eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| iminoglycinuria | ||||
| Disease ID | 1547 |
|---|---|
| Disease | iminoglycinuria |
| Definition | Iminoglycinuria, sometimes called familial iminoglycinuria,[1][2][3] is an autosomal recessive[4] disorder of renal tubular transport affecting reabsorption of the amino acid glycine, and the imino acids proline and hydroxyproline.[4][5] This results in excess urinary excretion of all three acids (-uria denotes in the urine).[6] - Wikipedia Reference: https://en.wikipedia.org/wiki/iminoglycinuria |
| Synonym | iminoglycinuria (disorder) iminoglycinuria, nos |
| Orphanet | |
| OMIM | |
| UMLS | C0268654 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 1547 |
|---|---|
| Disease | iminoglycinuria |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:5) HP:0003108 | High urine glycine levels HP:0000478 | Abnormal eye HP:0003137 | Prolinuria HP:0003080 | Elevated urinary hydroxyproline HP:0001249 | Mental retardation |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1547 |
|---|---|
| Disease | iminoglycinuria |
| 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs77010315 | 19033659 | 153201 | SLC36A2 | umls:C0268654 | UNIPROT | Mutations in SLC36A2 that retained residual transport activity resulted in the IG phenotype when combined with mutations in the gene encoding the imino acid transporter SLC6A20 (IMINO). | 0.480271442 | 2008 | SLC36A2 | 5 | 151343594 | C | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000478 | Abnormality of the eye | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
Mapped by homologous gene(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003137 | Prolinuria | MP:0011417 | abnormal renal transport | any anomaly of the directed movement of substances through the kidney |
| HP:0003108 | Hyperglycinuria | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003080 | Hydroxyprolinuria | MP:0013258 | abnormal extracellular matrix morphology | any structural anomaly of the structure lying external to one or more cells, which provides structural support for cells or tissues; in mammals, the extracellular matrix is completely external to the cell |
| 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 |
| Disease ID | 1547 |
|---|---|
| Disease | iminoglycinuria |
| Case | (Waiting for update.) |