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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


show annotations for term's descendants           Sort by:
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:9467011 PMID:18456716 PMID:21194675 PMID:21926107 PMID:22382802 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:9467011 PMID:18456716 PMID:21194675 PMID:21926107 PMID:22382802 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 Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Lipf lipase F, gastric type ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr 1:231,493,498...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:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 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:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 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:9467011 PMID:18456716 PMID:21194675 PMID:21926107 PMID:22382802 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:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr 1:231,584,950...231,603,456
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: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome		 ClinVar PMID:15016963 PMID:15254419 PMID:15647370 PMID:15805248 PMID:15930273 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: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | 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:792966 PMID:1097835 PMID:1336932 PMID:1945792 PMID:2333580 More... RGD:1302552, RGD:12859041, RGD:12859035, RGD:12802361, RGD:12802356 NCBI chr 1:230,630,443...230,697,070
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:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 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: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
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:9467011 PMID:18456716 PMID:21194675 PMID:21926107 PMID:22382802 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 chr14:91,176,979...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: Cowden syndrome 1 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 ISS
ISO		 OMIM:158350
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1		 MouseDO
ClinVar
OMIM		 PMID:1097835 PMID:1336932 PMID:1945792 PMID:2333580 PMID:2338203 More... NCBI chr 1:230,630,443...230,697,070
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 syndrome 1 ClinVar PMID:19802898 PMID:20923864 PMID:21979946 PMID:23072324 PMID:23512077 More... 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 Gnb4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 2:115,360,746...115,400,680
Ensembl chr 2:115,364,918...115,400,579 		JBrowse link
G Kcnmb3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 2:115,255,788...115,270,142
Ensembl chr 2:115,253,761...115,270,142 		JBrowse link
G Mfn1 mitofusin 1 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's disease | ClinVar Annotator: match by term: Cowden's syndrome ClinVar PMID:9536098 PMID:15016963 PMID:15254419 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 ISS
ISO		 ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome | ClinVar Annotator: match by term: Lhermitte-Duclos disease MouseDO
ClinVar		 PMID:1336932 PMID:8071972 PMID:9140396 PMID:9241266 PMID:9259288 More... NCBI chr 1:230,630,443...230,697,070
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 syndrome | ClinVar Annotator: match by term: Cowden's 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
G Zfp639 zinc finger protein 639 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 2:115,292,431...115,305,798
Ensembl chr 2:115,292,516...115,303,628 		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 ClinVar Annotator: match by term: Cowden syndrome 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21417916 More...
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Cowden syndrome 4 ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21417916 More... NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17376864 PMID:19366826 PMID:21824802 PMID:22228622 PMID:22729222 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17611497 PMID:18256540 More... NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Zbtb42 zinc finger and BTB domain containing 42 ISO ClinVar Annotator: match by term: Cowden syndrome 6 ClinVar PMID:28492532 NCBI chr 6:131,734,257...131,742,459
Ensembl chr 6:131,738,356...131,742,685 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:19561605 PMID:19621418 PMID:20015893 PMID:20381388 More... NCBI chr 3:131,939,011...131,981,489
Ensembl chr 3:131,939,337...131,981,489 		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
Multiple Basal Cell Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:24038909 PMID:25741868 PMID:28492532 NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:22703879 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:22200646 PMID:23801933 PMID:24038909 PMID:25741868 PMID:28492532 NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854 		JBrowse link
G Smo smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		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
ISS		 DNA:missense mutation: :p.E17K (human)
CTD Direct Evidence: marker/mechanism
OMIM:176920
ClinVar Annotator: match by term: Gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly		 OMIM
CTD
MouseDO
ClinVar
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 1:230,630,443...230,697,070
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 21128
    disease of cellular proliferation 7667
      Multiple Primary Neoplasms 239
        PTEN hamartoma tumor syndrome 36
          Cerebellar Granule Cell Hypertrophy and Megalencephaly 0
          Cerebelloparenchymal Disorder VI 0
          Cowden syndrome + 12
          Cowden-Like Syndrome 0
          Graham Boyle Troxell Syndrome 0
          Multiple Basal Cell Carcinoma 4
          Proteus syndrome + 2
          Sacral Hemangiomas Multiple Congenital Abnormalities 0
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          Hereditary Neoplastic Syndromes 1279
            PTEN hamartoma tumor syndrome 36
              Cerebellar Granule Cell Hypertrophy and Megalencephaly 0
              Cerebelloparenchymal Disorder VI 0
              Cowden syndrome + 12
              Cowden-Like Syndrome 0
              Graham Boyle Troxell Syndrome 0
              Multiple Basal Cell Carcinoma 4
              Proteus syndrome + 2
              Sacral Hemangiomas Multiple Congenital Abnormalities 0
paths to the root