MCID: PTN006
MIFTS: 37

Pten Hamartoma Tumor Syndrome malady

Genetic diseases (common), Cancer diseases categories

Summaries for Pten Hamartoma Tumor Syndrome

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20GeneReviews, 34MalaCards
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MalaCards: Pten Hamartoma Tumor Syndrome is related to breast cancer and thyroiditis. An important gene associated with Pten Hamartoma Tumor Syndrome is PTEN (phosphatase and tensin homolog), and among its related pathways are Translation Insulin regulation of translation and Glioblastoma Multiforme. The compounds deoxyribonucleic acid and agar have been mentioned in the context of this disorder. Affiliated tissues include thyroid, breast and b cells, and related mouse phenotypes are tumorigenesis and craniofacial.

GeneReviews summary for phts

Aliases & Classifications for Pten Hamartoma Tumor Syndrome

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20GeneReviews, 21GeneTests, 23GTR, 48OMIM, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common), Cancer diseases


Aliases & Descriptions:

pten hamartoma tumor syndrome 20 21 23 48 63


Related Diseases for Pten Hamartoma Tumor Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Pten Hamartoma Tumor Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 23)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer30.4NF2, PTEN
2thyroiditis10.4
3cowden syndrome 110.4
4choroiditis10.3
5papillary renal cell carcinoma10.3
6bannayan-riley-ruvalcaba syndrome10.3
7juvenile polyposis syndrome10.3
8breast disease10.3
9cataract10.3
10hemangioma10.3
11neuroma10.3
12renal cell carcinoma10.3
13ependymoma10.1NF2
14anaplastic ependymoma10.0NF2, PTEN
15meningioma10.0NF2, PTEN
16brain cancer10.0NF2, PTEN
17astrocytoma10.0NF2, PTEN
18malignant glioma10.0PTEN, NF2
19ovarian cancer10.0NF2, PTEN
20colorectal cancer10.0NF2, PTEN
21prostate cancer10.0NF2, PTEN
22adenocarcinoma10.0PTEN, NF2
23melanoma9.9NF2, PTEN

Graphical network of the top 20 diseases related to Pten Hamartoma Tumor Syndrome:



Diseases related to pten hamartoma tumor syndrome

Symptoms for Pten Hamartoma Tumor Syndrome

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Drugs & Therapeutics for Pten Hamartoma Tumor Syndrome

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

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Genetic Tests for Pten Hamartoma Tumor Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Pten Hamartoma Tumor Syndrome:

id Genetic test Affiliating Genes
1 Pten Hamartoma Tumor Syndrome (phts)21 PTEN
2 Pten Hamartoma Tumor Syndrome23

Anatomical Context for Pten Hamartoma Tumor Syndrome

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34MalaCards
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MalaCards organs/tissues related to Pten Hamartoma Tumor Syndrome:

34
Thyroid, Breast, B cells

Animal Models for Pten Hamartoma Tumor Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Pten Hamartoma Tumor Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.2NF2, PTEN
2MP:00053829.1NF2, PTEN
3MP:00053889.1NF2, PTEN
4MP:00053709.0PTEN, NF2
5MP:00053678.8NF2, PTEN

Publications for Pten Hamartoma Tumor Syndrome

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53PubMed
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Articles related to Pten Hamartoma Tumor Syndrome:

(show all 21)
idTitleAuthorsYear
1
Spatially distinct roles of class Ia PI3K isoforms in the development and maintenance of PTEN hamartoma tumor syndrome. (23873941)
2013
2
Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. (24136893)
2013
3
Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. (23934601)
2013
4
AKT activation promotes PTEN hamartoma tumor syndrome-associated cataract development. (24270425)
2013
5
Sirolimus treatment of severe PTEN hamartoma tumor syndrome: case report and in vitro studies. (24366516)
2013
6
Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes. (24136892)
2013
7
The gene dosage of class Ia PI3K dictates the development of PTEN hamartoma tumor syndrome. (24131925)
2013
8
Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. (22266152)
2012
9
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. (22628360)
2012
10
Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome. (22281088)
2012
11
Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome. (22381246)
2012
12
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. (22595938)
2012
13
Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome. (20962022)
2011
14
Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity. (21190448)
2011
15
Head circumference in the clinical detection of PTEN hamartoma tumor syndrome in a clinic population at high-risk of breast cancer. (20349131)
2010
16
PTEN hamartoma tumor syndrome: an overview. (19668082)
2009
17
PTEN hamartoma tumor syndromes. (18781191)
2008
18
Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report. (17941496)
2007
19
Mucocutaneous neuromas: an underrecognized manifestation of PTEN hamartoma-tumor syndrome. (16702501)
2006
20
CASE 4. Fibrocystic breast disease in a 16-year-old female with PTEN hamartoma tumor syndrome. (16421431)
2006
21
PTEN Hamartoma Tumor Syndrome (PHTS) (20301661)
1993

Variations for Pten Hamartoma Tumor Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Pten Hamartoma Tumor Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1PTENNM_000314.4(PTEN): c.697C> T (p.Arg233Ter)single nucleotide variantPathogenicrs121909219GRCh37Chr 10, 89717672: 89717672

Expression for genes affiliated with Pten Hamartoma Tumor Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pten Hamartoma Tumor Syndrome

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Pathways for genes affiliated with Pten Hamartoma Tumor Syndrome

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51PathCards, 61Thomson Reuters, 39NCBI BioSystems Database, 31KEGG, 56Reactome, 54QIAGEN
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Pathways related to Pten Hamartoma Tumor Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
9.1NF2, PTEN
29.1NF2, PTEN

Compounds for genes affiliated with Pten Hamartoma Tumor Syndrome

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46Novoseek, 30IUPHAR, 62Tocris Bioscience, 25HMDB, 12DrugBank
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Compounds related to Pten Hamartoma Tumor Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1deoxyribonucleic acid469.3NF2, PTEN
2agar469.2NF2, PTEN
3rapamycin469.2NF2, PTEN
4paraffin469.1PTEN, NF2
5cysteine469.1NF2, PTEN
6progesterone46 30 62 25 1213.0NF2, PTEN
7threonine468.8NF2, PTEN

GO Terms for genes affiliated with Pten Hamartoma Tumor Syndrome

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17Gene Ontology
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Biological processes related to Pten Hamartoma Tumor Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell proliferationGO:0082859.1NF2, PTEN
2negative regulation of cell migrationGO:0303368.8NF2, PTEN

Products for genes affiliated with Pten Hamartoma Tumor Syndrome

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Sources for Pten Hamartoma Tumor 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