Iminoglycinuria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare inborn error of metabolism characterized by elevated levels of imino acids (proline, hydroxyproline) and glycine in urine due to defective reabsorption in the kidney. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Iminoglycinuria | |
| fr | Iminoglycinurie | |
| de | Iminoglycinurie | |
| es | Iminoglicinuria | |
| it | Iminoglicinuria | |
| nl | Iminoglycinurie | |
| pt | Iminoglicinúria | |
| pl | Iminoglicynuria | |
| cs | Iminoglycinurie | |
| uk | Іміногліцинурія | |
| zh | 亚氨基甘氨酸尿症 | |
| tr | Iminoglisinüri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 242600 | E | validated | |
| ICD-10 | E72.0 | NTBT | attributed | validated |
| ICD-11 | 5C60.Y | NTBT | index | validated |
| MONDO | 0009448 | E | validated | |
| MeSH | C536285 | E | validated | |
| UMLS | C0268654 | E | validated | |
| GARD | 8424 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:308451Disorder of neutral amino acid transport
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC6A18 | Candidate gene tested in | Not yet assessed | HGNC:26441 | ENSG00000164363 | 610300 | 5p15.33 | solute carrier family 6 member 18 | 19033659[PMID] |
| SLC6A19 | Candidate gene tested in | Not yet assessed | HGNC:27960 | ENSG00000174358 | 608893 | 5p15.33 | solute carrier family 6 member 19 | 19033659[PMID] |
| SLC6A20 | Candidate gene tested in | Not yet assessed | HGNC:30927 | ENSG00000163817 | 605616 | 3p21.31 | solute carrier family 6 member 20 | 19033659[PMID] |
| SLC36A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:18762 | ENSG00000186335 | 608331 | 5q33.1 | solute carrier family 36 member 2 | 19033659[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 6.67 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 6.68 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
6 annotations · validated 2020-02-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003080 | Hydroxyprolinuria | |
| HP:0003108 | Hyperglycinuria | |
| HP:0003137 | Prolinuria | |
| Excluded (0%) | ||
| HP:0003260 | Hydroxyprolinemia | |
| HP:0002154 | Hyperglycinemia | |
| HP:0008358 | Hyperprolinemia | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 19033659[PMID]_18200002[PMID]_7504361[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/42062
- This record as JSON: /data/d/42062.json