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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:A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22. (DO)
Synonyms:exact_synonym: HGPS;   Hutchinson Gilford Progeria Syndrome;   Hutchinson Gilford Syndrome;   Hutchinson-Gilford Progeria Syndrome, Atypical;   Hutchinson-Gilford Progeria Syndromes;   Hutchinson-Gilford disease
 primary_id: MESH:D011371
 alt_id: OMIM:176670
 xref: EFO:0000671;   GARD:7467;   ICD10CM:E34.8;   MONDO:0020732;   NCI:C34951;   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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27217151 NCBI chr10:60,026,298...60,733,528
Ensembl chr10:60,026,298...60,733,490 		JBrowse link
G EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 ISO RGD PMID:20726853 RGD:10401221 NCBI chr 6:8,073,360...8,102,548
Ensembl chr 6:8,073,360...8,102,559 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP ClinVar Annotator: match by term: Hutchinson-Gilford syndrome ClinVar PMID:8797827 PMID:9579555 PMID:20221251 PMID:21228398 PMID:21612988 More... NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G GH1 growth hormone 1 treatment ISO
IDA		 RGD PMID:20805469 PMID:20805469 RGD:10003141, RGD:10003141 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G IGF1 insulin like growth factor 1 treatment ISO RGD PMID:20805469 RGD:10003141 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G LMNA lamin A/C ISO
IAGP
ISS
EXP		 ClinVar Annotator: match by term: Hutchinson-Gilford syndrome
OMIM:176670
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical
DNA:silent mutation:cds:c.1824C>T (human)
DNA:missense mutations:cds:multiple
DNA:missense mutation:exon:p.K542N (1626G>C) human
DNA:missense mutations, silent mutation:cds:multiple		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:262236 PMID:1849984 PMID:2007407 PMID:2526018 PMID:2733290 More... RGD:737720, RGD:12791022, RGD:10003154, RGD:10003156, RGD:10003158, RGD:10003159 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: Hutchinson-Gilford syndrome ClinVar PMID:262236 PMID:11102973 PMID:11503164 PMID:12629077 PMID:12714972 More... NCBI chr 1:156,129,902...156,131,101 JBrowse link
G LOC129931597 ATAC-STARR-seq lymphoblastoid silent region 1421 IAGP ClinVar Annotator: match by term: Hutchinson-Gilford syndrome ClinVar PMID:12920062 PMID:18414213 PMID:18795223 PMID:19318026 PMID:19424285 More...
G PYCR1 pyrroline-5-carboxylate reductase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19648921 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412 		JBrowse link
G SIRT6 sirtuin 6 ISS OMIM:176670 MouseDO NCBI chr19:4,174,109...4,182,563
Ensembl chr19:4,174,109...4,182,566 		JBrowse link
G SPRTN SprT-like N-terminal domain EXP CTD Direct Evidence: marker/mechanism CTD PMID:25261934 NCBI chr 1:231,338,293...231,355,023
Ensembl chr 1:231,337,104...231,355,023 		JBrowse link
G SUN1 Sad1 and UNC84 domain containing 1 severity ISO RGD PMID:22541428 RGD:10044242 NCBI chr 7:815,557...874,934
Ensembl chr 7:816,615...896,435 		JBrowse link
G VCPIP1 valosin containing protein interacting protein 1 ISS OMIM:176670 MouseDO NCBI chr 8:66,628,487...66,667,231
Ensembl chr 8:66,628,487...66,667,231 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 EXP
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:176670		 CTD
MouseDO		 PMID:23217256 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Congenital Progeroid Syndrome, Petty Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC112577470 Sharpr-MPRA regulatory region 7876 IAGP ClinVar Annotator: match by term: Fontaine progeroid syndrome ClinVar PMID:25741868 NCBI chr 1:108,200,127...108,200,561 JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP ClinVar Annotator: match by term: Fontaine progeroid syndrome ClinVar
OMIM		 PMID:10215548 PMID:10594888 PMID:19731360 PMID:21216154 PMID:25741868 More... NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		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 IAGP
EXP		 ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:17576681 PMID:23770608 PMID:24033266 PMID:25529843 More... NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
Mandibuloacral Dysplasia Progeroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTX2 metaxin 2 IAGP ClinVar Annotator: match by term: Mandibuloacral dysplasia progeroid syndrome
ClinVar Annotator: match by term: Progeroid mandibuloacral dysplasia		 OMIM
ClinVar		 PMID:25741868 PMID:32917887 NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025 		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 IAGP
