raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:620220

Bartter syndrome type 2

Synonyms: Bartter syndrome type II

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
LangNameSynonyms
enBartter syndrome type 2Bartter syndrome type II
frSyndrome de Bartter type 2Syndrome de Bartter type II
deBartter-Syndrom Typ 2Bartter-Syndrom Typ II
esSíndrome de Bartter tipo 2Síndrome de Bartter tipo II
itSindrome di Bartter tipo 2Sindrome di Bartter tipo II
nlSyndroom van Bartter type 2Syndroom van Bartter type II
ptSíndrome Bartter tipo 2Síndrome Bartter tipo II
plZespół Barttera typu 2= en
csBartterův syndrom typu 2= en
ukСиндром Барттера, тип 2Синдром Барттера, тип II
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM241200Evalidated
ICD-10E26.8NTBTattributedvalidated
ICD-11GB90.43NTBTindexvalidated
MONDO0009424Evalidated
MeSHC537651Evalidated
UMLSC1855849Evalidated

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):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
KCNJ1Disease-causing germline mutation(s) inAssessedHGNC:6255ENSG0000015170460035911q24.3potassium inwardly rectifying channel subfamily J member 126963954[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card