ORPHA:404

Familial hyperaldosteronism type II

Synonyms: FH-II · FH2 · Familial hyperaldosteronism type 2

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: Adult
Status: active

A heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, non-glucocorticoid remediable hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA) and increased aldosterone-to-renin ratio.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial hyperaldosteronism type II	FH-II · FH2 · Familial hyperaldosteronism type 2
fr	Hyperaldostéronisme familial type II	FH-II · FH2 · Hyperaldostéronisme familial type 2
de	Hyperaldosteronismus, familiärer, Typ II	FH-II · FH2 · Familiärer Hyperaldosteronismus, Typ 2
es	Hiperaldosteronismo familiar tipo II	FH-II · FH2 · Hiperaldosteronismo familiar tipo 2
it	Iperaldosteronismo familiare, tipo II	FH-II · FH2 · Iperaldosteronismo familiare, tipo 2
nl	Familiaal hyperaldosteronisme type II	FH-II · FH2 · Familiaal hyperaldosteronisme type 2
pt	Hiperaldosteronismo familiar tipo II	FH-II · FH2 · Hiperaldosteronismo familiar tipo 2
pl	Rodzinny hiperaldosteronizm typu II	FH2 · FH-II · Rodzinny gruczolak nadnerczy · Rodzinny hiperaldosteronizm typu 2
cs	Familiární hyperaldosteronismus, typ II	FH-II · FH2 · Familiární adrenální adenom · Familiární hyperaldosteronismus, typ 2
uk	Сімейний гіперальдостеронізм, тип II	Сімейна аденома надниркових залоз · Сімейний гіперальдостеронізм 2 типу · FH2 · FH-II
zh	家族性醛固酮增多症II型	家族性醛固酮增多症II型
tr	Ailesel hiperaldosteronizm tip II	FH2 · FH-II · Ailesel adrenal adenom · Ailesel hiperaldosteronizm tip 2

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	605635	E		validated
ICD-10	E26.0	NTBT	inclusion	validated
ICD-11	5A72.0	NTBT	index	validated
MONDO	0011576	E		validated
MeSH	C565312	E		validated
UMLS	C1854107	E		validated
GARD	2789	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97978Rare endocrine disease

Parents in the classifications (3):

ORPHA:100091Adrenal/paraganglial tumor
rare endocrine diseases; rare neoplastic diseases
ORPHA:235936Familial hyperaldosteronism
rare genetic diseases; rare renal diseases; rare endocrine diseases; rare transplant-related disorders
ORPHA:271847Genetic neuroendocrine tumor
rare genetic diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CLCN2	Disease-causing germline mutation(s) in	Assessed	HGNC:2020	ENSG00000114859	600570	3q27.1	chloride voltage-gated channel 2	29403011[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
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.

HPO phenotypes

14 annotations · validated 2016-08-29

HPO	Term (as annotated by Orphanet)	Diagnostic
Obligate (100%)
HP:0000822	Hypertension
Very frequent (99-80%)
HP:0040084	Abnormal circulating renin
HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism
Frequent (79-30%)
HP:0011746	Secretory adrenocortical adenoma
Occasional (29-5%)
HP:0008221	Adrenal hyperplasia
HP:0000421	Epistaxis
HP:0002315	Headache
HP:0002900	Hypokalemia
HP:0002170	Intracranial hemorrhage
HP:0200114	Metabolic alkalosis
HP:0001324	Muscle weakness
HP:0002018	Nausea
HP:0000360	Tinnitus
Excluded (0%)
HP:0011739	Dexamethasone-suppresible primary hyperaldosteronism

Run the differential on the 3 obligate / very frequent terms

Annotation source: 20927129[PMID]_26934393[PMID]_27036860[PMID]_25667376[PMID]_20927129[PMID]_1521363[PMID]_9745430[PMID]_11073536[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/404
This record as JSON: /data/d/404.json