Aliases & Classifications for Carbonic Anhydrase Va Deficiency

MalaCards integrated aliases for Carbonic Anhydrase Va Deficiency:

Name: Carbonic Anhydrase Va Deficiency 23 49 24
Ca-Va Deficiency 23 49 24
Hyperammonemic Encephalopathy Due to Carbonic Anhydrase Va Deficiency 49 24
Hyperammonemia Due to Carbonic Anhydrase Va Deficiency 49 24
Mitochondrial Carbonic Anhydrase Va Deficiency 49 24
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 69
Ca5ad 24

Classifications:



External Ids:

UMLS 69 C3810404

Summaries for Carbonic Anhydrase Va Deficiency

Genetics Home Reference : 24 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 12.9
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:

38
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

ClinVar genetic disease variations for Carbonic Anhydrase Va Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CA5A NM_001739.1(CA5A): c.697T> C (p.Ser233Pro) single nucleotide variant Pathogenic rs587777316 GRCh38 Chromosome 16, 87891876: 87891876
2 CA5A NM_001739.1(CA5A): c.555G> A (p.Lys185=) single nucleotide variant Pathogenic/Likely pathogenic rs147623570 GRCh38 Chromosome 16, 87902425: 87902425
3 CA5A NM_001739.1(CA5A): c.619-3421_774+502del (p.Asp207_Gln258del) deletion Pathogenic GRCh38 Chromosome 16, 87891297: 87895395

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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42 MESH via Orphanet
43 MGI
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50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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