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

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:cystinosis
go back to main search page
Accession:DOID:1064 term browser browse the term
Definition:A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.
Synonyms:exact_synonym: CTNS;   Cystine Diathesis;   Cystine Disease;   Cystine Diseases;   Cystine Storage Disease;   Cystine Storage Diseases;   Cystinoses;   Defect of Cystinosin;   Defect of Cystinosins;   Lysosomal Cystine Transport Protein, Defect Of;   Nephropathic Cystinoses;   cystine diatheses;   nephropathic cystinosis
 narrow_synonym: CYSTINOSIN, DEFECT OF CYSTINOSIS, INFANTILE NEPHROPATHIC;   CYSTINOSIS, ATYPICAL NEPHROPATHIC
 primary_id: MESH:D003554
 alt_id: OMIM:219800;   RDO:0000092
 xref: GARD:6236;   NCI:C129932;   NCI:C2976;   ORDO:213
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cystinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctns cystinosin, lysosomal cystine transporter susceptibility
treatment
ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Nephropathic cystinosis
ClinVar Annotator: match by term: Cystinosin, defect of
ClinVar Annotator: match by term: Cystinosis
DNA:missense mutation:cds:p.G339R (human)
human gene in a mouse model
DNA:deletion:exons, introns (human)
ClinVar Annotator: match by OMIM:219800
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LYSOSOMAL CYSTINE TRANSPORT PROTEIN, DEFECT OF
ClinVar Annotator: match by synonym: Cystinosis, atypical nephropathic
ClinVar
CTD
OMIM
PMID:9537412, PMID:9792862, PMID:10482956, PMID:10556299, PMID:10571941, PMID:10625078, PMID:10673275, PMID:11505338, PMID:11562417, PMID:11565547, PMID:11689434, PMID:11708862, PMID:11855931, PMID:12110740, PMID:12204010, PMID:12442267, PMID:12644911, PMID:12825071, PMID:15128704, PMID:15365816, PMID:15879904, PMID:18178779, PMID:18186520, PMID:18752449, PMID:19580442, PMID:19852576, PMID:19863563, PMID:21305353, PMID:21546516, PMID:21786142, PMID:21963264, PMID:22232659, PMID:22450360, PMID:22528245, PMID:22664570, PMID:23640116, PMID:24033266, PMID:24123366, PMID:24464559, PMID:25326109, PMID:25741868, PMID:26266097, PMID:26489029, PMID:26565940, PMID:27102039, PMID:27451386, PMID:27533158, PMID:27625850, PMID:27734949, PMID:27858370, PMID:28122645, PMID:28238446, PMID:28276207, PMID:28405942, PMID:28492532, PMID:28649545, PMID:28893421, PMID:29421779, PMID:29467429, PMID:30554218, PMID:30949462, PMID:9537412, PMID:11565547, PMID:12370309, PMID:18578013, PMID:9792862, PMID:10068513 RGD:1601022, RGD:12910936, RGD:12910868, RGD:12910866, RGD:11064664, RGD:12910865 NCBI chr10:59,749,250...59,772,475
Ensembl chr10:59,749,256...59,764,868
JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: Nephropathic cystinosis ClinVar PMID:9537412, PMID:9792862, PMID:10625078, PMID:10673275, PMID:12110740, PMID:15365816, PMID:18186520, PMID:19863563, PMID:27734949 NCBI chr10:59,765,328...59,789,676
Ensembl chr10:59,765,258...59,789,678
JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Nephropathic cystinosis ClinVar NCBI chr10:59,743,356...59,748,063
Ensembl chr10:59,743,544...59,748,062
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: Cystinosis
ClinVar Annotator: match by term: Nephropathic cystinosis
ClinVar PMID:9537412, PMID:9792862, PMID:10625078, PMID:10673275, PMID:12110740, PMID:15365816, PMID:18186520, PMID:19863563, PMID:21546516, PMID:27734949 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
JBrowse link
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
ClinVar Annotator: match by OMIM:219900
OMIM
ClinVar
