PHTS
MCID: PTN006
MIFTS: 37

Pten Hamartoma Tumor Syndrome (PHTS) malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Pten Hamartoma Tumor Syndrome

Aliases & Descriptions for Pten Hamartoma Tumor Syndrome:

Name: Pten Hamartoma Tumor Syndrome 23 50 24 29 69
Phts 23 50

Characteristics:

GeneReviews:

23
Penetrance More than 90% of individuals with cs have some clinical manifestation of the disorder by the late 20s [nelen et al 1996, eng 2000, zbuk & eng 2007]. by the third decade, 99% of affected individuals develop the mucocutaneous stigmata, primarily trichilemmomas and papillomatous papules, as well as acral and plantar keratoses. (see also clinical description for age at which specific manifestations are likely to become evident.)...

Classifications:



Summaries for Pten Hamartoma Tumor Syndrome

NIH Rare Diseases : 50 pten hamartoma tumor syndrome refers to a spectrum of conditions that are characterized by multiple hamartomas. these conditions include: cowden syndrome - associated with a high risk for benign and malignant (cancerous) tumors of the thyroid, breast, and uterus. affected people may also have macrocephaly and characteristic skin abnormalities. bannayan-riley-ruvalcaba syndrome - characterized by macrocephaly (large head size), hamartomas of the intestines (called hamartomatous intestinal polyps), and dark freckles on the penis. proteus syndrome - characterized by overgrowth of the bones, skin, and other tissues. proteus-like syndrome - people with many of the signs and symptoms associated with proteus syndrome, but who do not meet the diagnostic criteria. pten hamartoma tumor syndrome is caused by changes (mutations) in the pten gene and is inherited in an autosomal dominant manner. treatment is based on the signs and symptoms present in each person. last updated: 10/4/2015

MalaCards based summary : Pten Hamartoma Tumor Syndrome, also known as phts, is related to cowden syndrome 1 and bannayan-riley-ruvalcaba syndrome, and has symptoms including macrocephaly, intellectual disability and abnormality of the retinal vasculature. An important gene associated with Pten Hamartoma Tumor Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are Regulation of lipid metabolism Insulin signaling-generic cascades and Glioblastoma Multiforme. The drugs Miconazole and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include thyroid, breast and skin.

GeneReviews: NBK1488

Related Diseases for Pten Hamartoma Tumor Syndrome

Diseases related to Pten Hamartoma Tumor Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
id Related Disease Score Top Affiliating Genes
1 cowden syndrome 1 11.9
2 bannayan-riley-ruvalcaba syndrome 11.8
3 polyposis, juvenile intestinal 11.1
4 cowden disease 11.1
5 thyroiditis 10.0
6 primary familial brain calcification 9.9 NF2 PTEN
7 anorexia nervosa 1 9.9 NF2 PTEN
8 demyelinating disease 9.9 NF2 PTEN
9 aneurysm of sinus of valsalva 9.9 NF2 PTEN
10 ulnar neuropathy 9.9 NF2 PTEN
11 epidural abscess 9.9 NF2 PTEN
12 intestinal benign neoplasm 9.8 NF2 PTEN
13 orofaciodigital syndrome iv 9.8 NF2 PTEN
14 breast cancer 9.8
15 renal cell carcinoma 9.8
16 cataract 9.8
17 hemangioma 9.8
18 mucositis 9.8
19 choroiditis 9.8
20 neuroma 9.8
21 breast disease 9.8
22 pineal dysgerminoma 9.8 NF2 PTEN
23 t-cell large granular lymphocyte leukemia 9.7 NF2 PTEN

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



Diseases related to Pten Hamartoma Tumor Syndrome

Symptoms & Phenotypes for Pten Hamartoma Tumor Syndrome

Human phenotypes related to Pten Hamartoma Tumor Syndrome:

