ORPHA:251274

Familial hyperaldosteronism type III

Synonyms: FH-III · FH3 · Familial hyperaldosteronism type 3

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: Adolescent, Childhood, Infancy
Status: active

A rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non- glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial hyperaldosteronism type III	FH-III · FH3 · Familial hyperaldosteronism type 3
fr	Hyperaldostéronisme familial type III	FH-III · FH3 · Hyperaldostéronisme familial type 3
de	Hyperaldosteronismus, familiärer, Typ III	FH-III · FH3 · Familiärer Hyperaldosteronismus Typ 3
es	Hiperaldosteronismo familiar tipo III	FH-III · FH3 · Hiperaldosteronismo familiar tipo 3
it	Iperaldosteronismo familiare, tipo III	FH3 · Iperaldosteronismo familiare, tipo 3 · FH-III
nl	Familiaal hyperaldosteronisme type III	FH-III · FH3 · Familiaal hyperaldosteronisme type 3
pt	Hiperaldosteronismo familiar, tipo 3
pl	Rodzinny hiperaldosteronizm typu III	FH3 · FH-III · Rodzinny hiperaldosteronizm typu 3
cs	Familiární hyperaldosteronismus, typ III	FH-III · FH3 · Familiární hyperaldosteronismus, typ 3
uk	Сімейний гіперальдостеронізм, тип III	Сімейний гіперальдостеронізм типу 3 · FH3 · FH-III
zh	III型家族性醛固酮增多症	3型家族性醛固酮增多症
tr	Ailesel hiperaldosteronizm tip III	FH3 · FH-III · Ailesel hiperaldosteronizm tip 3

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	613677	E		validated
ICD-10	E26.0	NTBT	attributed	validated
ICD-11	5A72.0	NTBT	index	validated
MONDO	0013359	E		validated
UMLS	C3838758	E		validated
GARD	12362	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 (1):

ORPHA:235936Familial hyperaldosteronism
rare genetic diseases; rare renal diseases; rare endocrine diseases; rare transplant-related disorders

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
KCNJ5	Disease-causing germline mutation(s) (gain of function) in	Assessed	HGNC:6266	ENSG00000120457	600734	11q24.3	potassium inwardly rectifying channel subfamily J member 5	24817817[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		7 families	Worldwide	Family(ies)	Validated	24037882[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.

HPO phenotypes

17 annotations · validated 2016-08-29

HPO	Term (as annotated by Orphanet)	Diagnostic
Obligate (100%)
HP:0040084	Abnormal circulating renin
HP:0000822	Hypertension
Very frequent (99-80%)
HP:0008221	Adrenal hyperplasia
HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism
HP:0002900	Hypokalemia
Occasional (29-5%)
HP:0000421	Epistaxis
HP:0002315	Headache
HP:0002150	Hypercalciuria
HP:0002170	Intracranial hemorrhage
HP:0001712	Left ventricular hypertrophy
HP:0200114	Metabolic alkalosis
HP:0001324	Muscle weakness
HP:0002018	Nausea
HP:0001959	Polydipsia
HP:0001657	Prolonged QT interval
HP:0000360	Tinnitus
Excluded (0%)
HP:0011739	Dexamethasone-suppresible primary hyperaldosteronism

Run the differential on the 5 obligate / very frequent terms

Annotation source: 18505761[PMID]_23229280[PMID]_21311022[PMID]_26934393[PMID]_27036860[PMID]_27403928[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/251274
This record as JSON: /data/d/251274.json