MCID: CRB197
MIFTS: 35

Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

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 57 29 6 73
Hyperammonemia Due to Carbonic Anhydrase Va Deficiency 57 75
Hyperammonemia 44 73
Ca5ad 57 75
Hyperammonemic Encephalopathy Due to Carbonic Anhydrase Va Deficiency 59
Ca-Va Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
hyperammonemic encephalopathy due to carbonic anhydrase va deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

57
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:

32
carbonic anhydrase va deficiency, hyperammonemia due to:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

OMIM : 57 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 ornithine transcarbamylase deficiency, hyperammonemia due to, and has symptoms including polydipsia, muscle weakness 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 : 75 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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 occasional (7.5%) HP:0001263
2 hypoglycemia 32 HP:0001943
3 increased serum lactate 32 HP:0002151
4 lactic acidosis 32 HP:0003128
5 hyperammonemia 32 HP:0001987
6 lethargy 32 HP:0001254
7 metabolic acidosis 32 HP:0001942
8 tachypnea 32 HP:0002789
9 hyperalaninemia 32 HP:0003348
10 ketonuria 32 HP:0002919
11 ketoacidosis 32 HP:0001993
12 respiratory alkalosis 32 HP:0001950

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


polydipsia, muscle weakness, lethargy

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 73 / NDF-RT 51 :


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 29 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:

75
# 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 16)
# 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.697T> C (p.Ser233Pro) single nucleotide variant Pathogenic rs587777316 GRCh37 Chromosome 16, 87925482: 87925482
3 CA5A NM_001739.1(CA5A): c.555G> A (p.Lys185=) single nucleotide variant Likely pathogenic rs147623570 GRCh38 Chromosome 16, 87902425: 87902425
4 CA5A NM_001739.1(CA5A): c.555G> A (p.Lys185=) single nucleotide variant Likely pathogenic rs147623570 GRCh37 Chromosome 16, 87936031: 87936031
5 CA5A NM_001739.1(CA5A): c.619-3421_774+502del (p.Asp207_Gln258del) deletion Pathogenic GRCh38 Chromosome 16, 87891297: 87895395
6 CA5A NM_001739.1(CA5A): c.619-3421_774+502del (p.Asp207_Gln258del) deletion Pathogenic GRCh37 Chromosome 16, 87924903: 87928981
7 PCCB NM_000532.4(PCCB): c.1421A> G (p.Lys474Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs145628302 GRCh37 Chromosome 3, 136047622: 136047622
8 PCCB NM_000532.4(PCCB): c.1421A> G (p.Lys474Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs145628302 GRCh38 Chromosome 3, 136328780: 136328780
9 CA5A NM_001739.1(CA5A): c.135T> A (p.Asn45Lys) single nucleotide variant Benign rs77325391 GRCh37 Chromosome 16, 87969922: 87969922
10 CA5A NM_001739.1(CA5A): c.135T> A (p.Asn45Lys) single nucleotide variant Benign rs77325391 GRCh38 Chromosome 16, 87936316: 87936316
11 OTC NM_000531.5(OTC): c.540+265G> A single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome X, 38401693: 38401693
12 OTC NM_000531.5(OTC): c.540+265G> A single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome X, 38260946: 38260946
13 PCCB NM_000532.4(PCCB): c.763+10C> G single nucleotide variant Conflicting interpretations of pathogenicity rs180982841 GRCh38 Chromosome 3, 136293874: 136293874
14 PCCB NM_000532.4(PCCB): c.763+10C> G single nucleotide variant Conflicting interpretations of pathogenicity rs180982841 GRCh37 Chromosome 3, 136012716: 136012716
15 OTC NM_000531.5(OTC): c.1005+11A> T single nucleotide variant Uncertain significance rs375524303 GRCh38 Chromosome X, 38412010: 38412010
16 OTC NM_000531.5(OTC): c.1005+11A> T single nucleotide variant Uncertain significance rs375524303 GRCh37 Chromosome X, 38271263: 38271263

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
13.48 ASS1 CA5A CPS1 NAGS OTC SLC25A15
2
Show member pathways
13.24 ASS1 CPS1 NAGS OTC SLC25A15
3
Show member pathways
11.78 ASS1 CPS1 NAGS OTC
4 11.39 ASS1 CPS1 OTC
5 10.95 ASS1 CPS1
6
Show member pathways
10.78 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 inner membrane GO:0005743 9.33 CPS1 OTC SLC25A15
2 mitochondrial matrix GO:0005759 9.26 CA5A CPS1 NAGS OTC
3 mitochondrion GO:0005739 9.1 ASS1 CA5A CPS1 NAGS OTC SLC25A15

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.71 ASS1 CPS1 OTC
2 liver development GO:0001889 9.63 ASS1 CPS1 OTC
3 response to toxic substance GO:0009636 9.58 ASS1 CPS1
4 response to glucocorticoid GO:0051384 9.58 ASS1 CPS1
5 cellular response to cAMP GO:0071320 9.57 ASS1 CPS1
6 cellular amino acid biosynthetic process GO:0008652 9.56 ASS1 OTC
7 cellular response to glucagon stimulus GO:0071377 9.55 ASS1 CPS1
8 response to amino acid GO:0043200 9.52 ASS1 CPS1
9 response to steroid hormone GO:0048545 9.51 ASS1 CPS1
10 response to growth hormone GO:0060416 9.49 ASS1 CPS1
11 response to amine GO:0014075 9.48 ASS1 CPS1
12 citrulline biosynthetic process GO:0019240 9.43 CPS1 OTC
13 response to zinc ion GO:0010043 9.43 ASS1 CPS1 OTC
14 primary metabolic process GO:0044238 9.4 CPS1 OTC
15 cellular response to oleic acid GO:0071400 9.37 ASS1 CPS1
16 midgut development GO:0007494 9.33 ASS1 CPS1 OTC
17 anion homeostasis GO:0055081 9.32 CPS1 OTC
18 arginine biosynthetic process GO:0006526 9.26 ASS1 CPS1 NAGS OTC
19 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 ligase activity GO:0016874 9.16 ASS1 CPS1
2 phospholipid binding GO:0005543 8.96 CPS1 OTC
3 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 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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