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MCID: CRB155
MIFTS: 17
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Carbonic Anhydrase Va Deficiency
Categories:
Rare diseases
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Genetics Home Reference
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25
Carbonic anhydrase VA deficiency is an inherited disorder characterized by episodes during which the balance of certain substances in the body is disrupted (known as metabolic crisis) and brain function is abnormal (known as acute encephalopathy). These potentially life-threatening episodes can cause poor feeding, vomiting, weight loss, tiredness (lethargy), rapid breathing (tachypnea), seizures, or coma.
MalaCards based summary : Carbonic Anhydrase Va Deficiency, also known as ca-va deficiency, is related to carbonic anhydrase va deficiency, hyperammonemia due to, and has symptoms including lethargy An important gene associated with Carbonic Anhydrase Va Deficiency is CA5A (Carbonic Anhydrase 5A), and among its related pathways/superpathways is Nitrogen metabolism. Affiliated tissues include brain.
GeneReviews:
NBK284774
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Diseases related to Carbonic Anhydrase Va Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
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UMLS symptoms related to Carbonic Anhydrase Va Deficiency:lethargy |
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MalaCards organs/tissues related to Carbonic Anhydrase Va Deficiency:41
Brain
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Articles related to Carbonic Anhydrase Va Deficiency:
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Genes related to Carbonic Anhydrase Va Deficiency (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Carbonic Anhydrase Va Deficiency.
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Cellular components related to Carbonic Anhydrase Va Deficiency according to GeneCards Suite gene sharing:
Biological processes related to Carbonic Anhydrase Va Deficiency according to GeneCards Suite gene sharing:
Molecular functions related to Carbonic Anhydrase Va Deficiency according to GeneCards Suite gene sharing:
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