Aliases & Classifications for Pten Hamartoma Tumor Syndrome

MalaCards integrated aliases for Pten Hamartoma Tumor Syndrome:

Name: Pten Hamartoma Tumor Syndrome 12 23 49 36 28 69
Phts 23 49

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 : 49 PTEN hamartoma tumorsyndrome 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, autistic behavior and thyroid adenoma. 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, skin and bone.

Disease Ontology : 12 A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene.

GeneReviews: NBK1488

Related Diseases for Pten Hamartoma Tumor Syndrome

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:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 hallmark (90%) HP:0000256
2 autistic behavior 31 frequent (33%) HP:0000729
3 thyroid adenoma 31 occasional (7.5%) HP:0000854
4 hemangioma 31 frequent (33%) HP:0001028
5 intellectual disability 31 occasional (7.5%) HP:0001249
6 freckling 31 frequent (33%) HP:0001480
7 thyroid carcinoma 31 frequent (33%) HP:0002890
8 breast carcinoma 31 frequent (33%) HP:0003002
9 colon cancer 31 occasional (7.5%) HP:0003003
10 ganglioneuroma 31 hallmark (90%) HP:0003005
11 renal cell carcinoma 31 frequent (33%) HP:0005584
12 multinodular goiter 31 occasional (7.5%) HP:0005987
13 abnormality of the retinal vasculature 31 occasional (7.5%) HP:0008046
14 plantar pits 31 hallmark (90%) HP:0010612
15 lipoma 31 hallmark (90%) HP:0012032
16 endometrial carcinoma 31 frequent (33%) HP:0012114
17 abnormality of cerebral veins 31 occasional (7.5%) HP:0012480
18 papilloma 31 hallmark (90%) HP:0012740
19 multiple trichilemmomata 31 hallmark (90%) HP:0012846
20 hyperkeratotic papule 31 frequent (33%) HP:0045059

Drugs & Therapeutics for Pten Hamartoma Tumor Syndrome

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome (PTEN) Recruiting NCT02991807 Phase 1, Phase 2 RAD001;Placebo
2 Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations Recruiting NCT02461446
3 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Pten Hamartoma Tumor Syndrome

Genetic Tests for Pten Hamartoma Tumor Syndrome

Genetic tests related to Pten Hamartoma Tumor Syndrome:

# Genetic test Affiliating Genes
1 Pten Hamartoma Tumor Syndrome 28 PTEN

Anatomical Context for Pten Hamartoma Tumor Syndrome

MalaCards organs/tissues related to Pten Hamartoma Tumor Syndrome:

38
Thyroid, Skin, Bone, Uterus, Colon, B Cells

Publications for Pten Hamartoma Tumor Syndrome

Articles related to Pten Hamartoma Tumor Syndrome:

(show all 35)
# Title Authors Year
1
Thyroid disease in children and adolescents with PTEN hamartoma tumor syndrome (PHTS). ( 29273943 )
2018
2
Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome. ( 29152901 )
2018
3
PTEN hamartoma of the soft tissue: the initial manifestation of an underlying PTEN hamartoma tumor syndrome in a 4-year-old female. ( 28756566 )
2017
4
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? ( 28286253 )
2017
5
Germline PTEN Mutation Analysis for PTEN Hamartoma Tumor Syndrome. ( 27033071 )
2016
6
Genodermatosis Affecting the Skin and Mucosa of the Head and Neck: Clinicopathologic, Genetic, and Molecular Aspect-PTEN-Hamartoma Tumor Syndrome/Cowden Syndrome. ( 26975628 )
2016
7
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory TA cells. ( 27477328 )
2016
8
PTEN hamartoma tumor syndrome: Clinical risk assessment and management protocol. ( 25461771 )
2015
9
PTEN hamartoma tumor syndrome. ( 26564076 )
2015
10
Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome. ( 26185318 )
2015
11
ACG Guidelines on Management of PTEN-Hamartoma Tumor Syndrome: Does the Evidence Support so Much so Young? ( 26673503 )
2015
12
Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review. ( 24587660 )
2014
13
RE: Cowden syndrome and PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. ( 24899679 )
2014
14
The gene dosage of class Ia PI3K dictates the development of PTEN hamartoma tumor syndrome. ( 24131925 )
2013
15
Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. ( 24136893 )
2013
16
Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes. ( 24136892 )
2013
17
Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. ( 23934601 )
2013
18
PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol. ( 24123798 )
2013
19
AKT activation promotes PTEN hamartoma tumor syndrome-associated cataract development. ( 24270425 )
2013
20
Spatially distinct roles of class Ia PI3K isoforms in the development and maintenance of PTEN hamartoma tumor syndrome. ( 23873941 )
2013
21
Sirolimus treatment of severe PTEN hamartoma tumor syndrome: case report and in vitro studies. ( 24366516 )
2013
22
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. ( 22628360 )
2012
23
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. ( 22595938 )
2012
24
Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. ( 22266152 )
2012
25
Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome. ( 22381246 )
2012
26
Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome. ( 22281088 )
2012
27
Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome. ( 20962022 )
2011
28
Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity. ( 21190448 )
2011
29
Head circumference in the clinical detection of PTEN hamartoma tumor syndrome in a clinic population at high-risk of breast cancer. ( 20349131 )
2010
30
PTEN hamartoma tumor syndrome: an overview. ( 19668082 )
2009
31
PTEN hamartoma tumor syndromes. ( 18781191 )
2008
32
Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report. ( 17941496 )
2007
33
CASE 4. Fibrocystic breast disease in a 16-year-old female with PTEN hamartoma tumor syndrome. ( 16421431 )
2006
34
Mucocutaneous neuromas: an underrecognized manifestation of PTEN hamartoma-tumor syndrome. ( 16702501 )
2006
35
PTEN Hamartoma Tumor Syndrome (PHTS) ( 20301661 )
1993

Variations for Pten Hamartoma Tumor Syndrome

ClinVar genetic disease variations for Pten Hamartoma Tumor Syndrome:

6 (show top 50) (show all 99)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909229 GRCh38 Chromosome 10, 87933148: 87933148
2 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909231 GRCh37 Chromosome 10, 89720852: 89720852
3 PTEN NM_000314.6(PTEN): c.701G> A (p.Arg234Gln) single nucleotide variant risk factor rs121909235 GRCh37 Chromosome 10, 89717676: 89717676
4 PTEN NM_000314.6(PTEN): c.507delC (p.Ser170Valfs) deletion Pathogenic rs587776673 GRCh37 Chromosome 10, 89711889: 89711889
5 PTEN NM_000314.6(PTEN): c.395G> T (p.Gly132Val) single nucleotide variant Pathogenic/Likely pathogenic rs121909241 GRCh37 Chromosome 10, 89692911: 89692911
6 PTEN NM_000314.6(PTEN): c.955_958delACTT (p.Thr319Terfs) deletion Pathogenic rs146650273 GRCh37 Chromosome 10, 89720804: 89720807
7 PTEN NM_000314.6(PTEN): c.800delA (p.Lys267Argfs) deletion Pathogenic rs121913289 GRCh37 Chromosome 10, 89717775: 89717775
8 PTEN NM_000314.6(PTEN): c.338G> T (p.Ser113Ile) single nucleotide variant Pathogenic rs587781254 GRCh37 Chromosome 10, 89692854: 89692854
9 PTEN NM_000314.6(PTEN): c.379G> A (p.Gly127Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587781255 GRCh37 Chromosome 10, 89692895: 89692895
10 PTEN NM_000314.6(PTEN): c.48T> A (p.Tyr16Ter) single nucleotide variant Pathogenic rs587782187 GRCh37 Chromosome 10, 89624274: 89624274
11 PTEN NM_000314.6(PTEN): c.741dup (p.Pro248Thrfs) duplication Pathogenic rs587782341 GRCh37 Chromosome 10, 89717716: 89717716
12 PTEN NM_000314.6(PTEN): c.781C> T (p.Gln261Ter) single nucleotide variant Pathogenic rs730882131 GRCh38 Chromosome 10, 87957999: 87957999
13 PTEN NM_000314.6(PTEN): c.406T> C (p.Cys136Arg) single nucleotide variant Pathogenic rs786201044 GRCh37 Chromosome 10, 89692922: 89692922
14 PTEN NM_000314.6(PTEN): c.733C> T (p.Gln245Ter) single nucleotide variant Pathogenic rs786202918 GRCh37 Chromosome 10, 89717708: 89717708
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.182A> G (p.His61Arg) single nucleotide variant Pathogenic/Likely pathogenic rs398123316 GRCh37 Chromosome 10, 89685287: 89685287
17 PTEN NM_000314.6(PTEN): c.202T> C (p.Tyr68His) single nucleotide variant Pathogenic/Likely pathogenic rs398123317 GRCh37 Chromosome 10, 89685307: 89685307
18 PTEN NM_000314.6(PTEN): c.284C> T (p.Pro95Leu) single nucleotide variant Pathogenic rs786204856 GRCh38 Chromosome 10, 87933043: 87933043
19 PTEN NM_000314.6(PTEN): c.367C> T (p.His123Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs786204931 GRCh37 Chromosome 10, 89692883: 89692883
20 PTEN NM_000314.6(PTEN): c.407G> A (p.Cys136Tyr) single nucleotide variant Pathogenic rs786204859 GRCh37 Chromosome 10, 89692923: 89692923
21 PTEN NM_000314.6(PTEN): c.491delA (p.Lys164Argfs) deletion Pathogenic rs786204900 GRCh37 Chromosome 10, 89693007: 89693007
22 PTEN NM_000314.6(PTEN): c.511C> T (p.Gln171Ter) single nucleotide variant Pathogenic rs786204864 GRCh37 Chromosome 10, 89711893: 89711893
23 PTEN NM_000314.6(PTEN): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913293 GRCh37 Chromosome 10, 89711899: 89711899
24 PTEN NM_000314.6(PTEN): c.758_761delTCAA (p.Ile253Lysfs) deletion Pathogenic rs786204903 GRCh37 Chromosome 10, 89717733: 89717736
25 PTEN NM_000314.6(PTEN): c.802-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587782455 GRCh38 Chromosome 10, 87960892: 87960892
26 PTEN NM_000314.6(PTEN): c.386G> A (p.Gly129Glu) single nucleotide variant Pathogenic rs121909218 GRCh37 Chromosome 10, 89692902: 89692902
27 PTEN NM_000314.6(PTEN): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh37 Chromosome 10, 89717672: 89717672
