ORPHA:112
Bartter syndrome
Synonyms: Renal tubular normotensive hypokalemic alkalosis with hypercalciuria · Salt-losing tubular disorder, Henle's loop type · Salt-wasting tubulopathy, Henle's loop type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
- Status
- active
Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bartter syndrome | Renal tubular normotensive hypokalemic alkalosis with hypercalciuria · Salt-losing tubular disorder, Henle's loop type · Salt-wasting tubulopathy, Henle's loop type |
| fr | Syndrome de Bartter | Alcalose tubulaire rénale normotensive hypokaliémique avec hypercalciurie · Tubulopathie avec fuite sodée type anse de Henle · Tubulopathie avec perte de sel type anse de Henle |
| de | Bartter-Syndrom | Renaler Salzverlust - normotensiver Hyperreninämie - Hyperaldosteronismus - hypokaliämische Alkalose · Salzverlust-Tubulopathie, Typ Henle-Schleife |
| es | Síndrome de Bartter | Alcalosis tubular renal normotensa hipocaliémica con hipercalciuria · Trastorno tubular de pérdida de sal tipo asa de Henle · Tubulopatía perdedora de sal tipo asa de Henle |
| it | Sindrome di Bartter | Alcalosi ipokaliemica tubulare renale normotensiva con ipercalciuria · Malattia tubulare con perdita di sali, tipo ansa di Henle · Tubulopatia con perdita di sali, tipo ansa di Henle |
| nl | Syndroom van Bartter | Renale tubulaire normotensieve hypokaliëmische alkalose met hypercalciurie · Zoutafvoerende tubulopathie, lus van Henle-type · Zoutverliezende tubulaire stoornis, lus van Henle-type |
| pt | Síndrome Bartter | Alcalose hipocaliémica normotensa tubular renal com hipercalciúria |
| pl | Zespół Barttera | Kanalikowa zasadowica hipokaliemiczna normotensyjna z hiperkalciurią · Tubulopatia z utratą soli, typu pętli Henlego |
| cs | Bartterův syndrom | Renální tubulární normotenzní hypokalemická alkalóza s hyperkalciurií · Sůl ztrácející tubulární nemoc, typ Henleova klička · Sůl ztrácející tubulopatie, typ Henleova klička |
| uk | Синдром Барттера | Нирковий канальцевий нормотензивний гіпокаліємічний алкалоз з гіперкальціурією · Канальцева хвороба з втратою солі, тип петлі Генле · Тубулопатія з втратою солей, тип петлі Генле |
| zh | 巴特综合征 | 肾小管常压低钾性碱中毒伴高钙尿 |
| tr | Bartter sendromu | Tuz-tüketen tübülopati, Henle kulpu tipi · Tuz-kaybeden tübüler bozukluk, Henle kulpu tipi · Hiperkalsiüri ile seyreden renal tübüler normotansif hipokalemik alkaloz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 241200 | BTNT | validated | |
| OMIM | 300971 | BTNT | validated | |
| OMIM | 601198 | NTBT | validated | |
| OMIM | 601678 | BTNT | validated | |
| OMIM | 602522 | BTNT | validated | |
| OMIM | 607364 | BTNT | validated | |
| OMIM | 613090 | BTNT | validated | |
| ICD-10 | E26.8 | NTBT | inclusion | validated |
| ICD-11 | GB90.43 | E | specific | validated |
| MONDO | 0015231 | E | validated | |
| MeSH | D001477 | E | validated | |
| UMLS | C0004775 | E | validated | |
| GARD | 5893 | E | validated | |
| MedDRA | 10050839 | 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 (2):
- ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:93603Rare renal tubular disease
rare renal diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:93604OBSOLETE: Antenatal Bartter syndrome referred to · inactive
- ORPHA:98119OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly referred to · inactive
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Genes
0 direct · 7 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CLCNKA | ORPHA:89938Bartter syndrome type 4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2026 | ENSG00000186510 | 602024 | 1p36.13 | chloride voltage-gated channel Ka | 18310267[PMID]_18776122[PMID]_12920401[PMID] |
| CLCNKB | ORPHA:89938Bartter syndrome type 4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2027 | ENSG00000184908 | 602023 | 1p36.13 | chloride voltage-gated channel Kb | 18310267[PMID]_18776122[PMID]_12920401[PMID] |
| BSND | ORPHA:89938Bartter syndrome type 4 | Disease-causing germline mutation(s) in | Assessed | HGNC:16512 | ENSG00000162399 | 606412 | 1p32.3 | barttin CLCNK type accessory subunit beta | 23110775[PMID] |
| CLCNKB | ORPHA:93605Bartter syndrome type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:2027 | ENSG00000184908 | 602023 | 1p36.13 | chloride voltage-gated channel Kb | 24058621[PMID]_17622951[PMID] |
| KCNJ1 | ORPHA:620220Bartter syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6255 | ENSG00000151704 | 600359 | 11q24.3 | potassium inwardly rectifying channel subfamily J member 1 | 26963954[PMID] |
| MAGED2 | ORPHA:570371Bartter syndrome type 5 | Disease-causing germline mutation(s) in | Assessed | HGNC:16353 | ENSG00000102316 | 300470 | Xp11.21 | MAGE family member D2 | 27120771[PMID] |
| SLC12A1 | ORPHA:620217Bartter syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10910 | 15q21.1 | solute carrier family 12 member 1 | 28095294[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Annual incidence | 1-9 / 1 000 000 | 0.12 / 100 000 | Sweden | Value and class | Validated | 3421146[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.7 / 100 000 | Kuwait | Value and class | Validated | 10365582[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
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
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0004322 | Short stature | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/112
- This record as JSON: /data/d/112.json