ORPHA:93613
Cystinuria type B
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Semi-dominant
- Status
- active
This disease is described under Cystinuria
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cystinuria type B | |
| fr | Cystinurie type B | |
| de | Zystinurie Typ B | |
| es | Cistinuria tipo B | |
| it | Cistinuria, tipo B | |
| nl | Cystinurie type B | |
| pt | Cistinúria tipo B | |
| pl | Cystinuria typu B | |
| cs | Cystinurie, typ B | |
| uk | Цистинурія, тип В | |
| zh | 胱氨酸尿症B型 | |
| tr | Sistinüri tip B |
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 | 0019746 | E | validated | |
| UMLS | C1857389 | 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 |
|---|---|---|---|---|---|---|---|---|
| SLC7A9 | Disease-causing germline mutation(s) in | Assessed | HGNC:11067 | ENSG00000021488 | 604144 | 19q13.11 | solute carrier family 7 member 9 | 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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93613
- This record as JSON: /data/d/93613.json