BZS
MCID: BNN001
MIFTS: 63

Bannayan-Riley-Ruvalcaba Syndrome (BZS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Gastrointestinal diseases, Skin diseases, Fetal diseases, Cancer diseases categories
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Summaries for Bannayan-Riley-Ruvalcaba Syndrome

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NIH Rare Diseases:42 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 juvenile polyposis syndrome and peutz-jeghers syndrome, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, hamartoma/tumefaction of the tongue/gingivae/oral mucosa and macules. An important gene associated with Bannayan-Riley-Ruvalcaba Syndrome is PTEN (phosphatase and tensin homolog), and among its related pathways is Inositol phosphate metabolism. The compounds phosphatidylinositol 3-phosphate and cetuximab have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and breast.

Genetics Home Reference:21 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.

Description from OMIM:46 153480

Aliases & Classifications for Bannayan-Riley-Ruvalcaba Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Bannayan-Riley-Ruvalcaba Syndrome, Aliases & Descriptions:

Name: Bannayan-Riley-Ruvalcaba Syndrome 8 9 42 20 22 21 46 10 48 62
Bannayan-Zonana Syndrome 8 42 21 44
Riley-Smith Syndrome 8 42 21
Brrs 42 21 48
Ruvalcaba-Myhre-Smith Syndrome 8 21
Myhre-Riley-Smith Syndrome 21 48
Rmss 42 62
 
Bzs 42 21
Macrocephaly Pseudopapilledema and Multiple Hemangiomas 42
Macrocephaly Multiple Lipomas and Hemangiomata 42
Bannayan-Ruvalcaba-Riley Syndrome 21
Ruvalcaba -Myhre-Smith Syndrome 42
Ruvalcaba-Myhre Syndrome 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
bannayan-riley-ruvalcaba syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:0050657
OMIM46 153480
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C0265326

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:

48 (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 enlarged 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 nipples 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 polyps 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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Drug clinical trials:

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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 Syndrome20 22 PTEN

Anatomical Context for Bannayan-Riley-Ruvalcaba Syndrome

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

32
Skin, Thyroid, Breast, Colon, Kidney, Uterus, Cervix, Tongue, Spinal cord

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

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Publications for Bannayan-Riley-Ruvalcaba Syndrome

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Articles related to Bannayan-Riley-Ruvalcaba Syndrome:

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

64
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:

6
id Gene Name Type Significance SNP ID Assembly Location
1PTENNM_000314.4(PTEN): c.697C> T (p.Arg233Ter)single nucleotide variantPathogenicrs121909219GRCh37Chr 10, 89717672: 89717672
2PTENNM_000314.4(PTEN): c.510T> A (p.Ser170Arg)single nucleotide variantPathogenicrs121909221GRCh37Chr 10, 89711892: 89711892
3PTENNM_000314.4(PTEN): c.388C> T (p.Arg130Ter)single nucleotide variantPathogenicrs121909224GRCh37Chr 10, 89692904: 89692904
4PTENNM_000314.4(PTEN): c.586delC (p.His196Thrfs)deletionPathogenicGRCh37Chr 10, 89711968: 89711968
5PTENNM_000314.4(PTEN): c.534_535delTAinsAT (p.Tyr178Ter)indelPathogenicrs397515374GRCh37Chr 10, 89711916: 89711917
6PTENNM_000314.4(PTEN): c.640C> T (p.Gln214Ter)single nucleotide variantPathogenicrs121909227GRCh37Chr 10, 89717615: 89717615
7PTENNM_000314.4(PTEN): c.766G> T (p.Glu256Ter)single nucleotide variantPathogenicrs121909228GRCh37Chr 10, 89717741: 89717741
8PTENNM_000314.4(PTEN): c.1003C> T (p.Arg335Ter)single nucleotide variantPathogenicrs121909231GRCh37Chr 10, 89720852: 89720852
9PTENPTEN, DELdeletionPathogenic

Expression for genes affiliated with Bannayan-Riley-Ruvalcaba Syndrome

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Expression patterns in normal tissues for genes affiliated with Bannayan-Riley-Ruvalcaba Syndrome

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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Pathways related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis37
inositol pyrophosphates biosynthesis37
D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis37
9.9MINPP1, PTEN

Compounds for genes affiliated with Bannayan-Riley-Ruvalcaba Syndrome

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Compounds related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1phosphatidylinositol 3-phosphate4410.0CDKN3, PTEN
2cetuximab44 50 1112.0PTEN, CDKN3
3bicalutamide44 61 1112.0CDKN3, PTEN
4gsno4410.0CDKN3, PTEN
5erlotinib44 50 1111.9CDKN3, PTEN
6cl 100449.9DUSP13, CDKN3
7calyculin a44 61 1111.8CDKN3, PTEN
8trastuzumab44 50 1111.7CDKN3, PTEN
9erbstatin449.7CDKN3, PTPN3
10p-nitrophenyl phosphate449.7CDKN3, PTPN3
11sodium fluoride449.7CDKN3, PTPN3
12phosphoserine44 2410.7CDKN3, DUSP13
13gefitinib44 50 1111.7CDKN3, PTEN
14sodium orthovanadate44 6110.6PTPN3, CDKN3
15phenylarsine oxide449.6PTPN3, CDKN3
16fluoride449.6CDKN3, PTPN3
17okadaic acid44 6110.4CDKN3, PTEN, PTPN3
18phosphothreonine449.3CDKN3, DUSP13, PTPN3
19wortmannin449.3PTPN3, PTEN, CDKN3
20genistein44 28 61 2 24 1114.2PTPN3, PTEN, CDKN3
21vanadate449.2CDKN3, PTPN3
22inositol449.1PTPN3, PTEN, MINPP1, CDKN3
23phosphoinositide449.1HADHA, PTPN3, PTEN, CDKN3
24alanine449.0CDKN3, PTEN, PTPN3, HADHA
25phosphotyrosine449.0PTPN3, PTEN, DUSP13, CDKN3
26h2o2449.0PTPN3, PTEN, DUSP13, CDKN3
27phosphatidylinositol449.0PTPN3, PTEN, DUSP13, CDKN3
28atp44 2810.0CDKN3, PTEN, PTPN3, HADHA
29cysteine448.9PTPN3, PTEN, DUSP13, CDKN3
30lipid448.8HADHA, PTPN3, PTEN, DUSP13
31aspartate448.7CDKN3, PTEN, PTPN3
32Phosphate248.7PTPN3, PTEN, DUSP13, MINPP1, CDKN3
33calcium44 50 24 1111.4HADHA, PTPN3, PTEN, DUSP13, CDKN3
34Water248.4CDKN3, MINPP1, DUSP13, PTEN, PTPN3, HADHA
35threonine448.3HADHA, PTPN3, PTEN, DUSP13, BMPR1A, CDKN3
36serine448.3HADHA, PTPN3, PTEN, DUSP13, BMPR1A, CDKN3

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

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Cellular components related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic side of plasma membraneGO:0098989.3PTEN, PTPN3
2cytoplasmGO:0057377.3CDKN3, STK11IP, DUSP13, PTEN, PTPN3, TNS1

Biological processes related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of cyclin-dependent protein serine/threonine kinase activityGO:0000799.7CDKN3, PTEN
2inositol phosphate metabolic processGO:0436479.6MINPP1, PTEN
3protein dephosphorylationGO:0064709.0PTPN3, PTEN, DUSP13
4peptidyl-tyrosine dephosphorylationGO:0353359.0CDKN3, PTEN, PTPN3

Molecular functions related to Bannayan-Riley-Ruvalcaba Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine phosphatase activityGO:0047229.7CDKN3, PTEN
2protein tyrosine/serine/threonine phosphatase activityGO:0081388.9CDKN3, DUSP13, PTEN
3protein tyrosine phosphatase activityGO:0047258.5CDKN3, DUSP13, PTEN, PTPN3

Products for genes affiliated with Bannayan-Riley-Ruvalcaba Syndrome

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Sources for Bannayan-Riley-Ruvalcaba Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet