MCID: RVL002
MIFTS: 45

Ruvalcaba Syndrome malady

Rare diseases, Neuronal diseases, Fetal diseases categories
Download this MalaCard

Summaries for Ruvalcaba Syndrome

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
MalaCards: Ruvalcaba Syndrome is related to bannayan-riley-ruvalcaba syndrome and juvenile polyposis syndrome, and has symptoms including hirsutism/hypertrichosis/increased body hair, abnormal vep/visual evoked potential and abnormal erg/electroretinogram/electroretinography. An important gene associated with 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 testes, skin and kidney.

Description from OMIM:47 180870

Aliases & Classifications for Ruvalcaba Syndrome

About this section
Sources:
43NIH Rare Diseases, 49Orphanet, 47OMIM, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

49
ruvalcaba syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

ruvalcaba syndrome 43 49 47 62


External Ids:

OMIM47 180870
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet59 3073006
UMLS via Orphanet63 C0265248

Related Diseases for Ruvalcaba Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to ruvalcaba syndrome

Symptoms for Ruvalcaba Syndrome

About this section
Sources:
47OMIM, 49Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

180870

Clinical features from OMIM:

180870

Symptoms:

49 (show all 35)
  • hirsutism/hypertrichosis/increased body hair
  • abnormal vep/visual evoked potential
  • abnormal erg/electroretinogram/electroretinography
  • intrauterine growth retardation
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • elbow anomalies(excluding luxation)
  • inguinal/inguinoscrotal/crural hernia
  • clinodactyly of fifth finger
  • irregular/patchy skin hypopigmentation
  • ectopic/horseshoe/fused kidneys
  • hematuria/microhematuria
  • late puberty/hypogonadism/hypogenitalism
  • seizures/epilepsy/absences/spasms/status epilepticus
  • microstomia/little mouth
  • epiphyseal vertebral anomaly
  • scoliosis
  • short limbs/micromelia/brachymelia
  • kyphosis
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • thin/retracted lips
  • beaked nose
  • short/small nose
  • ptosis
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • carpal bones fusion/synostosis
  • short hand/brachydactyly
  • pectus carinatum
  • narrow rib cage/thorax
  • high forehead
  • cone epiphyses/epiphysis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • proximally set thumb
  • metacarpal anomalies/archibald's sign
  • small hand/acromicria
  • microcephaly

Drugs & Therapeutics for Ruvalcaba Syndrome

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Ruvalcaba Syndrome

Search NIH Clinical Center for Ruvalcaba Syndrome

Genetic Tests for Ruvalcaba Syndrome

About this section

Anatomical Context for Ruvalcaba Syndrome

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Ruvalcaba Syndrome:

33
Testes, Skin, Kidney, Bone, Breast, Thyroid

Animal Models for Ruvalcaba Syndrome or affiliated genes

About this section

Publications for Ruvalcaba Syndrome

About this section
Sources:
52PubMed
See all sources

Articles related to Ruvalcaba Syndrome:

(show all 48)
idTitleAuthorsYear
1
Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome. (23662932)
2013
2
Bannayan-Riley-Ruvalcaba Syndrome (BRRS): An Uncommon Case of Haematochezia in a 3-year-old-boy. (23783019)
2013
3
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients. (23907246)
2013
4
Thyroid involvement in two patients with bannayan-riley-ruvalcaba syndrome. (24379037)
2013
5
Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. (22911484)
2012
6
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. (22327138)
2012
7
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
8
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. (21659347)
2011
9
Recurrent and extensive vascular malformations in a patient with Bannayan--Riley--Ruvalcaba syndrome. (21856113)
2011
10
Ruvalcaba syndrome revisited. (20583188)
2010
11
Bannayan Riley Ruvalcaba syndrome. (20697678)
2010
12
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. (19321504)
2009
13
Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. (18080326)
2008
14
Testicular hamartomas in a patient with Bannayan-Riley-Ruvalcaba syndrome. (18645085)
2008
15
Anesthetic management of a child with Bannayan-Riley-Ruvalcaba syndrome. (18499642)
2008
16
Airway obstruction caused by PTEN hamartoma (Bannayan-Riley-Ruvalcaba) syndrome. (18025323)
2007
17
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
18
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. (17033968)
2006
19
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. (16952599)
2006
20
Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. (17032868)
2006
21
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. (16894538)
2006
22
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (16773562)
2006
23
Bannayan-riley-ruvalcaba syndrome from the point of view of the pediatric surgeon. (16909363)
2006
24
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. (16198785)
2005
25
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. (14574156)
2003
26
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
27
Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. (12372056)
2002
28
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. (11332402)
2001
29
Bannayan-Riley-Ruvalcaba syndrome: report of a family. (12117207)
2001
30
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. (11536076)
2001
31
Bannayan-Riley-Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps. (10679034)
2000
32
An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. (10640930)
2000
33
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
34
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
35
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
36
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. (10400993)
1999
37
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. (9661881)
1998
38
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (9856571)
1998
39
Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. (9352843)
1997
40
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. (9286463)
1997
41
Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. (8859033)
1996
42
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome. (7977472)
1994
43
Bannayan-Riley-Ruvalcaba syndrome. (1336932)
1992
44
Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity. (2309773)
1990
45
Apparent Ruvalcaba syndrome with genitourinary abnormalities. (2679089)
1989
46
Ruvalcaba syndrome. (4025405)
1985
47
Ruvalcaba syndrome: autosomal dominant inheritance. (6517098)
1984
48
Ruvalcaba syndrome: a case report. (6489381)
1984

