eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| 3-hydroxy-3-methylglutaric aciduria | ||||
| Disease ID | 1713 |
|---|---|
| Disease | 3-hydroxy-3-methylglutaric aciduria |
| Definition | A rare genetic inherited disorder characterized by inability of the body to process the amino acid leucine. Signs and symptoms include vomiting, dehydration, lethargy, convulsions, and coma. |
| Synonym | 3-hydroxy 3-methyl glutaric aciduria 3-hydroxy-3-methylglutaryl-coa lyase deficiency 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency 3-hydroxyl 3-methyl glutaric aciduria 3-oh 3-methyl glutaric aciduria deficiency of hydroxymethylglutaryl-coa lyase deficiency of hydroxymethylglutaryl-coa lyase (disorder) hl deficiency hmg coa lyase deficiency hmg-coa lyase deficiency hmgcl deficiency hmgcld hydroxymethylglutaric aciduria hydroxymethylglutaryl coa lyase deficiency hydroxymethylglutaryl-coa lyase deficiency hydroxymethylglutaryl-coa lyase deficiency (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C0268601 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) HMGCL | 1p36.11 |
| Disease ID | 1713 |
|---|---|
| Disease | 3-hydroxy-3-methylglutaric aciduria |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1713 |
|---|---|
| Disease | 3-hydroxy-3-methylglutaric 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:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121964996 | NA | 3155 | HMGCL | umls:C0268601 | CLINVAR | NA | 0.360814326 | NA | HMGCL | 1 | 23817520 | C | G |
| rs121964997 | NA | 3155 | HMGCL | umls:C0268601 | CLINVAR | NA | 0.360814326 | NA | HMGCL | 1 | 23820532 | C | T |
| rs121964998 | NA | 3155 | HMGCL | umls:C0268601 | CLINVAR | NA | 0.360814326 | NA | HMGCL | 1 | 23804441 | C | T |
| rs199587895 | 19036343 | 3155 | HMGCL | umls:C0268601 | UNIPROT | 3-Hydroxy-3-methylglutaryl CoA lyase deficiency (HL deficiency) is a rare autosomal recessive mitochondrial disease characterized by a deficiency in the enzyme 3-Hydroxy-3-methylglutaryl CoA lyase (HMGCL). | 0.360814326 | 2009 | HMGCL | 1 | 23814193 | C | G,T |
| rs28934894 | 11129331 | 3155 | HMGCL | umls:C0268601 | UNIPROT | Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. | 0.360814326 | 2000 | NA | NA | NA | NA | NA |
| rs752137615 | NA | 3155 | HMGCL | umls:C0268601 | CLINVAR | NA | 0.360814326 | NA | HMGCL | 1 | 23817521 | AG | - |
| rs763494292 | NA | 3155 | HMGCL | umls:C0268601 | CLINVAR | NA | 0.360814326 | NA | HMGCL | 1 | 23820545 | C | A |
| rs786205431 | NA | 3155 | HMGCL | umls:C0268601 | CLINVAR | NA | 0.360814326 | NA | GALE;HMGCL | 1 | 23802526 | AA | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1713 |
|---|---|
| Disease | 3-hydroxy-3-methylglutaric aciduria |
| Case | (Waiting for update.) |