MCID: CRB155
MIFTS: 19

Carbonic Anhydrase Va Deficiency

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Carbonic Anhydrase Va Deficiency

MalaCards integrated aliases for Carbonic Anhydrase Va Deficiency:

Name: Carbonic Anhydrase Va Deficiency 24 53 25
Ca-Va Deficiency 24 53 25
Hyperammonemic Encephalopathy Due to Carbonic Anhydrase Va Deficiency 53 25
Hyperammonemia Due to Carbonic Anhydrase Va Deficiency 53 25
Mitochondrial Carbonic Anhydrase Va Deficiency 53 25
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 72
Ca5ad 25

Classifications:



External Ids:

UMLS 72 C3810404

Summaries for Carbonic Anhydrase Va Deficiency

Genetics Home Reference : 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. During an episode, people with carbonic anhydrase VA deficiency have excess ammonia in the blood (hyperammonemia), problems with acid-base balance in the blood (metabolic acidosis and respiratory alkalosis), low glucose in the blood (hypoglycemia), and reduced production of a substance called bicarbonate in the liver. These imbalances lead to the signs and symptoms that occur during the episodes. People with carbonic anhydrase VA deficiency typically first experience episodes of the disorder by age 2. These episodes may be triggered by going without food (fasting) for longer than usual between meals or when energy demands are increased, such as during illness. Between episodes, children with carbonic anhydrase VA deficiency are generally healthy, and more than half have no further episodes after the first one. Some affected children have mildly delayed development or learning disabilities, while others develop normally for their age. The risk of metabolic crisis and acute encephalopathy is thought to decrease after childhood. Because of the small number of people with carbonic anhydrase VA deficiency who have come to medical attention, the effects of this disorder in adults are not well understood.

MalaCards based summary : Carbonic Anhydrase Va Deficiency, also known as ca-va deficiency, is related to carbonic anhydrase va deficiency, hyperammonemia due to and pyruvate carboxylase deficiency, 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 and liver.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 401948DefinitionA rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine.Visit the Orphanet disease page for more resources.

GeneReviews: NBK284774

Related Diseases for Carbonic Anhydrase Va Deficiency

Diseases related to Carbonic Anhydrase Va Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 carbonic anhydrase va deficiency, hyperammonemia due to 13.2
2 pyruvate carboxylase deficiency 10.1
3 metabolic acidosis 10.1
4 multiple carboxylase deficiency 10.1
5 hypoglycemia 10.1
6 encephalopathy 10.1

Graphical network of the top 20 diseases related to Carbonic Anhydrase Va Deficiency:



Diseases related to Carbonic Anhydrase Va Deficiency

Symptoms & Phenotypes for Carbonic Anhydrase Va Deficiency

UMLS symptoms related to Carbonic Anhydrase Va Deficiency:


lethargy

Drugs & Therapeutics for Carbonic Anhydrase Va Deficiency

Search Clinical Trials , NIH Clinical Center for Carbonic Anhydrase Va Deficiency

Genetic Tests for Carbonic Anhydrase Va Deficiency

Anatomical Context for Carbonic Anhydrase Va Deficiency

MalaCards organs/tissues related to Carbonic Anhydrase Va Deficiency:

41
Brain, Liver

Publications for Carbonic Anhydrase Va Deficiency

Articles related to Carbonic Anhydrase Va Deficiency:

# Title Authors PMID Year
1
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. 38 4
24530203 2014
2
The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource. 4
24518794 2014
3
Clinical and biochemical aspects of primary and secondary hyperammonemic disorders. 4
23628343 2013
4
Targeted mutagenesis of mitochondrial carbonic anhydrases VA and VB implicates both enzymes in ammonia detoxification and glucose metabolism. 4
23589845 2013
5
Genomic organization of the human gene (CA5) and pseudogene for mitochondrial carbonic anhydrase V and their localization to chromosomes 16q and 16p. 4
7490083 1995
6
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. 38
26913920 2016
7
ERRATUM: Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. 38
27304993 2016
8
Carbonic Anhydrase VA Deficiency 38
25834911 2015

Variations for Carbonic Anhydrase Va Deficiency

Expression for Carbonic Anhydrase Va Deficiency

Search GEO for disease gene expression data for Carbonic Anhydrase Va Deficiency.

Pathways for Carbonic Anhydrase Va Deficiency

Pathways related to Carbonic Anhydrase Va Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.09 CA5B CA5A

GO Terms for Carbonic Anhydrase Va Deficiency

Cellular components related to Carbonic Anhydrase Va Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.62 CA5B CA5A

Biological processes related to Carbonic Anhydrase Va Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 bicarbonate transport GO:0015701 8.62 CA5B CA5A

Molecular functions related to Carbonic Anhydrase Va Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.16 CA5B CA5A
2 lyase activity GO:0016829 8.96 CA5B CA5A
3 carbonate dehydratase activity GO:0004089 8.62 CA5B CA5A

Sources for Carbonic Anhydrase Va Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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