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ONTOLOGY REPORT - ANNOTATIONS


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
 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 JBrowse Chr Start Stop Reference
G Acta2 actin alpha 2, smooth muscle JBrowse link 1 252,537,614 252,550,394 RGD:8554872
G Ankrd22 ankyrin repeat domain 22 JBrowse link 1 252,430,750 252,461,346 RGD:8554872
G Atad1 ATPase family, AAA domain containing 1 JBrowse link 1 251,234,702 251,386,996 RGD:8554872
G Bmpr1a bone morphogenetic protein receptor type 1A JBrowse link 16 10,758,278 10,852,170 RGD:8554872
G Fam25a family with sequence similarity 25, member A JBrowse link 16 10,702,264 10,706,073 RGD:8554872
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
G Glud1 glutamate dehydrogenase 1 JBrowse link 16 10,661,486 10,695,557 RGD:8554872
G Klln killin, p53-regulated DNA replication inhibitor JBrowse link 1 251,417,849 251,420,794 RGD:8554872
G Lipf lipase F, gastric type JBrowse link 1 252,284,464 252,302,811 RGD:8554872
G Lipk lipase, family member K JBrowse link 1 252,323,865 252,355,893 RGD:8554872
G Lipm lipase, family member M JBrowse link 1 252,409,232 252,428,567 RGD:8554872
G Lipn lipase, family member N JBrowse link 1 252,375,941 252,394,226 RGD:8554872
G Minpp1 multiple inositol-polyphosphate phosphatase 1 JBrowse link 1 251,045,352 251,071,045 RGD:8554872
G Mmrn2 multimerin 2 JBrowse link 16 10,727,552 10,749,303 RGD:8554872
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 JBrowse link 1 251,145,264 251,230,716 RGD:8554872
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:1302552
RGD:8554872
RGD:11554173
RGD:12859041
RGD:12859035
RGD:12802361
RGD:12802356
G Rnls renalase, FAD-dependent amine oxidase JBrowse link 1 251,828,285 252,101,963 RGD:8554872
G Shld2 shieldin complex subunit 2 JBrowse link 16 10,570,307 10,661,528 RGD:8554872
G Sncg synuclein, gamma JBrowse link 16 10,722,110 10,726,648 RGD:8554872
G Stambpl1 STAM binding protein-like 1 JBrowse link 1 252,490,125 252,536,113 RGD:8554872
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
RGD:13592920
Cowden syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Egfr epidermal growth factor receptor JBrowse link 14 99,919,485 100,104,136 RGD:8554872
G Klln killin, p53-regulated DNA replication inhibitor JBrowse link 1 251,417,849 251,420,794 RGD:8554872
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
RGD:7240710
G Rint1 RAD50 interactor 1 JBrowse link 4 7,851,602 7,885,446 RGD:8554872
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872
Cowden Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klln killin, p53-regulated DNA replication inhibitor JBrowse link 1 251,417,849 251,420,794 RGD:7240710
Cowden Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:7240710
RGD:8554872
Cowden Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:8554872
RGD:7240710
Cowden Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sec23b Sec23 homolog B, COPII coat complex component JBrowse link 3 138,715,118 138,757,111 RGD:8554872
RGD:7240710
Cowden-Like Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
Macrocephaly Mesodermal Hamartoma Spectrum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:8554872
Proteus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:5509063
RGD:8554872
RGD:7240710
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    disease of cellular proliferation 5888
      Multiple Primary Neoplasms 141
        PTEN hamartoma tumor syndrome 26
          Bannayan-Riley-Ruvalcaba syndrome 2
          Cerebellar Granule Cell Hypertrophy and Megalencephaly 0
          Cerebelloparenchymal Disorder VI 0
          Cowden syndrome + 8
          Cowden-Like Syndrome 2
          Graham Boyle Troxell Syndrome 0
          Heart Defect, Tongue Hamartoma and Polysyndactyly 0
          Multiple Basal Cell Carcinoma 0
          Proteus syndrome + 2
          Sacral Hemangiomas Multiple Congenital Abnormalities 0
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          Hereditary Neoplastic Syndromes 802
            PTEN hamartoma tumor syndrome 26
              Bannayan-Riley-Ruvalcaba syndrome 2
              Cerebellar Granule Cell Hypertrophy and Megalencephaly 0
              Cerebelloparenchymal Disorder VI 0
              Cowden syndrome + 8
              Cowden-Like Syndrome 2
              Graham Boyle Troxell Syndrome 0
              Heart Defect, Tongue Hamartoma and Polysyndactyly 0
              Multiple Basal Cell Carcinoma 0
              Proteus syndrome + 2
              Sacral Hemangiomas Multiple Congenital Abnormalities 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.