ORPHA:300530

Pseudohypoaldosteronism type 2E

Synonyms: PHA2E

This disease is described under Pseudohypoaldosteronism type 2

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Pseudohypoaldosteronism type 2E	PHA2E
fr	Pseudohypoaldostéronisme type 2E	= en
de	Pseudohypoaldosteronismus Typ 2E	= en
es	Pseudohipoaldosteronismo tipo 2E	= en
it	Pseudoipoaldosteronismo, tipo 2E	= en
nl	Pseudohypoaldosteronisme type 2E	= en
pt	Pseudohipoaldosteronismo, tipo 2E
pl	Pseudohipoaldosteronizm typu 2E	= en
cs	Pseudohypoaldosteronismus, typ 2E	= en
uk	Псевдогіпоальдостеронізм, тип 2E	= en
zh	假性醛固酮减少症2E型	假性醛固酮减少症2E型
tr	Psödohipoaldosteronizm tip 2E	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	614496	E		validated
ICD-10	I15.1	NTBT	attributed	validated
ICD-11	BA04.Y	NTBT	index	validated
MONDO	0013782	E		validated
UMLS	C3469606	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
CUL3	Disease-causing germline mutation(s) in	Assessed	HGNC:2553	ENSG00000036257	603136	2q36.2	cullin 3	22073419[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		17 cases	Worldwide	Case(s)	Validated	22266938[PMID]
Point prevalence	<1 / 1 000 000	—	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.

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