eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| essential fructosuria | ||||
| Disease ID | 1598 |
|---|---|
| Disease | essential fructosuria |
| Definition | Essential fructosuria, caused by a deficiency of the enzyme hepatic fructokinase, is a clinically benign condition characterized by the incomplete metabolism of fructose in the liver, leading to its excretion in urine.[1] Fructokinase (sometimes called ketohexokinase) is the first enzyme involved in the degradation of fructose to fructose-1-phosphate in the liver.[2] This defective degradation does not cause any clinical symptoms, fructose is either excreted unchanged in the urine or metabolized to fructose-6-phosphate by alternate pathways in the body, most commonly by hexokinase in adipose tissue and muscle.[1] - Wikipedia Reference: https://en.wikipedia.org/wiki/essential fructosuria |
| Synonym | benign fructosaemia benign fructosemia deficiency of fructokinase deficiency of fructokinase (disorder) deficiency of ketohexokinase deficiency of ketohexokinase (disorder) disorder fructosuria ef - essential fructosaemia ef - essential fructosemia essential benign fructosuria essential benign fructosuria (disorder) essential fructosaemia essential fructosemia fructokinase deficiency fructosuria fructosuria (disorder) fructosuria, essential hepatic fructokinase deficiency hepatic fructokinase deficiency (disorder) ketohexokinase deficiency |
| Orphanet | |
| OMIM | |
| ICD10 | |
| UMLS | C0268160 |
| SNOMED-CT | |
| 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) KHK | 2p23.3 |
| Disease ID | 1598 |
|---|---|
| Disease | essential fructosuria |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0011033 | Impairment of fructose metabolism |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1598 |
|---|---|
| Disease | essential fructosuria |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893643 | NA | 3795 | KHK | umls:C0268160 | CLINVAR | NA | 0.480542884 | NA | KHK | 2 | 27092357 | G | A |
| rs104893644 | NA | 3795 | KHK | umls:C0268160 | CLINVAR | NA | 0.480542884 | NA | KHK | 2 | 27092366 | 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:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1598 |
|---|---|
| Disease | essential fructosuria |
| Case | (Waiting for update.) |