CA5AD
MCID: CRB197
MIFTS: 39

Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to (CA5AD)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

MalaCards integrated aliases for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to:

Name: Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 58 30 6 74
Hyperammonemia Due to Carbonic Anhydrase Va Deficiency 58 76
Hyperammonemia 45 74
Ca5ad 58 76
Hyperammonemic Encephalopathy Due to Carbonic Anhydrase Va Deficiency 60
Ca-Va Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
hyperammonemic encephalopathy due to carbonic anhydrase va deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in early infancy or childhood
episodic metabolic decompensation
treatment with carglumic acid can result in neurologic improvement
relatively benign course after acute episodes in childhood


HPO:

33
carbonic anhydrase va deficiency, hyperammonemia due to:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

OMIM : 58 Carbonic anhydrase VA deficiency is an autosomal recessive inborn error of metabolism characterized clinically by acute onset of encephalopathy in infancy or early childhood. Biochemical evaluation shows multiple metabolic abnormalities, including metabolic acidosis and respiratory alkalosis. Other abnormalities include hypoglycemia, increased serum lactate and alanine, and evidence of impaired provision of bicarbonate to essential mitochondrial enzymes. Apart from episodic acute events in early childhood, the disorder shows a relatively benign course. Treatment with carglumic acid can result in neurologic improvement (summary by van Karnebeek et al., 2014). (615751)

MalaCards based summary : Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to, also known as hyperammonemia due to carbonic anhydrase va deficiency, is related to hyperornithinemia-hyperammonemia-homocitrullinuria syndrome and carbamoyl phosphate synthetase i deficiency, hyperammonemia due to, and has symptoms including muscle weakness, polydipsia and lethargy. An important gene associated with Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to is CA5A (Carbonic Anhydrase 5A), and among its related pathways/superpathways are Metabolism and Viral mRNA Translation. Related phenotypes are global developmental delay and hypoglycemia

UniProtKB/Swiss-Prot : 76 Hyperammonemia due to carbonic anhydrase VA deficiency: An autosomal recessive inborn error of metabolism, clinically characterized by infantile hyperammonemic encephalopathy. Metabolic abnormalities include hypoglycemia, hyperlactatemia, metabolic acidosis and respiratory alkalosis.

Related Diseases for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

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

(show top 50) (show all 127)
# Related Disease Score Top Affiliating Genes
1 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 33.3 CPS1 NAGS OTC SLC25A15
2 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 32.9 ASS1 CPS1 NAGS OTC
3 ornithine transcarbamylase deficiency, hyperammonemia due to 32.3 ASS1 CPS1 NAGS OTC SLC25A13
4 citrullinemia, type ii, adult-onset 31.6 ASS1 SLC25A13
5 argininemia 31.6 ASS1 CPS1 NAGS OTC
6 holocarboxylase synthetase deficiency 31.3 SLC25A13 SLC25A20
7 argininosuccinic aciduria 31.0 ASS1 NAGS OTC SLC25A13
8 reye syndrome 30.3 ASS1 OTC
9 urea cycle disorder 30.2 ASS1 CPS1 NAGS OTC SLC25A13 SLC25A15
10 orotic aciduria 30.1 ASS1 OTC
11 brain edema 29.8 OTC SLC25A13
12 propionic acidemia 29.3 ASS1 NAGS OTC SLC25A13
13 hyperinsulinemic hypoglycemia, familial, 6 12.3
14 transient hyperammonemia of the newborn 12.2
15 hyperlysinuria with hyperammonemia 12.2
16 n-acetylglutamate synthase deficiency 12.1
17 mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia 12.0
18 carbonic anhydrase va deficiency 11.9
19 lysinuric protein intolerance 11.3
20 carnitine-acylcarnitine translocase deficiency 11.3
21 barth syndrome 11.1
22 vitamin b12-responsive methylmalonic acidemia 11.1
23 aspartylglucosaminuria 11.0
24 rett syndrome 11.0
25 combined oxidative phosphorylation deficiency 5 11.0
26 3-hydroxy-3-methylglutaryl-coa lyase deficiency 11.0
27 methylmalonyl-coa epimerase deficiency 11.0
28 biotinidase deficiency 11.0
29 gyrate atrophy of choroid and retina 11.0
30 carnitine palmitoyltransferase ii deficiency, infantile 11.0
31 mitochondrial complex v deficiency, nuclear type 1 11.0
32 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 11.0
33 mitochondrial complex v deficiency, nuclear type 5 11.0
34 encephalopathy 10.7
35 hepatic encephalopathy 10.6
36 hyperinsulinism 10.6
37 hepatic coma 10.5
38 ornithinemia 10.5
39 infantile liver failure syndrome 1 10.4
40 acute liver failure 10.4
41 hyperinsulinemic hypoglycemia, familial, 2 10.2
42 hyperinsulinemic hypoglycemia, familial, 3 10.2
43 hyperinsulinemic hypoglycemia, familial, 5 10.2
44 hyperinsulinemic hypoglycemia, familial, 4 10.2
45 methylmalonic acidemia 10.2
46 inherited metabolic disorder 10.2
47 hypoglycemia 10.2
48 liver cirrhosis 10.1
49 renal tubular acidosis 10.1
50 renal tubular acidosis, distal 10.1

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



Diseases related to Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

Symptoms & Phenotypes for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

Human phenotypes related to Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 occasional (7.5%) HP:0001263
2 hypoglycemia 33 HP:0001943
3 increased serum lactate 33 HP:0002151
4 lactic acidosis 33 HP:0003128
5 hyperammonemia 33 HP:0001987
6 lethargy 33 HP:0001254
7 metabolic acidosis 33 HP:0001942
8 tachypnea 33 HP:0002789
9 hyperalaninemia 33 HP:0003348
10 ketonuria 33 HP:0002919
11 ketoacidosis 33 HP:0001993
12 respiratory alkalosis 33 HP:0001950

Symptoms via clinical synopsis from OMIM:

58
Metabolic Features:
hypoglycemia
lactic acidosis
metabolic acidosis
ketoacidosis
respiratory alkalosis

Neurologic Central Nervous System:
lethargy
learning difficulties (in some patients)
encephalopathy, acute, episodic
delayed psychomotor development, mild (in some patients)

Laboratory Abnormalities:
increased serum lactate
hyperammonemia
ketonuria
increased serum glutamine
increased serum alanine
more
Respiratory:
tachypnea, episodic

Clinical features from OMIM:

615751

UMLS symptoms related to Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to:


muscle weakness, polydipsia, lethargy

MGI Mouse Phenotypes related to Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.5 ASS1 CA5A CPS1 NAGS OTC SLC25A13
2 mortality/aging MP:0010768 9.17 ASS1 CA5A CPS1 NAGS OTC SLC25A13

Drugs & Therapeutics for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

Search Clinical Trials , NIH Clinical Center for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: hyperammonemia

Genetic Tests for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

Genetic tests related to Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to:

# Genetic test Affiliating Genes
1 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 30 CA5A

Anatomical Context for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

Publications for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

Variations for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

UniProtKB/Swiss-Prot genetic disease variations for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to:

76
# Symbol AA change Variation ID SNP ID
1 CA5A p.Ser233Pro VAR_071188 rs587777316

ClinVar genetic disease variations for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 OTC NM_000531.5(OTC): c.374C> T (p.Thr125Met) single nucleotide variant Uncertain significance rs72554356 GRCh37 Chromosome X, 38240670: 38240670
2 OTC NM_000531.5(OTC): c.374C> T (p.Thr125Met) single nucleotide variant Uncertain significance rs72554356 GRCh38 Chromosome X, 38381417: 38381417
3 CA5A NM_001739.2(CA5A): c.697T> C (p.Ser233Pro) single nucleotide variant Pathogenic rs587777316 GRCh38 Chromosome 16, 87891876: 87891876
4 CA5A NM_001739.2(CA5A): c.697T> C (p.Ser233Pro) single nucleotide variant Pathogenic rs587777316 GRCh37 Chromosome 16, 87925482: 87925482
5 CA5A NM_001739.2(CA5A): c.555G> A (p.Lys185=) single nucleotide variant Likely pathogenic rs147623570 GRCh38 Chromosome 16, 87902425: 87902425
6 CA5A NM_001739.2(CA5A): c.555G> A (p.Lys185=) single nucleotide variant Likely pathogenic rs147623570 GRCh37 Chromosome 16, 87936031: 87936031
7 CA5A NM_001739.1(CA5A): c.619-3421_774+502del (p.Asp207_Gln258del) deletion Pathogenic GRCh38 Chromosome 16, 87891297: 87895395
8 CA5A NM_001739.1(CA5A): c.619-3421_774+502del (p.Asp207_Gln258del) deletion Pathogenic GRCh37 Chromosome 16, 87924903: 87928981
9 PCCB NM_000532.4(PCCB): c.1421A> G (p.Lys474Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs145628302 GRCh38 Chromosome 3, 136328780: 136328780
10 PCCB NM_000532.4(PCCB): c.1421A> G (p.Lys474Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs145628302 GRCh37 Chromosome 3, 136047622: 136047622
11 CA5A NM_001739.2(CA5A): c.721G> A (p.Glu241Lys) single nucleotide variant Likely pathogenic rs563971993 GRCh37 Chromosome 16, 87925458: 87925458
12 CA5A NM_001739.2(CA5A): c.721G> A (p.Glu241Lys) single nucleotide variant Likely pathogenic rs563971993 GRCh38 Chromosome 16, 87891852: 87891852
13 CA5A NM_001739.2(CA5A): c.135T> A (p.Asn45Lys) single nucleotide variant Benign rs77325391 GRCh37 Chromosome 16, 87969922: 87969922
14 CA5A NM_001739.2(CA5A): c.135T> A (p.Asn45Lys) single nucleotide variant Benign rs77325391 GRCh38 Chromosome 16, 87936316: 87936316
15 OTC NM_000531.5(OTC): c.540+265G> A single nucleotide variant Pathogenic rs1555975756 GRCh38 Chromosome X, 38401693: 38401693
16 OTC NM_000531.5(OTC): c.540+265G> A single nucleotide variant Pathogenic rs1555975756 GRCh37 Chromosome X, 38260946: 38260946
17 PCCB NM_000532.4(PCCB): c.763+10C> G single nucleotide variant Conflicting interpretations of pathogenicity rs180982841 GRCh38 Chromosome 3, 136293874: 136293874
18 PCCB NM_000532.4(PCCB): c.763+10C> G single nucleotide variant Conflicting interpretations of pathogenicity rs180982841 GRCh37 Chromosome 3, 136012716: 136012716
19 OTC NM_000531.5(OTC): c.1005+11A> T single nucleotide variant Uncertain significance rs375524303 GRCh38 Chromosome X, 38412010: 38412010
20 OTC NM_000531.5(OTC): c.1005+11A> T single nucleotide variant Uncertain significance rs375524303 GRCh37 Chromosome X, 38271263: 38271263
21 CA5A NC_000016.10: g.(?_87936289)_(87936470_?)del deletion Pathogenic GRCh37 Chromosome 16, 87969895: 87970076
22 CA5A NC_000016.10: g.(?_87936289)_(87936470_?)del deletion Pathogenic GRCh38 Chromosome 16, 87936289: 87936470
23 CA5A NM_001739.2(CA5A): c.556C> T (p.Leu186Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 87935580: 87935580
24 CA5A NM_001739.2(CA5A): c.556C> T (p.Leu186Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 87901974: 87901974
25 CA5A NM_001739.2(CA5A): c.94C> T (p.Arg32Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 87936357: 87936357
26 CA5A NM_001739.2(CA5A): c.94C> T (p.Arg32Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 87969963: 87969963

