Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Multiple Hamartoma Syndrome
go back to main search page
Accession:DOID:9001527 term browser browse the term
Definition:A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.
Synonyms:exact_synonym: CS;   Multiple Hamartoma Syndromes;   PTEN hamartoma tumor syndrome
 narrow_synonym: CEREBELLAR GRANULE CELL HYPERTROPHY AND MEGALENCEPHALY;   CEREBELLOPARENCHYMAL DISORDER VI;   Colorectal hamartomatous polyposis and ganglioneuromatosis;   MHAM DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM;   PROTEUS-like syndrome
 primary_id: MESH:D006223
 alt_id: OMIA:001515
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Multiple Hamartoma Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
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 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 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 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
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 Efcab10 EF-hand calcium binding domain 10 JBrowse link 6 52,702,304 52,709,223 RGD:8554872
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
G Sdhd succinate dehydrogenase complex subunit D JBrowse link 8 55,028,125 55,037,604 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
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872
Multiple Basal Cell Carcinoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnh cyclin H JBrowse link 2 13,593,100 13,613,910 RGD:8554872
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
G Ptch2 patched 2 JBrowse link 5 135,962,252 135,983,816 RGD:8554872
G Rasa1 RAS p21 protein activator 1 JBrowse link 2 13,617,021 13,696,531 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
PTEN hamartoma tumor syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
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 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 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: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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      Multiple Hamartoma Syndrome 24
        Cerebellar Granule Cell Hypertrophy and Megalencephaly 0
        Cerebelloparenchymal Disorder VI 0
        Cowden syndrome + 10
        Cowden-Like Syndrome 3
        Graham Boyle Troxell Syndrome 0
        Heart Defect, Tongue Hamartoma and Polysyndactyly 0
        Multiple Basal Cell Carcinoma 4
        PTEN hamartoma tumor syndrome + 12
        Proteus syndrome + 2
        Sacral Hemangiomas Multiple Congenital Abnormalities 0
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          Hereditary Neoplastic Syndromes 745
            Multiple Hamartoma Syndrome 24
              Cerebellar Granule Cell Hypertrophy and Megalencephaly 0
              Cerebelloparenchymal Disorder VI 0
              Cowden syndrome + 10
              Cowden-Like Syndrome 3
              Graham Boyle Troxell Syndrome 0
              Heart Defect, Tongue Hamartoma and Polysyndactyly 0
              Multiple Basal Cell Carcinoma 4
              PTEN hamartoma tumor syndrome + 12
              Proteus syndrome + 2
              Sacral Hemangiomas Multiple Congenital Abnormalities 0
paths to the root

NHLBI Logo

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