MCID: RVL002
MIFTS: 41

Ruvalcaba Syndrome malady

Neuronal diseases, Fetal diseases categories

Summaries for Ruvalcaba Syndrome

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46OMIM, 32MalaCards
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MalaCards: Ruvalcaba Syndrome is related to bannayan-riley-ruvalcaba syndrome and juvenile polyposis syndrome, and has symptoms including short limbs/micromelia/brachymelia, downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures and clinodactyly of fifth finger. An important gene associated with Ruvalcaba Syndrome is PTEN (phosphatase and tensin homolog), and among its related pathways are Integrated Pancreatic Cancer Pathway and TGF-beta Receptor Signaling Pathway. The compounds paraffin and phosphatidylinositol 3-phosphate have been mentioned in the context of this disorder. Affiliated tissues include testes, kidney and bone, and related mouse phenotypes are muscle and renal/urinary system.

Description from OMIM:46 180870

Aliases & Classifications for Ruvalcaba Syndrome

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42NIH Rare Diseases, 48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
ruvalcaba syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

ruvalcaba syndrome 42 48 46 60


External Ids:

OMIM46 180870
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet57 3073006
UMLS via Orphanet61 C0265248

Related Diseases for Ruvalcaba Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Ruvalcaba Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1bannayan-riley-ruvalcaba syndrome31.4PTEN, CDKN3
2juvenile polyposis syndrome30.0SMAD4, BMPR1A
3cowden disease30.0LYPD1, TNS1, BMPR1A, STK11, CDKN3, PTEN
4breast cancer30.0CDKN3, TEP1, SMAD4, STK11, PTEN, PTPN3
5arteriovenous fistula10.0
6arteriovenous malformation10.0
7cataract10.0
8lipoma10.0
9lipomatosis10.0
10myopathy10.0
11thyroiditis10.0
12proteus syndrome, somatic10.0
13macrocephaly/autism syndrome10.0PTEN
14carney complex10.0LYPD1
15pituitary adenoma10.0PTPN3
16lung cancer10.0STK11, PTEN
17gliosarcoma10.0PTEN
18pancreatitis10.0SMAD4
19cholangiocarcinoma10.0SMAD4
20leiomyoma10.0SMAD4
21juvenile myelomonocytic leukemia10.0CDKN3
22familial adenomatous polyposis10.0STK11, SMAD4
23proteus syndrome10.0CDKN3, PTEN
24cerebral cavernous malformation10.0PTEN, CDKN3
25melanoma10.0PTPN3, STK11, PTEN
26lafora disease10.0CDKN3, DUSP13
27hereditary hemorrhagic telangiectasia10.0SMAD4, BMPR1A
28adenoma10.0SMAD4, PTPN3, STK11
29endometrial carcinoma10.0PTEN, TEP1, CDKN3
30tuberous sclerosis10.0CDKN3, PTEN, STK11
31papilloma10.0CDKN3, STK11
32adenocarcinoma10.0STK11, TEP1, SMAD4, PTEN
33hypoglycemia10.0STK11, HADHA, CDKN3
34peutz-jeghers syndrome10.0CDKN3, STK11IP, STK11, BMPR1A, PTEN
35stomach cancer10.0STK11, PTEN, PTPN3, SMAD4, TEP1
36pancreatic cancer10.0SMAD4, PTPN3, TEP1, STK11, BMPR1A
37colorectal cancer10.0SMAD4, PTEN, STK11, PTPN3
38malignant glioma10.0SMAD4, TEP1, CDKN3, PTEN
39prostate cancer10.0CDKN3, PTEN, SMAD4, BMPR1A, DUSP13
40colon cancer10.0CDKN3, PTPN3, STK11, PTEN, SMAD4

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



Diseases related to ruvalcaba syndrome

Clinical Features for Ruvalcaba Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

180870

Clinical synopsis from OMIM:

180870

Symptoms:

