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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: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
 xref: GARD:7467;   ICD10CM:E34.8;   NCI:C34951;   OMIM:PS176670;   ORDO:740
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
progeria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27217151 NCBI chr20:19,948,767...20,480,628
Ensembl chr20:20,105,047...20,480,623
JBrowse link
G Eef1e1 eukaryotic translation elongation factor 1 epsilon 1 ISO RGD PMID:20726853 RGD:10401221 NCBI chr17:26,785,017...26,795,723
Ensembl chr17:26,785,029...26,797,161
JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Hutchinson-Gilford syndrome ClinVar PMID:8797827, PMID:9579555, PMID:20221251, PMID:21612988, PMID:23623389, PMID:24033266, PMID:24728327, PMID:25741868, PMID:26074087, PMID:27356891, PMID:27528516, PMID:28431612, PMID:28492532, PMID:28678401, PMID:28767289, PMID:29105242, PMID:29403087, PMID:29892709 NCBI chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891
JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:20805469, PMID:20805469 RGD:10003141, RGD:10003141 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO RGD PMID:20805469 RGD:10003141 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Hutchinson-Gilford syndrome
CTD Direct Evidence: marker/mechanism
DNA:silent mutation:cds:c.1824C>T (human)
ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical
ClinVar Annotator: match by OMIM:176670
DNA:missense mutations, silent mutation:cds:multiple
DNA:missense mutation:exon:p.K542N (1626G>C) human
DNA:missense mutations:cds:multiple
ClinVar Annotator: match by term: Hutchinson Gilford progeria syndrome
OMIM
ClinVar
CTD
PMID:1849984, PMID:10080180, PMID:10612827, PMID:10655060, PMID:10739764, PMID:10939567, PMID:11503164, PMID:11792809, PMID:11799477, PMID:11901143, PMID:12075506, PMID:12467734, PMID:12629077, PMID:12702809, PMID:12714972, PMID:12768443, PMID:12920062, PMID:12927431, PMID:14597414, PMID:14607793, PMID:14615128, PMID:14627682, PMID:14659775, PMID:14684700, PMID:14749366, PMID:15032975, PMID:15121795, PMID:15140538, PMID:15184648, PMID:15205219, PMID:15317753, PMID:15342704, PMID:15475483, PMID:15726408, PMID:15793835, PMID:15982412, PMID:15998779, PMID:16126733, PMID:16174718, PMID:16440304, PMID:16738054, PMID:17076270, PMID:17274801, PMID:17347251, PMID:17377071, PMID:17459035, PMID:17469202, PMID:17536044, PMID:17711925, PMID:18396274, PMID:18414213, PMID:18549403, PMID:18795223, PMID:18796515, PMID:19084400, PMID:19172989, PMID:19318026, PMID:19424285, PMID:19427440, PMID:19432833, PMID:19589617, PMID:19638735, PMID:19680556, PMID:19842191, PMID:20301609, PMID:20376791, PMID:20662858, PMID:20848652, PMID:20980393, PMID:21173262, PMID:21520333, PMID:21875900, PMID:22065502, PMID:22148005, PMID:22224630, PMID:22266370, PMID:22326558, PMID:22331516, PMID:22464770, PMID:22611635, PMID:22685055, PMID:22893709, PMID:22918509, PMID:23141186, PMID:23183350, PMID:23217256, PMID:23328570, PMID:23349452, PMID:23427149, PMID:23497705, PMID:23659872, PMID:23666920, PMID:23804595, PMID:23853504, PMID:23861362, PMID:23969228, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24305605, PMID:24375749, PMID:24503780, PMID:24623722, PMID:24639906, PMID:24642510, PMID:24687084, PMID:24721642, PMID:24768879, PMID:24846508, PMID:25214167, PMID:25286833, PMID:25326635, PMID:25567453, PMID:25637381, PMID:25649378, PMID:25741868, PMID:25946677, PMID:25982065, PMID:26165385, PMID:26183555, PMID:26332594, PMID:26467025, PMID:26602028, PMID:26752647, PMID:27199538, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27813223, PMID:27854218, PMID:27896052, PMID:27919367, PMID:28074886, PMID:28229933, PMID:28255936, PMID:28492532, PMID:28531892, PMID:28663758, PMID:28679633, PMID:28785654, PMID:29040816, PMID:29149195, PMID:29237675, PMID:29791652, PMID:30165862, PMID:30311386, PMID:12702809, PMID:12768443, PMID:15608054, PMID:15286156, PMID:19875478, PMID:12748643 RGD:12791022, RGD:10003159, RGD:10003158, RGD:10003156, RGD:10003154, RGD:737720 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19648921 NCBI chr10:109,817,300...109,822,218
