MCID: RVL002
MIFTS: 45

Ruvalcaba Syndrome malady

Rare diseases, Neuronal diseases, Fetal diseases categories

Summaries for Ruvalcaba Syndrome

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48OMIM, 34MalaCards
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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:48 180870

Aliases & Classifications for Ruvalcaba Syndrome

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44NIH Rare Diseases, 50Orphanet, 48OMIM, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
ruvalcaba syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

ruvalcaba syndrome 44 50 48 63


External Ids:

OMIM48 180870
ICD10 via Orphanet27 Q87.8
SNOMED-CT via Orphanet60 3073006
UMLS via Orphanet64 C0265248

Related Diseases for Ruvalcaba Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Ruvalcaba Syndrome:



Diseases related to ruvalcaba syndrome

Symptoms for Ruvalcaba Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

180870

Clinical features from OMIM:

180870

Symptoms:

50 (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

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Ruvalcaba Syndrome

Drug clinical trials:

Search ClinicalTrials for Ruvalcaba Syndrome

Search NIH Clinical Center for Ruvalcaba Syndrome

Search CenterWatch for Ruvalcaba Syndrome

Genetic Tests for Ruvalcaba Syndrome

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Anatomical Context for Ruvalcaba Syndrome

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34MalaCards
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MalaCards organs/tissues related to Ruvalcaba Syndrome:

34
Testes, Skin, Kidney, Bone, Breast, Thyroid

Animal Models for Ruvalcaba Syndrome or affiliated genes

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Publications for Ruvalcaba Syndrome

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53PubMed
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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

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Expression for genes affiliated with Ruvalcaba Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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51PathCards, 56Reactome, 39NCBI BioSystems Database
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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 biosynthesis39
inositol pyrophosphates biosynthesis39
D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis39
9.9MINPP1, PTEN

Compounds for genes affiliated with Ruvalcaba Syndrome

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Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 62Tocris Bioscience, 25HMDB, 30IUPHAR, 3BitterDB
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Compounds related to Ruvalcaba Syndrome according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1phosphatidylinositol 3-phosphate4610.0CDKN3, PTEN
2cetuximab46 52 1212.0PTEN, CDKN3
3bicalutamide46 62 1212.0CDKN3, PTEN
4gsno4610.0CDKN3, PTEN
5erlotinib46 52 1211.9CDKN3, PTEN
6cl 100469.9DUSP13, CDKN3
7calyculin a46 62 1211.8CDKN3, PTEN
8trastuzumab46 52 1211.7CDKN3, PTEN
9erbstatin469.7CDKN3, PTPN3
10p-nitrophenyl phosphate469.7CDKN3, PTPN3
11sodium fluoride469.7CDKN3, PTPN3
12phosphoserine46 2510.7CDKN3, DUSP13
13gefitinib46 52 1211.7CDKN3, PTEN
14sodium orthovanadate46 6210.6PTPN3, CDKN3
15phenylarsine oxide469.6PTPN3, CDKN3
16fluoride469.6CDKN3, PTPN3
17okadaic acid46 6210.4CDKN3, PTEN, PTPN3
18phosphothreonine469.3CDKN3, DUSP13, PTPN3
19wortmannin469.3PTPN3, PTEN, CDKN3
20genistein46 30 62 3 25 1214.2PTPN3, PTEN, CDKN3
21vanadate469.2CDKN3, PTPN3
22inositol469.1PTPN3, PTEN, MINPP1, CDKN3
23phosphoinositide469.1HADHA, PTPN3, PTEN, CDKN3
24alanine469.0CDKN3, PTEN, PTPN3, HADHA
25phosphotyrosine469.0PTPN3, PTEN, DUSP13, CDKN3
26h2o2469.0PTPN3, PTEN, DUSP13, CDKN3
27phosphatidylinositol469.0PTPN3, PTEN, DUSP13, CDKN3
28atp46 3010.0CDKN3, PTEN, PTPN3, HADHA
29cysteine468.9PTPN3, PTEN, DUSP13, CDKN3
30lipid468.8HADHA, PTPN3, PTEN, DUSP13
31aspartate468.7CDKN3, PTEN, PTPN3
32Phosphate258.7PTPN3, PTEN, DUSP13, MINPP1, CDKN3
33calcium46 52 25 1211.4HADHA, PTPN3, PTEN, DUSP13, CDKN3
34Water258.4CDKN3, MINPP1, DUSP13, PTEN, PTPN3, HADHA
35threonine468.3HADHA, PTPN3, PTEN, DUSP13, BMPR1A, CDKN3
36serine468.3HADHA, PTPN3, PTEN, DUSP13, BMPR1A, CDKN3

GO Terms for genes affiliated with Ruvalcaba Syndrome

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17Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ruvalcaba Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet