CA5AD
MCID: CRB197
MIFTS: 57

Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to (CA5AD)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Respiratory 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 70
Hyperammonemia Due to Carbonic Anhydrase Va Deficiency 57 72
Hyperammonemia 44 70
Ca5ad 57 72
Hyperammonemic Encephalopathy Due to Carbonic Anhydrase Va Deficiency 58
Ca-Va Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
hyperammonemic encephalopathy due to carbonic anhydrase va deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
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:

31
carbonic anhydrase va deficiency, hyperammonemia due to:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM® 57 615751
MeSH 44 D022124
ICD10 via Orphanet 33 E74.8
Orphanet 58 ORPHA401948
UMLS 70 C0220994 C3810404

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) (Updated 20-May-2021)

MalaCards based summary : Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to, also known as hyperammonemia due to carbonic anhydrase va deficiency, is related to carbamoyl phosphate synthetase i deficiency, hyperammonemia due to and lysinuric protein intolerance, 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 Carbon metabolism. The drugs 4-phenylbutyric acid and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and kidney, and related phenotypes are global developmental delay and hypoglycemia

UniProtKB/Swiss-Prot : 72 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 294)
# Related Disease Score Top Affiliating Genes
1 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 31.1 SLC25A15 OTC NAGS CPS1 CA5A ASS1
2 lysinuric protein intolerance 31.1 OTC NAGS ASS1
3 hepatic encephalopathy 31.0 SLC25A13 ASS1
4 carnitine deficiency, systemic primary 30.7 SLC25A20 SLC25A13
5 propionic acidemia 30.6 OTC NAGS CPS1 ASS1
6 reye syndrome 30.5 OTC ASS1
7 ornithine transcarbamylase deficiency, hyperammonemia due to 30.5 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
8 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 30.5 SLC25A20 SLC25A15 SLC25A13 OTC NAGS CPS1
9 argininemia 30.0 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
10 methylmalonic acidemia 29.9 OTC NAGS CPS1
11 brain edema 29.8 SLC25A13 OTC
12 citrullinemia, type ii, adult-onset 29.8 SLC25A15 SLC25A13 NAGS CPS1 ASS1
13 isovaleric acidemia 29.7 NAGS CPS1
14 argininosuccinic aciduria 29.6 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
15 orotic aciduria 29.5 OTC NAGS CPS1 ASS1
16 urea cycle disorder 29.5 SLC25A15 SLC25A13 OTC NAGS CPS1 CA5A
17 citrullinemia, classic 28.5 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
18 hyperinsulinemic hypoglycemia, familial, 6 11.7
19 carbonic anhydrase va deficiency 11.7
20 n-acetylglutamate synthase deficiency 11.6
21 transient hyperammonemia of the newborn 11.2
22 carnitine-acylcarnitine translocase deficiency 11.2
23 gyrate atrophy of choroid and retina 11.1
24 holocarboxylase synthetase deficiency 11.1
25 combined oxidative phosphorylation deficiency 5 11.0
26 3-hydroxy-3-methylglutaryl-coa lyase deficiency 11.0
27 barth syndrome 11.0
28 mitochondrial complex v deficiency, nuclear type 5 11.0
29 adenosylcobalamin deficiency 11.0
30 hyperlysinuria with hyperammonemia 10.9
31 rett syndrome 10.9
32 aspartylglucosaminuria 10.9
33 pyruvate carboxylase deficiency 10.9
34 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.8
35 dihydrolipoamide dehydrogenase deficiency 10.8
36 methylmalonyl-coa epimerase deficiency 10.8
37 biotinidase deficiency 10.8
38 carnitine palmitoyltransferase ii deficiency, infantile 10.8
39 mitochondrial complex v deficiency, nuclear type 1 10.8
40 encephalopathy 10.8
41 hepatic coma 10.8
42 liver disease 10.7
43 ocular motor apraxia 10.6
44 ornithinemia 10.6
45 liver cirrhosis 10.5
46 hypoglycemia 10.5
47 hyperinsulinism 10.5
48 acute liver failure 10.5
49 inherited metabolic disorder 10.4
50 hyperinsulinemic hypoglycemia, familial, 5 10.3