32 (show all 20)
id Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 intellectual disability 32 HP:0001249
3 abnormality of the retinal vasculature 32 HP:0008046
4 renal cell carcinoma 32 HP:0005584
5 colon cancer 32 HP:0003003
6 thyroid adenoma 32 HP:0000854
7 breast carcinoma 32 HP:0003002
8 papule 32 HP:0200034
9 plantar pits 32 HP:0010612
10 lipoma 32 HP:0012032
11 endometrial carcinoma 32 HP:0012114
12 papilloma 32 HP:0012740
13 autistic behavior 32 HP:0000729
14 thyroid carcinoma 32 HP:0002890
15 freckling 32 HP:0001480
16 ganglioneuroma 32 HP:0003005
17 hemangioma 32 HP:0001028
18 multinodular goiter 32 HP:0005987
19 abnormality of cerebral veins 32 HP:0012480
20 multiple trichilemmomata 32 HP:0012846

Drugs & Therapeutics for Pten Hamartoma Tumor Syndrome

Drugs for Pten Hamartoma Tumor Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
2
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
3
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
4 Anti-Bacterial Agents Phase 2,Phase 1
5 Anti-Infective Agents Phase 2,Phase 1
6 Immunosuppressive Agents Phase 2,Phase 1
7 Fluorodeoxyglucose F18 Phase 2
8 Antifungal Agents Phase 2,Phase 1
9 Radiopharmaceuticals Phase 2
10 Antibiotics, Antitubercular Phase 2,Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Sirolimus to Treat Cowden Syndrome and Other PTEN Hamartomatous Tumor Syndromes Completed NCT00971789 Phase 2
2 RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome (PTEN) Recruiting NCT02991807 Phase 1, Phase 2
3 Study of ARQ 092 in Patients With Overgrowth Diseases and Vascular Anomalies Recruiting NCT03094832 Phase 1, Phase 2
4 Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations Recruiting NCT02461446
5 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
6 Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary Presentation Recruiting NCT02664389

Search NIH Clinical Center for Pten Hamartoma Tumor Syndrome

Genetic Tests for Pten Hamartoma Tumor Syndrome

Genetic tests related to Pten Hamartoma Tumor Syndrome:

id Genetic test Affiliating Genes
1 Pten Hamartoma Tumor Syndrome 29
2 Pten Hamartoma Tumor Syndrome (phts) 24 PTEN

Anatomical Context for Pten Hamartoma Tumor Syndrome

MalaCards organs/tissues related to Pten Hamartoma Tumor Syndrome:

39
Thyroid, Breast, Skin, Bone, Uterus, Colon, B Cells

Publications for Pten Hamartoma Tumor Syndrome

Articles related to Pten Hamartoma Tumor Syndrome:

(show all 31)
id Title Authors Year
1
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory TA cells. ( 27477328 )
2016
2
Germline PTEN Mutation Analysis for PTEN Hamartoma Tumor Syndrome. ( 27033071 )
2016
3
Genodermatosis Affecting the Skin and Mucosa of the Head and Neck: Clinicopathologic, Genetic, and Molecular Aspect-PTEN-Hamartoma Tumor Syndrome/Cowden Syndrome. ( 26975628 )
2016
4
PTEN hamartoma tumor syndrome: Clinical risk assessment and management protocol. ( 25461771 )
2015
5
ACG Guidelines on Management of PTEN-Hamartoma Tumor Syndrome: Does the Evidence Support so Much so Young? ( 26673503 )
2015
6
PTEN hamartoma tumor syndrome. ( 26564076 )
2015
7
Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome. ( 26185318 )
2015
8
Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review. ( 24587660 )
2014
9
RE: Cowden syndrome and PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. ( 24899679 )
2014
10
Spatially distinct roles of class Ia PI3K isoforms in the development and maintenance of PTEN hamartoma tumor syndrome. ( 23873941 )
2013
11
AKT activation promotes PTEN hamartoma tumor syndrome-associated cataract development. ( 24270425 )
2013
12
Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes. ( 24136892 )
2013
13
Sirolimus treatment of severe PTEN hamartoma tumor syndrome: case report and in vitro studies. ( 24366516 )
2013
14
Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. ( 23934601 )
2013
15
Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. ( 24136893 )
2013
16
The gene dosage of class Ia PI3K dictates the development of PTEN hamartoma tumor syndrome. ( 24131925 )
2013
17
PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol. ( 24123798 )
2013
18
Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome. ( 22281088 )
2012
19
Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. ( 22266152 )
2012
20
Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome. ( 22381246 )
2012
21
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. ( 22595938 )
2012
22
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. ( 22628360 )
2012
23
Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome. ( 20962022 )
2011
24
Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity. ( 21190448 )
2011
25
Head circumference in the clinical detection of PTEN hamartoma tumor syndrome in a clinic population at high-risk of breast cancer. ( 20349131 )
2010
26
PTEN hamartoma tumor syndrome: an overview. ( 19668082 )
2009
27
PTEN hamartoma tumor syndromes. ( 18781191 )
2008
28
Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report. ( 17941496 )
2007
29
Mucocutaneous neuromas: an underrecognized manifestation of PTEN hamartoma-tumor syndrome. ( 16702501 )
2006
30
CASE 4. Fibrocystic breast disease in a 16-year-old female with PTEN hamartoma tumor syndrome. ( 16421431 )
2006
31
PTEN Hamartoma Tumor Syndrome (PHTS) ( 20301661 )
1993

