Aliases & Classifications for Pten Hamartoma Tumor Syndrome

MalaCards integrated aliases for Pten Hamartoma Tumor Syndrome:

Name: Pten Hamartoma Tumor Syndrome 12 24 53 37 29 6 73
Phts 24 53

Characteristics:

GeneReviews:

24
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 : 53 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.

MalaCards based summary : Pten Hamartoma Tumor Syndrome, also known as phts, is related to cowden syndrome 1 and cowden disease. An important gene associated with Pten Hamartoma Tumor Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways is Glioblastoma Multiforme. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include thyroid, skin and bone, and related phenotypes are macrocephaly and autistic behavior

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

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

(show all 21)
# Related Disease Score Top Affiliating Genes
1 cowden syndrome 1 32.2 KLLN PTEN
2 cowden disease 31.1 KLLN PTEN
3 bannayan-riley-ruvalcaba syndrome 12.0
4 juvenile polyposis syndrome 11.2
5 megalencephaly-capillary malformation-polymicrogyria syndrome 11.2
6 thyroiditis 10.2
7 renal cell carcinoma, nonpapillary 9.9
8 renal cell carcinoma, papillary, 1 9.9
9 cataract 9.9
10 hemangioma 9.9
11 mucositis 9.9
12 choroiditis 9.9
13 hypothyroidism 9.9
14 neuroma 9.9
15 breast disease 9.9
16 melanotic neurilemmoma 9.8 NF2 PTEN
17 anaplastic ependymoma 9.7 NF2 PTEN
18 autosomal genetic disease 9.7 NF2 PTEN
19 macrocephaly/autism syndrome 9.5 KLLN PTEN
20 meningioma, familial 9.5 NF2 PTEN
21 brain cancer 9.2 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)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 hallmark (90%) HP:0000256
2 autistic behavior 32 frequent (33%) HP:0000729
3 thyroid adenoma 32 occasional (7.5%) HP:0000854
4 hemangioma 32 frequent (33%) HP:0001028
5 intellectual disability 32 occasional (7.5%) HP:0001249
6 freckling 32 frequent (33%) HP:0001480
7 thyroid carcinoma 32 frequent (33%) HP:0002890
8 breast carcinoma 32 frequent (33%) HP:0003002
9 colon cancer 32 occasional (7.5%) HP:0003003
10 ganglioneuroma 32 hallmark (90%) HP:0003005
11 renal cell carcinoma 32 frequent (33%) HP:0005584
12 multinodular goiter 32 occasional (7.5%) HP:0005987
13 abnormality of the retinal vasculature 32 occasional (7.5%) HP:0008046
14 plantar pits 32 hallmark (90%) HP:0010612
15 lipoma 32 hallmark (90%) HP:0012032
16 endometrial carcinoma 32 frequent (33%) HP:0012114
17 abnormality of cerebral veins 32 occasional (7.5%) HP:0012480
18 papilloma 32 hallmark (90%) HP:0012740
19 multiple trichilemmomata 32 hallmark (90%) HP:0012846
20 hyperkeratotic papule 32 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
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
4 Anti-Bacterial Agents Phase 1, Phase 2
5 Antibiotics, Antitubercular Phase 1, Phase 2
6 Antifungal Agents Phase 1, Phase 2
7 Anti-Infective Agents Phase 1, Phase 2
8 Immunosuppressive Agents 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 29 PTEN

Anatomical Context for Pten Hamartoma Tumor Syndrome

MalaCards organs/tissues related to Pten Hamartoma Tumor Syndrome:

41
Thyroid, Skin, Bone, Uterus, Colon, B Cells

Publications for Pten Hamartoma Tumor Syndrome

Articles related to Pten Hamartoma Tumor Syndrome:

(show all 36)
# Title Authors Year
1
Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome. ( 29152901 )
2018
2
Segmental storiform collagenomas: Expanding the spectrum of PTEN hamartoma tumor syndrome in children. ( 29806868 )
2018
3
Thyroid disease in children and adolescents with PTEN hamartoma tumor syndrome (PHTS). ( 29273943 )
2018
4
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? ( 28286253 )
2017
5
PTEN hamartoma of the soft tissue: the initial manifestation of an underlying PTEN hamartoma tumor syndrome in a 4-year-old female. ( 28756566 )
2017
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
Germline PTEN Mutation Analysis for PTEN Hamartoma Tumor Syndrome. ( 27033071 )
2016
9
PTEN hamartoma tumor syndrome: Clinical risk assessment and management protocol. ( 25461771 )
2015
10
PTEN hamartoma tumor syndrome. ( 26564076 )
2015
11
Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome. ( 26185318 )
2015
12
ACG Guidelines on Management of PTEN-Hamartoma Tumor Syndrome: Does the Evidence Support so Much so Young? ( 26673503 )
2015
13
Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review. ( 24587660 )
2014
14
RE: Cowden syndrome and PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. ( 24899679 )
2014
15
Sirolimus treatment of severe PTEN hamartoma tumor syndrome: case report and in vitro studies. ( 24366516 )
2013
16
Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. ( 24136893 )
2013
17
The gene dosage of class Ia PI3K dictates the development of PTEN hamartoma tumor syndrome. ( 24131925 )
2013
18
Spatially distinct roles of class Ia PI3K isoforms in the development and maintenance of PTEN hamartoma tumor syndrome. ( 23873941 )
2013
19
Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. ( 23934601 )
2013
20
PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol. ( 24123798 )
2013
21
AKT activation promotes PTEN hamartoma tumor syndrome-associated cataract development. ( 24270425 )
2013
22
Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes. ( 24136892 )
2013
23
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. ( 22595938 )
2012
24
Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome. ( 22281088 )
2012
25
Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. ( 22266152 )
2012
26
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. ( 22628360 )
2012
27
Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome. ( 22381246 )
2012
28
Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome. ( 20962022 )
2011
29
Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity. ( 21190448 )
2011
30
Head circumference in the clinical detection of PTEN hamartoma tumor syndrome in a clinic population at high-risk of breast cancer. ( 20349131 )
2010
31
PTEN hamartoma tumor syndrome: an overview. ( 19668082 )
2009
32
PTEN hamartoma tumor syndromes. ( 18781191 )
2008
33
Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report. ( 17941496 )
2007
34
CASE 4. Fibrocystic breast disease in a 16-year-old female with PTEN hamartoma tumor syndrome. ( 16421431 )
2006
35
Mucocutaneous neuromas: an underrecognized manifestation of PTEN hamartoma-tumor syndrome. ( 16702501 )
2006
36
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 860)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.386G> A (p.Gly129Glu) single nucleotide variant Pathogenic rs121909218 GRCh37 Chromosome 10, 89692902: 89692902
2 PTEN NM_000314.6(PTEN): c.386G> A (p.Gly129Glu) single nucleotide variant Pathogenic rs121909218 GRCh38 Chromosome 10, 87933145: 87933145