Ensembl chr10:109,818,177...109,821,807
JBrowse link
G Sirt6 sirtuin 6 ISS OMIM:176670 MouseDO NCBI chr 7:10,937,622...10,943,048
Ensembl chr 7:10,937,599...10,943,063
JBrowse link
G Sprtn SprT-like N-terminal domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25261934 NCBI chr19:57,649,901...57,657,158
Ensembl chr19:57,650,163...57,654,864
JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 severity ISO RGD PMID:22541428 RGD:10044242 NCBI chr12:17,488,482...17,533,334
Ensembl chr12:17,488,487...17,522,534
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23217256 NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pold1 DNA polymerase delta 1, catalytic subunit ISO OMIM NCBI chr 1:100,538,066...100,554,105
Ensembl chr 1:100,537,900...100,554,488
JBrowse link
Neonatal Progeroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome
ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome
OMIM
ClinVar
PMID:12605447, PMID:16007586, PMID:19938095, PMID:21855841, PMID:25741868, PMID:25898808, PMID:27612211, PMID:28459997, PMID:28492532, PMID:30323018, PMID:30414627, PMID:30450527, PMID:30847471, PMID:31637490 NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
JBrowse link
Nestor-Guillermo Progeria Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Banf1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome
ClinVar Annotator: match by OMIM:614008
OMIM
ClinVar
PMID:21549337, PMID:23720404, PMID:28492532 NCBI chr 1:220,744,195...220,746,224
Ensembl chr 1:220,744,195...220,746,224
JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chr 1:220,746,387...220,751,687
Ensembl chr 1:220,746,387...220,751,684
JBrowse link
Penttinen-Aula Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type OMIM
ClinVar
PMID:9056558, PMID:23720404, PMID:23731537, PMID:23731542, PMID:25158255, PMID:25741868, PMID:26279204, PMID:26455322, PMID:28183292, PMID:28334876, PMID:28492532, PMID:30311386 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
Progeria Syndrome, Childhood-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Progeria syndrome, childhood-onset
ClinVar Annotator: match by term: Hutchinson-gilford progeria syndrome, childhood-onset
ClinVar PMID:11015599, PMID:11503164, PMID:11792811, PMID:12927431, PMID:14615128, PMID:16174718 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
Progeroid Syndrome, Congenital, Petty Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Progeroid syndrome, congenital, petty type ClinVar
OMIM
PMID:10215548, PMID:10594888, PMID:19731360, PMID:21216154, PMID:25741868, PMID:29100093, PMID:29100094 NCBI chr 2:211,930,371...211,967,511
Ensembl chr 2:211,930,326...211,967,505
JBrowse link
Ruijs-Aalfs syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sprtn SprT-like N-terminal domain ISO ClinVar Annotator: match by term: RUIJS-AALFS SYNDROME
ClinVar Annotator: match by OMIM:616200
ClinVar
OMIM
PMID:12503110, PMID:25261934 NCBI chr19:57,649,901...57,657,158
Ensembl chr19:57,650,163...57,654,864
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      progeria 17
        Acrogeria, Gottron Type 0
        Bird Headed Dwarfism Montreal Type 0
        Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
        Neonatal Progeroid 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
        Ruijs-Aalfs syndrome 1
        Ruvalcaba Churesigaew Myhre Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              progeria 17
                Acrogeria, Gottron Type 0
                Bird Headed Dwarfism Montreal Type 0
                Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
                Neonatal Progeroid 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
                Ruijs-Aalfs syndrome 1
                Ruvalcaba Churesigaew Myhre Syndrome 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.