ORPHA:89938
Bartter syndrome type 4
Synonyms: Bartter syndrome type IV · Bartter syndrome with sensorineural deafness · Bartter syndrome with sensorineural hearing loss
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bartter syndrome type 4 | Bartter syndrome type IV · Bartter syndrome with sensorineural deafness · Bartter syndrome with sensorineural hearing loss |
| fr | Syndrome de Bartter type 4 | Syndrome de Bartter avec surdité de perception · Syndrome de Bartter avec surdité neurosensorielle · Syndrome de Bartter type IV |
| de | Bartter-Syndrom Typ 4 | Bartter-Syndrom Typ IV · Bartter-Syndrom mit sensorineuraler Schwerhörigkeit |
| es | Síndrome de Bartter tipo 4 | Síndrome de Bartter con hipoacusia neurosensorial · Síndrome de Bartter con sordera neurosensorial · Síndrome de Bartter tipo IV |
| it | Sindrome di Bartter infantile con sordità neurosensoriale | Sindrome di Bartter con sordità neurosensoriale · Sindrome di Bartter tipo IV |
| nl | Syndroom van Bartter type 4 | Syndroom van Bartter met sensorineuraal gehoorverlies · Syndroom van Bartter type IV · Syndroom van met sensorineurale doofheid |
| pt | Síndrome Bartter tipo 4 | Síndrome Bartter com perda auditiva neurossensorial · Síndrome Bartter com surdez neurossensorial · Síndrome Bartter tipo IV |
| pl | Dziecięcy zespół Barttera z głuchotą zmysłowo-nerwową | Zespół Barttera typu 4 · Zespół Barttera typu IV |
| cs | Kojenecký Bartterův syndrom se senzorineurální hluchotou | Bartterův syndrom, typ 4 · Bartterův syndrom, typ IV |
| uk | Синдром Барттера, тип 4 | Синдром Барттера, тип IV · Синдром Барттера з сенсоневральною глухотою · Синдром Барттера з сенсоневральною приглухуватістю |
| zh | 小儿巴特综合征伴感音神经性聋 | 小儿Bartter综合征伴感音神经性听力丧失 |
| tr | Sensörinöral sağırlık ile seyreden infantil Bartter sendromu | Bartter sendromu tip 4 · Bartter sendromu tip IV · Sensörinöral işitme kaybı olan infantil Bartter sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602522 | BTNT | validated | |
| OMIM | 613090 | BTNT | validated | |
| ICD-10 | E26.8 | NTBT | attributed | validated |
| ICD-11 | GB90.43 | NTBT | index | validated |
| MONDO | 0019524 | E | validated | |
| UMLS | C3838860 | E | validated | |
| GARD | 10508 | 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 (3):
- ORPHA:112Bartter syndrome
rare genetic diseases; rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:98120OBSOLETE: Non-pore-loop channelopathy due to Cl- channel barttin anomaly referred to · inactive
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLCNKA | 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 | 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 | Disease-causing germline mutation(s) in | Assessed | HGNC:16512 | ENSG00000162399 | 606412 | 1p32.3 | barttin CLCNK type accessory subunit beta | 23110775[PMID] |
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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.
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HPO phenotypes
36 annotations · validated 2021-02-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0000841 | Hyperactive renin-angiotensin system | |
| HP:0002900 | Hypokalemia | |
| HP:0001960 | Hypokalemic metabolic alkalosis | |
| HP:0004727 | Impaired renal concentrating ability | |
| HP:0000859 | Increased circulating aldosterone concentration | |
| HP:0000848 | Increased circulating renin level | |
| HP:0000127 | Renal salt wasting | |
| Frequent (79-30%) | ||
| HP:0012622 | Chronic kidney disease | |
| HP:0025335 | Delayed ability to stand | |
| HP:0031936 | Delayed ability to walk | |
| HP:0001508 | Failure to thrive | |
| HP:0002150 | Hypercalciuria | |
| HP:0003527 | Hyperprostaglandinuria | |
| HP:0003113 | Hypochloremia | |
| HP:0002917 | Hypomagnesemia | |
| HP:0002902 | Hyponatremia | |
| HP:0001252 | Hypotonia | |
| HP:0003081 | Increased urinary potassium | |
| HP:0001270 | Motor delay | |
| HP:0001324 | Muscle weakness | |
| HP:0001561 | Polyhydramnios | |
| HP:0001622 | Premature birth | |
| HP:0001518 | Small for gestational age | |
| Occasional (29-5%) | ||
| HP:0001919 | Acute kidney injury | |
| HP:0002312 | Clumsiness | |
| HP:0001944 | Dehydration | |
| HP:0000712 | Emotional lability | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0001525 | Severe failure to thrive | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0000411 | Protruding ear | |
| HP:0000325 | Triangular face | |
| Excluded (0%) | ||
| HP:0000822 | Hypertension | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 11433084[PMID]_12574213[PMID]_31667618[PMID]_18310267[PMID]_16572343[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/89938
- This record as JSON: /data/d/89938.json