MCID: PTN006
MIFTS: 40

Pten Hamartoma Tumor Syndrome malady

Genetic diseases (common), Cancer diseases categories

Summaries for Pten Hamartoma Tumor Syndrome

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MalaCards based summary: Pten Hamartoma Tumor Syndrome is related to breast cancer and cowden syndrome 1, and has symptoms including macrocephaly, arteriovenous malformation and intestinal polyposis. 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, colon and breast, and related mouse phenotypes are tumorigenesis and craniofacial.

GeneReviews summary for phts

Aliases & Classifications for Pten Hamartoma Tumor Syndrome

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Pten Hamartoma Tumor Syndrome, Aliases & Descriptions:

Name: Pten Hamartoma Tumor Syndrome 21 22 24 62


Classifications:

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


Related Diseases for Pten Hamartoma Tumor Syndrome

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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
2cowden syndrome 110.4
3thyroiditis10.4
4bannayan-riley-ruvalcaba syndrome10.3
5renal cell carcinoma10.3
6polyposis, juvenile intestinal10.3
7cataract10.3
8hemangioma10.3
9cowden disease10.3
10choroiditis10.3
11breast disease10.3
12neuroma10.3
13ependymoma10.0NF2
14anaplastic ependymoma10.0NF2, PTEN
15meningioma, familial10.0NF2, PTEN
16brain cancer10.0NF2, PTEN
17astrocytoma10.0NF2, PTEN
18malignant glioma10.0PTEN, NF2
19ovarian cancer, somatic10.0NF2, PTEN
20colorectal cancer10.0NF2, PTEN
21prostate cancer10.0NF2, PTEN
22adenocarcinoma10.0PTEN, NF2
23melanoma10.0NF2, 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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HPO human phenotypes related to Pten Hamartoma Tumor Syndrome:

(show all 13)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 arteriovenous malformation hallmark (90%) HP:0100026
3 intestinal polyposis hallmark (90%) HP:0200008
4 abnormality of the penis typical (50%) HP:0000036
5 hyperkeratosis typical (50%) HP:0000962
6 hypermelanotic macule typical (50%) HP:0001034
7 subcutaneous hemorrhage typical (50%) HP:0001933
8 renal neoplasm typical (50%) HP:0009726
9 uterine neoplasm typical (50%) HP:0010784
10 neoplasm of the thyroid gland typical (50%) HP:0100031
11 optic atrophy occasional (7.5%) HP:0000648
12 neoplasm of the colon occasional (7.5%) HP:0100273
13 cognitive impairment occasional (7.5%) HP:0100543

Drugs & Therapeutics for Pten Hamartoma Tumor Syndrome

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Drug clinical trials:

Search ClinicalTrials for Pten Hamartoma Tumor Syndrome

Search NIH Clinical Center for Pten Hamartoma Tumor Syndrome

Genetic Tests for Pten Hamartoma Tumor Syndrome

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Genetic tests related to Pten Hamartoma Tumor Syndrome:

id Genetic test Affiliating Genes
1 Pten Hamartoma Tumor Syndrome (phts)22 PTEN
2 Pten Hamartoma Tumor Syndrome24

Anatomical Context for Pten Hamartoma Tumor Syndrome

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MalaCards organs/tissues related to Pten Hamartoma Tumor Syndrome:

33
Thyroid, Colon, Breast, B cells

Animal Models for Pten Hamartoma Tumor Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Pten Hamartoma Tumor Syndrome:

37
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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Articles related to Pten Hamartoma Tumor Syndrome:

(show all 24)
idTitleAuthorsYear
1
PTEN hamartoma tumor syndrome: Clinical risk assessment and management protocol. (25461771)
2015
2
Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review. (24587660)
2014
3
RE: Cowden syndrome and PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. (24899679)
2014
4
Spatially distinct roles of class Ia PI3K isoforms in the development and maintenance of PTEN hamartoma tumor syndrome. (23873941)
2013
5
Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. (24136893)
2013
6
Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. (23934601)
2013
7
AKT activation promotes PTEN hamartoma tumor syndrome-associated cataract development. (24270425)
2013
8
Sirolimus treatment of severe PTEN hamartoma tumor syndrome: case report and in vitro studies. (24366516)
2013
9
Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes. (24136892)
2013
10
The gene dosage of class Ia PI3K dictates the development of PTEN hamartoma tumor syndrome. (24131925)
2013
11
Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. (22266152)
2012
12
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. (22628360)
2012
13
Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome. (22281088)
2012
14
Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome. (22381246)
2012
15
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. (22595938)
2012
16
Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome. (20962022)
2011
17
Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity. (21190448)
2011
18
Head circumference in the clinical detection of PTEN hamartoma tumor syndrome in a clinic population at high-risk of breast cancer. (20349131)
2010
19
PTEN hamartoma tumor syndrome: an overview. (19668082)
2009
20
PTEN hamartoma tumor syndromes. (18781191)
2008
21
Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report. (17941496)
2007
22
Mucocutaneous neuromas: an underrecognized manifestation of PTEN hamartoma-tumor syndrome. (16702501)
2006
23
CASE 4. Fibrocystic breast disease in a 16-year-old female with PTEN hamartoma tumor syndrome. (16421431)
2006
24
PTEN Hamartoma Tumor Syndrome (PHTS) (20301661)
1993

Variations for Pten Hamartoma Tumor Syndrome

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Clinvar genetic disease variations for Pten Hamartoma Tumor Syndrome:

7
id Gene Variation Type Significance SNP ID Assembly Location
1PTENNM_000314.4(PTEN): c.338G> T (p.Ser113Ile)single nucleotide variantPathogenicGRCh37Chr 10, 89692854: 89692854
2PTENNM_000314.4(PTEN): c.379G> A (p.Gly127Arg)single nucleotide variantPathogenicGRCh37Chr 10, 89692895: 89692895
3PTENNM_000314.4(PTEN): c.697C> T (p.Arg233Ter)single nucleotide variantPathogenicrs121909219GRCh37Chr 10, 89717672: 89717672
4PTENNM_000314.4(PTEN): c.507delC (p.Ser170Valfs)deletionPathogenicGRCh37Chr 10, 89711889: 89711889
5PTENNM_000314.4(PTEN): c.395G> T (p.Gly132Val)single nucleotide variantPathogenicrs121909241GRCh37Chr 10, 89692911: 89692911

Expression for genes affiliated with Pten Hamartoma Tumor Syndrome

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

Pathways for genes affiliated with Pten Hamartoma Tumor Syndrome

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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 regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
9.1NF2, PTEN
29.1NF2, PTEN

Compounds for genes affiliated with Pten Hamartoma Tumor Syndrome

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Sources:
45Novoseek, 30IUPHAR, 61Tocris Bioscience, 26HMDB, 13DrugBank
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Compounds related to Pten Hamartoma Tumor Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1deoxyribonucleic acid459.3NF2, PTEN
2agar459.2NF2, PTEN
3rapamycin459.2NF2, PTEN
4paraffin459.1PTEN, NF2
5cysteine459.1NF2, PTEN
6progesterone45 30 61 26 1313.0NF2, PTEN
7threonine458.8NF2, PTEN

GO Terms for genes affiliated with Pten Hamartoma Tumor Syndrome

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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:00082859.1NF2, PTEN
2negative regulation of cell migrationGO:00303368.8NF2, PTEN

Products for genes affiliated with Pten Hamartoma Tumor Syndrome

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  • Antibodies
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Sources for Pten Hamartoma Tumor Syndrome

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet