Bannayan-riley-ruvalcaba Syndrome malady

NIH Rare Diseases: 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 recommended³⁰

MalaCards: Bannayan-riley-ruvalcaba Syndrome, also known as bannayan-zonana syndrome, is related to ruvalcaba syndrome and juvenile polyposis syndrome. An important gene associated with Bannayan-riley-ruvalcaba Syndrome is STK11IP (serine/threonine kinase 11 interacting protein), and among its related pathways is Signaling by BMP. The compounds erbstatin and cl 100 have been mentioned in the context of this disorder. Affiliated tissues include breast and skin, and related mouse phenotypes are renal/urinary system and normal.

Genetics Home Reference: 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.¹⁷

OMIM: 153480

Aliases & Descriptions:

bannayan-riley-ruvalcaba syndrome 6 7 30 16 17 8 33 43 bannayan-zonana syndrome 6 7 30 16 17 32 riley-smith syndrome 6 30 16 17 brrs 30 16 17 macrocephaly multiple lipomas and hemangiomata 30 16 ruvalcaba -myhre-smith syndrome 30 16 ruvalcaba-myhre-smith syndrome 6 17 bzs 30 17

macrocephaly pseudopapilledema and multiple hemangiomas 30 bannayan-ruvalcaba-riley syndrome 17 hamartoma syndrome, multiple 17 myhre-riley-smith syndrome 17 ruvalcaba-myhre syndrome 17 ruvalcaba syndrome 43 hamartoma 43 rmss 30

Diseases related to bannayan-riley-ruvalcaba syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 115)

id	Related Disease	Score	Top Affiliating Genes
1	ruvalcaba syndrome	33.8	HADHA, STK11IP, PTPN3, PTEN, DUSP13, CDKN3
2	juvenile polyposis syndrome	32.4	BMPR1A, SMAD4
3	carney complex	30.8	STK11, LYPD1, PTEN
4	cowden disease	30.1	BMPR1A, MINPP1, TNS1, PTEN, STK11, LYPD1
5	polyposis	29.5	SMAD4, PTEN, DUSP13, CDKN3, BMPR1A, STK11
6	tuberous sclerosis	29.0	CDKN3, PTEN, STK11
7	proteus syndrome	28.6	CDKN3, PTEN, LYPD1
8	peutz-jeghers syndrome	28.1	BMPR1A, SMAD4, STK11IP, PTEN, STK11, CDKN3
9	breast cancer	27.5	BMPR1A, CDKN3, DUSP13, TEP1, PTPN3, SMAD4
10	hemangioma	26.8	STK11, PTEN, CDKN3
11	adenoma	26.4	STK11, PTEN, SMAD4, PTPN3, TEP1, BMPR1A
12	leiomyoma	25.3	CDKN3, PTEN, SMAD4, DUSP13
13	carcinoma	25.1	HADHA, PTPN3, BMPR1A, STK11, STK11IP, CDKN3
14	adenocarcinoma	25.1	CDKN3, TEP1, SMAD4, PTPN3, PTEN, BMPR1A
15	cholangiocarcinoma	24.7	CDKN3, TEP1, PTEN, SMAD4, LYPD1
16	thyroiditis	22.6	SMAD4, PTPN3, PTEN, TEP1, CDKN3, MINPP1
17	pancreatitis	22.2	DUSP13, TEP1, PTEN, PTPN3, SMAD4, STK11
18	acinar cell carcinoma	12.8	SMAD4, STK11
19	acute fatty liver of pregnancy	12.7	CDKN3, HADHA
20	lafora disease	12.7	CDKN3, DUSP13
21	familial pancreatic cancer	12.7	STK11, SMAD4
22	benign tumors	12.6	PTEN, TEP1, STK11
23	progressive myoclonus epilepsy	12.5	CDKN3, DUSP13
24	mayer-rokitansky-kuster-hauser syndrome	12.5	PTPN3, PTEN, STK11
25	thyroid cancer, follicular	12.5	MINPP1, CDKN3, PTEN
26	cystic teratoma	12.4	PTEN, CDKN3
27	bilateral breast cancer	12.3	CDKN3, PTEN
28	ovarian clear cell adenocarcinoma	12.3	SMAD4, PTEN
29	juvenile myelomonocytic leukemia	12.3	CDKN3, PTPN3, PTEN
30	pituitary adenoma	12.3	BMPR1A, PTPN3, PTEN, TEP1
31	hemangioma of lung	12.3	STK11, PTEN, CDKN3
32	sclerosing hemangioma	12.3	PTEN, CDKN3, STK11
33	gliosarcoma	12.2	CDKN3, PTEN
34	lung cancer susceptibility	12.2	STK11, PTEN, TEP1, HADHA
35	familial adenomatous polyposis	12.1	BMPR1A, PTEN, STK11, SMAD4
36	kidney cancer	12.1	CDKN3, PTEN, TNS1
37	endometrial carcinoma	11.8	SMAD4, PTEN, DUSP13, CDKN3
38	gastric adenocarcinoma	11.7	SMAD4, PTPN3, PTEN, CDKN3
39	germ cell tumor	11.7	PTEN, SMAD4, STK11, CDKN3
40	boomerang dysplasia	11.6	CDKN3, SMAD4, TEP1, STK11
41	thyroid carcinoma	11.6	CDKN3, TEP1, STK11, PTEN
42	pancreatic carcinoma	11.6	TEP1, SMAD4, STK11, CDKN3
43	cervical carcinoma	11.6	PTEN, SMAD4, STK11, CDKN3
44	liver cancer	11.5	PTEN, CDKN3, SMAD4, TNS1
45	esophageal cancer	11.5	PTEN, CDKN3, SMAD4, PTPN3
46	malignant glioma	11.5	SMAD4, TEP1, BMPR1A, PTEN, CDKN3
47	galactosemia	11.4	HADHA, BMPR1A, CDKN3, PTEN, SMAD4
48	endometrial cancer	11.2	TEP1, BMPR1A, DUSP13, PTEN, SMAD4, CDKN3
49	hypoxia	11.0	PTPN3, SMAD4, PTEN, CDKN3, DUSP13, TEP1
50	lung carcinoma	11.0	CDKN3, PTEN, PTPN3, SMAD4, STK11, STK11IP

