eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pyruvate carboxylase deficiency | ||||
| Disease ID | 390 |
|---|---|
| Disease | pyruvate carboxylase deficiency |
| Definition | An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9) |
| Synonym | ataxia with lactic acidosis 2 ataxia with lactic acidosis ii ataxia with lactic acidosis, type ii defic dis pyruvate carboxylase deficiency disease, pyruvate carboxylase deficiency of pyruvate carboxylase deficiency of pyruvate carboxylase (disorder) deficiency of pyruvic carboxylase deficiency, pyruvate carboxylase lactic acidosis with ataxia, type ii pc - pyruvate carboxylase deficiency pc deficiency pyruvate carboxylase defic dis pyruvate carboxylase deficiency (disorder) pyruvate carboxylase deficiency disease pyruvate carboxylase deficiency disease [disease/finding] type ii ataxia with lactic acidosis |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0034341 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 390 |
|---|---|
| Disease | pyruvate carboxylase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:14) HP:0001252 | Hypotonia HP:0001250 | Seizures HP:0006970 | Periventricular leukomalacia HP:0002240 | Enlarged liver HP:0007190 | Neuronal loss in the cerebral cortex HP:0003542 | Increased serum pyruvate HP:0001263 | Developmental retardation HP:0003128 | Lactic acidosis HP:0003348 | Increased blood alanine HP:0002169 | Clonus HP:0002049 | Proximal renal tubular acidosis HP:0001943 | Hypoglycemia HP:0002151 | Increased serum lactate HP:0001249 | Mental retardation |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0003128 | Lactic acidosis | 1 HP:0001919 | Acute renal failure | 1 HP:0000083 | Renal insufficiency | 1 HP:0001941 | acidemia | 1 |
| Disease ID | 390 |
|---|---|
| Disease | pyruvate carboxylase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0001125 | lactic acidosis |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:17) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113994141 | NA | 5091 | PC | umls:C0034341 | CLINVAR | NA | 0.361357209 | NA | PC | 11 | 66871824 | G | A |
| rs113994142 | NA | 5091 | PC | umls:C0034341 | CLINVAR | NA | 0.361357209 | NA | PC | 11 | 66870409 | A | T,G |
| rs113994143 | NA | 5091 | PC | umls:C0034341 | CLINVAR | NA | 0.361357209 | NA | PC | 11 | 66863791 | G | A |
| rs113994144 | NA | 5091 | PC | umls:C0034341 | CLINVAR | NA | 0.361357209 | NA | PC | 11 | 66852559 | T | C |
| rs113994145 | NA | 5091 | PC | umls:C0034341 | CLINVAR | NA | 0.361357209 | NA | PC | 11 | 66851880 | C | T |
| rs113994146 | NA | 5091 | PC | umls:C0034341 | CLINVAR | NA | 0.361357209 | NA | PC | 11 | 66851149 | G | T |
| rs113994147 | NA | 5091 | PC | umls:C0034341 | CLINVAR | NA | 0.361357209 | NA | PC | 11 | 66850398 | G | A |
| rs113994148 | NA | 5091 | PC | umls:C0034341 | CLINVAR | NA | 0.361357209 | NA | PC | 11 | 66849026 | AG | - |
| rs119103241 | NA | 5091 | PC | umls:C0034341 | CLINVAR | NA | 0.361357209 | NA | PC | 11 | 66871335 | C | T |
| rs119103242 | NA | 5091 | PC | umls:C0034341 | CLINVAR | NA | 0.361357209 | NA | PC | 11 | 66852516 | C | T,A |
| rs28940589 | 19306334 | 5091 | PC | umls:C0034341 | UNIPROT | Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. | 0.361357209 | 2009 | PC | 11 | 66851944 | C | T |
| rs28940589 | NA | 5091 | PC | umls:C0034341 | CLINVAR | NA | 0.361357209 | NA | PC | 11 | 66851944 | C | T |
| rs28940590 | NA | 5091 | PC | umls:C0034341 | CLINVAR | NA | 0.361357209 | NA | PC | 11 | 66850918 | C | A |
| rs28940590 | 19306334 | 5091 | PC | umls:C0034341 | UNIPROT | Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. | 0.361357209 | 2009 | PC | 11 | 66850918 | C | A |
| rs28940591 | 19306334 | 5091 | PC | umls:C0034341 | UNIPROT | Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. | 0.361357209 | 2009 | PC | 11 | 66871368 | A | G,C |
| rs28940591 | NA | 5091 | PC | umls:C0034341 | CLINVAR | NA | 0.361357209 | NA | PC | 11 | 66871368 | A | G,C |
| rs370408044 | 20815936 | 5554 | PRH1 | umls:C0034341 | BeFree | The aim of the study was to explore the mechanisms responsible for severe PC deficiency in a patient with the protein C A267T mutation by in-vitro expression studies. | 0.005971721 | 2010 | PRH1;TAS2R46;PRH1-PRR4;PRH1-TAS2R14 | 12 | 11061493 | C | A,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0003128 | Lactic acidosis | MP:0003031 | acidosis | a pathological state characterized by an increase in the hydrogen ion concentration in tissues and blood caused by an decrease in the concentration of alkaline compounds, or by a increase in the concentration of acidic compounds or carbon dioxide to the b |
| HP:0002151 | Increased serum lactate | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0002049 | Proximal renal tubular acidosis | MP:0000525 | renal tubular acidosis | a clinical syndrome characterized by the inability to acidify urine |
Mapped by homologous gene(Total Items:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0003542 | Increased serum pyruvate | MP:0013508 | increased granulosa cell apoptosis | increase in the timing or the number of granulsa cells undergoing programmed cell death |
| HP:0002049 | Proximal renal tubular acidosis | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0006970 | Periventricular leukomalacia | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0001263 | Global developmental delay | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001943 | Hypoglycemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002151 | Increased serum lactate | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0003348 | Hyperalaninemia | MP:0012106 | impaired exercise endurance | impaired performance during controlled physical activity |
| HP:0003128 | Lactic acidosis | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002169 | Clonus | MP:0013401 | increased endometrial gland number | greater than normal numbers of the simple or branched tubular glands found in the mucus membrane of the uterus |
| HP:0007190 | Neuronal loss in the cerebral cortex | MP:0011100 | preweaning lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| Disease ID | 390 |
|---|---|
| Disease | pyruvate carboxylase deficiency |
| Case | (Waiting for update.) |