MCID: CRB155
MIFTS: 17

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 25 54 26
Ca-Va Deficiency 25 54 26
Hyperammonemic Encephalopathy Due to Carbonic Anhydrase Va Deficiency 54 26
Hyperammonemia Due to Carbonic Anhydrase Va Deficiency 54 26
Mitochondrial Carbonic Anhydrase Va Deficiency 54 26
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 74
Ca5ad 26

Classifications:



External Ids:

UMLS 74 C3810404

Summaries for Carbonic Anhydrase Va Deficiency

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 401948Disease definitionA 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.

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.

Genetics Home Reference : 26 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.

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 13.1

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:

42
Brain

Publications for Carbonic Anhydrase Va Deficiency

Articles related to Carbonic Anhydrase Va Deficiency:

# Title Authors Year
1
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. ( 26913920 )
2016
2
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. ( 24530203 )
2014

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 CA5A CA5B

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 CA5A CA5B

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 CA5A CA5B

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 CA5A CA5B
2 lyase activity GO:0016829 8.96 CA5A CA5B
3 carbonate dehydratase activity GO:0004089 8.62 CA5A CA5B

Sources for Carbonic Anhydrase Va Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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