CA5AD
MCID: CRB197
MIFTS: 57

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 56 29 6 71
Hyperammonemia Due to Carbonic Anhydrase Va Deficiency 56 73
Hyperammonemia 43 71
Ca5ad 56 73
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:

56
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 56 615751
MeSH 43 D022124
ICD10 via Orphanet 33 E74.8
Orphanet 58 ORPHA401948
UMLS 71 C0220994 C3810404

Summaries for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

OMIM : 56 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 hyperinsulinemic hypoglycemia, familial, 6 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. The drugs Glycerol and Insulin aspart have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and lung, and related phenotypes are global developmental delay and hypoglycemia

UniProtKB/Swiss-Prot : 73 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 295)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 6 33.5 NAGS GLUD1
2 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 32.8 SLC25A15 OTC NAGS CPS1 ASS1
3 ornithine transcarbamylase deficiency, hyperammonemia due to 32.1 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
4 lysinuric protein intolerance 31.9 OTC NAGS ASS1
5 hepatic encephalopathy 31.6 SLC25A13 ASS1
6 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 31.4 SLC25A20 SLC25A15 SLC25A13 OTC NAGS CPS1
7 propionic acidemia 31.3 OTC NAGS CPS1 ASS1
8 argininemia 30.6 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
9 reye syndrome 30.6 OTC ASS1
10 urea cycle disorder 30.3 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
11 argininosuccinic aciduria 30.2 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
12 citrullinemia, type ii, adult-onset 30.2 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
13 methylmalonic acidemia 30.1 OTC NAGS CPS1
14 isovaleric acidemia 30.0 NAGS CPS1
15 orotic aciduria 29.6 OTC NAGS CPS1 ASS1
16 citrullinemia, classic 28.4 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
17 transient hyperammonemia of the newborn 12.5
18 hyperlysinuria with hyperammonemia 12.3
19 n-acetylglutamate synthase deficiency 12.3
20 carbonic anhydrase va deficiency 12.0
21 carnitine-acylcarnitine translocase deficiency 11.7
22 gyrate atrophy of choroid and retina 11.7
23 rett syndrome 11.5
24 pyruvate carboxylase deficiency 11.4
25 combined oxidative phosphorylation deficiency 5 11.3
26 holocarboxylase synthetase deficiency 11.3
27 3-hydroxy-3-methylglutaryl-coa lyase deficiency 11.2
28 barth syndrome 11.2
29 mitochondrial complex v deficiency, nuclear type 5 11.2
30 adenosylcobalamin deficiency 11.2
31 aspartylglucosaminuria 11.2
32 carnitine deficiency, systemic primary 11.1
33 dihydrolipoamide dehydrogenase deficiency 11.1
34 methylmalonyl-coa epimerase deficiency 11.1
35 biotinidase deficiency 11.1
36 carnitine palmitoyltransferase ii deficiency, infantile 11.1
37 mitochondrial complex v deficiency, nuclear type 1 11.1
38 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 11.1
39 encephalopathy 10.9
40 hepatic coma 10.9
41 ocular motor apraxia 10.8
42 ornithinemia 10.7
43 hyperinsulinism 10.6
44 hypoglycemia 10.6
45 acute liver failure 10.6
46 liver cirrhosis 10.6
47 inherited metabolic disorder 10.5
48 liver disease 10.5
49 hyperinsulinemic hypoglycemia, familial, 5 10.4
50 hyperinsulinemic hypoglycemia, familial, 4 10.4

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:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 ASS1 CA5A CPS1 GLUD1 MFSD2A NAGS
2 mortality/aging MP:0010768 9.28 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 top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 4 56-81-5 753
2
Insulin aspart Approved Phase 4 116094-23-6 16132418
3
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173 46783403
4
Lactulose Approved Phase 4 4618-18-2 11333
5
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
6 Protective Agents Phase 4
7 4-phenylbutyric acid Phase 4
8 Neurotransmitter Agents Phase 4
9 N-Methylaspartate Phase 4
10 Liver Extracts Phase 4
11 Laxatives Phase 4
12 Cathartics Phase 4
13 Gastrointestinal Agents Phase 4
14 Polyethylene glycol 3350 Phase 4
15
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
16
Ornithine Approved, Nutraceutical Phase 3 70-26-8, 3184-13-2 6262
17 Psychotropic Drugs Phase 3
18 Anticonvulsants Phase 3
19 glutamine Phase 3
20
Norepinephrine Approved Phase 2 51-41-2 439260
21
Dobutamine Approved Phase 2 34368-04-2 36811
22
Acetaminophen Approved Phase 2 103-90-2 1983
23
carbamide peroxide Approved Phase 2 124-43-6
24
Phenylacetic acid Approved Phase 2 103-82-2 999
25
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
26
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
27
Acetohydroxamic acid Approved Phase 1, Phase 2 546-88-3 1990
28
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
29 Vasoconstrictor Agents Phase 2
30 Anti-Bacterial Agents Phase 2
31
Bilirubin Phase 2 69853-43-6, 635-65-4 21252250 5280352
32 Antibiotics, Antitubercular Phase 2
33 Antimetabolites Phase 2
34 Antifungal Agents Phase 2
35 Sodium Benzoate Phase 2
36 Anti-Infective Agents Phase 2
37 Pharmaceutical Solutions Phase 2
38
Sodium citrate Approved, Investigational Phase 1 68-04-2
39
Citric acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
40 Citrate Phase 1
41 Chelating Agents Phase 1
42 Anticoagulants Phase 1
43
Nitric Oxide Approved 10102-43-9 145068
44
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
45
Methylcobalamin Approved, Investigational 13422-55-4
46
Hydroxocobalamin Approved 13422-51-0 15589840 11953898
47
Metronidazole Approved 443-48-1 4173
48
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
49
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
50
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 An Open Label Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate (GPB; RAVICTI®) in Pediatric Subjects Under Two Years of Age With Urea Cycle Disorders (UCDs) Completed NCT02246218 Phase 4 RAVICTI
2 The Infusion of L-Ornithine L-aspart is as Effective as Nonabsorbable Disaccharides in the Management of Acute Hepatic Encephalopathy. Completed NCT01041755 Phase 4 L-ornithine-L-aspartate;Lactose
3 Long Term Use of HPN-100 in Urea Cycle Disorders Completed NCT01257737 Phase 4 HPN-100
4 Therapeutic Efficacy of Oral PEG3350 Plus Lactulose Versus Lactulose Alone in Patients of Acute on Chronic Liver Failure With Overt Hepatic Encephalopathy: A Single Blind Prospective Randomized Controlled Study Recruiting NCT03987893 Phase 4 PEG-3350 with Electolytes;Lactulose
5 Randomized Placebo Controlled Trial of Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Aged 2-15 Years Unknown status NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
6 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)
7 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
8 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
9 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Active, not recruiting NCT00843921 Phase 2, Phase 3 N-carbamylglutamate
10 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
11 Molecular Adsorbent Recirculating System (MARS®) for the Treatment of Patients With Hypoxic Hepatitis - a Prospective Randomized Controlled Clinical Study Unknown status NCT01690845 Phase 2
12 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
13 Hypothermia Treatment in Hyperammonemia and Encephalopathy Completed NCT01624311 Phase 2
14 A Phase 2a Study to Evaluate the Safety and Tolerability of OCR-002 (Ornithine Phenylacetate) in the Treatment of Patients With Acute Liver Failure/Severe Acute Liver Injury Completed NCT01548690 Phase 2 Ornithine Phenylacetate
15 A Randomized, Double-blind, Placebo-controlled Study to Assess the Safety, Tolerability, and Pharmacodynamics of SYNB1020 in Hepatic Insufficiency and Cirrhosis Patients Completed NCT03447730 Phase 1, Phase 2 SYNB1020
16 Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for Urea Cycle Disorders Completed NCT00004767 Phase 2 Sodium Benzoate;Sodium Phenylacetate;Sodium Phenylbutyrate
17 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
18 A Prospective, Open Label, Safety and Efficacy Study of Infusions of HepaStem in Urea Cycle Disorders Pediatric Patients Recruiting NCT03884959 Phase 2
19 Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Active, not recruiting NCT01599286 Phase 2 Carbaglu;Placebo;Standard of Care Treatment
20 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
21 Manipulating the Gut Microbiome Study Terminated NCT03181828 Phase 1, Phase 2 Acetohydroxamic Acid Oral Tablet [Lithostat]
22 A Phase 2, Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of Two Doses of AMMONUL® (Sodium Phenylacetate and Sodium Benzoate) Injection 10% / 10% in Subjects With Grade 3 or 4 Hepatic Encephalopathy Terminated NCT00597909 Phase 2 sodium phenylacetate and sodium benzoate injection 10% / 10%;sodium phenylacetate and sodium benzoate injection 10% / 10%;placebo solution (10% dextrose)
23 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Withdrawn NCT01341379 Phase 2 N-carbamylglutamate
24 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
25 Prevalence of Hypoglycemia and/or Hyperinsulinism/Hyperammonemia Syndrome in Patients With Idiopathic Seizures. Unknown status NCT00279851
26 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
27 Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI Completed NCT01569568
28 Effects of Parenteral L-carnitine Supplementation in Premature Neonates Completed NCT00841295 Parenteral L-carnitine supplementation;Parenteral supplementation with sterile water
29 Monitoring the Hyperammonaemia:TOXicity of Drugs (AmmoTOX) Recruiting NCT03947034 Drugs inducing hyperammonemia
30 Orphan Europe Carbaglu® Surveillance Protocol Recruiting NCT03409003
31 Late Evening and Early Morning Protein Supplement to Reduce Readmissions for Hepatic Encephalopathy Recruiting NCT04096014
32 Biomarkers for Inborn Errors of Metabolism: An International, Multicenter, Observational, Longitudinal Protocol Recruiting NCT04098198
33 Effect of Nitric Oxide (NO) Supplementation on Neurocognitive Measures in Argininosuccinate Lyase Deficiency (ASLD) Recruiting NCT03064048
34 Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders Recruiting NCT02935283
35 Role of Magnetic Resonance Imaging in Detection of Minimal Hepatic Encephalopathy Recruiting NCT04131205
36 Effect of Branched Chain Amino Acids Supplementation on Muscle Mass, Muscle Quality and Molecular Markers of Muscle Regeneration in Patients With Chronic Liver Disease - A Randomized Controlled Trial. Recruiting NCT04246918
37 Genetic Regulators of Metabolism and Development in Children Recruiting NCT02650622
38 In Living Donor Hepatectomy Cases, the Preoperative and Postoperative Relationship Between s100β, NSE and GFAP Levels and Postoperative Delirium Recruiting NCT04422925
39 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome Active, not recruiting NCT03797222
40 HMB for Denutrition in Patients With Cirrhosis (HEPATIC) Active, not recruiting NCT03285217
41 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®)
42 Early Postoperative Continuous Renal Replacement Therapy After Liver Transplantation in Acute-on-chronic Liver Failure Patients With Overt Hepatic Encephalopathy Not yet recruiting NCT04317222

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

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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, Lung, Kidney, Cerebellum, Cortex, Testes

Publications for Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to

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

(show top 50) (show all 3168)
# Title Authors PMID Year
1
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. 56 6 61
26913920 2016
2
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. 6 56 61
24530203 2014
3
Carbonic Anhydrase VA Deficiency 6 61
25834911 2015
4
Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency. 54 61
19533169 2010
5
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. 54 61
20004862 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
On the reversibility of glutamate dehydrogenase and the source of hyperammonemia in the hyperinsulinism/hyperammonemia syndrome. 54 61
19895831 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? 54 61
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. 54 61
19531491 2009
13
Y-box binding protein-1 down-regulates expression of carbamoyl phosphate synthetase-I by suppressing CCAAT enhancer-binding protein-alpha function in mice. 54 61
19272383 2009
14
Osmotic demyelination syndrome as a consequence of treating hyperammonemia in a patient with ornithine transcarbamylase deficiency. 54 61
19225137 2009
15
Lysine 88 acetylation negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals. 61 54
19318352 2009
16
Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene. 54 61
19475717 2009
17
Gut ammonia production and its modulation. 61 54
19067141 2009
18
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. 54 61
19006241 2009
19
Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase. 54 61
18321734 2008
20
Inborn errors of proline metabolism. 61 54
18806117 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. 61 54
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]. 61 54
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. 54 61
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. 61 54
17533029 2007
31
Transient hyperammonemia due to urea cycle enzyme deficiency in Irish wolfhounds. 61 54
17427379 2007
32
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency. 54 61
17310273 2007
33
Ornithine transcarbamylase deficiency presenting as encephalopathy during adulthood following bariatric surgery. 54 61
17210820 2007
34
Aminograms during continuous hemodiafiltration in the treatment of hyperammonemia due to ornithine transcarbamylase deficiency. 54 61
17763159 2007
35
Hyperinsulinism in infancy--genetic aspects. 54 61
17551476 2006
36
Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. 61 54
16786505 2006
37
Fatal cerebral edema from late-onset ornithine transcarbamylase deficiency in a juvenile male patient receiving valproic acid. 54 61
16575347 2006
38
Disorders of carnitine transport and the carnitine cycle. 54 61
16602102 2006
39
Green tea polyphenols modulate insulin secretion by inhibiting glutamate dehydrogenase. 54 61
16476731 2006
40
[A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency]. 54 61
16613706 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. 54 61
16492972 2006
42
A case of adult-onset type II citrullinemia--deterioration of clinical course after infusion of hyperosmotic and high sugar solutions. 54 61
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. 61 54
16126063 2005
46
Urinary uracil in female patients with ornithine transcarbamylase deficiency. 54 61
15910448 2005
47
Nitric oxide signaling gone awry: nitration of glutamine synthetase and hyperammonemia in sepsis. 54 61
15841446 2005
48
Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life. 61 54
