CA5AD
MCID: CRB197
MIFTS: 56

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 57 29 6 72
Hyperammonemia Due to Carbonic Anhydrase Va Deficiency 57 74
Hyperammonemia 44 72
Ca5ad 57 74
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:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 615751
MeSH 44 D022124
ICD10 via Orphanet 34 E74.8
Orphanet 59 ORPHA401948
UMLS 72 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)

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. The drugs carbamide peroxide and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and cerebellum, and related phenotypes are global developmental delay and hypoglycemia

UniProtKB/Swiss-Prot : 74 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 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 33.1 SLC25A15 OTC NAGS CPS1
2 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 32.9 OTC NAGS CPS1 ASS1
3 ornithine transcarbamylase deficiency, hyperammonemia due to 31.6 SLC25A13 OTC NAGS CPS1 ASS1
4 citrullinemia, type ii, adult-onset 31.6 SLC25A13 ASS1
5 argininemia 31.3 OTC NAGS CPS1 ASS1
6 holocarboxylase synthetase deficiency 31.2 SLC25A20 SLC25A13
7 reye syndrome 30.8 OTC ASS1
8 argininosuccinic aciduria 30.6 SLC25A13 OTC NAGS ASS1
9 orotic aciduria 30.4 OTC ASS1
10 brain edema 29.9 SLC25A13 OTC
11 autosomal recessive disease 29.3 SLC25A13 ASS1
12 urea cycle disorder 29.3 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
13 propionic acidemia 28.8 SLC25A13 OTC NAGS ASS1
14 citrullinemia, classic 28.3 SLC25A15 SLC25A13 OTC NAGS ASS1
15 transient hyperammonemia of the newborn 12.5
16 hyperinsulinemic hypoglycemia, familial, 6 12.4
17 hyperlysinuria with hyperammonemia 12.3
18 n-acetylglutamate synthase deficiency 12.3
19 mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia 12.2
20 carbonic anhydrase va deficiency 12.0
21 carnitine-acylcarnitine translocase deficiency 11.7
22 gyrate atrophy of choroid and retina 11.7
23 hepatic encephalopathy 11.6
24 rett syndrome 11.5
25 lysinuric protein intolerance 11.4
26 pyruvate carboxylase deficiency 11.4
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 vitamin b12-responsive methylmalonic acidemia 11.2
31 aspartylglucosaminuria 11.2
32 combined oxidative phosphorylation deficiency 5 11.2
33 carnitine deficiency, systemic primary 11.1
34 dihydrolipoamide dehydrogenase deficiency 11.1
35 methylmalonyl-coa epimerase deficiency 11.1
36 biotinidase deficiency 11.1
37 carnitine palmitoyltransferase ii deficiency, infantile 11.1
38 mitochondrial complex v deficiency, nuclear type 1 11.1
39 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 11.1
40 encephalopathy 10.9
41 hepatic coma 10.9
42 ocular motor apraxia 10.8
43 ornithinemia 10.7
44 hyperinsulinism 10.6
45 hypoglycemia 10.6
46 liver cirrhosis 10.6
47 acute liver failure 10.6
48 inherited metabolic disorder 10.5
49 liver disease 10.4
50 hyperinsulinemic hypoglycemia, familial, 5 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:

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

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

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 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

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

(show top 50) (show all 76)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved Phase 4 124-43-6
2
Glycerol Approved, Investigational Phase 4 56-81-5 753
3
Insulin Aspart Approved Phase 4 116094-23-6 16132418
4
Lactulose Approved Phase 4 4618-18-2 11333
5
Rifaximin Approved, Investigational Phase 4 80621-81-4 46783403 6436173
6
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
7 Protective Agents Phase 4
8 4-phenylbutyric acid Phase 4
9 Neurotransmitter Agents Phase 4
10 N-Methylaspartate Phase 4
11 Excitatory Amino Acids Phase 4
12 Excitatory Amino Acid Agonists Phase 4
13 Liver Extracts Phase 4
14 Gastrointestinal Agents Phase 4
15 Cathartics Phase 4
16 Laxatives Phase 4
17 Polyethylene glycol 3350 Phase 4
18
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
19 Tranquilizing Agents Phase 3
20 Central Nervous System Depressants Phase 3
21 GABA Agents Phase 3
22 Antimanic Agents Phase 3
23 Psychotropic Drugs Phase 3
24 Anticonvulsants Phase 3
25 glutamine Phase 3
26
Norepinephrine Approved Phase 2 51-41-2 439260
27
Dobutamine Approved Phase 2 34368-04-2 36811
28
Acetaminophen Approved Phase 2 103-90-2 1983
29
Phenylacetic acid Approved Phase 2 103-82-2 999
30
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
31
Acetohydroxamic acid Approved Phase 1, Phase 2 546-88-3 1990
32
Ornithine Approved, Nutraceutical Phase 2 70-26-8, 3184-13-2 6262
33
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
34 Anti-Bacterial Agents Phase 2
35 Antibiotics, Antitubercular Phase 2
36 Vasoconstrictor Agents Phase 2
37
Bilirubin Phase 2 635-65-4, 69853-43-6 5280352 21252250
38 Antimetabolites Phase 2
39 Antimetabolites, Antineoplastic Phase 2
40 Sodium Benzoate Phase 2
41 Antifungal Agents Phase 2
42 Anti-Infective Agents Phase 2
43 Pharmaceutical Solutions Phase 2
44
Sodium citrate Approved, Investigational Phase 1 68-04-2
45
Citric acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
46 Citrate Phase 1
47 Chelating Agents Phase 1
48 Anticoagulants Phase 1
49
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
50
Nitric Oxide Approved 10102-43-9 145068

Interventional clinical trials:

(show all 37)
# 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 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Completed NCT00843921 Phase 2, Phase 3 N-carbamylglutamate
7 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)
8 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
9 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
10 Molecular Adsorbent Recirculating System (MARS®) for the Treatment of Patients With Hypoxic Hepatitis - a Prospective Randomized Controlled Clinical Study Unknown status NCT01690845 Phase 2
11 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
12 Hypothermia Treatment in Hyperammonemia and Encephalopathy Completed NCT01624311 Phase 2
13 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
14 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
15 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
16 A Randomized, Double-blind, Placebo-controlled Study to Assess the Safety, Tolerability, and Pharmacodynamics of SYNB1020 in Hepatic Insufficiency and Cirrhosis Patients Recruiting NCT03447730 Phase 1, Phase 2 SYNB1020
17 A Prospective, Open Label, Safety and Efficacy Study of Infusions of HepaStem in Urea Cycle Disorders Pediatric Patients Recruiting NCT03884959 Phase 2
18 Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Active, not recruiting NCT01599286 Phase 2 Carbaglu;Placebo;Standard of Care Treatment
19 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
20 Manipulating the Gut Microbiome Study Terminated NCT03181828 Phase 1, Phase 2 Acetohydroxamic Acid Oral Tablet [Lithostat]
21 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)
22 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Withdrawn NCT01341379 Phase 2 N-carbamylglutamate
23 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
24 Prevalence of Hypoglycemia and/or Hyperinsulinism/Hyperammonemia Syndrome in Patients With Idiopathic Seizures. Unknown status NCT00279851
25 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
26 Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI Completed NCT01569568
27 Influence of OCTN2 Variants on Carnitine Status and Plasma Triglycerides Completed NCT00187733
28 Effects of Parenteral L-carnitine Supplementation in Premature Neonates Completed NCT00841295 Parenteral L-carnitine supplementation;Parenteral supplementation with sterile water
29 Fat and Carbohydrate Metabolism During Exercise, With and Without L-carnitine Supplementation in Patients With Carnitine Transporter Deficiency Completed NCT02226419
30 Monitoring the Hyperammonaemia:TOXicity of Drugs (AmmoTOX) Recruiting NCT03947034 Drugs inducing hyperammonemia
31 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome Recruiting NCT03797222
32 Orphan Europe Carbaglu® Surveillance Protocol Recruiting NCT03409003
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 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
36 Genetic Regulators of Metabolism and Development in Children Recruiting NCT02650622
37 HMB for Denutrition in Patients With Cirrhosis (HEPATIC) Active, not recruiting NCT03285217

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

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Carglumic acid
Carglumic acid
L-Arginine
Phenylacetic 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:

41
Liver, Brain, Cerebellum, Lung, Kidney, 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 3030)
# Title Authors PMID Year
1
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. 38 8 71
26913920 2016
2
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. 38 8 71
24530203 2014
3
Carbonic Anhydrase VA Deficiency 38 71
25834911 2015
4
Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency. 9 38
19533169 2010
5
Conventional diet therapy for hyperammonemia is risky in the treatment of hepatic encephalopathy associated with citrin deficiency. 9 38
20118603 2010
6
Quantitation of orotic acid in urine using isotope dilution-selected ion gas chromatography-mass spectrometry. 9 38
20077096 2010
7
On the reversibility of glutamate dehydrogenase and the source of hyperammonemia in the hyperinsulinism/hyperammonemia syndrome. 9 38
19895831 2010
8
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. 9 38
20004862 2010
9
A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age. 9 38
19167850 2009
10
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression? 9 38
19793055 2009
11
AAV2/8-mediated correction of OTC deficiency is robust in adult but not neonatal Spf(ash) mice. 9 38
19384294 2009
12
Novel inhibitors complexed with glutamate dehydrogenase: allosteric regulation by control of protein dynamics. 9 38
19531491 2009
13
Osmotic demyelination syndrome as a consequence of treating hyperammonemia in a patient with ornithine transcarbamylase deficiency. 9 38
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. 9 38
19272383 2009
15
Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene. 9 38
19475717 2009
16
Lysine 88 acetylation negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals. 9 38
19318352 2009
17
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. 9 38
19006241 2009
18
Gut ammonia production and its modulation. 9 38
19067141 2009
19
Inborn errors of proline metabolism. 9 38
18806117 2008
20
Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase. 9 38
18321734 2008
21
Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male. 9 38
19669271 2008
22
N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers. 9 38
18414145 2008
23
Polar body-based preimplantation genetic diagnosis for N-acetylglutamate synthase deficiency. 9 38
18753752 2008
24
Fatal initial adult-onset presentation of urea cycle defect. 9 38
18071043 2007
25
High throughput screening reveals several new classes of glutamate dehydrogenase inhibitors. 9 38
18044977 2007
26
[Urea cycle disorders in adult patients]. 9 38
18033025 2007
27
Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency. 9 38
17591776 2007
28
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. 9 38
17326097 2007
29
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. 9 38
17376816 2007
30
Portosystemic encephalopathy in a patient treated with peritoneal dialysis. 9 38
17533029 2007
31
Transient hyperammonemia due to urea cycle enzyme deficiency in Irish wolfhounds. 9 38
17427379 2007
32
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency. 9 38
17310273 2007
33
Ornithine transcarbamylase deficiency presenting as encephalopathy during adulthood following bariatric surgery. 9 38
17210820 2007
34
Aminograms during continuous hemodiafiltration in the treatment of hyperammonemia due to ornithine transcarbamylase deficiency. 9 38
17763159 2007
35
Hyperinsulinism in infancy--genetic aspects. 9 38
17551476 2006
36
Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. 9 38
16786505 2006
37
Fatal cerebral edema from late-onset ornithine transcarbamylase deficiency in a juvenile male patient receiving valproic acid. 9 38
16575347 2006
38
Disorders of carnitine transport and the carnitine cycle. 9 38
16602102 2006
39
[A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency]. 9 38
16613706 2006
40
Green tea polyphenols modulate insulin secretion by inhibiting glutamate dehydrogenase. 9 38
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. 9 38
16492972 2006
42
A case of adult-onset type II citrullinemia--deterioration of clinical course after infusion of hyperosmotic and high sugar solutions. 9 38
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. 9 38
16237708 2005
44
Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier. 9 38
16199199 2005
45
Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test. 9 38
16126063 2005
46
Urinary uracil in female patients with ornithine transcarbamylase deficiency. 9 38
15910448 2005
47
Nitric oxide signaling gone awry: nitration of glutamine synthetase and hyperammonemia in sepsis. 9 38
15841446 2005
48
Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. 9 38
15878741 2005
49
Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life. 9 38
15781198 2005
50
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. 9 38
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 13)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 OTC NM_000531.6(OTC): c.540+265G> A single nucleotide variant Pathogenic rs1555975756 X:38260946-38260946 X:38401693-38401693
2 CA5A NM_001739.2(CA5A): c.697T> C (p.Ser233Pro) single nucleotide variant Pathogenic rs587777316 16:87925482-87925482 16:87891876-87891876
3 CA5A NM_001739.1(CA5A): c.619-3421_774+502del (p.Asp207_Gln258del) deletion Pathogenic 16:87924903-87928981 16:87891297-87895395
4 CA5A NC_000016.9: g.(?_87969895)_(87970076_?)del deletion Pathogenic 16:87969895-87970076 16:87936289-87936470
5 CA5A NM_001739.2(CA5A): c.94C> T (p.Arg32Ter) single nucleotide variant Pathogenic 16:87969963-87969963 16:87936357-87936357
6 CA5A NM_001739.2(CA5A): c.555G> A (p.Lys185=) single nucleotide variant Likely pathogenic rs147623570 16:87936031-87936031 16:87902425-87902425
7 CA5A NM_001739.2(CA5A): c.721G> A (p.Glu241Lys) single nucleotide variant Likely pathogenic rs563971993 16:87925458-87925458 16:87891852-87891852
8 PCCB NM_000532.5(PCCB): c.763+10C> G single nucleotide variant Conflicting interpretations of pathogenicity rs180982841 3:136012716-136012716 3:136293874-136293874
9 PCCB NM_000532.5(PCCB): c.1421A> G (p.Lys474Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs145628302 3:136047622-136047622 3:136328780-136328780
10 CA5A NM_001739.2(CA5A): c.556C> T (p.Leu186Phe) single nucleotide variant Uncertain significance 16:87935580-87935580 16:87901974-87901974
11 OTC NM_000531.6(OTC): c.1005+11A> T single nucleotide variant Uncertain significance rs375524303 X:38271263-38271263 X:38412010-38412010
12 OTC NM_000531.6(OTC): c.374C> T (p.Thr125Met) single nucleotide variant Uncertain significance rs72554356 X:38240670-38240670 X:38381417-38381417
13 CA5A NM_001739.2(CA5A): c.135T> A (p.Asn45Lys) single nucleotide variant Benign rs77325391 16:87969922-87969922 16:87936316-87936316

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

74
# 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
13.51 SLC25A20 SLC25A15 SLC25A13 OTC NAGS CPS1
2
Show member pathways
13.23 SLC25A15 OTC NAGS CPS1 ASS1
3
Show member pathways
11.78 OTC NAGS CPS1 ASS1
4 11.46 OTC CPS1 ASS1
5 10.96 CPS1 ASS1
6
Show member pathways
10.83 CPS1 CA5A
7
Show member pathways
10.67 OTC NAGS CPS1 ASS1
8
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 9.72 OTC CPS1 ASS1
2 liver development GO:0001889 9.61 OTC CPS1 ASS1
3 response to toxic substance GO:0009636 9.58 CPS1 ASS1
4 response to glucocorticoid GO:0051384 9.57 CPS1 ASS1
5 cellular response to cAMP GO:0071320 9.56 CPS1 ASS1
6 cellular amino acid biosynthetic process GO:0008652 9.54 OTC ASS1
7 response to amino acid GO:0043200 9.52 CPS1 ASS1
8 response to steroid hormone GO:0048545 9.51 CPS1 ASS1
9 cellular response to glucagon stimulus GO:0071377 9.49 CPS1 ASS1
10 response to growth hormone GO:0060416 9.48 CPS1 ASS1
11 response to amine GO:0014075 9.46 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 9.26 OTC NAGS CPS1 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 phospholipid binding GO:0005543 8.96 OTC CPS1
2 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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