Variations for Pten Hamartoma Tumor Syndrome

ClinVar genetic disease variations for Pten Hamartoma Tumor Syndrome:

6 (show all 38)
id Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh37 Chromosome 10, 89717672: 89717672
2 PTEN NM_000314.6(PTEN): c.347_351delACAAT (p.Asp116Alafs) deletion Pathogenic rs587776666 GRCh37 Chromosome 10, 89692863: 89692867
3 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909224 GRCh37 Chromosome 10, 89692904: 89692904
4 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909229 GRCh37 Chromosome 10, 89692905: 89692905
5 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909231 GRCh37 Chromosome 10, 89720852: 89720852
6 PTEN NM_000314.6(PTEN): c.507delC (p.Ser170Valfs) deletion Pathogenic rs587776673 GRCh37 Chromosome 10, 89711889: 89711889
7 PTEN NM_000314.6(PTEN): c.395G> T (p.Gly132Val) single nucleotide variant Pathogenic/Likely pathogenic rs121909241 GRCh37 Chromosome 10, 89692911: 89692911
8 PTEN NM_000314.6(PTEN): c.955_958delACTT (p.Thr319Terfs) deletion Pathogenic rs146650273 GRCh37 Chromosome 10, 89720804: 89720807
9 PTEN NM_000314.6(PTEN): c.800delA (p.Lys267Argfs) deletion Pathogenic rs121913289 GRCh37 Chromosome 10, 89717775: 89717775
10 PTEN NM_000314.6(PTEN): c.338G> T (p.Ser113Ile) single nucleotide variant Pathogenic rs587781254 GRCh37 Chromosome 10, 89692854: 89692854
11 PTEN NM_000314.6(PTEN): c.379G> A (p.Gly127Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587781255 GRCh37 Chromosome 10, 89692895: 89692895
12 PTEN NM_000314.6(PTEN): c.48T> A (p.Tyr16Ter) single nucleotide variant Pathogenic rs587782187 GRCh37 Chromosome 10, 89624274: 89624274
13 PTEN NM_000314.6(PTEN): c.781C> T (p.Gln261Ter) single nucleotide variant Pathogenic rs730882131 GRCh38 Chromosome 10, 87957999: 87957999
14 PTEN NM_000314.6(PTEN): c.406T> C (p.Cys136Arg) single nucleotide variant Pathogenic rs786201044 GRCh37 Chromosome 10, 89692922: 89692922
15 PTEN NM_000314.6(PTEN): c.49C> T (p.Gln17Ter) single nucleotide variant Pathogenic rs786204910 GRCh37 Chromosome 10, 89624275: 89624275
16 PTEN NM_000314.6(PTEN): c.491delA (p.Lys164Argfs) deletion Pathogenic rs786204900 GRCh37 Chromosome 10, 89693007: 89693007
17 PTEN NM_000314.6(PTEN): c.511C> T (p.Gln171Ter) single nucleotide variant Pathogenic rs786204864 GRCh37 Chromosome 10, 89711893: 89711893
18 PTEN NM_000314.6(PTEN): c.71A> G (p.Asp24Gly) single nucleotide variant Pathogenic rs797044910 GRCh37 Chromosome 10, 89624297: 89624297
19 PTEN NM_000314.6(PTEN): c.437T> G (p.Leu146Ter) single nucleotide variant Pathogenic rs786204933 GRCh38 Chromosome 10, 87933196: 87933196
20 PTEN NM_000314.6(PTEN): c.845delG (p.Gly282Aspfs) deletion Pathogenic rs864622451 GRCh38 Chromosome 10, 87960937: 87960937
21 PTEN NM_000314.6(PTEN): c.987_996dupTAAAGACAAA (p.Ala333Terfs) duplication Pathogenic rs864622387 GRCh38 Chromosome 10, 87961079: 87961088
