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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:PTEN hamartoma tumor syndrome
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Accession:DOID:0080191 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: CS;   Multiple Hamartoma Syndrome;   PTEN hamartoma tumor syndrome with granular cell tumor;   multiple hamartoma syndromes
 narrow_synonym: Colorectal hamartomatous polyposis and ganglioneuromatosis;   MHAM DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM;   PROTEUS-like syndrome;   cerebellar granule cell hypertrophy and megalencephaly;   cerebelloparenchymal disorder VI
 related_synonym: HAMARTOMATOUS POLYPOSIS
 primary_id: MESH:D006223
 alt_id: MESH:C566636;   OMIA:001515
 xref: GARD:12800
For additional species annotation, visit the Alliance of Genome Resources.



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PTEN hamartoma tumor syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:18456716 PMID:21926107 PMID:22382802 PMID:23132533 PMID:23335809 More... NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Ankrd22 ankyrin repeat domain 22 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:18456716 PMID:21926107 PMID:22382802 PMID:23132533 PMID:23335809 More... NCBI chr 1:231,639,035...231,670,537
Ensembl chr 1:231,639,314...231,670,381
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
JBrowse link
G Fam25a family with sequence similarity 25, member A ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr16:9,680,668...9,684,474
Ensembl chr16:9,680,668...9,684,474
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9002682 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
JBrowse link
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:2338203 PMID:9286463 PMID:9467011 PMID:11906179 PMID:12844284 More...
G Lipf lipase F, gastric type ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:16287957 PMID:16685657 PMID:18456716 PMID:18510548 PMID:21926107 More... NCBI chr 1:231,493,498...231,511,845
Ensembl chr 1:231,493,498...231,511,845
JBrowse link
G Lipj lipase family member J ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:16287957 PMID:16685657 PMID:18456716 PMID:18510548 PMID:21926107 More... NCBI chr 1:231,363,526...231,376,784
Ensembl chr 1:231,363,646...231,376,784
JBrowse link
G Lipk lipase, family member K ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:16287957 PMID:16685657 PMID:18456716 PMID:18510548 PMID:21926107 More... NCBI chr 1:231,532,893...231,564,567
Ensembl chr 1:231,532,893...231,564,567
JBrowse link
G Lipm lipase, family member M ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:18456716 PMID:21926107 PMID:22382802 PMID:23132533 PMID:23335809 More... NCBI chr 1:231,618,145...231,637,599
Ensembl chr 1:231,618,284...231,637,410
JBrowse link
G Lipn lipase, family member N ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:16287957 PMID:16685657 PMID:18456716 PMID:18510548 PMID:21926107 More... NCBI chr 1:231,586,197...231,602,370
Ensembl chr 1:231,584,956...231,603,468
JBrowse link
G Minpp1 multiple inositol-polyphosphate phosphatase 1 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr 1:230,354,483...230,379,730
Ensembl chr 1:230,354,438...230,379,730
JBrowse link
G Mmrn2 multimerin 2 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr16:9,705,925...9,727,405
Ensembl chr16:9,705,892...9,727,405
JBrowse link
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr 1:230,454,314...230,539,332
Ensembl chr 1:230,454,426...230,539,331
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Multiple hamartoma syndrome
ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome
ClinVar PMID:15930273 PMID:17376864 PMID:18829572 PMID:19366826 PMID:21824802 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pten phosphatase and tensin homolog susceptibility ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:c.950_953delTACT (human)
mRNA:spice variants:lymphocyte (human)
DNA:missense mutation, nonsense mutations:cds:p.G129E, p.E157X, p.R233X (human)
DNA:deletions:multiple (human)
ClinVar
CTD
RGD
PMID:1097835 PMID:2338203 PMID:7728760 PMID:8071972 PMID:8673088 More... RGD:1302552, RGD:12859041, RGD:12859035, RGD:12802361, RGD:12802356 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Rnls renalase, FAD-dependent amine oxidase ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:16287957 PMID:16685657 PMID:18456716 PMID:18510548 PMID:21926107 More... NCBI chr 1:231,037,481...231,309,855
Ensembl chr 1:231,037,486...231,309,823
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Multiple hamartoma syndrome ClinVar PMID:27604842 PMID:28492532 NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr16:9,544,940...9,640,323
Ensembl chr16:9,548,660...9,639,965
JBrowse link
G Sncg synuclein, gamma ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
JBrowse link
G Stambpl1 STAM binding protein-like 1 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:18456716 PMID:21926107 PMID:22382802 PMID:23132533 PMID:23335809 More... NCBI chr 1:231,699,620...231,745,034
Ensembl chr 1:231,699,995...231,745,032
JBrowse link
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 More...
