PHTS
MCID: PTN006
MIFTS: 37

Pten Hamartoma Tumor Syndrome (PHTS) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Pten Hamartoma Tumor Syndrome

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Aliases & Descriptions for Pten Hamartoma Tumor Syndrome:

Name: Pten Hamartoma Tumor Syndrome 23 48 24 27 68
 
Phts 23 48

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

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NIH Rare Diseases:48 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, 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 are Regulation of lipid metabolism Insulin signaling-generic cascades and Glioblastoma Multiforme. Affiliated tissues include thyroid, breast and skin.

GeneReviews for NBK1488

Related Diseases for Pten Hamartoma Tumor Syndrome

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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

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Human phenotypes related to Pten Hamartoma Tumor Syndrome:

 64 (show all 20)
id Description HPO Frequency HPO Source Accession
1 macrocephaly64 HP:0000256
2 autistic behavior64 HP:0000729
3 thyroid adenoma64 HP:0000854
4 hemangioma64 HP:0001028
5 intellectual disability64 HP:0001249
6 freckling64 HP:0001480
7 thyroid carcinoma64 HP:0002890
8 breast carcinoma64 HP:0003002
9 colon cancer64 HP:0003003
10 ganglioneuroma64 HP:0003005
11 renal cell carcinoma64 HP:0005584
12 multinodular goiter64 HP:0005987
13 abnormality of the retinal vasculature64 HP:0008046
14 plantar pits64 HP:0010612
15 lipoma64 HP:0012032
16 endometrial carcinoma64 HP:0012114
17 abnormality of cerebral veins64 HP:0012480
18 papilloma64 HP:0012740
19 multiple trichilemmomata64 HP:0012846
20 papule64 HP:0200034

Drugs & Therapeutics for Pten Hamartoma Tumor Syndrome

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sirolimusapproved, investigationalPhase 2, Phase 1194053123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
2
Miconazoleapproved, investigational, vet_approvedPhase 2, Phase 1370622916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
3
EverolimusapprovedPhase 2, Phase 11940159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
Zortress
everolimus
4RadiopharmaceuticalsPhase 2514
5Antibiotics, AntitubercularPhase 2, Phase 17180
6Antifungal AgentsPhase 2, Phase 13696
7Immunosuppressive AgentsPhase 2, Phase 113086
8Anti-Bacterial AgentsPhase 2, Phase 111226
9Fluorodeoxyglucose F18Phase 2412
10Anti-Infective AgentsPhase 2, Phase 122062

Interventional clinical trials:

idNameStatusNCT IDPhase
1Sirolimus to Treat Cowden Syndrome and Other PTEN Hamartomatous Tumor SyndromesCompletedNCT00971789Phase 2
2RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome (PTEN)RecruitingNCT02991807Phase 1, Phase 2
3Study of ARQ 092 in Patients With Overgrowth Diseases and Vascular AnomaliesRecruitingNCT03094832Phase 1, Phase 2
4Natural History Study of Individuals With Autism and Germline Heterozygous PTEN MutationsRecruitingNCT02461446
5Familial Investigations of Childhood Cancer PredispositionRecruitingNCT03050268
6Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary PresentationRecruitingNCT02664389

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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 Syndrome27
2 Pten Hamartoma Tumor Syndrome (phts)24 PTEN

Anatomical Context for Pten Hamartoma Tumor Syndrome

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MalaCards organs/tissues related to Pten Hamartoma Tumor Syndrome:

36
Thyroid, Breast, Skin, Bone, Uterus, Colon, B cells

Publications for Pten Hamartoma Tumor Syndrome

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Articles related to Pten Hamartoma Tumor Syndrome:

(show all 31)
idTitleAuthorsYear
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

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Clinvar genetic disease variations for Pten Hamartoma Tumor Syndrome:

