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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 19 54,731,829 54,761,697 RGD:7240710
RGD:8554872
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link 9 74,113,437 74,236,274 RGD:13628400

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  disease 16022
    Nutritional and Metabolic Diseases 4644
      disease of metabolism 4644
        inherited metabolic disorder 2179
          CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 2
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          inherited metabolic disorder 2179
            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.