP1

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