eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| malonic aciduria | ||||
| Disease ID | 1615 |
|---|---|
| Disease | malonic aciduria |
| Synonym | deficiency of malonyl-coa decarboxylase deficiency of malonyl-coa decarboxylase (disorder) deficiency of malonyl-coenzyme a decarboxylase deficiency of malonyl-coenzyme a decarboxylase (disorder) malonic aciduria (disorder) malonicaciduria malonyl-coa decarboxylase deficiency malonyl-coa decarboxylase deficiency (disorder) malonyl-coa decarboxylase deficiency [ambiguous] malonyl-coenzyme a decarboxylase deficiency mcd |
| Orphanet | |
| OMIM | |
| UMLS | C0342793 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0019880 | homocystinuria | 5 C0878544 | cardiomyopathy | 1 C0020255 | hydrocephalus | 1 C0026393 | molluscum contagiosum | 1 C0019061 | hemolytic uremic syndrome | 1 C0001125 | lactic acidosis | 1 C0014547 | focal epilepsy | 1 C0037769 | west syndrome | 1 C0014544 | epilepsy | 1 C0206624 | hepatoblastoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) MLYCD | 16q23.3 |
| Disease ID | 1615 |
|---|---|
| Disease | malonic aciduria |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:14) HP:0001252 | Hypotonia HP:0001250 | Seizures HP:0001942 | Metabolic acidosis HP:0004322 | Stature below 3rd percentile HP:0001263 | Developmental retardation HP:0003128 | Lactic acidosis HP:0002014 | Diarrhea HP:0001302 | Cerebral pachygyria HP:0001946 | High levels of ketone bodies HP:0001943 | Hypoglycemia HP:0002027 | Abdominal pain HP:0001639 | Hypertrophic cardiomyopathy HP:0012450 | Chronic constipation HP:0002013 | Emesis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0002156 | High urine homocystine levels | 6 HP:0000512 | ERG abnormal | 1 HP:0000238 | Nonsyndromal hydrocephalus | 1 HP:0005575 | Hemolytic-uremic syndrome | 1 HP:0002884 | Hepatoblastoma | 1 HP:0003128 | Lactic acidosis | 1 HP:0001638 | Cardiomyopathy | 1 HP:0001941 | acidemia | 1 |
| Disease ID | 1615 |
|---|---|
| Disease | malonic aciduria |
| Manually Symptom | (Waiting for update.) |
| 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:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894528 | NA | 23417 | MLYCD | umls:C0342793 | CLINVAR | NA | 0.361628651 | NA | MLYCD | 16 | 83907018 | C | G |
| rs121908081 | NA | 23417 | MLYCD | umls:C0342793 | CLINVAR | NA | 0.361628651 | NA | MLYCD | 16 | 83899152 | G | A |
| rs28937908 | NA | 23417 | MLYCD | umls:C0342793 | CLINVAR | NA | 0.361628651 | NA | MLYCD | 16 | 83899263 | T | C |
| rs376162109 | 21242781 | 4166 | CHST6 | umls:C0342793 | BeFree | A novel p.Pro186Arg mutation in CHST6 is associated with MCD type II in an African American. | 0.005971721 | 2011 | CHST6 | 16 | 75479272 | G | C,T |
| rs57218384 | 9399908 | 3859 | KRT12 | umls:C0342793 | BeFree | In this study, four new K12 mutations (Arg135Gly, Arg135Ile, Tyr429Asp, and Leu140Arg) were identified in three unrelated MCD pedigrees and in one individual with MCD. | 0.000542884 | 1997 | KRT12;LOC105371777 | 17 | 40866783 | C | G,A |
| rs58162394 | 9399908 | 3859 | KRT12 | umls:C0342793 | BeFree | In this study, four new K12 mutations (Arg135Gly, Arg135Ile, Tyr429Asp, and Leu140Arg) were identified in three unrelated MCD pedigrees and in one individual with MCD. | 0.000542884 | 1997 | KRT12;LOC105371777 | 17 | 40863154 | A | C |
| rs58410481 | 9399908 | 3859 | KRT12 | umls:C0342793 | BeFree | In this study, four new K12 mutations (Arg135Gly, Arg135Ile, Tyr429Asp, and Leu140Arg) were identified in three unrelated MCD pedigrees and in one individual with MCD. | 0.000542884 | 1997 | KRT12;LOC105371777 | 17 | 40866784 | T | C |
| rs58918655 | 9399908 | 3859 | KRT12 | umls:C0342793 | BeFree | In this study, four new K12 mutations (Arg135Gly, Arg135Ile, Tyr429Asp, and Leu140Arg) were identified in three unrelated MCD pedigrees and in one individual with MCD. | 0.000542884 | 1997 | KRT12;LOC105371777 | 17 | 40866768 | A | C |
| rs59202432 | 16227835 | 3859 | KRT12 | umls:C0342793 | BeFree | A novel missense mutation (R503P) in KRT3 and another novel missense mutation (Y429C) in KRT12 lead to MCD in 2 unrelated Taiwanese families. | 0.000542884 | 2005 | KRT12;LOC105371777 | 17 | 40863153 | T | C |
| rs60410063 | 16227835 | 3859 | KRT12 | umls:C0342793 | BeFree | A novel missense mutation (R503P) in KRT3 and another novel missense mutation (Y429C) in KRT12 lead to MCD in 2 unrelated Taiwanese families. | 0.000542884 | 2005 | KRT3 | 12 | 52791233 | C | T,G,A |
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:0001942 | Metabolic acidosis | MP:0012551 | metabolic acidosis | decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease |
| HP:0001639 | Hypertrophic cardiomyopathy | MP:0005330 | cardiomyopathy | diseases of the heart (myocardium); may result from many causes |
| 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:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
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: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:0012450 | Chronic constipation | MP:0012676 | dilated brain ventricles | the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid |
| HP:0001302 | Pachygyria | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002013 | Vomiting | 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:0001946 | Ketosis | MP:0011110 | preweaning lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0001942 | Metabolic acidosis | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| 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:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0004322 | Short stature | 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:0001639 | Hypertrophic cardiomyopathy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1615 |
|---|---|
| Disease | malonic aciduria |
| Case | (Waiting for update.) |