15781198 2005
49
Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. 61 54
15878741 2005
50
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. 61 54
15714518 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 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OTC NM_000531.6(OTC):c.540+265G>ASNV Pathogenic 449382 rs1555975756 X:38260946-38260946 X:38401693-38401693
2 CA5A NC_000016.10:g.(?_87936289)_(87936470_?)deldeletion Pathogenic 584317 16:87969895-87970076 16:87936289-87936470
3 CA5A NM_001739.2(CA5A):c.94C>T (p.Arg32Ter)SNV Pathogenic 570252 rs767402215 16:87969963-87969963 16:87936357-87936357
4 MFSD2A NM_032793.5(MFSD2A):c.229-25_229-23deldeletion Pathogenic 684729 1:40424346-40424348 1:39958674-39958676
5 CA5A GRCh37/hg19 16q24.2(chr16:87969915-87970056)copy number loss Pathogenic 813300 16:87969915-87970056
6 CA5A NC_000016.10:g.(?_87888109)_(87891974_?)deldeletion Pathogenic 832363 16:87921715-87925580
7 CA5A NC_000016.10:g.(?_87904766)_(87904924_?)deldeletion Pathogenic 832389 16:87938372-87938530
8 CA5A NM_001739.2(CA5A):c.697T>C (p.Ser233Pro)SNV Pathogenic 127087 rs587777316 16:87925482-87925482 16:87891876-87891876
9 CA5A NM_001739.1(CA5A):c.619-3421_774+502del (p.Asp207_Gln258del)deletion Pathogenic 127089 16:87924903-87928981 16:87891297-87895395
10 CA5A NM_001739.2(CA5A):c.721G>A (p.Glu241Lys)SNV Likely pathogenic 388645 rs563971993 16:87925458-87925458 16:87891852-87891852
11 CA5A NM_001739.2(CA5A):c.555G>A (p.Lys185=)SNV Likely pathogenic 127088 rs147623570 16:87936031-87936031 16:87902425-87902425
12 SHANK3 NM_001372044.1(SHANK3):c.1797C>A (p.Cys599Ter)SNV Likely pathogenic 812791 22:51137191-51137191 22:50698763-50698763
13 PCCB NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg)SNV Conflicting interpretations of pathogenicity 343477 rs145628302 3:136047622-136047622 3:136328780-136328780
14 PCCB NM_000532.5(PCCB):c.763+10C>GSNV Conflicting interpretations of pathogenicity 523374 rs180982841 3:136012716-136012716 3:136293874-136293874
15 OTC NM_000531.6(OTC):c.1005+11A>TSNV Uncertain significance 523373 rs375524303 X:38271263-38271263 X:38412010-38412010
16 CA5A NM_001739.2(CA5A):c.676G>A (p.Asp226Asn)SNV Uncertain significance 835721 16:87925503-87925503 16:87891897-87891897
17 CA5A NM_001739.2(CA5A):c.646G>A (p.Asp216Asn)SNV Uncertain significance 858013 16:87925533-87925533 16:87891927-87891927
18 CA5A NM_001739.2(CA5A):c.595A>T (p.Ile199Phe)SNV Uncertain significance 857738 16:87935541-87935541 16:87901935-87901935
19 CA5A NM_001739.2(CA5A):c.271T>C (p.Ser91Pro)SNV Uncertain significance 863557 16:87960423-87960423 16:87926817-87926817
20 CA5A NM_001739.2(CA5A):c.110G>A (p.Arg37His)SNV Uncertain significance 840340 16:87969947-87969947 16:87936341-87936341
21 OTC NM_000531.6(OTC):c.374C>T (p.Thr125Met)SNV Uncertain significance 97175 rs72554356 X:38240670-38240670 X:38381417-38381417
22 CA5A NM_001739.2(CA5A):c.749A>G (p.Glu250Gly)SNV Likely benign 559305 rs146136907 16:87925430-87925430 16:87891824-87891824
23 CA5A NM_001739.2(CA5A):c.214A>C (p.Arg72=)SNV Likely benign 559307 rs150841082 16:87960480-87960480 16:87926874-87926874
24 CA5A NM_001739.2(CA5A):c.556C>T (p.Leu186Phe)SNV Likely benign 579278 rs375321548 16:87935580-87935580 16:87901974-87901974
25 CA5A NM_001739.2(CA5A):c.244C>A (p.Pro82Thr)SNV Likely benign 717957 16:87960450-87960450 16:87926844-87926844
26 CA5A NM_001739.2(CA5A):c.138C>A (p.Asn46Lys)SNV Benign 380536 rs74041853 16:87969919-87969919 16:87936313-87936313
27 CA5A NM_001739.2(CA5A):c.135T>A (p.Asn45Lys)SNV Benign 380517 rs77325391 16:87969922-87969922 16:87936316-87936316
28 CA5A NM_001739.2(CA5A):c.882G>A (p.Ala294=)SNV Benign 791684 16:87921771-87921771 16:87888165-87888165

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

73
# 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
13.61 SLC25A20 SLC25A15 SLC25A13 OTC NAGS MFSD2A
2
Show member pathways
13.31 SLC25A15 OTC NAGS GLUD1 CPS1 ASS1
3
Show member pathways
11.88 OTC NAGS GLUD1 CPS1 ASS1
4 11.58 OTC GLUD1 CPS1 ASS1
5 11.14 GLUD1 CPS1 ASS1
6
Show member pathways
11.01 GLUD1 CPS1 CA5A
7
Show member pathways
10.77 OTC NAGS GLUD1 CPS1 ASS1
8
Show member pathways
10.4 OTC NAGS GLUD1 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 inner membrane GO:0005743 9.55 SLC25A20 SLC25A15 SLC25A13 OTC CPS1
2 mitochondrial matrix GO:0005759 9.35 OTC NAGS GLUD1 CPS1 CA5A
3 mitochondrion GO:0005739 9.28 SLC25A20 SLC25A15 SLC25A13 OTC NAGS GLUD1

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 9.74 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 9.58 CPS1 ASS1
5 cellular amino acid biosynthetic process GO:0008652 9.58 OTC GLUD1 ASS1
6 response to amino acid GO:0043200 9.56 CPS1 ASS1
7 cellular amino acid metabolic process GO:0006520 9.55 OTC GLUD1
8 response to steroid hormone GO:0048545 9.54 CPS1 ASS1
9 cellular response to glucagon stimulus GO:0071377 9.52 CPS1 ASS1
10 glutamine metabolic process GO:0006541 9.51 GLUD1 CPS1
11 response to growth hormone GO:0060416 9.49 CPS1 ASS1
12 response to amine GO:0014075 9.48 CPS1 ASS1
13 citrulline biosynthetic process GO:0019240 9.43 OTC CPS1
14 response to zinc ion GO:0010043 9.43 OTC CPS1 ASS1
15 cellular response to oleic acid GO:0071400 9.37 CPS1 ASS1
16 midgut development GO:0007494 9.33 OTC CPS1 ASS1
17 anion homeostasis GO:0055081 9.32 OTC CPS1
18 arginine biosynthetic process GO:0006526 9.13 OTC NAGS ASS1
19 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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