22 PTEN NM_000314.6(PTEN): c.53delA (p.Glu18Glyfs) deletion Pathogenic rs878853940 GRCh38 Chromosome 10, 87864522: 87864522
23 PTEN NM_000314.6(PTEN): c.132dupC (p.Val45Argfs) duplication Pathogenic rs878853933 GRCh38 Chromosome 10, 87894077: 87894077
24 PTEN NM_000314.6(PTEN): c.195C> G (p.Tyr65Ter) single nucleotide variant Pathogenic rs878853936 GRCh37 Chromosome 10, 89685300: 89685300
25 PTEN NM_000314.6(PTEN): c.545dupT (p.Leu182Phefs) duplication Pathogenic rs878853941 GRCh38 Chromosome 10, 87952170: 87952170
26 PTEN NM_000314.6(PTEN): c.757_758dupAT (p.Lys254Serfs) duplication Pathogenic rs878853942 GRCh38 Chromosome 10, 87957975: 87957976
27 PTEN NM_000314.6(PTEN): c.877G> T (p.Gly293Ter) single nucleotide variant Pathogenic rs878853944 GRCh37 Chromosome 10, 89720726: 89720726
28 PTEN NM_000314.6(PTEN): c.80-?_492+?del deletion Pathogenic
29 PTEN NM_000314.6(PTEN): c.445C> T (p.Gln149Ter) single nucleotide variant Pathogenic rs1060500122 GRCh38 Chromosome 10, 87933204: 87933204
30 PTEN NC_000010.11: g.(?_87894025)_(87894109_?)del deletion Pathogenic GRCh38 Chromosome 10, 87894025: 87894109
31 PTEN NM_000314.6(PTEN): c.945T> G (p.Tyr315Ter) single nucleotide variant Pathogenic rs876661058 GRCh38 Chromosome 10, 87961037: 87961037
32 PTEN NM_000314.6(PTEN): c.200dupT (p.Tyr68Ilefs) duplication Pathogenic GRCh38 Chromosome 10, 87925548: 87925548
33 PTEN NM_000314.6(PTEN): c.723dupT (p.Glu242Terfs) duplication Pathogenic GRCh38 Chromosome 10, 87957941: 87957941
34 PTEN NM_000314.6(PTEN): c.176C> G (p.Ser59Ter) single nucleotide variant Pathogenic rs1060500116 GRCh38 Chromosome 10, 87925524: 87925524
35 PTEN NM_000314.6(PTEN): c.346_358dupGACAATCATGTTG (p.Ala120Glyfs) duplication Pathogenic GRCh38 Chromosome 10, 87933105: 87933117
36 PTEN NM_000314.6(PTEN): c.675T> G (p.Tyr225Ter) single nucleotide variant Pathogenic rs1057520900 GRCh37 Chromosome 10, 89717650: 89717650
37 PTEN NM_000314.6(PTEN): c.750_751delTG (p.Cys250Trpfs) deletion Pathogenic rs1060500119 GRCh38 Chromosome 10, 87957968: 87957969
38 PTEN NM_000314.6(PTEN): c.629delC (p.Thr210Ilefs) deletion Pathogenic rs1060500114 GRCh38 Chromosome 10, 87952254: 87952254

Expression for Pten Hamartoma Tumor Syndrome

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

Pathways for Pten Hamartoma Tumor Syndrome

GO Terms for Pten Hamartoma Tumor Syndrome

Cellular components related to Pten Hamartoma Tumor Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.96 NF2 PTEN
2 neuron projection GO:0043005 8.62 NF2 PTEN

Biological processes related to Pten Hamartoma Tumor Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.16 NF2 PTEN
2 negative regulation of cell migration GO:0030336 8.96 NF2 PTEN
3 regulation of protein stability GO:0031647 8.62 NF2 PTEN

Sources for Pten Hamartoma Tumor Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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