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ONTOLOGY REPORT - ANNOTATIONS


Term:CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
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Accession:DOID:9002957 term browser browse the term
Definition:Carbonic anhydrase VA deficiency (CA5AD) is an autosomal recessive inborn error of metabolism characterized clinically by acute onset of encephalopathy in infancy or early childhood. Biochemical evaluation shows multiple metabolic abnormalities, including metabolic acidosis and respiratory alkalosis. Other abnormalities include hypoglycemia, increased serum lactate and alanine, and evidence of impaired provision of bicarbonate to essential mitochondrial enzymes. Apart from episodic acute events in early childhood, the disorder shows a relatively benign course. Treatment with carglumic acid can result in neurologic improvement. CA5AD is caused by homozygous mutation in the CA5A gene on chromosome 16q24. (OMIM)
Synonyms:exact_synonym: CA5AD
 primary_id: OMIM:615751
 alt_id: RDO:0016157
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CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CA5A carbonic anhydrase 5A JBrowse link 6 1,495,615 1,539,390 RGD:7240710
G CPS1 carbamoyl-phosphate synthase 1 JBrowse link 15 113,210,038 113,339,086 RGD:9068941

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Path 1
Term Annotations click to browse term
  disease 12552
    Nutritional and Metabolic Diseases 3557
      disease of metabolism 3557
        inherited metabolic disorder 1937
          CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 2
Path 2
Term Annotations click to browse term
  disease 12552
    Developmental Diseases 8753
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7600
        genetic disease 7161
          inherited metabolic disorder 1937
            CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.