ONTOLOGY REPORT - ANNOTATIONS


Term:hyperhomocysteinemia
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Accession:DOID:9279 term browser browse the term
Definition:Condition in which the plasma levels of homocysteine and related metabolites are elevated (>13.9 µmol/l). Hyperhomocysteinemia can be familial or acquired. Development of the acquired hyperhomocysteinemia is mostly associated with vitamins B and/or folate deficiency (e.g., PERNICIOUS ANEMIA, vitamin malabsorption). Familial hyperhomocysteinemia often results in a more severe elevation of total homocysteine and excretion into the urine, resulting in HOMOCYSTINURIA. Hyperhomocysteinemia is a risk factor for cardiovascular and neurodegenerative diseases, osteoporotic fractures and complications during pregnancy.
Synonyms:exact_synonym: HOMOCYSTEINE, TOTAL PLASMA, ELEVATED;   Homocysteinemia;   Hyperhomocysteinemias
 primary_id: MESH:C566403;   MESH:D020138;   RDO:0000510
 alt_id: OMIM:603174;   RDO:0014767
For additional species annotation, visit the Alliance of Genome Resources.


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hyperhomocysteinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahcy adenosylhomocysteinase JBrowse link 3 150,587,833 150,603,057 RGD:1598896
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:6903856
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 2 204,003,742 204,032,023 RGD:11576285
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 13 90,651,682 90,676,629 RGD:11576285
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:1599454
G Casp1 caspase 1 JBrowse link 8 2,605,743 2,614,637 RGD:11554173
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:1600624
RGD:11554173
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8549578
G Cth cystathionine gamma-lyase JBrowse link 2 264,266,959 264,293,040 RGD:8554872
G Cxcl1 C-X-C motif chemokine ligand 1 JBrowse link 14 18,743,678 18,745,457 RGD:5135249
G Cxcl6 C-X-C motif chemokine ligand 6 JBrowse link 14 18,860,201 18,920,839 RGD:5135249
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:11554173
G Ece1 endothelin converting enzyme 1 JBrowse link 5 156,215,469 156,318,652 RGD:4892572
G Ednra endothelin receptor type A JBrowse link 19 33,928,356 33,991,703 RGD:4892572
G F10 coagulation factor X JBrowse link 16 81,803,169 81,822,476 RGD:1601105
G F12 coagulation factor XII JBrowse link 17 9,736,577 9,744,420 RGD:1601105
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:1601105
G F8 coagulation factor VIII JBrowse link 18 367,862 399,242 RGD:1601105
G Fcrl2 Fc receptor-like 2 JBrowse link 2 186,594,442 186,605,115 RGD:1601421
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:10449171
G Gnmt glycine N-methyltransferase JBrowse link 9 16,565,274 16,568,626 RGD:11554173
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:11035307
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 JBrowse link 10 42,441,723 42,760,200 RGD:13792697
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:13792697
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:13792697
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:4144131
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:7175168
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204791
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:1601421
RGD:11554173
RGD:10449400
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:1601425
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:11554173
G Ngf nerve growth factor JBrowse link 2 204,886,158 204,939,523 RGD:5144149
G Nphs1 NPHS1 adhesion molecule, nephrin JBrowse link 1 88,922,346 88,950,560 RGD:11554173
G Nppb natriuretic peptide B JBrowse link 5 164,796,176 164,797,538 RGD:1642265
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11554173
G Pycard PYD and CARD domain containing JBrowse link 1 199,438,029 199,439,062 RGD:11554173
G Slc46a1 solute carrier family 46 member 1 JBrowse link 10 65,728,508 65,741,708 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11035307
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204791
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
cystathioninuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cth cystathionine gamma-lyase JBrowse link 2 264,266,959 264,293,040 RGD:7240710
RGD:8554872
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
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Malabsorption Syndromes 90
        hyperhomocysteinemia 49
          cystathioninuria 1
          homocystinuria + 13
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
                      cystathioninuria 1
                      homocystinuria + 13
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.