Variations for Ruvalcaba Syndrome

About this section

Expression for genes affiliated with Ruvalcaba Syndrome

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Ruvalcaba Syndrome

Search GEO for disease gene expression data for Ruvalcaba Syndrome.

Pathways for genes affiliated with Ruvalcaba Syndrome

About this section
Sources:
50PathCards, 55Reactome, 38NCBI BioSystems Database
See all sources

Pathways related to 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 biosynthesis38
inositol pyrophosphates biosynthesis38
D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis38
9.9MINPP1, PTEN

Compounds for genes affiliated with Ruvalcaba Syndrome

About this section
Sources:
45Novoseek, 51PharmGKB, 11DrugBank, 61Tocris Bioscience, 24HMDB, 29IUPHAR, 3BitterDB
See all sources

Compounds related to Ruvalcaba Syndrome according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1phosphatidylinositol 3-phosphate4510.0CDKN3, PTEN
2cetuximab45 51 1112.0PTEN, CDKN3
3bicalutamide45 61 1112.0CDKN3, PTEN
4gsno4510.0CDKN3, PTEN
5erlotinib45 51 1111.9CDKN3, PTEN
6cl 100459.9DUSP13, CDKN3
7calyculin a45 61 1111.8CDKN3, PTEN
8trastuzumab45 51 1111.7CDKN3, PTEN
9erbstatin459.7CDKN3, PTPN3
10p-nitrophenyl phosphate459.7CDKN3, PTPN3
11sodium fluoride459.7CDKN3, PTPN3
12phosphoserine45 2410.7CDKN3, DUSP13
13gefitinib45 51 1111.7CDKN3, PTEN
14sodium orthovanadate45 6110.6PTPN3, CDKN3
15phenylarsine oxide459.6PTPN3, CDKN3
16fluoride459.6CDKN3, PTPN3
17okadaic acid45 6110.4CDKN3, PTEN, PTPN3
18phosphothreonine459.3CDKN3, DUSP13, PTPN3
19wortmannin459.3PTPN3, PTEN, CDKN3
20genistein45 29 61 3 24 1114.2PTPN3, PTEN, CDKN3
21vanadate459.2CDKN3, PTPN3
22inositol459.1PTPN3, PTEN, MINPP1, CDKN3
23phosphoinositide459.1HADHA, PTPN3, PTEN, CDKN3
24alanine459.0CDKN3, PTEN, PTPN3, HADHA
25phosphotyrosine459.0PTPN3, PTEN, DUSP13, CDKN3
26h2o2459.0PTPN3, PTEN, DUSP13, CDKN3
27phosphatidylinositol459.0PTPN3, PTEN, DUSP13, CDKN3
28atp45 2910.0CDKN3, PTEN, PTPN3, HADHA
29cysteine458.9PTPN3, PTEN, DUSP13, CDKN3
30lipid458.8HADHA, PTPN3, PTEN, DUSP13
31aspartate458.7CDKN3, PTEN, PTPN3
32Phosphate248.7PTPN3, PTEN, DUSP13, MINPP1, CDKN3
33calcium45 51 24 1111.4HADHA, PTPN3, PTEN, DUSP13, CDKN3
34Water248.4CDKN3, MINPP1, DUSP13, PTEN, PTPN3, HADHA
35threonine458.3HADHA, PTPN3, PTEN, DUSP13, BMPR1A, CDKN3
36serine458.3HADHA, PTPN3, PTEN, DUSP13, BMPR1A, CDKN3

GO Terms for genes affiliated with Ruvalcaba Syndrome

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to 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 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 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 Ruvalcaba Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ruvalcaba Syndrome

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet