MCID: RVL002
MIFTS: 39

Ruvalcaba Syndrome malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ruvalcaba Syndrome

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Sources:
31ICD10 via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Ruvalcaba Syndrome:

Name: Ruvalcaba Syndrome 52 48 54 68

Characteristics:

Orphanet epidemiological data:

54
ruvalcaba syndrome:
Age of onset: Infancy,Neonatal

HPO:

64
ruvalcaba syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 180870
Orphanet54 ORPHA3121
UMLS via Orphanet69 C0265248
ICD10 via Orphanet31 Q87.8

Summaries for Ruvalcaba Syndrome

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MalaCards based summary: Ruvalcaba Syndrome is related to bannayan-riley-ruvalcaba syndrome and cowden disease, and has symptoms including Array, Array and Array. An important gene associated with Ruvalcaba Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways are Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex and Androgen receptor signaling pathway. Affiliated tissues include breast, skin and kidney, and related mouse phenotypes are Decreased sensitivity to paclitaxel and Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance.

Description from OMIM:52 180870

Related Diseases for Ruvalcaba Syndrome

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



Diseases related to ruvalcaba syndrome

Symptoms & Phenotypes for Ruvalcaba Syndrome

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Symptoms by clinical synopsis from OMIM:

180870

Clinical features from OMIM:

180870

Human phenotypes related to Ruvalcaba Syndrome:

 54 64 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia64 54 Occasional (29-5%) HP:0000023
2 cryptorchidism64 54 Frequent (79-30%) HP:0000028
3 narrow mouth64 54 Very frequent (99-80%) HP:0000160
4 thin vermilion border64 54 Very frequent (99-80%) HP:0000233
5 microcephaly64 54 Very frequent (99-80%) HP:0000252
6 high forehead64 54 Frequent (79-30%) HP:0000348
7 convex nasal ridge64 54 Very frequent (99-80%) HP:0000444
8 downslanted palpebral fissures64 54 Very frequent (99-80%) HP:0000494
9 ptosis64 54 Very frequent (99-80%) HP:0000508
10 abnormal electroretinogram64 54 Occasional (29-5%) HP:0000512
11 abnormality of visual evoked potentials64 54 Occasional (29-5%) HP:0000649
12 dental crowding64 54 Very frequent (99-80%) HP:0000678
13 pectus carinatum64 54 Frequent (79-30%) HP:0000768
14 narrow chest64 54 Frequent (79-30%) HP:0000774
15 hematuria64 54 Occasional (29-5%) HP:0000790
16 delayed puberty64 54 Occasional (29-5%) HP:0000823
17 hypopigmented skin patches64 54 Occasional (29-5%) HP:0001053
18 brachydactyly syndrome64 54 Very frequent (99-80%) HP:0001156
19 intellectual disability64 54 Very frequent (99-80%) HP:0001249
20 seizures64 54 Occasional (29-5%) HP:0001250
21 global developmental delay64 54 Very frequent (99-80%) HP:0001263
22 intrauterine growth retardation64 54 Frequent (79-30%) HP:0001511
23 generalized hirsutism64 54 Occasional (29-5%) HP:0002230
24 scoliosis64 54 Frequent (79-30%) HP:0002650
25 kyphosis64 54 Very frequent (99-80%) HP:0002808
26 micromelia64 54 Very frequent (99-80%) HP:0002983
27 short nose64 54 Very frequent (99-80%) HP:0003196
28 clinodactyly of the 5th finger64 54 Occasional (29-5%) HP:0004209
29 synostosis of carpal bones64 54 Very frequent (99-80%) HP:0005048
30 proximal placement of thumb64 54 Very frequent (99-80%) HP:0009623
31 abnormality of the elbow64 54 Frequent (79-30%) HP:0009811
32 short metacarpal64 54 Very frequent (99-80%) HP:0010049
33 cone-shaped epiphysis64 54 Very frequent (99-80%) HP:0010579
34 abnormal localization of kidney64 54 Occasional (29-5%) HP:0100542
35 abnormality of vertebral epiphysis morphology64 54 Frequent (79-30%) HP:0100734
36 small hand64 54 Very frequent (99-80%) HP:0200055
37 underdeveloped nasal alae64 HP:0000430
38 narrow nose64 HP:0000460
39 retinal dystrophy64 HP:0000556
40 abnormality of the breast64 HP:0000769
41 limited elbow extension64 HP:0001377
42 short foot64 HP:0001773
43 short palm64 HP:0004279
44 short stature64 HP:0004322
45 short phalanx of finger64 HP:0009803
46 short metatarsal64 HP:0010743

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00112-A-010.3PTEN, SMAD4
2GR00210-A9.7BMPR1A, CDKN3, PTEN
3GR00104-A-09.7BMPR1A, CDKN3, PTEN
4GR00110-A-09.4BMPR1A, SMAD4, TNS1

MGI Mouse Phenotypes related to Ruvalcaba Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.6BMPR1A, HADHA, PTEN, SMAD4, TNS1
2MP:00053678.3HADHA, PTEN, SMAD4, TNS1

Drugs & Therapeutics for Ruvalcaba Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ruvalcaba Syndrome

