MCID: RVL002
MIFTS: 39

Ruvalcaba Syndrome malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ruvalcaba Syndrome

Aliases & Descriptions for Ruvalcaba Syndrome:

Name: Ruvalcaba Syndrome 54 50 56 69

Characteristics:

Orphanet epidemiological data:

56
ruvalcaba syndrome
Age of onset: Infancy,Neonatal;

HPO:

32
ruvalcaba syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 180870
Orphanet 56 ORPHA3121
UMLS via Orphanet 70 C0265248
ICD10 via Orphanet 34 Q87.8

Summaries for Ruvalcaba Syndrome

MalaCards based summary : Ruvalcaba Syndrome is related to bannayan-riley-ruvalcaba syndrome and cowden disease, and has symptoms including seizures, ptosis and intellectual disability. An important gene associated with Ruvalcaba Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are Androgen receptor signaling pathway and TGF-beta signaling pathway (KEGG). Affiliated tissues include breast, bone and skin, and related phenotypes are Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance and Decreased sensitivity to paclitaxel

Description from OMIM: 180870

Related Diseases for Ruvalcaba Syndrome

Diseases related to Ruvalcaba Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
id Related Disease Score Top Affiliating Genes
1 bannayan-riley-ruvalcaba syndrome 12.4
2 cowden disease 11.2
3 pten hamartoma tumor syndrome 10.8
4 proteus syndrome, somatic 10.8
5 chromosome 16p12.1 deletion syndrome, 520kb 10.2 BMPR1A PTEN
6 rhizomelic dysplasia, patterson-lowry type 10.1 BMPR1A PTEN
7 porencephaly, cerebellar hypoplasia, and internal malformations 10.1 BMPR1A PTEN
8 c5orf42-related joubert syndrome 10.0 BMPR1A SMAD4
9 pseudoainhum 10.0 BMPR1A SMAD4
10 hypothalamic adipsic hypernatraemia syndrome 10.0 BMPR1A SMAD4
11 herpes simplex encephalitic 6 10.0 PTEN SMAD4
12 vascular malformation 9.9
13 melanoma, cutaneous malignant, 6 9.9 CDKN3 PTEN
14 charcot-marie-tooth disease, axonal, type 2f 9.9 CDKN3 PTEN
15 glomerulosclerosis, focal segmental, 7 9.9 BMPR1A PTEN SMAD4
16 acromesomelic dysplasia, maroteaux type 9.9 PTEN SMAD4
17 lipoma 9.8
18 leukodystrophy, hypomyelinating, 11 9.8 CDKN3 DUSP13
19 thyroiditis 9.7
20 intussusception 9.7
21 familial breast cancer 9.7
22 breast cancer 9.7
23 lchad deficiency 9.7
24 arteriovenous fistula 9.7
25 cataract 9.7
26 chromosome 10q23 deletion syndrome 9.7
27 arteriovenous malformation 9.7
28 lipomatosis 9.7
29 myopathy 9.7
30 macrocephaly/autism syndrome 9.2 BMPR1A CDKN3 HADHA PTEN SMAD4 TNS1
31 childhood teratocarcinoma of the testis 9.2 BMPR1A CDKN3 DUSP13 PTEN SMAD4 TNS1
32 pierre robin syndrome and oligodactyly 9.0 BMPR1A CDKN3 DUSP13 HADHA PTEN SMAD4

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



Diseases related to Ruvalcaba Syndrome

Symptoms & Phenotypes for Ruvalcaba Syndrome

Symptoms by clinical synopsis from OMIM:

180870

Clinical features from OMIM:

180870

Human phenotypes related to Ruvalcaba Syndrome:

56 32 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 ptosis 56 32 Very frequent (99-80%) HP:0000508
3 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
4 scoliosis 56 32 Frequent (79-30%) HP:0002650
5 kyphosis 56 32 Very frequent (99-80%) HP:0002808
6 inguinal hernia 56 32 Occasional (29-5%) HP:0000023
7 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
8 pectus carinatum 56 32 Frequent (79-30%) HP:0000768
9 short nose 56 32 Very frequent (99-80%) HP:0003196
10 microcephaly 56 32 Very frequent (99-80%) HP:0000252
11 abnormality of visual evoked potentials 56 32 Occasional (29-5%) HP:0000649
12 delayed puberty 56 32 Occasional (29-5%) HP:0000823
13 narrow chest 56 32 Frequent (79-30%) HP:0000774
14 micromelia 56 32 Very frequent (99-80%) HP:0002983
15 cone-shaped epiphysis 56 32 Very frequent (99-80%) HP:0010579
16 generalized hirsutism 56 32 Occasional (29-5%) HP:0002230
17 abnormal electroretinogram 56 32 Occasional (29-5%) HP:0000512
18 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
19 hypopigmented skin patches 56 32 Occasional (29-5%) HP:0001053
20 intrauterine growth retardation 56 32 Frequent (79-30%) HP:0001511
21 clinodactyly of the 5th finger 56 32 Occasional (29-5%) HP:0004209
22 small hand 56 32 Very frequent (99-80%) HP:0200055
23 hematuria 56 32 Occasional (29-5%) HP:0000790
24 dental crowding 56 32 Very frequent (99-80%) HP:0000678
25 downslanted palpebral fissures 56 32 Very frequent (99-80%) HP:0000494
26 narrow mouth 56 32 Very frequent (99-80%) HP:0000160
27 brachydactyly syndrome 56 32 Very frequent (99-80%) HP:0001156
28 high forehead 56 32 Frequent (79-30%) HP:0000348
29 abnormality of the elbow 56 32 Frequent (79-30%) HP:0009811
30 convex nasal ridge 56 32 Very frequent (99-80%) HP:0000444
31 thin vermilion border 56 32 Very frequent (99-80%) HP:0000233
32 synostosis of carpal bones 56 32 Very frequent (99-80%) HP:0005048
33 proximal placement of thumb 56 32 Very frequent (99-80%) HP:0009623
34 abnormal localization of kidney 56 32 Occasional (29-5%) HP:0100542
35 short metacarpal 56 32 Very frequent (99-80%) HP:0010049
36 abnormality of vertebral epiphysis morphology 56 32 Frequent (79-30%) HP:0100734
37 short stature 32 HP:0004322
38 short palm 32 HP:0004279
39 short foot 32 HP:0001773
40 underdeveloped nasal alae 32 HP:0000430
41 retinal dystrophy 32 HP:0000556
42 short phalanx of finger 32 HP:0009803
43 narrow nose 32 HP:0000460
44 short metatarsal 32 HP:0010743
45 abnormality of the breast 32 HP:0000769
46 limited elbow extension 32 HP:0001377

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.43 BMPR1A CDKN3 PTEN
2 Decreased sensitivity to paclitaxel GR00112-A-0 9.16 PTEN SMAD4
3 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.13 BMPR1A CDKN3 PTEN
4 Increased mitotic index GR00110-A-0 8.8 BMPR1A SMAD4 TNS1

MGI Mouse Phenotypes related to Ruvalcaba Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 BMPR1A HADHA PTEN SMAD4 TNS1
2 renal/urinary system MP:0005367 8.92 HADHA PTEN SMAD4 TNS1

Drugs & Therapeutics for Ruvalcaba Syndrome

Search Clinical Trials , NIH Clinical Center for Ruvalcaba Syndrome

Genetic Tests for Ruvalcaba Syndrome

Anatomical Context for Ruvalcaba Syndrome

MalaCards organs/tissues related to Ruvalcaba Syndrome:

39
Breast, Bone, Skin, Kidney, Thyroid, Spinal Cord

Publications for Ruvalcaba Syndrome

Articles related to Ruvalcaba Syndrome:

(show top 50) (show all 56)
id Title Authors Year
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

Expression for Ruvalcaba Syndrome

Search GEO for disease gene expression data for Ruvalcaba Syndrome.

GO Terms for Ruvalcaba Syndrome

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.7 CDKN3 PTEN SMAD4
2 BMP signaling pathway GO:0030509 9.55 BMPR1A SMAD4
3 palate development GO:0060021 9.54 BMPR1A SMAD4
4 embryonic digit morphogenesis GO:0042733 9.51 BMPR1A SMAD4
5 negative regulation of ERK1 and ERK2 cascade GO:0070373 9.49 PTEN SMAD4
6 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.48 BMPR1A SMAD4
7 cellular response to BMP stimulus GO:0071773 9.46 BMPR1A SMAD4
8 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.43 CDKN3 PTEN
9 protein dephosphorylation GO:0006470 9.43 CDKN3 DUSP13 PTEN
10 endoderm development GO:0007492 9.4 BMPR1A SMAD4
11 developmental growth GO:0048589 9.37 BMPR1A SMAD4
12 dephosphorylation GO:0016311 9.33 CDKN3 DUSP13 PTEN
13 outflow tract septum morphogenesis GO:0003148 9.32 BMPR1A SMAD4
14 positive regulation of SMAD protein import into nucleus GO:0060391 8.96 BMPR1A SMAD4
15 peptidyl-tyrosine dephosphorylation GO:0035335 8.8 CDKN3 DUSP13 PTEN

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

id Name GO ID Score Top Affiliating Genes
1 phosphatase activity GO:0016791 9.33 CDKN3 DUSP13 PTEN
2 protein serine/threonine phosphatase activity GO:0004722 9.26 CDKN3 PTEN
3 protein tyrosine phosphatase activity GO:0004725 9.13 CDKN3 DUSP13 PTEN
4 protein tyrosine/serine/threonine phosphatase activity GO:0008138 8.8 CDKN3 DUSP13 PTEN

Sources for Ruvalcaba Syndrome

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
38 LifeMap
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48 NDF-RT
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65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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