3 PTEN NM_000314.6(PTEN): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh37 Chromosome 10, 89717672: 89717672
4 PTEN NM_000314.6(PTEN): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh38 Chromosome 10, 87957915: 87957915
5 PTEN NM_000314.6(PTEN): c.347_351delACAAT (p.Asp116Alafs) deletion Pathogenic rs587776666 GRCh37 Chromosome 10, 89692863: 89692867
6 PTEN NM_000314.6(PTEN): c.347_351delACAAT (p.Asp116Alafs) deletion Pathogenic rs587776666 GRCh38 Chromosome 10, 87933106: 87933110
7 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic rs121909224 GRCh37 Chromosome 10, 89692904: 89692904
8 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic rs121909224 GRCh38 Chromosome 10, 87933147: 87933147
9 PTEN NM_000314.6(PTEN): c.253+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776667 GRCh37 Chromosome 10, 89690847: 89690847
10 PTEN NM_000314.6(PTEN): c.253+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776667 GRCh38 Chromosome 10, 87931090: 87931090
11 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic rs121909229 GRCh37 Chromosome 10, 89692905: 89692905
12 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic rs121909229 GRCh38 Chromosome 10, 87933148: 87933148
13 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs121909231 GRCh37 Chromosome 10, 89720852: 89720852
14 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs121909231 GRCh38 Chromosome 10, 87961095: 87961095
15 PTEN NM_000314.6(PTEN): c.507delC (p.Ser170Valfs) deletion Pathogenic rs587776673 GRCh37 Chromosome 10, 89711889: 89711889
16 PTEN NM_000314.6(PTEN): c.507delC (p.Ser170Valfs) deletion Pathogenic rs587776673 GRCh38 Chromosome 10, 87952132: 87952132
17 PTEN NM_000314.6(PTEN): c.395G> T (p.Gly132Val) single nucleotide variant Pathogenic/Likely pathogenic rs121909241 GRCh37 Chromosome 10, 89692911: 89692911
18 PTEN NM_000314.6(PTEN): c.395G> T (p.Gly132Val) single nucleotide variant Pathogenic/Likely pathogenic rs121909241 GRCh38 Chromosome 10, 87933154: 87933154
19 PTEN NM_000314.6(PTEN): c.955_958delACTT (p.Thr319Terfs) deletion Pathogenic rs146650273 GRCh37 Chromosome 10, 89720804: 89720807
20 PTEN NM_000314.6(PTEN): c.955_958delACTT (p.Thr319Terfs) deletion Pathogenic rs146650273 GRCh38 Chromosome 10, 87961047: 87961050
21 PTEN NM_000314.6(PTEN): c.955_958delACTT (p.Thr319Terfs) deletion Pathogenic rs146650273 NCBI36 Chromosome 10, 89710784: 89710787
22 PTEN NM_000314.6(PTEN): c.209+4_209+7delAGTA deletion Pathogenic/Likely pathogenic rs398123318 GRCh37 Chromosome 10, 89685318: 89685321
23 PTEN NM_000314.6(PTEN): c.209+4_209+7delAGTA deletion Pathogenic/Likely pathogenic rs398123318 GRCh38 Chromosome 10, 87925561: 87925564
24 PTEN NM_000314.6(PTEN): c.800delA (p.Lys267Argfs) deletion Pathogenic rs121913289 GRCh37 Chromosome 10, 89717775: 89717775
25 PTEN NM_000314.6(PTEN): c.800delA (p.Lys267Argfs) deletion Pathogenic rs121913289 GRCh38 Chromosome 10, 87958018: 87958018
26 PTEN NM_000314.6(PTEN): c.338G> T (p.Ser113Ile) single nucleotide variant Pathogenic rs587781254 GRCh37 Chromosome 10, 89692854: 89692854
27 PTEN NM_000314.6(PTEN): c.338G> T (p.Ser113Ile) single nucleotide variant Pathogenic rs587781254 GRCh38 Chromosome 10, 87933097: 87933097
28 PTEN NM_000314.6(PTEN): c.379G> A (p.Gly127Arg) single nucleotide variant Likely pathogenic rs587781255 GRCh37 Chromosome 10, 89692895: 89692895
29 PTEN NM_000314.6(PTEN): c.379G> A (p.Gly127Arg) single nucleotide variant Likely pathogenic rs587781255 GRCh38 Chromosome 10, 87933138: 87933138
