ORPHA:620217
Bartter syndrome type 1
Synonyms: Bartter syndrome type I
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bartter syndrome type 1 | Bartter syndrome type I |
| fr | Syndrome de Bartter type 1 | Syndrome de Bartter type I |
| de | Bartter-Syndrom Typ 1 | Bartter-Syndrom Typ I |
| es | Síndrome de Bartter tipo 1 | Síndrome de Bartter tipo I |
| it | Sindrome di Bartter tipo 1 | Sindrome di Bartter tipo I |
| nl | Syndroom van Bartter type 1 | Syndroom van Bartter type I |
| pt | Síndrome Bartter tipo 1 | Síndrome Bartter tipo I |
| pl | Zespół Barttera typu 1 | = en |
| cs | Bartterův syndrom typu 1 | = en |
| uk | Синдром Барттера, тип 1 | Синдром Барттера, тип I |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601678 | E | validated | |
| ICD-10 | E26.8 | NTBT | attributed | validated |
| ICD-11 | GB90.43 | NTBT | index | validated |
| MONDO | 0100344 | E | validated | |
| MeSH | C537652 | E | validated | |
| UMLS | C1866495 | 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 (2):
- ORPHA:112Bartter syndrome
rare genetic diseases; rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC12A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10910 | 15q21.1 | solute carrier family 12 member 1 | 28095294[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/620217
- This record as JSON: /data/d/620217.json