PMID:9537412, PMID:9792862, PMID:10444339, PMID:10482956, PMID:10556299, PMID:10571941, PMID:10625078, PMID:10673275, PMID:11505338, PMID:11562417, PMID:11565547, PMID:11689434, PMID:11708862, PMID:11855931, PMID:12110740, PMID:12204010, PMID:12442267, PMID:12825071, PMID:15128704, PMID:15365816, PMID:18178779, PMID:18186520, PMID:18752449, PMID:19852576, PMID:19863563, PMID:21546516, PMID:21786142, PMID:22450360, PMID:22664570, PMID:23640116, PMID:24123366, PMID:24464559, PMID:25326109, PMID:25741868, PMID:26266097, PMID:27102039, PMID:27533158, PMID:27625850, PMID:27734949, PMID:27858370, PMID:28276207, PMID:28405942, PMID:28492532, PMID:28649545, PMID:28893421, PMID:29467429, PMID:30949462 NCBI chr10:59,749,250...59,772,475
Ensembl chr10:59,749,256...59,764,868
JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:9537412, PMID:9792862, PMID:10625078, PMID:10673275, PMID:12110740, PMID:15365816, PMID:18186520, PMID:19863563, PMID:27734949 NCBI chr10:59,765,328...59,789,676
Ensembl chr10:59,765,258...59,789,678
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:9537412, PMID:9792862, PMID:10625078, PMID:10673275, PMID:12110740, PMID:15365816, PMID:18186520, PMID:19863563, PMID:27734949 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
JBrowse link
Cystinosis, Ocular Nonnephropathic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic
ClinVar Annotator: match by OMIM:219750
DNA:deletions, snps, missense mutation:multiple (human)
ClinVar Annotator: match by term: Cystinosis, ocular nonnephropathic
OMIM
ClinVar
PMID:9537412, PMID:9792862, PMID:10482956, PMID:10556299, PMID:10571941, PMID:10625078, PMID:10673275, PMID:11505338, PMID:11562417, PMID:11565547, PMID:11689434, PMID:11708862, PMID:11855931, PMID:12110740, PMID:12204010, PMID:12442267, PMID:12825071, PMID:15128704, PMID:15365816, PMID:18178779, PMID:18186520, PMID:18752449, PMID:19852576, PMID:19863563, PMID:21546516, PMID:21786142, PMID:22450360, PMID:22664570, PMID:23640116, PMID:24033266, PMID:24123366, PMID:24464559, PMID:25326109, PMID:25741868, PMID:26266097, PMID:27102039, PMID:27533158, PMID:27625850, PMID:27734949, PMID:27858370, PMID:28276207, PMID:28405942, PMID:28492532, PMID:28649545, PMID:28893421, PMID:29467429, PMID:30949462, PMID:10625078 RGD:12910937 NCBI chr10:59,749,250...59,772,475
Ensembl chr10:59,749,256...59,764,868
JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic ClinVar PMID:9537412, PMID:9792862, PMID:10625078, PMID:10673275, PMID:12110740, PMID:15365816, PMID:18186520, PMID:19863563, PMID:27734949 NCBI chr10:59,765,328...59,789,676
Ensembl chr10:59,765,258...59,789,678
JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic ClinVar NCBI chr10:59,743,356...59,748,063
Ensembl chr10:59,743,544...59,748,062
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic ClinVar PMID:9537412, PMID:9792862, PMID:10625078, PMID:10673275, PMID:12110740, PMID:15365816, PMID:18186520, PMID:19863563, PMID:27734949 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          lysosomal storage disease 527
            cystinosis 4
              Abderhalden-Kaufmann-Lignac Syndrome 0
              Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 3
              Cystinosis, Ocular Nonnephropathic 4
              Infantile Nephropathic Cystinosis 0
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                cystinosis 4
                  Abderhalden-Kaufmann-Lignac Syndrome 0
                  Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 3
                  Cystinosis, Ocular Nonnephropathic 4
                  Infantile Nephropathic Cystinosis 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.