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 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
 primary_id: MESH:D006712;   RDO:0003188
 alt_id: OMIM:236200
 xref: GARD:10770;   ORDO:394
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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:11554173
G Pkhd1 PKHD1, 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 Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Mmachc metabolism of cobalamin associated C JBrowse link 5 135,555,587 135,561,723 RGD:7240710
RGD:8554872
G Msh6 mutS homolog 6 JBrowse link 6 11,644,565 11,662,389 RGD:8554872
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 19 19,342,061 19,389,366 RGD:8554872
G Prdx1 peroxiredoxin 1 JBrowse link 5 135,536,413 135,551,986 RGD:8554872
RGD:7240710
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
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
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Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          homocystinuria 13
            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 7
Path 2
Term Annotations click to browse term
  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        acquired metabolic disease 2671
          nutrition disease 832
            Malnutrition 182
              nutritional deficiency disease 175
                Avitaminosis 114
                  Vitamin B Deficiency 70
                    hyperhomocysteinemia 49
                      homocystinuria 13
                        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 7
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.