ORPHA:570371
Bartter syndrome type 5
Synonyms: Bartter syndrome type V · Transient antenatal Bartter syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal
- Status
- active
A form of antenatal Bartter syndrome characterized by early maternal polyhydramnios, excessive renal salt loss with secondary metabolic alkalosis in the neonatal period that completely disappears within the first months of life.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bartter syndrome type 5 | Bartter syndrome type V · Transient antenatal Bartter syndrome |
| fr | Syndrome de Bartter type 5 | Syndrome de Bartter anténatal transitoire · Syndrome de Bartter type V |
| de | Bartter-Syndrom Typ 5 | Bartter -Syndrom, antenatales transientes · Bartter-Syndrom Typ V |
| es | Síndrome de Bartter tipo 5 | Síndrome de Bartter prenatal transitorio · Síndrome de Bartter tipo V |
| it | Sindrome di Bartter prenatale transitoria | Sindrome di Bartter tipo V · Sindrome prenatale transitoria di Bartter |
| nl | Syndroom van Bartter type 5 | Syndroom van Bartter type V · Transiënt prenataal syndroom van Bartter |
| pt | Síndrome Bartter tipo 5 | Síndrome Bartter pré-natal transitório · Síndrome Bartter tipo V |
| pl | Przemijający przedporodowy zespół Barttera | Zespół Barttera typ 5 |
| cs | Bartterův syndrom typu 5 | = en |
| uk | Синдром Барттера, тип 5 | Синдром Барттера, тип V · Транзиторний антенатальний синдром Барттера |
| zh | 短暂性产前巴特综合征 | 巴特综合征5型 |
| tr | Geçici antenatal Bartter sendromu | Bartter sendromu tip 5 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300971 | E | validated | |
| ICD-10 | E26.8 | NTBT | attributed | validated |
| ICD-11 | GB90.43 | NTBT | attributed | validated |
| MONDO | 0010503 | E | validated | |
| UMLS | C5680366 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:112Bartter syndrome
rare genetic diseases; rare renal diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAGED2 | Disease-causing germline mutation(s) in | Assessed | HGNC:16353 | ENSG00000102316 | 300470 | Xp11.21 | MAGE family member D2 | 27120771[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27120771[PMID] |
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 27120771[PMID]_9630034[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/570371
- This record as JSON: /data/d/570371.json