EXP		 ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:21549337 PMID:23720404 PMID:28492532 NCBI chr11:66,002,079...66,004,149
Ensembl chr11:66,002,228...66,004,149 		JBrowse link
G EIF1AD eukaryotic translation initiation factor 1A domain containing IAGP ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chr11:65,996,545...66,002,157
Ensembl chr11:65,996,545...66,002,176 		JBrowse link
G LOC130006089 ATAC-STARR-seq lymphoblastoid active region 5025 IAGP ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chr11:66,001,855...66,002,224 JBrowse link
G LOC130006090 ATAC-STARR-seq lymphoblastoid silent region 3569 IAGP ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chr11:66,002,525...66,002,864 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 IAGP
EXP		 ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9056558 PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 More... NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		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 IAGP ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, childhood-onset ClinVar PMID:11015599 PMID:11503164 PMID:11792811 PMID:12629077 PMID:12927431 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, childhood-onset ClinVar PMID:11015599 PMID:11503164 PMID:11792811 PMID:12629077 PMID:12927431 More... NCBI chr 1:156,129,902...156,131,101 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 IAGP
EXP		 ClinVar Annotator: match by term: Progeroid features-hepatocellular carcinoma predisposition syndrome
ClinVar Annotator: match by term: Progeroid features-hepatocellular carcinoma predisposition syndrome | ClinVar Annotator: match by term: Ruijs-Aalfs syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:12503110 PMID:25261934 PMID:25741868 NCBI chr 1:231,338,293...231,355,023
Ensembl chr 1:231,337,104...231,355,023 		JBrowse link
Wiedemann-Rautenstrauch syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome ClinVar PMID:16786509 PMID:28492532 PMID:29101475 PMID:30450527 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G LOC126860970 BRD4-independent group 4 enhancer GRCh37_chr10:79743812-79745011 IAGP ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome ClinVar PMID:16199547 PMID:21855841 PMID:25339210 PMID:25741868 PMID:27612211 More... NCBI chr10:77,984,054...77,985,253 JBrowse link
G LOC126860971 CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:79784551-79785750 IAGP ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome ClinVar PMID:25741868 PMID:30414627 NCBI chr10:78,024,793...78,025,992 JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome | ClinVar Annotator: match by term: POLR3A-related disorders
ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome | ClinVar Annotator: match by term: POLR3A-related disorders | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome
ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome		 OMIM
ClinVar		 PMID:614258 PMID:12605447 PMID:16007586 PMID:16199547 PMID:19938095 More... NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 IAGP ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome ClinVar PMID:4076251 PMID:16199547 PMID:16233902 PMID:18348262 PMID:19648921 More... NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18073
      progeroid syndrome 36
        progeria 27
          Acrogeria, Gottron Type 0
          Bird Headed Dwarfism Montreal Type 0
          Congenital Progeroid Syndrome, Petty Type 2
          Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
          Mandibuloacral Dysplasia 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 + 6
          Progeroid Facial Appearance with Hand Anomalies 0
          Ruijs-Aalfs syndrome 1
          Ruvalcaba Churesigaew Myhre Syndrome 0
          Wiedemann-Rautenstrauch syndrome 5
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18509
            autosomal genetic disease 16779
              autosomal dominant disease 10884
                progeria 27
                  Acrogeria, Gottron Type 0
                  Bird Headed Dwarfism Montreal Type 0
                  Congenital Progeroid Syndrome, Petty Type 2
                  Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
                  Mandibuloacral Dysplasia 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 + 6
                  Progeroid Facial Appearance with Hand Anomalies 0
                  Ruijs-Aalfs syndrome 1
                  Ruvalcaba Churesigaew Myhre Syndrome 0
                  Wiedemann-Rautenstrauch syndrome 5
paths to the root