ORPHA:93612
Cystinuria type A
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under Cystinuria
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cystinuria type A | |
| fr | Cystinurie type A | |
| de | Zystinurie Typ A | |
| es | Cistinuria tipo A | |
| it | Cistinuria, tipo A | |
| nl | Cystinurie type A | |
| pt | Cistinúria tipo A | |
| pl | Cystinuria typu A | |
| cs | Cystinurie, typ A | |
| uk | Цистинурія, тип А | |
| zh | 胱氨酸尿症A型 | |
| tr | Sistinüri tip A |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 220100 | NTBT | validated | |
| ICD-10 | E72.0 | NTBT | attributed | validated |
| ICD-11 | 5C60.2 | NTBT | index | validated |
| MONDO | 0019745 | E | validated | |
| MeSH | C565652 | E | validated | |
| UMLS | C1857388 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:214Cystinuria
rare inborn errors of metabolism; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC3A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11025 | ENSG00000138079 | 104614 | 2p21 | solute carrier family 3 member 1 | 21255007[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93612
- This record as JSON: /data/d/93612.json