eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hyperlysinemia | ||||
| Disease ID | 997 |
|---|---|
| Disease | hyperlysinemia |
| Definition | A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56) |
| Synonym | deficiencies, l-lysine:nad-oxido-reductase deficiencies, lysine:alpha-ketoglutarate reductase deficiency, l-lysine:nad-oxido-reductase deficiency, lysine:alpha-ketoglutarate reductase elevated blood lysine familial hyperlysinemia familial hyperlysinemias hyperlysinaemia hyperlysinaemia, nos hyperlysinemia (disorder) hyperlysinemia, familial hyperlysinemia, nos hyperlysinemias hyperlysinemias [disease/finding] hyperlysinemias, familial l lysine:nad oxido reductase deficiency l-lysine:nad-oxido-reductase deficiencies l-lysine:nad-oxido-reductase deficiency lysine:alpha ketoglutarate reductase deficiency lysine:alpha-ketoglutarate reductase deficiencies lysine:alpha-ketoglutarate reductase deficiency reductase deficiencies, lysine:alpha-ketoglutarate reductase deficiency, lysine:alpha-ketoglutarate |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0268553 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:4) |
| Locus | Symbol | Locus(Total Locus:1) AASS | 7q31.32 |
| Disease ID | 997 |
|---|---|
| Disease | hyperlysinemia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 997 |
|---|---|
| Disease | hyperlysinemia |
| 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:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs387906333 | NA | 10157 | AASS | umls:C0268553 | CLINVAR | NA | 0.360542884 | NA | AASS | 7 | 122098496 | CTTGTTTAC | - |
| rs587777121 | NA | 10157 | AASS | umls:C0268553 | CLINVAR | NA | 0.360542884 | NA | AASS | 7 | 122077833 | CTTAC | AA |
| rs587777122 | NA | 10157 | AASS | umls:C0268553 | CLINVAR | NA | 0.360542884 | NA | AASS | 7 | 122116653 | T | C |
| rs587777123 | NA | 10157 | AASS | umls:C0268553 | CLINVAR | NA | 0.360542884 | NA | AASS | 7 | 122115140 | TG | - |
| rs587777124 | NA | 10157 | AASS | umls:C0268553 | CLINVAR | NA | 0.360542884 | NA | AASS | 7 | 122091794 | G | C |
| rs587777125 | NA | 10157 | AASS | umls:C0268553 | CLINVAR | NA | 0.360542884 | NA | AASS | 7 | 122133533 | C | T |
| rs587777126 | NA | 10157 | AASS | umls:C0268553 | CLINVAR | NA | 0.360542884 | NA | AASS | 7 | 122113140 | A | C |
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 | 997 |
|---|---|
| Disease | hyperlysinemia |
| Case | (Waiting for update.) |