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar
OMIM
PMID:1097835 PMID:2338203 PMID:7728760 PMID:8673088 PMID:8980400 More... NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA ClinVar PMID:27604842 PMID:28492532 NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
Cowden syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome
ClinVar Annotator: match by term: Cowden's syndrome
ClinVar Annotator: match by term: Cowden disease
ClinVar PMID:9536098 PMID:15930273 PMID:17376864 PMID:17576681 PMID:18074223 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pten phosphatase and tensin homolog ISO
ISS
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: Cowden disease
ClinVar Annotator: match by term: Lhermitte-Duclos disease
ClinVar
MouseDO
PMID:8071972 PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 More... NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Rint1 RAD50 interactor 1 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 4:11,319,416...11,355,773
Ensembl chr 4:11,320,955...11,355,736
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Cowden disease
ClinVar Annotator: match by term: Cowden syndrome
ClinVar PMID:11404820 PMID:14985401 PMID:16314641 PMID:16317055 PMID:16322339 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
Cowden syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klln killin, p53-regulated DNA replication inhibitor ISO OMIM
Cowden syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome 5 OMIM
ClinVar
PMID:17376864 PMID:21824802 PMID:22228622 PMID:22729224 PMID:23246288 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
Cowden syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Cowden syndrome 6 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:17611497 PMID:18256540 PMID:18392055 More... NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
Cowden syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Cowden syndrome 7 ClinVar
OMIM
PMID:22428539 PMID:25741868 PMID:26522472 PMID:28492532 NCBI chr 3:131,939,011...131,981,489
Ensembl chr 3:131,939,337...131,981,489
JBrowse link
Cowden-Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome 2
ClinVar Annotator: match by term: Cowden-like syndrome
ClinVar PMID:15930273 PMID:17376864 PMID:18829572 PMID:19366826 PMID:21824802 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Cowden syndrome 2
ClinVar Annotator: match by term: Cowden-like syndrome
ClinVar PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 More... NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Cowden-like syndrome ClinVar PMID:27604842 PMID:28492532 NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
Macrocephaly Mesodermal Hamartoma Spectrum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Elattoproteus syndrome ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
Proteus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO DNA:missense mutation: :p.E17K (human)
ClinVar Annotator: match by term: Proteus syndrome
ClinVar
OMIM
RGD
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... RGD:5509063 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Proteus-like syndrome
CTD
ClinVar
PMID:9399897 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 More... NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of cellular proliferation 7054
      Multiple Primary Neoplasms 142
        PTEN hamartoma tumor syndrome 27
          Cerebellar Granule Cell Hypertrophy and Megalencephaly 0
          Cerebelloparenchymal Disorder VI 0
          Cowden syndrome + 8
          Cowden-Like Syndrome 3
          Graham Boyle Troxell Syndrome 0
          Multiple Basal Cell Carcinoma 0
          Proteus syndrome + 2
          Sacral Hemangiomas Multiple Congenital Abnormalities 0
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          Hereditary Neoplastic Syndromes 931
            PTEN hamartoma tumor syndrome 27
              Cerebellar Granule Cell Hypertrophy and Megalencephaly 0
              Cerebelloparenchymal Disorder VI 0
              Cowden syndrome + 8
              Cowden-Like Syndrome 3
              Graham Boyle Troxell Syndrome 0
              Multiple Basal Cell Carcinoma 0
              Proteus syndrome + 2
              Sacral Hemangiomas Multiple Congenital Abnormalities 0
paths to the root