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Term:ornithine carbamoyltransferase deficiency
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Accession:DOID:9271 term browser browse the term
Definition:An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)
Synonyms:exact_synonym: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO;   OTC Deficiencies;   OTC deficiency;   Ornithine Transcarbamylase Deficiencies;   Ornithine Transcarbamylase Deficiency;   Ornithine Transcarbamylase Deficiency Disease;   deficiency disease, ornithine carbamoyltransferase;   deficiency of citrulline phosphorylase
 primary_id: MESH:D020163;   OMIM:311250
 alt_id: RDO:0007323;   RDO:0008707
 xref: GARD:8391;   ICD10CM:E72.4;   NCI:C84957
For additional species annotation, visit the Alliance of Genome Resources.

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ornithine carbamoyltransferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP6AP2 ATPase H+ transporting accessory protein 2 JBrowse link X 35,050,588 35,073,633 RGD:9068941
G BCOR BCL6 corepressor JBrowse link X 34,621,314 34,735,502 RGD:9068941
G CFAP47 cilia and flagella associated protein 47 JBrowse link X 30,880,335 31,390,675 RGD:9068941
G CXHXorf38 chromosome X CXorf38 homolog JBrowse link X 35,101,755 35,121,453 RGD:9068941
G CYBB cytochrome b-245 beta chain JBrowse link X 32,533,365 32,568,149 RGD:9068941
G DMD dystrophin JBrowse link X 26,290,903 28,444,635 RGD:9068941
G DYNLT3 dynein light chain Tctex-type 3 JBrowse link X 32,603,881 32,611,213 RGD:9068941
G FTHL18 ferritin heavy chain like 18 JBrowse link X 32,203,684 32,206,467 RGD:9068941
G GK glycerol kinase JBrowse link X 25,748,060 25,834,462 RGD:9068941
G H2AP H2A.P histone JBrowse link X 32,744,935 32,745,485 RGD:9068941
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 16 1,021,855 1,027,604 RGD:9068941
G LANCL3 LanC like 3 JBrowse link X 32,349,007 32,452,130 RGD:9068941
G LOC100856762 melanoma-associated antigen B16-like JBrowse link X 30,061,692 30,064,909 RGD:9068941
G MED14 mediator complex subunit 14 JBrowse link X 35,125,270 35,191,260 RGD:9068941
G MID1IP1 MID1 interacting protein 1 JBrowse link X 33,548,210 33,550,550 RGD:9068941
G MPC1L mitochondrial pyruvate carrier 1 like JBrowse link X 35,096,805 35,098,017 RGD:9068941
G NR0B1 nuclear receptor subfamily 0 group B member 1 JBrowse link X 25,396,527 25,401,587 RGD:9068941
G OTC ornithine carbamoyltransferase JBrowse link X 33,130,921 33,200,441 RGD:7240710
G PRRG1 proline rich and Gla domain 1 JBrowse link X 31,856,586 32,141,855 RGD:9068941
G RPGR retinitis pigmentosa GTPase regulator JBrowse link X 33,056,371 33,105,036 RGD:9068941
G SRPX sushi repeat containing protein X-linked JBrowse link X 32,905,380 33,017,642 RGD:9068941
G SYTL5 synaptotagmin like 5 JBrowse link X 32,652,389 32,886,793 RGD:9068941
G TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 JBrowse link X 25,950,071 26,039,180 RGD:9068941
G TASL TLR adaptor interacting with endolysosomal SLC15A4 JBrowse link X 25,664,361 25,679,044 RGD:9068941
G TMEM47 transmembrane protein 47 JBrowse link X 29,675,386 29,705,941 RGD:9068941
G TSPAN7 tetraspanin 7 JBrowse link X 33,336,821 33,465,097 RGD:9068941
G USP9X ubiquitin specific peptidase 9 X-linked JBrowse link X 35,522,873 35,676,086 RGD:9068941
G XK X-linked Kx blood group JBrowse link X 32,453,404 32,498,145 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12604
    Pathological Conditions, Signs and Symptoms 7350
      Pathologic Processes 5445
        Hyperammonemia 51
          ornithine carbamoyltransferase deficiency 28
Path 2
Term Annotations click to browse term
  disease 12604
    disease of anatomical entity 12146
      nervous system disease 9870
        central nervous system disease 8266
          brain disease 7604
            Metabolic Brain Diseases 547
              Metabolic Brain Diseases, Inborn 483
                urea cycle disorder 42
                  ornithine carbamoyltransferase deficiency 28
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.