Genetic Tests for Ruvalcaba Syndrome

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Anatomical Context for Ruvalcaba Syndrome

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MalaCards organs/tissues related to Ruvalcaba Syndrome:

36
Breast, Skin, Kidney, Bone, Thyroid, Spinal cord

Publications for Ruvalcaba Syndrome

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Articles related to Ruvalcaba Syndrome:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report. (28401059)
2017
2
Say What? Bannayan-Riley-Ruvalcaba Syndrome Presenting with Gastrointestinal Bleeding Due to Hamartoma-Induced Intussusception. (28168574)
2017
3
Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome. (27535890)
2016
4
Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome. (27358095)
2016
5
A case of Bannayan-Riley-Ruvalcaba syndrome. A new clinical finding and brief review. (26228616)
2015
6
Torsion of a giant mesocolic lipoma in a child with Bannayan-Riley-Ruvalcaba syndrome. (25008800)
2014
7
Bannayan-Riley-Ruvalcaba Syndrome (BRRS): An Uncommon Case of Haematochezia in a 3-year-old-boy. (23783019)
2013
8
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report. (24474112)
2013
9
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients. (23907246)
2013
10
Thyroid involvement in two patients with bannayan-riley-ruvalcaba syndrome. (24379037)
2013
11
Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome. (23662932)
2013
12
Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. (22911484)
2012
13
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. (22327138)
2012
14
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
15
Recurrent and extensive vascular malformations in a patient with Bannayan--Riley--Ruvalcaba syndrome. (21856113)
2011
16
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. (21659347)
2011
17
Ruvalcaba syndrome revisited. (20583188)
2010
18
Bannayan Riley Ruvalcaba syndrome. (20697678)
2010
19
Treatment of intractable abdominal pain patient with Bannayan-Riley-Ruvalcaba syndrome using spinal cord stimulation. (19813502)
2009
20
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. (19321504)
2009
21
Testicular hamartomas in a patient with Bannayan-Riley-Ruvalcaba syndrome. (18645085)
2008
22
Anesthetic management of a child with Bannayan-Riley-Ruvalcaba syndrome. (18499642)
2008
23
Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. (18080326)
2008
24
Airway obstruction caused by PTEN hamartoma (Bannayan-Riley-Ruvalcaba) syndrome. (18025323)
2007
25
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
26
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. (16894538)
2006
27
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (16773562)
2006
28
Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. (17032868)
2006
29
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. (17033968)
2006
30
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. (16952599)
2006
31
Bannayan-riley-ruvalcaba syndrome from the point of view of the pediatric surgeon. (16909363)
2006
32
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. (16198785)
2005
33
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. (14574156)
2003
34
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
35
Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. (12372056)
2002
36
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. (11536076)
2001
37
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. (11332402)
2001
38
Bannayan-Riley-Ruvalcaba syndrome: report of a family. (12117207)
2001
39
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
40
An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. (10640930)
2000
41
Bannayan-Riley-Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps. (10679034)
2000
42
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. (10400993)
1999
43
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
44
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
45
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (9856571)
1998
46
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. (9661881)
1998
47
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. (9286463)
1997
48
Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. (9352843)
1997
49
Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. (8859033)
1996
50
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome. (7977472)
1994

Variations for Ruvalcaba Syndrome

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Expression for genes affiliated with Ruvalcaba Syndrome

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Search GEO for disease gene expression data for Ruvalcaba Syndrome.

Pathways for genes affiliated with Ruvalcaba Syndrome

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GO Terms for genes affiliated with Ruvalcaba Syndrome

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of ERK1 and ERK2 cascadeGO:007037310.2PTEN, SMAD4
2BMP signaling pathwayGO:003050910.2BMPR1A, SMAD4
3cellular response to BMP stimulusGO:007177310.2BMPR1A, SMAD4
4developmental growthGO:004858910.2BMPR1A, SMAD4
5embryonic digit morphogenesisGO:004273310.2BMPR1A, SMAD4
6endoderm developmentGO:000749210.2BMPR1A, SMAD4
7outflow tract septum morphogenesisGO:000314810.1BMPR1A, SMAD4
8palate developmentGO:006002110.1BMPR1A, SMAD4
9positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.1BMPR1A, SMAD4
10positive regulation of SMAD protein import into nucleusGO:006039110.1BMPR1A, SMAD4
11dephosphorylationGO:00163119.7CDKN3, DUSP13, PTEN
12negative regulation of cell proliferationGO:00082859.6CDKN3, PTEN, SMAD4
13peptidyl-tyrosine dephosphorylationGO:00353359.6CDKN3, DUSP13, PTEN
14regulation of cyclin-dependent protein serine/threonine kinase activityGO:00000799.5CDKN3, PTEN
15protein dephosphorylationGO:00064709.4CDKN3, DUSP13, PTEN

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

idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine phosphatase activityGO:000472210.0CDKN3, PTEN
2phosphatase activityGO:00167919.5CDKN3, DUSP13, PTEN
3protein tyrosine phosphatase activityGO:00047259.4CDKN3, DUSP13, PTEN
4protein tyrosine/serine/threonine phosphatase activityGO:00081389.0CDKN3, DUSP13, PTEN

Sources for Ruvalcaba Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet