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ONTOLOGY REPORT - ANNOTATIONS


Term:homocystinuria
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Accession:DOID:9263 term browser browse the term
Definition:Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
Synonyms:exact_synonym: CBS Deficiencies;   CBS Deficiency;   Cystathionine Beta Synthase Deficiency;   Cystathionine beta Synthase Deficiency Disease;   HOMOCYSTINURIA DUE TO CBS DEFICIENCY;   HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY;   HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE;   Homocystinuria, Pyridoxine-Nonresponsive;   Hyperhomocysteinemia, Thrombotic, CBS-Related;   cystathionine synthase deficiency
 narrow_synonym: CBS Deficiency Hyperhomocysteinemia, Thrombotic, CBS-Related;   HOMOCYSTINURIA WITHOUT METHYLMALONIC ACIDURIA
 primary_id: MESH:D006712;   RDO:0003188
 alt_id: OMIM:236200
 xref: GARD:10770;   ICD10CM:E72.11;   NCI:C84765;   ORDO:394
For additional species annotation, visit the Alliance of Genome Resources.


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homocystinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:1600622
RGD:8554872
RGD:7240710
G Fcrl2 Fc receptor-like 2 JBrowse link 2 186,594,442 186,605,115 RGD:1601421
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:1601421
RGD:13592920
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:5508189
RGD:8554872
RGD:11554173
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:8554872
Homocystinuria, Pyridoxine-Responsive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:7240710
RGD:8554872
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:7240710
RGD:8554872
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmachc metabolism of cobalamin associated C JBrowse link 5 135,555,587 135,561,723 RGD:7240710
RGD:8554872
G Prdx1 peroxiredoxin 1 JBrowse link 5 135,536,413 135,551,986 RGD:8554872
RGD:7240710
Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd4 ATP binding cassette subfamily D member 4 JBrowse link 6 108,315,026 108,329,550 RGD:7240710
RGD:8554872
Mthfr Deficiency, Thermolabile Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      Skin and Connective Tissue Diseases 4232
        connective tissue disease 2797
          homocystinuria 8
            Homocystinuria, Pyridoxine-Responsive 1
            Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 1
            Methylenetetrahydrofolate Reductase Deficiency 1
            Methylmalonic Aciduria and Homocystinuria, cblJ Type 1
            Mthfr Deficiency, Thermolabile Type 1
            methylmalonic aciduria and homocystinuria type cblC 2
Path 2
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        acquired metabolic disease 2710
          nutrition disease 847
            Malnutrition 176
              nutritional deficiency disease 169
                Avitaminosis 105
                  Vitamin B Deficiency 64
                    hyperhomocysteinemia 44
                      homocystinuria 8
                        Homocystinuria, Pyridoxine-Responsive 1
                        Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 1
                        Methylenetetrahydrofolate Reductase Deficiency 1
                        Methylmalonic Aciduria and Homocystinuria, cblJ Type 1
                        Mthfr Deficiency, Thermolabile Type 1
                        methylmalonic aciduria and homocystinuria type cblC 2
paths to the root

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