MCID: PTN006
MIFTS: 30

Pten Hamartoma Tumor Syndrome malady

Cancer category

Summaries for Pten Hamartoma Tumor Syndrome

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19GeneReviews, 33MalaCards
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MalaCards: Pten Hamartoma Tumor Syndrome is related to bannayan-riley-ruvalcaba syndrome and n syndrome. 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 rapamycin and deoxyribonucleic acid have been mentioned in the context of this disorder. Affiliated tissues include thyroid, breast and b cells.

GeneReviews summary for phts

Aliases & Classifications for Pten Hamartoma Tumor Syndrome

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19GeneReviews, 20GeneTests, 22GTR, 47OMIM, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer


Aliases & Descriptions:

pten hamartoma tumor syndrome 19 20 22 47 61


Related Diseases for Pten Hamartoma Tumor Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Pten Hamartoma Tumor Syndrome:



Diseases related to pten hamartoma tumor syndrome

Clinical Features for Pten Hamartoma Tumor Syndrome

Drugs & Therapeutics for Pten Hamartoma Tumor Syndrome

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Pten Hamartoma Tumor Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Pten Hamartoma Tumor Syndrome:

id Genetic test Affiliating Genes
1 Pten Hamartoma Tumor Syndrome (phts)20 PTEN
2 Pten Hamartoma Tumor Syndrome22

Anatomical Context for Pten Hamartoma Tumor Syndrome

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33MalaCards
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MalaCards organs/tissues related to Pten Hamartoma Tumor Syndrome:

33
Thyroid, Breast, B cells

Animal Models for Pten Hamartoma Tumor Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Pten Hamartoma Tumor Syndrome

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51PubMed
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Articles related to Pten Hamartoma Tumor Syndrome:

(show all 23)
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
Beta catenin and cytokine pathway dysregulation in patients with manifestations of the "PTEN hamartoma tumor syndrome". (22520842)
2012
11
Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome. (22281088)
2012
12
Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome. (22381246)
2012
13
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. (22595938)
2012
14
Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome. (20962022)
2011
15
Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity. (21190448)
2011
16
Head circumference in the clinical detection of PTEN hamartoma tumor syndrome in a clinic population at high-risk of breast cancer. (20349131)
2010
17
PTEN hamartoma tumor syndrome: an overview. (19668082)
2009
18
PTEN hamartoma tumor syndromes. (18781191)
2008
19
PTEN hamartomatous tumor syndromes (PHTS): rare syndromes with great relevance to common cancers and targeted drug development. (17643312)
2007
20
Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report. (17941496)
2007
21
Mucocutaneous neuromas: an underrecognized manifestation of PTEN hamartoma-tumor syndrome. (16702501)
2006
22
CASE 4. Fibrocystic breast disease in a 16-year-old female with PTEN hamartoma tumor syndrome. (16421431)
2006
23
PTEN Hamartoma Tumor Syndrome (PHTS) (20301661)
1993

Genetic Variations for Pten Hamartoma Tumor Syndrome

Expression for genes affiliated with Pten Hamartoma Tumor Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pten Hamartoma Tumor Syndrome

Search GEO for disease gene expression data for Pten Hamartoma Tumor Syndrome.

Pathways for genes affiliated with Pten Hamartoma Tumor Syndrome

Sources:
12EMD Millipore, 30KEGG, 38NCBI BioSystems Database, 52QIAGEN
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Pathways related to Pten Hamartoma Tumor Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Translation Insulin regulation of translation
Hide members
9.0PTEN, NF2
29.0PTEN, NF2

Compounds for genes affiliated with Pten Hamartoma Tumor Syndrome

Sources:
45Novoseek
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Compounds related to Pten Hamartoma Tumor Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1rapamycin459.0PTEN, NF2
2deoxyribonucleic acid458.9PTEN, NF2
3agar458.7PTEN, NF2
4paraffin458.5PTEN, TEP1, NF2

GO Terms for genes affiliated with Pten Hamartoma Tumor Syndrome

Sources:
16Gene 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:0082859.0PTEN, NF2
2negative regulation of cell migrationGO:0303368.7PTEN, NF2

Products for genes affiliated with Pten Hamartoma Tumor Syndrome

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  • Proteins
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Sources for Pten Hamartoma Tumor Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet