ORPHA:88940

Pseudohypoaldosteronism type 2C

Synonyms: PHA2C

This disease is described under Pseudohypoaldosteronism type 2

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Pseudohypoaldosteronism type 2C	PHA2C
fr	Pseudohypoaldostéronisme type 2C	= en
de	Pseudohypoaldosteronismus Typ 2C	= en
es	Pseudohipoaldosteronismo tipo 2C	= en
it	Pseudoipoaldosteronismo, tipo 2C	= en
nl	Pseudohypoaldosteronisme type 2C	= en
pt	Pseudo-hipoaldosteronismo tipo 2C
pl	Pseudohipoaldosteronizm typu 2C	= en
cs	Pseudohypoaldosteronismus, typ 2C	= en
uk	Псевдогіпоальдостеронізм, тип 2С	= en
zh	假性醛固酮减少症2C型	= en
tr	Psödohipoaldosteronizm tip 2C	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	614492	E		validated
ICD-10	I15.1	NTBT	attributed	validated
ICD-11	BA04.Y	NTBT	index	validated
MONDO	0013778	E		validated
MeSH	C564162	E		validated
UMLS	C1840391	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:757Pseudohypoaldosteronism type 2
rare genetic diseases; rare renal diseases; rare transplant-related disorders

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
WNK1	Disease-causing germline mutation(s) in	Assessed	HGNC:14540	ENSG00000060237	605232	12p13.33	WNK lysine deficient protein kinase 1	22073419[PMID]

0 records

No prevalence record in this release.

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