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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Mitochondrial Diseases (D028361)
Parent Node: Urea Cycle Disorders, Inborn (D056806)
..Starting node ..Carbamoyl-Phosphate Synthase I Deficiency Disease (D020165)
Child Nodes:
Sister Nodes:
..3-methylcrotonyl CoA carboxylase 1 deficiency (C535308)
..3-methylcrotonyl CoA carboxylase 2 deficiency (C535309)
..Argininosuccinic Aciduria (D056807)
..Carbamoyl phosphate synthase 1 deficiency (C535574)
..Carbamoyl-Phosphate Synthase I Deficiency Disease (D020165)
..Citrulline transport defect (C536207)
..Citrullinemia (D020159) 3
..HHH syndrome (C538380)
..Hyperargininemia (D020162)
..N-acetyl glutamate synthetase deficiency (C536109)
..Ornithine Carbamoyltransferase Deficiency Disease (D020163) 1
..Osteopetrosis with renal tubular acidosis (C536058)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

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;

Genes: CPS1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001251	Ataxia
3	HP:0002181	Cerebral edema
4	HP:0001259	Coma
5	HP:0001951	Episodic ammonia intoxication
6	HP:0001508	Failure to thrive
7	HP:0001263	Global developmental delay
8	HP:0001987	Hyperammonemia
9	HP:0005961	Hypoargininemia
10	HP:0001249	Intellectual disability
11	HP:0000737	Irritability
12	HP:0001254	Lethargy
13	HP:0003572	Low plasma citrulline
14	HP:0002038	Protein avoidance
15	HP:0001950	Respiratory alkalosis
16	HP:0001250	Seizure
17	HP:0001297	Stroke	HP:0040283
18	HP:0002013	Vomiting

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001875.4(CPS1):c.130C>T (p.Gln44Ter)	1373	CPS1	Pathogenic	121912593	RCV000002521;	N	MedGen:C0751753,OMIM:237300,ORPHA:147,SNOMED CT:62522004	2	211438025	211438025	NM_001875.4:c.130C>T	NP_001866.2:p.Gln44Ter	NC_000002.11:g.211438025C>T	OMIM Allelic Variant:608307.0003	C0751753 237300 Congenital hyperammonemia, type I
NM_001875.4(CPS1):c.1010A>G (p.His337Arg)	1373	CPS1	Pathogenic	28940283	RCV000002522;	N	MedGen:C0751753,OMIM:237300,ORPHA:147,SNOMED CT:62522004	2	211456617	211456617	NM_001875.4:c.1010A>G	NP_001866.2:p.His337Arg	NC_000002.11:g.211456617A>G	OMIM Allelic Variant:608307.0004	C0751753 237300 Congenital hyperammonemia, type I
NM_001875.4(CPS1):c.1631C>T (p.Thr544Met)	1373	CPS1	Pathogenic	121912592	RCV000002520;	N	MedGen:C0751753,OMIM:237300,ORPHA:147,SNOMED CT:62522004	2	211465360	211465360	NM_001875.4:c.1631C>T	NP_001866.2:p.Thr544Met	NC_000002.11:g.211465360C>T	OMIM Allelic Variant:608307.0002	C0751753 237300 Congenital hyperammonemia, type I
NM_001875.4(CPS1):c.2359C>T (p.Arg787Ter)	1373	CPS1	Pathogenic	121912596	RCV000002528;	N	MedGen:C0751753,OMIM:237300,ORPHA:147,SNOMED CT:62522004	2	211473251	211473251	NM_001875.4:c.2359C>T	NP_001866.2:p.Arg787Ter	NC_000002.11:g.211473251C>T	OMIM Allelic Variant:608307.0009	C0751753 237300 Congenital hyperammonemia, type I
NM_001875.4(CPS1):c.2945G>A (p.Gly982Asp)	1373	CPS1	Pathogenic	121912595	RCV000002526;	N	MedGen:C0751753,OMIM:237300,ORPHA:147,SNOMED CT:62522004	2	211504769	211504769	NM_001875.4:c.2945G>A	NP_001866.2:p.Gly982Asp	NC_000002.11:g.211504769G>A	OMIM Allelic Variant:608307.0007	C0751753 237300 Congenital hyperammonemia, type I
NM_001875.4(CPS1):c.3037_3039delGTG (p.Val1013del)	1373	CPS1	Pathogenic	727502824	RCV000149915;	N	MedGen:C0751753,OMIM:237300,ORPHA:147,SNOMED CT:62522004	2	211507285	211507287	NM_001875.4:c.3037_3039delGTG	NP_001866.2:p.Val1013del	NC_000002.11:g.211507285_211507287delGTG	OMIM Allelic Variant:608307.0013	C0751753 237300 Congenital hyperammonemia, type I