30 PTEN NM_000314.6(PTEN): c.48T> A (p.Tyr16Ter) single nucleotide variant Pathogenic rs587782187 GRCh37 Chromosome 10, 89624274: 89624274
31 PTEN NM_000314.6(PTEN): c.48T> A (p.Tyr16Ter) single nucleotide variant Pathogenic rs587782187 GRCh38 Chromosome 10, 87864517: 87864517
32 PTEN NM_000314.6(PTEN): c.741dup (p.Pro248Thrfs) duplication Pathogenic rs587782341 GRCh37 Chromosome 10, 89717716: 89717716
33 PTEN NM_000314.6(PTEN): c.741dup (p.Pro248Thrfs) duplication Pathogenic rs587782341 GRCh38 Chromosome 10, 87957959: 87957959
34 PTEN NM_000314.6(PTEN): c.737C> T (p.Pro246Leu) single nucleotide variant Pathogenic/Likely pathogenic rs587782350 GRCh37 Chromosome 10, 89717712: 89717712
35 PTEN NM_000314.6(PTEN): c.737C> T (p.Pro246Leu) single nucleotide variant Pathogenic/Likely pathogenic rs587782350 GRCh38 Chromosome 10, 87957955: 87957955
36 PTEN NM_000314.6(PTEN): c.403A> G (p.Ile135Val) single nucleotide variant Pathogenic/Likely pathogenic rs587782360 GRCh37 Chromosome 10, 89692919: 89692919
37 PTEN NM_000314.6(PTEN): c.403A> G (p.Ile135Val) single nucleotide variant Pathogenic/Likely pathogenic rs587782360 GRCh38 Chromosome 10, 87933162: 87933162
38 PTEN NM_000314.6(PTEN): c.968dupA (p.Asn323Lysfs) duplication Pathogenic rs587783058 GRCh38 Chromosome 10, 87961060: 87961060
39 PTEN NM_000314.6(PTEN): c.968dupA (p.Asn323Lysfs) duplication Pathogenic rs587783058 GRCh37 Chromosome 10, 89720817: 89720817
40 PTEN NM_000314.6(PTEN): c.781C> T (p.Gln261Ter) single nucleotide variant Pathogenic rs730882131 GRCh38 Chromosome 10, 87957999: 87957999
41 PTEN NM_000314.6(PTEN): c.781C> T (p.Gln261Ter) single nucleotide variant Pathogenic rs730882131 GRCh37 Chromosome 10, 89717756: 89717756
42 PTEN NM_000314.6(PTEN): c.-1027C> A single nucleotide variant Benign/Likely benign rs587781128 GRCh37 Chromosome 10, 89623199: 89623199
43 PTEN NM_000314.6(PTEN): c.-1027C> A single nucleotide variant Benign/Likely benign rs587781128 GRCh38 Chromosome 10, 87863442: 87863442
44 PTEN NM_000314.6(PTEN): c.66C> T (p.Asp22=) single nucleotide variant Likely benign rs786201335 GRCh37 Chromosome 10, 89624292: 89624292
45 PTEN NM_000314.6(PTEN): c.66C> T (p.Asp22=) single nucleotide variant Likely benign rs786201335 GRCh38 Chromosome 10, 87864535: 87864535
46 PTEN NM_000314.6(PTEN): c.75G> A (p.Leu25=) single nucleotide variant Likely benign rs786201506 GRCh37 Chromosome 10, 89624301: 89624301
47 PTEN NM_000314.6(PTEN): c.75G> A (p.Leu25=) single nucleotide variant Likely benign rs786201506 GRCh38 Chromosome 10, 87864544: 87864544
48 PTEN NM_000314.6(PTEN): c.78C> T (p.Thr26=) single nucleotide variant Conflicting interpretations of pathogenicity rs786201280 GRCh37 Chromosome 10, 89624304: 89624304
49 PTEN NM_000314.6(PTEN): c.78C> T (p.Thr26=) single nucleotide variant Conflicting interpretations of pathogenicity rs786201280 GRCh38 Chromosome 10, 87864547: 87864547
50 PTEN NM_000314.6(PTEN): c.114T> G (p.Pro38=) single nucleotide variant Conflicting interpretations of pathogenicity rs748040144 GRCh37 Chromosome 10, 89653816: 89653816

Expression for Pten Hamartoma Tumor Syndrome

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

Pathways for Pten Hamartoma Tumor Syndrome

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

# Super pathways Score Top Affiliating Genes
1 10.67 NF2 PTEN

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 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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