MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:1635
Name:Carbamoyl-Phosphate Synthase I Deficiency Disease
Definition:A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
Alternative IDs:OMIM:237300
ParentIDs:MESH:D028361|MESH:D056806
TreeNumbers:C10.228.140.163.100.937.249 |C16.320.565.100.940.249 |C16.320.565.189.937.249 |C18.452.132.100.937.249 |C18.452.648.100.940.249 |C18.452.648.189.937.249 |C18.452.660.097
Synonyms:Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease |Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) |Carbamoyl Phosphate Synthetase I Deficiency |Carbamoylphosphate Synthetase I Deficiency Disease |Carbamoy
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: D020165
MeSH: D020165
OMIM: 237300;
MSeqDR LSDB: 00085;  
Genes: CPS1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003355Aminoaciduriahallmark
3 HP:0001251Ataxia
4 HP:0002181Cerebral edema
5 HP:0001259Coma
6 HP:0001951Episodic ammonia intoxication
7 HP:0001508Failure to thrive
8 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
9 HP:0001263Global developmental delay
NAMDC:  Mental retardation
10 HP:0001987Hyperammonemiahallmark
11 HP:0001987Hyperammonemia
12 HP:0005961Hypoargininemia
13 HP:0001249Intellectual disability
14 HP:0000737Irritability
15 HP:0001254Lethargy
16 HP:0003572Low plasma citrulline
17 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
hallmark
18 HP:0002038Protein avoidance
19 HP:0001950Respiratory alkalosis
20 HP:0002093Respiratory insufficiencyhallmark
21 HP:0001250Seizures
NAMDC:  Seizures
hallmark
22 HP:0001250Seizures
NAMDC:  Seizures
23 HP:0001297Stroke
NAMDC:  Strokes or Stroke-like lesions*
rare
24 HP:0002013Vomiting
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001875.4(CPS1):c.130C>T (p.Gln44Ter)1373CPS1Pathogenic121912593RCV000002521; NMedGen:C0751753,OMIM:237300,ORPHA:147,SNOMED CT:625220042211438025211438025NM_001875.4:c.130C>TNP_001866.2:p.Gln44TerNC_000002.11:g.211438025C>TOMIM Allelic Variant:608307.0003C0751753 237300 Congenital hyperammonemia, type I
NM_001875.4(CPS1):c.1010A>G (p.His337Arg)1373CPS1Pathogenic28940283RCV000002522; NMedGen:C0751753,OMIM:237300,ORPHA:147,SNOMED CT:625220042211456617211456617NM_001875.4:c.1010A>GNP_001866.2:p.His337ArgNC_000002.11:g.211456617A>GOMIM Allelic Variant:608307.0004C0751753 237300 Congenital hyperammonemia, type I
NM_001875.4(CPS1):c.1631C>T (p.Thr544Met)1373CPS1Pathogenic121912592RCV000002520; NMedGen:C0751753,OMIM:237300,ORPHA:147,SNOMED CT:625220042211465360211465360NM_001875.4:c.1631C>TNP_001866.2:p.Thr544MetNC_000002.11:g.211465360C>TOMIM Allelic Variant:608307.0002C0751753 237300 Congenital hyperammonemia, type I
NM_001875.4(CPS1):c.2359C>T (p.Arg787Ter)1373CPS1Pathogenic121912596RCV000002528; NMedGen:C0751753,OMIM:237300,ORPHA:147,SNOMED CT:625220042211473251211473251NM_001875.4:c.2359C>TNP_001866.2:p.Arg787TerNC_000002.11:g.211473251C>TOMIM Allelic Variant:608307.0009C0751753 237300 Congenital hyperammonemia, type I
NM_001875.4(CPS1):c.2945G>A (p.Gly982Asp)1373CPS1Pathogenic121912595RCV000002526; NMedGen:C0751753,OMIM:237300,ORPHA:147,SNOMED CT:625220042211504769211504769NM_001875.4:c.2945G>ANP_001866.2:p.Gly982AspNC_000002.11:g.211504769G>AOMIM Allelic Variant:608307.0007C0751753 237300 Congenital hyperammonemia, type I
NM_001875.4(CPS1):c.3037_3039delGTG (p.Val1013del)1373CPS1Pathogenic727502824RCV000149915; NMedGen:C0751753,OMIM:237300,ORPHA:147,SNOMED CT:625220042211507285211507287NM_001875.4:c.3037_3039delGTGNP_001866.2:p.Val1013delNC_000002.11:g.211507285_211507287delGTGOMIM Allelic Variant:608307.0013C0751753 237300 Congenital hyperammonemia, type I
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000021826 MSeqDR Search EnsemblCPS1166carbamoyl-phosphate synthase 1, mitochondrial [Source:HGNC Symbol;Acc:2323]00085

*Click on gene and variants to check details. Or view all variants in new page