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

Drugs & Therapeutics for Ruvalcaba Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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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32MalaCards
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MalaCards organs/tissues related to Ruvalcaba Syndrome:

32
Testes, Kidney, Bone, Skin

Animal Models for Ruvalcaba Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Ruvalcaba Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.9SMAD4, PTEN, STK11, BMPR1A, HADHA
2MP:00053678.6TNS1, HADHA, STK11, PTEN, SMAD4
3MP:00053858.1TNS1, HADHA, BMPR1A, STK11, PTEN, SMAD4
4MP:00028738.1SMAD4, PTPN3, PTEN, TEP1, MINPP1, STK11

Publications for Ruvalcaba Syndrome

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Genetic Variations for Ruvalcaba Syndrome

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Expression for genes affiliated with Ruvalcaba Syndrome

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Sources:
1BioGPS, 15Gene 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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37NCBI BioSystems Database
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Pathways related to Ruvalcaba Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6SMAD4, PTEN, STK11
29.4SMAD4, STK11IP, STK11
39.4STK11, STK11IP, SMAD4
49.2SMAD4, PTEN, STK11, BMPR1A

Compounds for genes affiliated with Ruvalcaba Syndrome

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Ruvalcaba Syndrome according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1paraffin449.5STK11, TEP1, PTEN, SMAD4
2phosphatidylinositol 3-phosphate449.4PTEN, CDKN3
3cetuximab44 49 1111.4PTEN, CDKN3
4cl 100449.3CDKN3, DUSP13
5erbstatin449.3PTPN3, CDKN3
6p-nitrophenyl phosphate449.2CDKN3, PTPN3
7sodium fluoride449.2CDKN3, PTPN3
8phosphothreonine448.9DUSP13, CDKN3, PTPN3
9inositol448.8PTPN3, PTEN, CDKN3, MINPP1
10glucose448.7HADHA, STK11, PTEN, PTPN3, SMAD4
11phosphoinositide448.7HADHA, CDKN3, PTEN, PTPN3
12okadaic acid44 599.7CDKN3, PTEN, PTPN3
13phosphotyrosine448.6PTPN3, PTEN, CDKN3, DUSP13
14atp44 289.3PTPN3, PTEN, CDKN3, STK11, HADHA
15h2o2448.1PTPN3, PTEN, CDKN3, DUSP13
16alanine448.1HADHA, STK11, CDKN3, PTEN, PTPN3, SMAD4
17threonine447.4SMAD4, HADHA, BMPR1A, STK11, DUSP13, CDKN3
18serine447.4HADHA, BMPR1A, STK11, DUSP13, CDKN3, PTEN

GO Terms for genes affiliated with Ruvalcaba Syndrome

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16Gene Ontology
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Cellular components related to Ruvalcaba Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1internal side of plasma membraneGO:0098989.6PTPN3, PTEN
2cytoplasmGO:0057376.6SMAD4, TNS1, HADHA, STK11, STK11IP, DUSP13

Biological processes related to Ruvalcaba Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of SMAD protein import into nucleusGO:0603919.9SMAD4, BMPR1A
2developmental growthGO:0485899.8SMAD4, BMPR1A
3positive regulation of transforming growth factor beta receptor signaling pathwayGO:0305119.7SMAD4, STK11
4positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.5SMAD4, BMPR1A
5protein dephosphorylationGO:0064709.3DUSP13, PTEN, PTPN3
6peptidyl-tyrosine dephosphorylationGO:0353358.9PTPN3, PTEN, CDKN3
7negative regulation of cell proliferationGO:0082858.7STK11, CDKN3, PTEN, SMAD4

Molecular functions related to Ruvalcaba Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine/serine/threonine phosphatase activityGO:0081389.0PTEN, CDKN3, DUSP13
2protein tyrosine phosphatase activityGO:0047258.1PTPN3, PTEN, CDKN3, DUSP13

Products for genes affiliated with Ruvalcaba Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ruvalcaba Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet