Bartter syndrome type 3
Synonyms: Bartter syndrome type III
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A form of Bartter syndrome characterized by a later age at onset than the other types of Bartter syndrome, typically presenting beyond the first year of life with failure to thrive, hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone and low to normal blood pressure.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bartter syndrome type 3 | Bartter syndrome type III |
| fr | Syndrome de Bartter type 3 | Syndrome de Bartter type III |
| de | Bartter-Syndrom Typ 3 | Bartter-Syndrom Typ III |
| es | Síndrome de Bartter tipo 3 | Síndrome de Bartter tipo III |
| it | Sindrome di Bartter classica | Sindrome di Bartter tipo III |
| nl | Syndroom van Bartter type 3 | Syndroom van Bartter type III |
| pt | Síndrome Bartter tipo 3 | Síndrome Bartter tipo III |
| pl | Klasyczny zespół Barttera | Zespół Barttera dorosłych · Zespół Barttera typu 3 · Zespół Barttera typu III |
| cs | Klasický Bartterův syndrom | Bartterův syndrom, adultní forma · Bartterův syndrom, typ 3 · Bartterův syndrom, typ III |
| uk | Синдром Барттера, тип 3 | Синдром Барттера, тип III |
| zh | 经典型巴特综合征 | 巴特综合征Ⅲ型 |
| tr | Klasik Bartter sendromu | Erişkin Bartter sendromu · Bartter sendromu tip 3 · Bartter sendromu tip III |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607364 | E | validated | |
| ICD-10 | E26.8 | NTBT | attributed | validated |
| ICD-11 | GB90.43 | NTBT | index | validated |
| MONDO | 0011822 | E | validated | |
| MeSH | C537653 | E | validated | |
| UMLS | C1846343 | E | validated | |
| GARD | 9659 | 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 (2):
- ORPHA:112Bartter syndrome
rare genetic diseases; rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLCNKB | Disease-causing germline mutation(s) in | Assessed | HGNC:2027 | ENSG00000184908 | 602023 | 1p36.13 | chloride voltage-gated channel Kb | 24058621[PMID]_17622951[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET_[EXPERT] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93605
- This record as JSON: /data/d/93605.json