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:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 occasional (7.5%) HP:0001263
2 hypoglycemia 31 HP:0001943
3 increased serum lactate 31 HP:0002151
4 hyperammonemia 31 HP:0001987
5 lethargy 31 HP:0001254
6 lactic acidosis 31 HP:0003128
7 metabolic acidosis 31 HP:0001942
8 tachypnea 31 HP:0002789
9 hyperalaninemia 31 HP:0003348
10 ketonuria 31 HP:0002919
11 ketoacidosis 31 HP:0001993
12 respiratory alkalosis 31 HP:0001950

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 ASS1 CPS1 MFSD2A NAGS OTC SHANK3
2 homeostasis/metabolism MP:0005376 9.61 ASS1 CA5A CPS1 MFSD2A NAGS OTC
3 mortality/aging MP:0010768 9.32 ASS1 CA5A CPS1 MFSD2A NAGS OTC

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

Drugs for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 4-phenylbutyric acid Phase 4
2
Glycerol Approved, Investigational Phase 3 56-81-5 753
3
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
4
Phenylacetic acid Approved Phase 3 103-82-2 999
5
Rifaximin Approved, Investigational Phase 3 80621-81-4 6436173 46783403
6
Lactulose Approved Phase 3 4618-18-2 11333
7
Ornithine Approved, Nutraceutical Phase 3 70-26-8, 3184-13-2 6262
8 Protective Agents Phase 3
9 glutamine Phase 3
10 Antimetabolites Phase 3
11
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
12
Sodium citrate Approved, Investigational Phase 1 68-04-2
13
Citric acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
14 Anticoagulants Phase 1
15 Chelating Agents Phase 1
16 Citrate Phase 1
17 Calcium, Dietary Phase 1
18
Calcium Nutraceutical Phase 1 7440-70-2 271
19
Tocopherol Approved, Investigational 1406-66-2
20
Clotrimazole Approved, Vet_approved 23593-75-1 2812
21
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
22
Metronidazole Approved 443-48-1 4173
23
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
24
Methylcobalamin Approved, Investigational 13422-55-4
25
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
26
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
27 Tocotrienol Investigational 6829-55-6
28
Cobalamin Experimental 13408-78-1 6857388
29 Micronutrients
30 Trace Elements
31 Nutrients
32 Antioxidants
33 Tocotrienols
34 Tocopherols
35 Liver Extracts
36 Antifungal Agents
37 Anti-Infective Agents
38 Sodium Benzoate
39 Vitamins
40 Vitamin B Complex
41 carnitine
42 Vitamin B 12
43 Vitamin B12

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Long Term Use of HPN-100 in Urea Cycle Disorders Completed NCT01257737 Phase 4 HPN-100
2 A Phase 3, Randomized, Double-Blind, Cross-Over, Active-Controlled Study of the Efficacy and Safety of HPN-100, Glyceryl Tri-(4-phenylbutyrate), for the Treatment of Adults With Urea Cycle Disorders (Help UCD) Completed NCT00992459 Phase 3 HPN-100;Buphenyl (NaPBA)
3 A Switch-Over, Open-Label Study of the Safety, Pharmacokinetics, and Efficacy of HPN-100, Followed by Long-Term Treatment With HPN-100, in Pediatric Subjects Under 6 Years of Age With Urea Cycle Disorders (UCDs) Completed NCT01347073 Phase 3 HPN-100
4 A Phase 3, Open-Label Study of the Safety of HPN-100 for the Long-Term Treatment of Urea Cycle Disorders (Treat UCD) Completed NCT00947297 Phase 3 HPN-100
5 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Active, not recruiting NCT00843921 Phase 2, Phase 3 N-carbamylglutamate
6 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Phase 3 Study to Evaluate the Efficacy, Safety, and Tolerability of MNK6105 (an Intravenous Formulation of L-Ornithine Phenylacetate) in Hospitalized Patients With Cirrhosis and Hyperammonemia Associated With an Episode of Hepatic Encephalopathy Not yet recruiting NCT04128462 Phase 3 MNK-6105;Placebo;Standard of Care
7 A Phase 2, Fixed-Sequence, Open-Label, Switch-Over Study of the Safety and Tolerability of HPN-100 Compared to Sodium Phenylbutyrate in Children 6-17 Years of Age With Urea Cycle Disorders, With a Long-Term Safety Extension Completed NCT00947544 Phase 2 HPN-100;NaPBA
8 Multicenter, Randomized Phase 2B Study to Evaluate the Efficacy, Safety and Tolerability of OCR-002 (Ornithine Phenylacetate) in Hospitalized Patients With Cirrhosis and Associated Hyperammonemia With an Episode of Hepatic Encephalopathy (STOP-HE Study) Completed NCT01966419 Phase 2 ornithine phenylacetate;placebo intravenous infusion
9 Hypothermia Treatment in Hyperammonemia and Encephalopathy Completed NCT01624311 Phase 2
10 Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Completed NCT01599286 Phase 2 Carbaglu;Placebo
11 Safety & Efficacy of Investigational Products: Ornithine Alpha-ketoglutarate, Glutamine, or Disodium Citrate on Hyperammonemia in Propionic Acidemia. Completed NCT00645879 Phase 1 ornithine alpha ketoglutarate;glutamine;disodium citrate
12 Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI Completed NCT01569568
13 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome Completed NCT03797222
14 Efficacy and Safety of Sodium Benzoate in the Management of Hyperammonemia in Infants, Children and Adolescents With Chronic Liver Disese - A Randomised Controlled Trial. Completed NCT04022941 Sodium Benzoate
15 Monitoring the Hyperammonaemia:TOXicity of Drugs (AmmoTOX) Recruiting NCT03947034 Drugs inducing hyperammonemia
16 Systemic Biomarkers of Brain Injury From Hyperammonemia Recruiting NCT04602325
17 Evaluate the Long Term Effectiveness & Safety of the Use of Carglumic Acid (Carbaglu®) in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA). Enrolling by invitation NCT04284917 Carglumic Acid (Carbaglu®)
18 Prevalence of Hypoglycemia and/or Hyperinsulinism/Hyperammonemia Syndrome in Patients With Idiopathic Seizures. Withdrawn NCT00279851

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

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Carglumic acid

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

MalaCards organs/tissues related to Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to:

40
Liver, Brain, Kidney, Cerebellum, Cortex, Colon, Skeletal Muscle

Publications for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

Articles related to Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to:

(show top 50) (show all 3329)
# Title Authors PMID Year
1
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. 57 6 61
26913920 2016
2
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. 61 57 6
24530203 2014
3
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
4
Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency. 61 54
19533169 2010
5
On the reversibility of glutamate dehydrogenase and the source of hyperammonemia in the hyperinsulinism/hyperammonemia syndrome. 61 54
19895831 2010
6
Quantitation of orotic acid in urine using isotope dilution-selected ion gas chromatography-mass spectrometry. 61 54
20077096 2010
7
Conventional diet therapy for hyperammonemia is risky in the treatment of hepatic encephalopathy associated with citrin deficiency. 61 54
20118603 2010
8
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. 61 54
20004862 2010
9
A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age. 54 61
19167850 2009
10
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression? 61 54
19793055 2009
11
AAV2/8-mediated correction of OTC deficiency is robust in adult but not neonatal Spf(ash) mice. 61 54
19384294 2009
12
Novel inhibitors complexed with glutamate dehydrogenase: allosteric regulation by control of protein dynamics. 61 54
19531491 2009
13
Osmotic demyelination syndrome as a consequence of treating hyperammonemia in a patient with ornithine transcarbamylase deficiency. 61 54
19225137 2009
14
Y-box binding protein-1 down-regulates expression of carbamoyl phosphate synthetase-I by suppressing CCAAT enhancer-binding protein-alpha function in mice. 61 54
19272383 2009
15
Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene. 54 61
19475717 2009
16
Lysine 88 acetylation negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals. 54 61
19318352 2009
17
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. 54 61
19006241 2009
18
Gut ammonia production and its modulation. 61 54
19067141 2009
19
Inborn errors of proline metabolism. 61 54
18806117 2008
20
Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase. 61 54
18321734 2008
21
Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male. 61 54
19669271 2008
22
N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers. 61 54
18414145 2008
23
Polar body-based preimplantation genetic diagnosis for N-acetylglutamate synthase deficiency. 54 61
18753752 2008
24
High throughput screening reveals several new classes of glutamate dehydrogenase inhibitors. 54 61
18044977 2007
25
Fatal initial adult-onset presentation of urea cycle defect. 61 54
18071043 2007
26
[Urea cycle disorders in adult patients]. 54 61
18033025 2007
27
Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency. 54 61
17591776 2007
28
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. 61 54
17326097 2007
29
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. 54 61
17376816 2007
30
Portosystemic encephalopathy in a patient treated with peritoneal dialysis. 54 61
17533029 2007
31
Transient hyperammonemia due to urea cycle enzyme deficiency in Irish wolfhounds. 61 54
17427379 2007
32
Aminograms during continuous hemodiafiltration in the treatment of hyperammonemia due to ornithine transcarbamylase deficiency. 61 54
17763159 2007
33
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency. 61 54
17310273 2007
34
Ornithine transcarbamylase deficiency presenting as encephalopathy during adulthood following bariatric surgery. 54 61
17210820 2007
35
Hyperinsulinism in infancy--genetic aspects. 61 54
17551476 2006
36
Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. 54 61
16786505 2006
37
Fatal cerebral edema from late-onset ornithine transcarbamylase deficiency in a juvenile male patient receiving valproic acid. 61 54
16575347 2006
38
Disorders of carnitine transport and the carnitine cycle. 61 54
16602102 2006
39
[A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency]. 61 54
16613706 2006
40
Green tea polyphenols modulate insulin secretion by inhibiting glutamate dehydrogenase. 61 54
16476731 2006
41
Unregulated insulin secretion by pancreatic beta cells in hyperinsulinism/hyperammonemia syndrome: role of glutamate dehydrogenase, ATP-sensitive potassium channel, and nonselective cation channel. 61 54
16492972 2006
42
A case of adult-onset type II citrullinemia--deterioration of clinical course after infusion of hyperosmotic and high sugar solutions. 61 54
16449956 2006
43
Current role of liver transplantation for the treatment of urea cycle disorders: a review of the worldwide English literature and 13 cases at Kyoto University. 61 54
16237708 2005
44
Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier. 54 61
16199199 2005
45
Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test. 54 61
16126063 2005
46
Urinary uracil in female patients with ornithine transcarbamylase deficiency. 61 54
15910448 2005
47
Nitric oxide signaling gone awry: nitration of glutamine synthetase and hyperammonemia in sepsis. 61 54
15841446 2005
48
Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. 61 54
15878741 2005
49
Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life. 61 54
15781198 2005
50
Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations. 61 54
15756227 2005

