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

ONTOLOGY REPORT - ANNOTATIONS


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;   ORDO:213
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
cystinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctns cystinosin, lysosomal cystine transporter JBrowse link 10 59,749,250 59,772,475 RGD:1601022
RGD:8554872
RGD:12910936
RGD:12910868
RGD:12910866
RGD:11064664
RGD:12910865
RGD:11554173
RGD:7240710
G Shpk sedoheptulokinase JBrowse link 10 59,765,328 59,789,676 RGD:8554872
G Tax1bp3 Tax1 binding protein 3 JBrowse link 10 59,743,356 59,748,063 RGD:8554872
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 JBrowse link 10 59,799,123 59,824,208 RGD:8554872
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctns cystinosin, lysosomal cystine transporter JBrowse link 10 59,749,250 59,772,475 RGD:7240710
RGD:8554872
G Shpk sedoheptulokinase JBrowse link 10 59,765,328 59,789,676 RGD:8554872
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 JBrowse link 10 59,799,123 59,824,208 RGD:8554872
Cystinosis, Ocular Nonnephropathic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctns cystinosin, lysosomal cystine transporter JBrowse link 10 59,749,250 59,772,475 RGD:7240710
RGD:8554872
RGD:12910937
G Shpk sedoheptulokinase JBrowse link 10 59,765,328 59,789,676 RGD:8554872
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 JBrowse link 10 59,799,123 59,824,208 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          lysosomal storage disease 409
            cystinosis 4
              Abderhalden-Kaufmann-Lignac Syndrome 0
              Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 3
              Cystinosis, Ocular Nonnephropathic 3
              Infantile Nephropathic Cystinosis 0
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                cystinosis 4
                  Abderhalden-Kaufmann-Lignac Syndrome 0
                  Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 3
                  Cystinosis, Ocular Nonnephropathic 3
                  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.