Clinical features from OMIM: 153480

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to bannayan-riley-ruvalcaba syndrome:

²²

MGI Mouse Phenotypes related to bannayan-riley-ruvalcaba syndrome:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	renal/urinary system phenotype	MP:0005367	8.0	TNS1, PTEN, SMAD4, STK11, HADHA
2	normal phenotype	MP:0002873	7.0	BMPR1A, STK11, SMAD4, PTPN3, PTEN, TEP1

Articles related to bannayan-riley-ruvalcaba syndrome:

(show all 15)

id	Title	Authors	Year	Affiliating Genes
1	Predicting PTEN mutations: an evaluation of Cowden sy ndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. (21659347)	Pilarski R.... Prior T.W.	2011	PTEN
2	Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. (19321504)	Lynch N.E.... Webb D.	2009	PTEN
3	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)	Lachlan K.L.... Temple I.K.	2007	PTEN
4	Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. (17033968)	Pezzolesi M.G.... Eng C.	2006	PTEN, CDKN3
5	Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. (16952599)	Buisson P.... Heloury Y.	2006	PTEN
6	Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (16773562)	Sarquis M.S.... Eng C.	2006	PTEN
7	Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. (14574156)	Hendriks Y.M.... Brocker-Vriends A.H.	2003	PTEN
8	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)	Zhou X.P.... Eng C.	2003	PTEN
9	Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. (12372056)	Figer A.... Friedman E.	2002	PTEN
10	Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. (11536076)	Zhou X.-P.... Eng C.	2001	BMPR1A
11	PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. (10400993)	Marsh D.J.... Eng C.	1999	PTEN, DUSP13
12	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)	Otto L.R.... Bennett M.J.	1999	HADHA
13	Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (9856571)	Zori R.T.... Eng C.	1998	PTEN
14	Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. (9661881)	Carethers J.M.... Boland C.R.	1998	PTEN, PTPN3
15	Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. (9286463)	Arch E.M.... Geraghty M.T.	1997	PTEN