Expression for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

Search GEO for disease gene expression data for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to.

Pathways for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 ASS1 CA5A CPS1 NAGS OTC SLC25A13
2
Show member pathways
13.24 ASS1 CPS1 NAGS OTC SLC25A15
3
Show member pathways
11.78 ASS1 CPS1 NAGS OTC
4 11.46 ASS1 CPS1 OTC
5 10.95 ASS1 CPS1
6
Show member pathways
10.83 CA5A CPS1
7
Show member pathways
10.67 ASS1 CPS1 NAGS OTC
8
Show member pathways
10.3 ASS1 CPS1 NAGS OTC

GO Terms for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.46 CA5A CPS1 NAGS OTC
2 mitochondrial inner membrane GO:0005743 9.35 CPS1 OTC SLC25A13 SLC25A15 SLC25A20
3 mitochondrion GO:0005739 9.23 ASS1 CA5A CPS1 NAGS OTC SLC25A13

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.72 ASS1 CPS1 OTC
2 liver development GO:0001889 9.61 ASS1 CPS1 OTC
3 response to toxic substance GO:0009636 9.58 ASS1 CPS1
4 response to glucocorticoid GO:0051384 9.57 ASS1 CPS1
5 cellular response to cAMP GO:0071320 9.56 ASS1 CPS1
6 cellular amino acid biosynthetic process GO:0008652 9.54 ASS1 OTC
7 response to amino acid GO:0043200 9.52 ASS1 CPS1
8 response to steroid hormone GO:0048545 9.51 ASS1 CPS1
9 cellular response to glucagon stimulus GO:0071377 9.49 ASS1 CPS1
10 response to growth hormone GO:0060416 9.48 ASS1 CPS1
11 response to amine GO:0014075 9.46 ASS1 CPS1
12 response to zinc ion GO:0010043 9.43 ASS1 CPS1 OTC
13 citrulline biosynthetic process GO:0019240 9.4 CPS1 OTC
14 cellular response to oleic acid GO:0071400 9.37 ASS1 CPS1
15 midgut development GO:0007494 9.33 ASS1 CPS1 OTC
16 anion homeostasis GO:0055081 9.32 CPS1 OTC
17 arginine biosynthetic process GO:0006526 9.26 ASS1 CPS1 NAGS OTC
18 urea cycle GO:0000050 9.02 ASS1 CPS1 NAGS OTC SLC25A15

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

# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 8.96 CPS1 OTC
2 amino acid binding GO:0016597 8.62 ASS1 OTC

Sources for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

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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