| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (17.5%) |
20004862 (3758690) |
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. Oldham MS, VanMeter JW, Shattuck KF, Cederbaum SD, Gropman AL. Pediatr Neurol. 2010;42(1):49-52. |
| Dementia Progressive spasticity | ||
| OTC | ||
| Anisotropy Brain Diffusion Tensor Imaging Females Homo sapiens Hyperargininemia Male Pyramidal Tracts Young Adult | ||
| 2 (4.0%) |
29314318 |
Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy. Chen X, Yuan L, Sun M, Liu Q, Wu Y. J Clin Lab Anal. 2018;32(5):e22375. |
| Seizure | ||
| CPS1 | ||
| c|SUB|G|173|T c|SUB|G|796|A;RS#:756021170 p|SUB|G|266|R p|SUB|G|58|V | ||
| Carbamoyl-Phosphate Synthase (Ammonia) Carbamoyl-Phosphate Synthase I Deficiency Disease DNA Mutational Analysis Females Genotype Homo sapiens Hyperammonemia Lysosomal Storage Diseases, Nervous System Male Models, Molecular Mutation Tandem Mass Spectrometry | ||
| 2 (4.0%) |
28658158 (5500080) |
Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report. Yang X, Shi J, Lei H, Xia B, Mu D. Medicine (Baltimore). 2017;96(26):e7365. |
| Seizure | ||
| CPS1 | ||
| c|SUB|C|2407|G;RS#:201716417 c|SUB|G|323|A p|SUB|R|803|G;RS#:201716417 | ||
| Brain Carbamoyl-Phosphate Synthase (Ammonia) Carbamoyl-Phosphate Synthase I Deficiency Disease Early Diagnosis Females Homo sapiens Infant, Newborn Refusal of Treatment | ||
| 2 (4.0%) |
28526534 |
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. Rokicki D, Pajdowska M, Trubicka J, Thong MK, Ciara E, Piekutowska-Abramczuk D, Pronicki M, Sikora R, Haidar R, Oltarzewski M, Jablonska E, Muthukumarasamy P, Sthaneswar P, Gan CS, Krajewska-Walasek M, Carrozzo R, Verrigni D, Semeraro M, Rizzo C, Taurisano R, Alhaddad B, Kovacs-Nagy R, Haack TB, Dionisi-Vici C, Pronicka E, Wortmann SB. Clin Chim Acta. 2017;471:95-100. |
| Hyperammonemia | ||
| CPS1 SERAC1 TMEM70 | ||
| rs1275489342 rs1553518389 | ||
| Carbamoyl-Phosphate Synthase I Deficiency Disease Females Glutarates Homo sapiens Infant, Newborn Male Mutation | ||
| 2 (4.0%) |
28444906 |
Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing. Zhang G, Chen Y, Ju H, Bei F, Li J, Wang J, Sun J, Bu J. J Clin Lab Anal. 2018;32(2):. |
| Encephalopathy | ||
| rs1486364626 rs1553517387 | ||
| Carbamoyl-Phosphate Synthase (Ammonia) Carbamoyl-Phosphate Synthase I Deficiency Disease Females Homo sapiens Infant, Newborn Male Models, Molecular Molecular Diagnostic Techniques Mutation Whole Exome Sequencing | ||
| 2 (4.0%) |
27834067 (5107619) |
Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing. Choi R, Park HD, Yang M, Ki CS, Lee SY, Kim JW, Song J, Chang YS, Park WS. Ann Lab Med. 2017;37(1):58-62. |
| Encephalopathy | ||
| CPS1 | ||
| c|SUB|C|580|T p|FS|G|516|A|5;RS#:764384490 p|SUB|Q|194|* | ||
| Base Sequence Carbamoyl-Phosphate Synthase (Ammonia) Carbamoyl-Phosphate Synthase I Deficiency Disease Codon, Nonsense Exons Females High-Throughput Nucleotide Sequencing Homo sapiens Infant, Newborn Sequence Analysis, DNA South Korea Urea Cycle Disorders, Inborn | ||
| 2 (4.0%) |
25639153 |
Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation. Laemmle A, Hahn D, Hu L, Rufenacht V, Gautschi M, Leibundgut K, Nuoffer JM, Haberle J. Mol Genet Metab. 2015;114(3):438-44. |
| Hyperammonemia | ||
| CPS1 | ||
| Antineoplastic Combined Chemotherapy Protocols Brain Edema Carbamoyl-Phosphate Synthase (Ammonia) Carbamyl Phosphate Child, Preschool Combined Modality Therapy Fatal Outcome Hep G2 Cells Homo sapiens Hyperammonemia Liver Male Middle Aged Neuroblastoma Oxidative Phosphorylation | ||
| 2 (4.0%) |
21837743 |
Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation. Bates TR, Lewis BD, Burnett JR, So K, Mitchell A, Delriviere L, Jeffrey GP. Liver Transpl. 2011;17(12):1481-4. |
| Stroke | ||
| Age of Onset Brain Diseases, Metabolic Carbamoyl-Phosphate Synthase (Ammonia) Carbamoyl-Phosphate Synthase I Deficiency Disease Homo sapiens Hyperammonemia Immunosuppressive Agents Male Middle Aged Urea Cycle Disorders, Inborn | ||
| 2 (4.0%) |
20117757 |
Extrapontine myelinolysis resulting in transient cortical blindness. Langer JE, Wilson WG, Raghavan P, Rust RS, Goodkin HP. Pediatr Neurol. 2010;42(2):154-6. |
| Blindness | ||
| Blindness, Cortical Child, Preschool Homo sapiens Male Myelinolysis, Central Pontine | ||
| 2 (4.0%) |
19167850 |
A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age. Ono H, Suto T, Kinoshita Y, Sakano T, Furue T, Ohta T. Brain Dev. 2009;31(10):779-81. |
| Hyperammonemia | ||
| CPS1 | ||
| c|SUB|C|2407|G;RS#:201716417 c|SUB|C|3784|T p|SUB|R|1262|X p|SUB|R|803|G;RS#:201716417 | ||
| Carbamoyl-Phosphate Synthase I Deficiency Disease DNA Mutational Analysis Genes, Recessive Homo sapiens Infant Male Mutation |
Total: 7
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001951 | Episodic ammonia intoxication | Very frequent (99-80%) |
| HP:0001987 | Hyperammonemia | Very frequent (99-80%) |
| HP:0002093 | Respiratory insufficiency | Very frequent (99-80%) |
| HP:0003355 | Aminoaciduria | Very frequent (99-80%) |
| HP:0005961 | Hypoargininemia | Very frequent (99-80%) |
Total: 4
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001987 | Hyperammonemia | 7 |
| HP:0000618 | Blindness | 1 |
| HP:0000725 | Psychotic episodes | 1 |
| HP:0001298 | Encephalopathy | 1 |