Genes related to bannayan-riley-ruvalcaba syndrome according to GeneCards:

(show all 13)

id	Symbol	Description	Score	GeneCards Section Context
1	STK11IP	serine/threonine kinase 11 interacting protein	11.1
2	LYPD1	LY6/PLAUR domain containing 1	11.1
3	DUSP13	dual specificity phosphatase 13	11.1	Publications
4	MINPP1	multiple inositol-polyphosphate phosphatase 1	11.1
5	PTEN	phosphatase and tensin homolog	11.1	Publications
6	HADHA	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	11.1	Publications
7	TEP1	telomerase-associated protein 1	11.1
8	STK11	serine/threonine kinase 11	11.1
9	PTPN3	protein tyrosine phosphatase, non-receptor type 3	11.1	Publications
10	BMPR1A	bone morphogenetic protein receptor, type IA	11.1	Publications
11	TNS1	tensin 1	11.1
12	SMAD4	SMAD family member 4	11.1
13	CDKN3	cyclin-dependent kinase inhibitor 3	11.1	Publications

Pathways related to bannayan-riley-ruvalcaba syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Signaling by BMP38	9.1	BMPR1A, SMAD4

Compounds related to bannayan-riley-ruvalcaba syndrome according to GeneDecks:

(show all 15)

id	Compound	Score	Top Affiliating Genes
1	erbstatin32	9.7	CDKN3, PTPN3
2	cl 10032	9.7	CDKN3, DUSP13
3	p-nitrophenyl phosphate32	9.6	PTPN3, CDKN3
4	sodium fluoride32	9.6	PTPN3, CDKN3
5	phosphothreonine32	9.5	CDKN3, DUSP13, PTPN3
6	phosphatidylinositol 3-phosphate32	9.3	CDKN3, PTEN
7	inositol32	9.1	PTPN3, PTEN, MINPP1, CDKN3
8	phosphotyrosine32	9.1	PTPN3, PTEN, DUSP13, CDKN3
9	phosphoinositide32	9.0	HADHA, PTPN3, PTEN, CDKN3
10	paraffin32	8.7	TEP1, PTEN, SMAD4, STK11
11	atp32	8.3	HADHA, STK11, PTPN3, PTEN, CDKN3
12	glucose32	8.1	PTEN, PTPN3, SMAD4, STK11, HADHA
13	alanine32	7.8	HADHA, STK11, SMAD4, PTPN3, PTEN, CDKN3
14	threonine32	7.1	BMPR1A, HADHA, STK11, SMAD4, PTPN3, PTEN
15	serine32	7.1	HADHA, STK11, SMAD4, PTPN3, PTEN, DUSP13

Cellular components related to bannayan-riley-ruvalcaba syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:005737	6.6	TNS1, DUSP13, TEP1, PTEN, PTPN3, SMAD4

Biological processes related to bannayan-riley-ruvalcaba syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	peptidyl-tyrosine dephosphorylation	GO:035335	9.3	CDKN3, PTEN, PTPN3
2	positive regulation of SMAD protein import into nucleus	GO:060391	9.2	BMPR1A, SMAD4
3	positive regulation of transforming growth factor beta receptor signaling pathway	GO:030511	9.1	SMAD4, STK11
4	developmental growth	GO:048589	9.1	BMPR1A, SMAD4
5	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:010862	8.8	BMPR1A, SMAD4
6	negative regulation of cell proliferation	GO:008285	8.4	STK11, SMAD4, PTEN, CDKN3

Molecular functions related to bannayan-riley-ruvalcaba syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein tyrosine/serine/threonine phosphatase activity	GO:008138	9.3	CDKN3, DUSP13, PTEN
2	protein tyrosine phosphatase activity	GO:004725	8.6	CDKN3, DUSP13, PTEN, PTPN3