Variations for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

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

6 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CA5A NC_000016.10:g.(?_87936289)_(87936470_?)del Deletion Pathogenic 584317 GRCh37: 16:87969895-87970076
GRCh38: 16:87936289-87936470
2 CA5A NM_001739.2(CA5A):c.94C>T (p.Arg32Ter) SNV Pathogenic 570252 rs767402215 GRCh37: 16:87969963-87969963
GRCh38: 16:87936357-87936357
3 CA5A GRCh37/hg19 16q24.2(chr16:87969915-87970056) copy number loss Pathogenic 813300 GRCh37: 16:87969915-87970056
GRCh38:
4 CA5A NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) SNV Pathogenic 388645 rs563971993 GRCh37: 16:87925458-87925458
GRCh38: 16:87891852-87891852
5 MFSD2A NM_032793.5(MFSD2A):c.229-25_229-23del Deletion Pathogenic 684729 rs1570238098 GRCh37: 1:40424346-40424348
GRCh38: 1:39958674-39958676
6 CA5A NM_001739.2(CA5A):c.697T>C (p.Ser233Pro) SNV Pathogenic 127087 rs587777316 GRCh37: 16:87925482-87925482
GRCh38: 16:87891876-87891876
7 CA5A NM_001739.2(CA5A):c.555G>A (p.Lys185=) SNV Pathogenic 127088 rs147623570 GRCh37: 16:87936031-87936031
GRCh38: 16:87902425-87902425
8 CA5A NM_001739.1(CA5A):c.619-3421_774+502del (p.Asp207_Gln258del) Deletion Pathogenic 127089 GRCh37: 16:87924903-87928981
GRCh38: 16:87891297-87895395
9 OTC NM_000531.6(OTC):c.540+265G>A SNV Pathogenic 449382 rs1555975756 GRCh37: X:38260946-38260946
GRCh38: X:38401693-38401693
10 CA5A NC_000016.10:g.(?_87904766)_(87904924_?)del Deletion Pathogenic 832389 GRCh37: 16:87938372-87938530
GRCh38:
11 CA5A NC_000016.10:g.(?_87888109)_(87891974_?)del Deletion Pathogenic 832363 GRCh37: 16:87921715-87925580
GRCh38:
12 CA5A NM_001739.2(CA5A):c.580C>T (p.Gln194Ter) SNV Likely pathogenic 973554 GRCh37: 16:87935556-87935556
GRCh38: 16:87901950-87901950
13 SHANK3 NM_001372044.1(SHANK3):c.1797C>A (p.Cys599Ter) SNV Likely pathogenic 812791 rs377573165 GRCh37: 22:51137191-51137191
GRCh38: 22:50698763-50698763
14 CA5A NM_001739.2(CA5A):c.110G>A (p.Arg37His) SNV Uncertain significance 840340 GRCh37: 16:87969947-87969947
GRCh38: 16:87936341-87936341
15 CA5A NM_001739.2(CA5A):c.595A>T (p.Ile199Phe) SNV Uncertain significance 857738 GRCh37: 16:87935541-87935541
GRCh38: 16:87901935-87901935
16 CA5A NM_001739.2(CA5A):c.271T>C (p.Ser91Pro) SNV Uncertain significance 863557 GRCh37: 16:87960423-87960423
GRCh38: 16:87926817-87926817
17 CA5A NM_001739.2(CA5A):c.473A>C (p.His158Pro) SNV Uncertain significance 946825 GRCh37: 16:87936113-87936113
GRCh38: 16:87902507-87902507
18 CA5A NM_001739.2(CA5A):c.767_774+13del Deletion Uncertain significance 962096 GRCh37: 16:87925392-87925412
GRCh38: 16:87891786-87891806
19 CA5A NM_001739.2(CA5A):c.512T>C (p.Val171Ala) SNV Uncertain significance 1054883 GRCh37: 16:87936074-87936074
GRCh38: 16:87902468-87902468
20 CA5A NM_001739.2(CA5A):c.676G>A (p.Asp226Asn) SNV Uncertain significance 835721 GRCh37: 16:87925503-87925503
GRCh38: 16:87891897-87891897
21 CA5A NM_001739.2(CA5A):c.646G>A (p.Asp216Asn) SNV Uncertain significance 858013 GRCh37: 16:87925533-87925533
GRCh38: 16:87891927-87891927
22 CA5A NM_001739.2(CA5A):c.629C>T (p.Ala210Val) SNV Uncertain significance 1034862 GRCh37: 16:87925550-87925550
GRCh38: 16:87891944-87891944
23 CA5A NM_001739.2(CA5A):c.427C>G (p.His143Asp) SNV Uncertain significance 1040930 GRCh37: 16:87938424-87938424
GRCh38: 16:87904818-87904818
24 CA5A NM_001739.2(CA5A):c.575C>T (p.Thr192Met) SNV Uncertain significance 1041319 GRCh37: 16:87935561-87935561
GRCh38: 16:87901955-87901955
25 OTC NM_000531.6(OTC):c.1005+11A>T SNV Uncertain significance 523373 rs375524303 GRCh37: X:38271263-38271263
GRCh38: X:38412010-38412010
26 PCCB NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) SNV Uncertain significance 343477 rs145628302 GRCh37: 3:136047622-136047622
GRCh38: 3:136328780-136328780
27 PCCB NM_000532.5(PCCB):c.763+10C>G SNV Uncertain significance 523374 rs180982841 GRCh37: 3:136012716-136012716
GRCh38: 3:136293874-136293874
28 OTC NM_000531.6(OTC):c.374C>T (p.Thr125Met) SNV Uncertain significance 97175 rs72554356 GRCh37: X:38240670-38240670
GRCh38: X:38381417-38381417
29 CA5A NM_001739.2(CA5A):c.214A>C (p.Arg72=) SNV Likely benign 559307 rs150841082 GRCh37: 16:87960480-87960480
GRCh38: 16:87926874-87926874
30 CA5A NM_001739.2(CA5A):c.749A>G (p.Glu250Gly) SNV Likely benign 559305 rs146136907 GRCh37: 16:87925430-87925430
GRCh38: 16:87891824-87891824
31 CA5A NM_001739.2(CA5A):c.556C>T (p.Leu186Phe) SNV Likely benign 579278 rs375321548 GRCh37: 16:87935580-87935580
GRCh38: 16:87901974-87901974
32 CA5A NM_001739.2(CA5A):c.244C>A (p.Pro82Thr) SNV Likely benign 717957 rs377135599 GRCh37: 16:87960450-87960450
GRCh38: 16:87926844-87926844
33 CA5A NM_001739.2(CA5A):c.882G>A (p.Ala294=) SNV Benign 791684 rs150891997 GRCh37: 16:87921771-87921771
GRCh38: 16:87888165-87888165
34 CA5A NM_001739.2(CA5A):c.138C>A (p.Asn46Lys) SNV Benign 380536 rs74041853 GRCh37: 16:87969919-87969919
GRCh38: 16:87936313-87936313
35 CA5A NM_001739.2(CA5A):c.135T>A (p.Asn45Lys) SNV Benign 380517 rs77325391 GRCh37: 16:87969922-87969922
GRCh38: 16:87936316-87936316

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

72
# Symbol AA change Variation ID SNP ID
1 CA5A p.Ser233Pro VAR_071188 rs587777316

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
13.56 SLC25A20 SLC25A15 SLC25A13 OTC NAGS MFSD2A
2
Show member pathways
11.78 OTC NAGS CPS1 ASS1
3 11.46 OTC CPS1 ASS1
4 10.97 CPS1 ASS1
5
Show member pathways
10.83 CPS1 CA5A
6
Show member pathways
10.69 OTC NAGS CPS1 ASS1
7
Show member pathways
10.3 OTC NAGS CPS1 ASS1

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 OTC NAGS CPS1 CA5A
2 mitochondrial inner membrane GO:0005743 9.35 SLC25A20 SLC25A15 SLC25A13 OTC CPS1
3 mitochondrion GO:0005739 9.23 SLC25A20 SLC25A15 SLC25A13 OTC NAGS CPS1

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 9.73 OTC CPS1 ASS1
2 liver development GO:0001889 9.63 OTC CPS1 ASS1
3 response to glucocorticoid GO:0051384 9.58 CPS1 ASS1
4 cellular response to cAMP GO:0071320 9.57 CPS1 ASS1
5 cellular amino acid biosynthetic process GO:0008652 9.55 OTC ASS1
6 response to amino acid GO:0043200 9.54 CPS1 ASS1
7 response to steroid hormone GO:0048545 9.52 CPS1 ASS1
8 cellular response to glucagon stimulus GO:0071377 9.51 CPS1 ASS1
9 response to growth hormone GO:0060416 9.49 CPS1 ASS1
10 response to amine GO:0014075 9.48 CPS1 ASS1
11 cellular response to ammonium ion GO:0071242 9.43 CPS1 ASS1
12 response to zinc ion GO:0010043 9.43 OTC CPS1 ASS1
13 citrulline biosynthetic process GO:0019240 9.4 OTC CPS1
14 cellular response to oleic acid GO:0071400 9.37 CPS1 ASS1
15 midgut development GO:0007494 9.33 OTC CPS1 ASS1
16 anion homeostasis GO:0055081 9.32 OTC CPS1
17 arginine biosynthetic process GO:0006526 9.13 OTC NAGS ASS1
18 urea cycle GO:0000050 9.02 SLC25A15 OTC NAGS CPS1 ASS1

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 amino acid binding GO:0016597 8.62 OTC ASS1

Sources for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....