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Term:Peutz-Jeghers syndrome
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Accession:DOID:3852 term browser browse the term
Definition:A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
Synonyms:exact_synonym: Colonic hamartomatous polyp;   Hamartomatous Intestinal Polyposes;   Hamartomatous Intestinal Polyposis;   PJS;   Perioral Lentiginoses;   Perioral Lentiginosis;   Periorificial Lentiginosis Syndrome;   Periorificial Lentiginosis Syndromes;   Peutz Jegher's Syndrome;   Peutz Jeghers Polyposis;   Peutz Jeghers colon polyp;   Peutz Jeghers polyp;   Peutz-Jegher Syndrome;   Peutz-Jeghers polyp of small Intestine;   Polyps and Spots Syndrome;   Polyps-and-Spots Syndromes;   gastric Peutz-Jeghers polyp;   peutz-jeghers small bowel hamartoma
 primary_id: MESH:D010580;   RDO:0006334
 alt_id: OMIM:175200
 xref: GARD:7378;   NCI:C3324;   NCI:C4733;   NCI:C7755;   ORDO:2869
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Peutz-Jeghers syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca7 ATP binding cassette subfamily A member 7 JBrowse link 7 12,742,433 12,762,423 RGD:8554872
G Arhgap45 Rho GTPase activating protein 45 JBrowse link 7 12,541,032 12,741,314 RGD:8554872
G Arid3a AT-rich interaction domain 3A JBrowse link 7 12,573,604 12,602,407 RGD:8554872
G Cbarp CACN subunit beta associated regulatory protein JBrowse link 7 12,433,422 12,441,048 RGD:8554872
G Cfd complement factor D JBrowse link 7 12,634,216 12,635,939 RGD:8554872
G Cnn2 calponin 2 JBrowse link 7 12,782,459 12,787,977 RGD:8554872
G Defa5 defensin alpha 5 JBrowse link 16 75,338,050 75,340,401 RGD:11554173
G Elane elastase, neutrophil expressed JBrowse link 7 12,638,320 12,640,168 RGD:8554872
G Gpx4 glutathione peroxidase 4 JBrowse link 7 12,516,357 12,519,154 RGD:8554872
G Grin3b glutamate ionotropic receptor NMDA type subunit 3B JBrowse link 7 12,764,993 12,771,310 RGD:8554872
G Kiss1r KISS1 receptor JBrowse link 7 12,606,210 12,609,868 RGD:8554872
G Med16 mediator complex subunit 16 JBrowse link 7 12,619,739 12,632,241 RGD:8554872
G Polr2e RNA polymerase II subunit E JBrowse link 7 12,532,785 12,536,797 RGD:8554872
G R3hdm4 R3H domain containing 4 JBrowse link 7 12,611,476 12,618,586 RGD:8554872
G Sbno2 strawberry notch homolog 2 JBrowse link 7 12,471,805 12,515,700 RGD:8554872
G Stk11 serine/threonine kinase 11 JBrowse link 7 12,440,751 12,457,513 RGD:1600691
G Tmem259 transmembrane protein 259 JBrowse link 7 12,771,239 12,777,901 RGD:8554872
G Wdr18 WD repeat domain 18 JBrowse link 7 12,561,318 12,569,120 RGD:8554872

Term paths to the root
Path 1
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  disease 15639
    syndrome 5218
      Peutz-Jeghers syndrome 18
Path 2
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  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        sensory system disease 4697
          skin disease 2472
            pigmentation disease 213
              Hyperpigmentation 45
                Melanosis 35
                  Lentigo 27
                    Peutz-Jeghers syndrome 18
paths to the root


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