MCID: CRB155
MIFTS: 18

Carbonic Anhydrase Va Deficiency

Categories: 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 73
Ca5ad 25

Classifications:



External Ids:

UMLS 73 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.

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

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 12.8
2 hepatitis 10.0

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

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
3
Carbonic Anhydrase VA Deficiency ( 25834911 )
1993

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 8.96 CA5A CA5B
2 one-carbon metabolic process GO:0006730 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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