5 (show all 38)
id Gene Variation Type Significance SNP ID Assembly Location
1PTENNM_ 000314.6(PTEN): c.338G> T (p.Ser113Ile)SNVPathogenicrs587781254GRCh37Chr 10, 89692854: 89692854
2PTENNM_ 000314.6(PTEN): c.379G> A (p.Gly127Arg)SNVPathogenic/ Likely pathogenicrs587781255GRCh37Chr 10, 89692895: 89692895
3PTENNM_ 000314.6(PTEN): c.48T> A (p.Tyr16Ter)SNVPathogenicrs587782187GRCh37Chr 10, 89624274: 89624274
4PTENNM_ 000314.6(PTEN): c.781C> T (p.Gln261Ter)SNVPathogenicrs730882131GRCh38Chr 10, 87957999: 87957999
5PTENNM_ 000314.6(PTEN): c.406T> C (p.Cys136Arg)SNVPathogenicrs786201044GRCh37Chr 10, 89692922: 89692922
6PTENNM_ 000314.6(PTEN): c.511C> T (p.Gln171Ter)SNVPathogenicrs786204864GRCh37Chr 10, 89711893: 89711893
7PTENNM_ 000314.6(PTEN): c.491delA (p.Lys164Argfs)deletionPathogenicrs786204900GRCh37Chr 10, 89693007: 89693007
8PTENNM_ 000314.6(PTEN): c.49C> T (p.Gln17Ter)SNVPathogenicrs786204910GRCh37Chr 10, 89624275: 89624275
9PTENNM_ 000314.6(PTEN): c.71A> G (p.Asp24Gly)SNVPathogenicrs797044910GRCh37Chr 10, 89624297: 89624297
10PTENNM_ 000314.6(PTEN): c.437T> G (p.Leu146Ter)SNVPathogenicrs786204933GRCh38Chr 10, 87933196: 87933196
11PTENNM_ 000314.6(PTEN): c.987_ 996dupTAAAGACAAA (p.Ala333Terfs)duplicationPathogenicrs864622387GRCh38Chr 10, 87961079: 87961088
12PTENNM_ 000314.6(PTEN): c.845delG (p.Gly282Aspfs)deletionPathogenicrs864622451GRCh38Chr 10, 87960937: 87960937
13PTENNM_ 000314.6(PTEN): c.132dupC (p.Val45Argfs)duplicationPathogenicrs878853933GRCh38Chr 10, 87894077: 87894077
14PTENNM_ 000314.6(PTEN): c.195C> G (p.Tyr65Ter)SNVPathogenicrs878853936GRCh37Chr 10, 89685300: 89685300
15PTENNM_ 000314.6(PTEN): c.53delA (p.Glu18Glyfs)deletionPathogenicrs878853940GRCh38Chr 10, 87864522: 87864522
16PTENNM_ 000314.6(PTEN): c.545dupT (p.Leu182Phefs)duplicationPathogenicrs878853941GRCh38Chr 10, 87952170: 87952170
17PTENNM_ 000314.6(PTEN): c.757_ 758dupAT (p.Lys254Serfs)duplicationPathogenicrs878853942GRCh38Chr 10, 87957975: 87957976
18PTENNM_ 000314.6(PTEN): c.877G> T (p.Gly293Ter)SNVPathogenicrs878853944GRCh37Chr 10, 89720726: 89720726
19PTENNM_ 000314.6(PTEN): c.80-?_ 492+?deldeletionPathogenic
20PTENNM_ 000314.6(PTEN): c.200dupT (p.Tyr68Ilefs)duplicationPathogenicGRCh38Chr 10, 87925548: 87925548
21PTENNM_ 000314.6(PTEN): c.629delC (p.Thr210Ilefs)deletionPathogenicrs1060500114GRCh38Chr 10, 87952254: 87952254
22PTENNM_ 000314.6(PTEN): c.723dupT (p.Glu242Terfs)duplicationPathogenicGRCh38Chr 10, 87957941: 87957941
23PTENNM_ 000314.6(PTEN): c.346_ 358dupGACAATCATGTTG (p.Ala120Glyfs)duplicationPathogenicGRCh38Chr 10, 87933105: 87933117
24PTENNM_ 000314.6(PTEN): c.176C> G (p.Ser59Ter)SNVPathogenicrs1060500116GRCh38Chr 10, 87925524: 87925524
25PTENNM_ 000314.6(PTEN): c.750_ 751delTG (p.Cys250Trpfs)deletionPathogenicrs1060500119GRCh38Chr 10, 87957968: 87957969
26PTENNM_ 000314.6(PTEN): c.945T> G (p.Tyr315Ter)SNVPathogenicrs876661058GRCh38Chr 10, 87961037: 87961037
27PTENNM_ 000314.6(PTEN): c.675T> G (p.Tyr225Ter)SNVPathogenicrs1057520900GRCh37Chr 10, 89717650: 89717650
28PTENNM_ 000314.6(PTEN): c.445C> T (p.Gln149Ter)SNVPathogenicrs1060500122GRCh38Chr 10, 87933204: 87933204
29PTENNC_ 000010.11: g.(?_ 87894025)_ (87894109_ ?)deldeletionPathogenicGRCh38Chr 10, 87894025: 87894109
30PTENNM_ 000314.6(PTEN): c.955_ 958delACTT (p.Thr319Terfs)deletionPathogenicrs146650273GRCh37Chr 10, 89720804: 89720807
31PTENNM_ 000314.6(PTEN): c.697C> T (p.Arg233Ter)SNVPathogenicrs121909219GRCh37Chr 10, 89717672: 89717672
32PTENNM_ 000314.6(PTEN): c.347_ 351delACAAT (p.Asp116Alafs)deletionPathogenicrs587776666GRCh37Chr 10, 89692863: 89692867
33PTENNM_ 000314.6(PTEN): c.388C> T (p.Arg130Ter)SNVPathogenic/ Likely pathogenicrs121909224GRCh37Chr 10, 89692904: 89692904
34PTENNM_ 000314.6(PTEN): c.389G> A (p.Arg130Gln)SNVPathogenic/ Likely pathogenicrs121909229GRCh37Chr 10, 89692905: 89692905
35PTENNM_ 000314.6(PTEN): c.1003C> T (p.Arg335Ter)SNVPathogenic/ Likely pathogenicrs121909231GRCh37Chr 10, 89720852: 89720852
36PTENNM_ 000314.6(PTEN): c.507delC (p.Ser170Valfs)deletionPathogenicrs587776673GRCh37Chr 10, 89711889: 89711889
37PTENNM_ 000314.6(PTEN): c.395G> T (p.Gly132Val)SNVPathogenic/ Likely pathogenicrs121909241GRCh37Chr 10, 89692911: 89692911
38PTENNM_ 000314.6(PTEN): c.800delA (p.Lys267Argfs)deletionPathogenicrs121913289GRCh37Chr 10, 89717775: 89717775

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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GO Terms for genes affiliated with Pten Hamartoma Tumor Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1cell projectionGO:00429959.8NF2, PTEN
2neuron projectionGO:00430059.1NF2, PTEN

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell migrationGO:00303369.8NF2, PTEN
2negative regulation of cell proliferationGO:00082859.6NF2, PTEN
3regulation of protein stabilityGO:00316479.1NF2, PTEN

Sources for Pten Hamartoma Tumor Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet