ONTOLOGY REPORT - ANNOTATIONS


Term:progeria
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Accession:DOID:3911 term browser browse the term
Definition:An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.
Synonyms:exact_synonym: HGPS;   Hutchinson Gilford Progeria Syndrome;   Hutchinson Gilford Syndrome;   Hutchinson-Gilford Progeria Syndrome, Atypical;   Hutchinson-Gilford Progeria Syndromes;   Hutchinson-Gilford disease
 narrow_synonym: PROGERIA PROGERIA SYNDROME, CHILDHOOD-ONSET
 primary_id: MESH:D011371
 alt_id: OMIM:176670;   RDO:0000566
 xref: GARD:7467;   OMIM:PS176670
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progeria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ank3 ankyrin 3 JBrowse link 20 19,948,767 20,480,628 RGD:11554173
G Eef1e1 eukaryotic translation elongation factor 1 epsilon 1 JBrowse link 17 26,785,017 26,795,723 RGD:10401221
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:10003141
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:10003141
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:7240710
RGD:8554872
RGD:11554173
RGD:12791022
RGD:10003159
RGD:10003158
RGD:10003156
RGD:10003154
RGD:737720
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link 10 109,817,300 109,822,218 RGD:11554173
G Sirt6 sirtuin 6 JBrowse link 7 10,937,622 10,943,048 RGD:13592920
G Sprtn SprT-like N-terminal domain JBrowse link 19 57,649,901 57,657,158 RGD:11554173
G Sun1 Sad1 and UNC84 domain containing 1 JBrowse link 12 17,488,482 17,533,334 RGD:10044242
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 RGD:11554173
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pold1 DNA polymerase delta 1, catalytic subunit JBrowse link 1 100,538,066 100,554,105 RGD:7240710
RGD:8554872
Nestor-Guillermo Progeria Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Banf1 barrier to autointegration factor 1 JBrowse link 1 220,744,195 220,746,224 RGD:7240710
RGD:8554872
G Eif1ad eukaryotic translation initiation factor 1A domain containing JBrowse link 1 220,746,387 220,751,687 RGD:8554872
Penttinen-Aula Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdgfrb platelet derived growth factor receptor beta JBrowse link 18 56,364,586 56,406,381 RGD:7240710
RGD:8554872
Progeria Syndrome, Childhood-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
Progeroid Syndrome, Congenital, Petty Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a24 solute carrier family 25 member 24 JBrowse link 2 211,930,371 211,967,511 RGD:8554872
RGD:7240710
Ruijs-Aalfs Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sprtn SprT-like N-terminal domain JBrowse link 19 57,649,901 57,657,158 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    Diseases of the Aged 1152
      Premature Aging 64
        progeria 15
          Acrogeria, Gottron Type 0
          Bird Headed Dwarfism Montreal Type 0
          Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
          Penttinen-Aula Syndrome 1
          Petty Laxova Wiedemann Syndrome 0
          Premature Aging Syndrome, Okamoto Type 0
          Progeria Short Stature Pigmented Nevi 0
          Progeria Syndrome, Childhood-Onset + 3
          Progeroid Facial Appearance with Hand Anomalies 0
          Progeroid Syndrome, Congenital, Petty Type 1
          Progeroid Syndrome, Neonatal 0
          Ruijs-Aalfs Syndrome 1
          Ruvalcaba Churesigaew Myhre Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            autosomal genetic disease 2140
              autosomal recessive disease 1257
                progeria 15
                  Acrogeria, Gottron Type 0
                  Bird Headed Dwarfism Montreal Type 0
                  Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
                  Penttinen-Aula Syndrome 1
                  Petty Laxova Wiedemann Syndrome 0
                  Premature Aging Syndrome, Okamoto Type 0
                  Progeria Short Stature Pigmented Nevi 0
                  Progeria Syndrome, Childhood-Onset + 3
                  Progeroid Facial Appearance with Hand Anomalies 0
                  Progeroid Syndrome, Congenital, Petty Type 1
                  Progeroid Syndrome, Neonatal 0
                  Ruijs-Aalfs Syndrome 1
                  Ruvalcaba Churesigaew Myhre Syndrome 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.