eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ornithine transcarbamylase deficiency | ||||
| Disease ID | 90 |
|---|---|
| Disease | ornithine transcarbamylase deficiency |
| Definition | An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50) |
| Synonym | defic dis ornithine carbamoyltransferase defic dis ornithine transcarbamylase deficiencies, ornithine transcarbamylase deficiencies, otc deficiency disease, ornithine carbamoyltransferase deficiency disease, ornithine transcarbamylase deficiency of citrulline phosphorylase deficiency of ornithine carbamoyltransferase deficiency of ornithine carbamoyltransferase (disorder) deficiency of ornithine transcarbamylase deficiency, ornithine transcarbamylase deficiency, otc oct - ornithine carbamoyltransferase deficiency oct deficiency octd ornithine carbamoyltransferase defic dis ornithine carbamoyltransferase deficiency ornithine carbamoyltransferase deficiency (disorder) ornithine carbamoyltransferase deficiency (octd) ornithine carbamoyltransferase deficiency disease ornithine carbamoyltransferase deficiency disease [disease/finding] ornithine transcarbamoylase deficiency ornithine transcarbamylase defic dis ornithine transcarbamylase deficiencies ornithine transcarbamylase deficiency disease ornithine transcarbamylase deficiency, hyperammonemia due to otc - ornithine transcarbamylase deficiency otc deficiencies otc deficiency |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0268542 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:9) C0019204 | hepatocellular carcinoma | 2 C0030305 | pancreatitis | 1 C0011854 | type 1 diabetes mellitus | 1 C0149521 | recurrent pancreatitis | 1 C0011849 | diabetes mellitus | 1 C0155320 | cortical blindness | 1 C0011847 | diabetes | 1 C0021400 | influenza | 1 C0011854 | type 1 diabetes | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:30) 1244 | ABCC2 | 1.695 | DISEASES 229 | ALDOB | 2.206 | DISEASES 383 | ARG1 | 2.754 | DISEASES 1373 | CPS1 | 4.416 | DISEASES 1536 | CYBB | 1.773 | DISEASES 1806 | DPYD | 1.715 | DISEASES 6990 | DYNLT3 | 3.912 | DISEASES 2027 | ENO3 | 2.706 | DISEASES 2155 | F7 | 1.058 | DISEASES 2157 | F8 | 1.033 | DISEASES 2205 | FCER1A | 2.46 | DISEASES 10249 | GLYAT | 1.882 | DISEASES 2902 | GRIN1 | 2.104 | DISEASES 2994 | GYPB | 2.521 | DISEASES 3030 | HADHA | 1.514 | DISEASES 3052 | HCCS | 1.583 | DISEASES 3155 | HMGCL | 2.992 | DISEASES 58526 | MID1IP1 | 3.226 | DISEASES 5873 | RAB27A | 2.374 | DISEASES 25898 | RCHY1 | 2.759 | DISEASES 6103 | RPGR | 3.866 | DISEASES 6906 | SERPINA7 | 1.808 | DISEASES 10165 | SLC25A13 | 4.914 | DISEASES 10166 | SLC25A15 | 3.983 | DISEASES 788 | SLC25A20 | 2.63 | DISEASES 55315 | SLC29A3 | 2.443 | DISEASES 94122 | SYTL5 | 4.08 | DISEASES 7102 | TSPAN7 | 4.198 | DISEASES 51733 | UPB1 | 4.575 | DISEASES 7504 | XK | 3.904 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) OTC | Xp11.4 |
| Disease ID | 90 |
|---|---|
| Disease | ornithine transcarbamylase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0001744 | Splenomegaly HP:0001399 | Hepatic failure HP:0001987 | Hyperammonemia HP:0003355 | Aminoaciduria HP:0001943 | Hypoglycemia HP:0002021 | Pyloric stenosis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0001987 | Hyperammonemia | 3 HP:0001402 | Hepatocellular carcinoma | 2 HP:0001399 | Liver failure | 2 HP:0006554 | Acute hepatic failure | 2 HP:0030731 | Carcinoma | 2 HP:0100027 | Recurring pancreatitis | 1 HP:0001259 | Coma | 1 HP:0003256 | Coagulopathy | 1 HP:0001733 | Pancreatic inflammation | 1 HP:0001297 | Cerebral vascular events | 1 HP:0001410 | Decreased liver function | 1 HP:0100704 | Cortical visual impairment | 1 HP:0000819 | Diabetes mellitus | 1 |
| Disease ID | 90 |
|---|---|
| Disease | ornithine transcarbamylase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| OTC | Het del whole gene | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:32) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1800324 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38381375 | T | C |
| rs66469337 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38421050 | T | C,G |
| rs66556380 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38401273 | A | C,G,T |
