MCID: CRB155
MIFTS: 12

Carbonic Anhydrase Va Deficiency

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Carbonic Anhydrase Va Deficiency

MalaCards integrated aliases for Carbonic Anhydrase Va Deficiency:

Name: Carbonic Anhydrase Va Deficiency 23 50 25
Hyperammonemia Due to Carbonic Anhydrase Va Deficiency 50 24 25
Mitochondrial Carbonic Anhydrase Va Deficiency 50 24 25
Ca-Va Deficiency 23 50 25
Hyperammonemic Encephalopathy Due to Carbonic Anhydrase Va Deficiency 50 25
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 69
Ca5ad 25

Classifications:



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 hyperammonemia due to carbonic anhydrase va deficiency, is related to hyperammonemia due to carbonic anhydrase va deficiency and hyperammonemia, and has symptoms including lethargy An important gene associated with Carbonic Anhydrase Va Deficiency is CA5A (Carbonic Anhydrase 5A). 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:

id Related Disease Score Top Affiliating Genes
1 hyperammonemia due to carbonic anhydrase va deficiency 12.6
2 hyperammonemia 9.9

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

Genetic tests related to Carbonic Anhydrase Va Deficiency:

id Genetic test Affiliating Genes
1 Mitochondrial Carbonic Anhydrase Va Deficiency 24 CA5A

Anatomical Context for Carbonic Anhydrase Va Deficiency

MalaCards organs/tissues related to Carbonic Anhydrase Va Deficiency:

39
Brain

Publications for Carbonic Anhydrase Va Deficiency

Articles related to Carbonic Anhydrase Va Deficiency:

id Title Authors Year
1
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. ( 24530203 )
2014
2
Carbonic Anhydrase VA Deficiency ( 25834911 )
1993

Variations for Carbonic Anhydrase Va Deficiency

ClinVar genetic disease variations for Carbonic Anhydrase Va Deficiency:

6
id 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

GO Terms for Carbonic Anhydrase Va Deficiency

Sources for Carbonic Anhydrase Va Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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