28 PTEN NM_000314.6(PTEN): c.347_351delACAAT (p.Asp116Alafs) deletion Pathogenic rs587776666 GRCh37 Chromosome 10, 89692863: 89692867
29 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909224 GRCh37 Chromosome 10, 89692904: 89692904
30 PTEN NM_000314.6(PTEN): c.253+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776667 GRCh37 Chromosome 10, 89690847: 89690847
31 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909229 GRCh37 Chromosome 10, 89692905: 89692905
32 PTEN NM_000314.6(PTEN): c.71A> G (p.Asp24Gly) single nucleotide variant Pathogenic rs797044910 GRCh37 Chromosome 10, 89624297: 89624297
33 PTEN NM_000314.6(PTEN): c.437T> G (p.Leu146Ter) single nucleotide variant Pathogenic rs786204933 GRCh38 Chromosome 10, 87933196: 87933196
34 PTEN NM_000314.6(PTEN): c.845delG (p.Gly282Aspfs) deletion Pathogenic rs864622451 GRCh37 Chromosome 10, 89720694: 89720694
35 PTEN NM_000314.6(PTEN): c.987_996dup (p.Ala333Terfs) duplication Pathogenic rs864622387 GRCh37 Chromosome 10, 89720836: 89720845
36 PTEN NM_000314.6(PTEN): c.253+1dup duplication Pathogenic/Likely pathogenic rs876660082 GRCh37 Chromosome 10, 89690847: 89690847
37 PTEN NM_000314.6(PTEN): c.53delA (p.Glu18Glyfs) deletion Pathogenic rs878853940 GRCh38 Chromosome 10, 87864522: 87864522
38 PTEN NM_000314.6(PTEN): c.132dupC (p.Val45Argfs) duplication Pathogenic rs878853933 GRCh38 Chromosome 10, 87894077: 87894077
39 PTEN NM_000314.6(PTEN): c.195C> G (p.Tyr65Ter) single nucleotide variant Pathogenic rs878853936 GRCh37 Chromosome 10, 89685300: 89685300
40 PTEN NM_000314.6(PTEN): c.545dupT (p.Leu182Phefs) duplication Pathogenic rs878853941 GRCh38 Chromosome 10, 87952170: 87952170
41 PTEN NM_000314.6(PTEN): c.757_758dupAT (p.Lys254Serfs) duplication Pathogenic rs878853942 GRCh38 Chromosome 10, 87957975: 87957976
42 PTEN NM_000314.6(PTEN): c.877G> T (p.Gly293Ter) single nucleotide variant Pathogenic rs878853944 GRCh38 Chromosome 10, 87960969: 87960969
43 PTEN NM_000314.6(PTEN): c.80-?_492+?del deletion Pathogenic
44 PTEN NM_000314.6(PTEN): c.320A> T (p.Asp107Val) single nucleotide variant Pathogenic rs786204858 GRCh37 Chromosome 10, 89692836: 89692836
45 PTEN NM_000314.6(PTEN): c.518G> A (p.Arg173His) single nucleotide variant Pathogenic/Likely pathogenic rs121913294 GRCh37 Chromosome 10, 89711900: 89711900
46 PTEN NM_000314.6(PTEN): c.254-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs1057520208 GRCh37 Chromosome 10, 89692769: 89692769
47 PTEN NM_000314.6(PTEN): c.445C> T (p.Gln149Ter) single nucleotide variant Pathogenic rs1060500122 GRCh38 Chromosome 10, 87933204: 87933204
48 PTEN NC_000010.11: g.(?_87894025)_(87894109_?)del deletion Pathogenic GRCh38 Chromosome 10, 87894025: 87894109
49 PTEN NM_000314.6(PTEN): c.945T> G (p.Tyr315Ter) single nucleotide variant Pathogenic rs876661058 GRCh38 Chromosome 10, 87961037: 87961037
50 PTEN NM_000314.6(PTEN): c.200dupT (p.Tyr68Ilefs) duplication Pathogenic rs1060500113 GRCh38 Chromosome 10, 87925548: 87925548

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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.26 NF2 PTEN
2 regulation of cell cycle GO:0051726 9.16 NF2 PTEN
3 negative regulation of cell migration GO:0030336 8.96 NF2 PTEN
4 regulation of protein stability GO:0031647 8.62 NF2 PTEN

Sources for Pten Hamartoma Tumor Syndrome

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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33 ICD10 via Orphanet
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36 KEGG
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42 MESH via Orphanet
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50 NINDS
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65 SNOMED-CT via HPO
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