| rs66626662 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38401372 | G | A,C |
| rs66656800 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38381429 | G | A,C,T |
| rs66741318 | 9056557 | 5009 | OTC | umls:C0268542 | BeFree | A Leu148Phe substitution of the ornithine transcarbamylase (OTC) gene was identified in a 2-year-old girl with OTC deficiency (14% of control). | 0.658663476 | 1997 | OTC | X | 38401332 | G | C,T |
| rs66741318 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38401332 | G | C,T |
| rs67120076 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38408752 | C | G,T |
| rs67367843 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38401430 | T | A,C |
| rs67486158 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38367361 | G | A,T |
| rs67939655 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38367353 | A | C,T |
| rs67960011 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38401309 | C | G,T |
| rs68026851 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38401310 | G | A,C |
| rs68031618 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38352773 | G | A,C |
| rs72554307 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38367331 | C | T |
| rs72554308 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38367332 | G | A |
| rs72554312 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38367347 | T | C |
| rs72554326 | 10502831 | 5009 | OTC | umls:C0268542 | BeFree | Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency. | 0.658663476 | 1999 | OTC | X | 38367418 | C | T |
| rs72554331 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38369815 | G | A |
| rs72554332 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38369817 | A | G |
| rs72554338 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38369838 | G | A |
| rs72554345 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38369860 | G | C |
| rs72554356 | 8807340 | 5009 | OTC | umls:C0268542 | UNIPROT | Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia. | 0.658663476 | 1996 | OTC | X | 38381417 | C | T |
| rs72556267 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38401348 | G | T |
| rs72556279 | 10502831 | 5009 | OTC | umls:C0268542 | BeFree | Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency. | 0.658663476 | 1999 | OTC | X | 38401402 | A | T |
| rs72556295 | 10502831 | 5009 | OTC | umls:C0268542 | BeFree | Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency. | 0.658663476 | 1999 | OTC | X | 38403640 | G | T |
| rs72556301 | 10502831 | 5009 | OTC | umls:C0268542 | BeFree | Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency. | 0.658663476 | 1999 | OTC | X | 38403666 | G | A |
| rs72558412 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38403694 | T | G |
| rs72558423 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38403723 | C | G |
| rs72558431 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38408797 | T | C |
| rs72558454 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38408987 | C | T |
| rs72558465 | NA | 5009 | OTC | umls:C0268542 | CLINVAR | NA | 0.658663476 | NA | OTC | X | 38411906 | G | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001399 | Hepatic failure | MP:0006138 | congestive heart failure | cardiac output is insufficient to supply blood throughout the body, resulting in the accumulation of fluid in the lungs and other body tissues; it is related mainly to salt and water retention in the tissues rather than directly to reduced blood flow; blo |
| HP:0002021 | Pyloric stenosis | MP:0006128 | pulmonary valve stenosis | abnormal narrowing of the pulmonary valve |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001987 | Hyperammonemia | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0001943 | Hypoglycemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003355 | Aminoaciduria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002021 | Pyloric stenosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001399 | Hepatic failure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 90 |
|---|---|
| Disease | ornithine transcarbamylase deficiency |
| Case | (Waiting for update.) |