MCID: HYP438
MIFTS: 28

Hyperaldosteronism, Familial, Type Iii

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Nephrological diseases, Cardiovascular diseases

Aliases & Classifications for Hyperaldosteronism, Familial, Type Iii

MalaCards integrated aliases for Hyperaldosteronism, Familial, Type Iii:

Name: Hyperaldosteronism, Familial, Type Iii 53 13 69
Familial Hyperaldosteronism Type 3 49 55 28 69
Familial Hyperaldosteronism Type Iii 49 55 71
Fh Iii 53 49 71
Fh3 49 55 71
Fh-Iii 49 55
Hald3 53 71
Hyperaldosteronism, Familial, 3 71
Familial Hyperaldosteronism 3 71
Fh Type Iii 71

Characteristics:

Orphanet epidemiological data:

55
familial hyperaldosteronism type iii
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset of symptoms in first decade of life
patients with medication-resistant hypertension require bilateral adrenalectomy


HPO:

31
hyperaldosteronism, familial, type iii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare endocrine diseases


Summaries for Hyperaldosteronism, Familial, Type Iii

OMIM : 53 This form of hyperaldosteronism is characterized by hypertension secondary to massive adrenal mineralocorticoid production. Like patients with glucocorticoid-remediable aldosteronism (GRA, or FH I; 103900), patients with FH III present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18-hydroxycortisol. However, hypertension and aldosteronism in FH III are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension (Geller et al., 2008). (613677)

MalaCards based summary : Hyperaldosteronism, Familial, Type Iii, also known as familial hyperaldosteronism type 3, is related to hypercholesterolemia, autosomal dominant, 3 and familial hyperaldosteronism, and has symptoms including headache, nausea and muscle weakness. An important gene associated with Hyperaldosteronism, Familial, Type Iii is KCNJ5 (Potassium Voltage-Gated Channel Subfamily J Member 5). Affiliated tissues include adrenal gland.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Primary hyperaldosteronism.

UniProtKB/Swiss-Prot : 71 Hyperaldosteronism, familial, 3: A form of hyperaldosteronism characterized by hypertension secondary to massive adrenal mineralocorticoid production. HALD3 patients present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18- hydroxycortisol. Hypertension and aldosteronism are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension.

Related Diseases for Hyperaldosteronism, Familial, Type Iii

Diseases in the Familial Hyperaldosteronism family:

Hyperaldosteronism, Familial, Type I Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Familial, Type Iii Hyperaldosteronism, Familial, Type Iv

Diseases related to Hyperaldosteronism, Familial, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, autosomal dominant, 3 10.9
2 familial hyperaldosteronism 10.2
3 conn's syndrome 9.8

Symptoms & Phenotypes for Hyperaldosteronism, Familial, Type Iii

Symptoms via clinical synopsis from OMIM:

53
Laboratory Abnormalities:
hypokalemia
decreased plasma renin activity
hypercalciuria (in some patients)
paradoxical increase or no change in serum aldosterone and blood pressure after dexamethasone administration

Cardiovascular Vascular:
hypertension, severe

Endocrine Features:
adrenal hyperplasia, bilateral
elevated serum aldosterone
elevated 18-hydroxycortisol
elevated 18-oxocortisol

Metabolic Features:
metabolic acidosis (in some patients)
polydipsia (in some patients)

Genitourinary Kidneys:
adrenal hyperplasia, bilateral
elevated aldosterone secretion
hyperplasia of zona fasciculata of adrenal gland
hyperplasia of zona glomerulosa of adrenal gland
atrophic zona glomerulosa of adrenal gland (rare)
more
Muscle Soft Tissue:
muscle weakness, hypokalemia-related


Clinical features from OMIM:

613677

Human phenotypes related to Hyperaldosteronism, Familial, Type Iii:

55 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 headache 55 31 occasional (7.5%) Occasional (29-5%) HP:0002315
2 nausea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002018
3 muscle weakness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001324
4 polydipsia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001959
5 hypertension 55 31 obligate (100%) Obligate (100%) HP:0000822
6 hypokalemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002900
7 prolonged qt interval 55 31 occasional (7.5%) Occasional (29-5%) HP:0001657
8 hypercalciuria 55 31 occasional (7.5%) Occasional (29-5%) HP:0002150
9 left ventricular hypertrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001712
10 epistaxis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000421
11 intracranial hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0002170
12 tinnitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000360
13 adrenal hyperplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0008221
14 abnormal circulating renin 55 31 obligate (100%) Obligate (100%) HP:0040084
15 glucocortocoid-insensitive primary hyperaldosteronism 55 31 hallmark (90%) Very frequent (99-80%) HP:0011740
16 metabolic alkalosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0200114
17 polyuria 31 occasional (7.5%) HP:0000103
18 hyperaldosteronism 31 HP:0000859
19 metabolic acidosis 31 occasional (7.5%) HP:0001942
20 dexamethasone-suppresible primary hyperaldosteronism 55 Excluded (0%)
21 decreased circulating renin level 31 HP:0003351

Drugs & Therapeutics for Hyperaldosteronism, Familial, Type Iii

Search Clinical Trials , NIH Clinical Center for Hyperaldosteronism, Familial, Type Iii

Genetic Tests for Hyperaldosteronism, Familial, Type Iii

Genetic tests related to Hyperaldosteronism, Familial, Type Iii:

# Genetic test Affiliating Genes
1 Familial Hyperaldosteronism Type 3 28 KCNJ5

Anatomical Context for Hyperaldosteronism, Familial, Type Iii

MalaCards organs/tissues related to Hyperaldosteronism, Familial, Type Iii:

38
Adrenal Gland

Publications for Hyperaldosteronism, Familial, Type Iii

Articles related to Hyperaldosteronism, Familial, Type Iii:

# Title Authors Year
1
Disordered zonal and cellular CYP11B2 enzyme expression in familial hyperaldosteronism type 3. ( 27793677 )
2017

Variations for Hyperaldosteronism, Familial, Type Iii

UniProtKB/Swiss-Prot genetic disease variations for Hyperaldosteronism, Familial, Type Iii:

71
# Symbol AA change Variation ID SNP ID
1 KCNJ5 p.Gly151Arg VAR_065930 rs386352319
2 KCNJ5 p.Thr158Ala VAR_065931 rs387906778
3 KCNJ5 p.Gly151Glu VAR_067090 rs587777437
4 KCNJ5 p.Tyr152Cys VAR_077577
5 KCNJ5 p.Ile157Ser VAR_077578 rs587777438

ClinVar genetic disease variations for Hyperaldosteronism, Familial, Type Iii:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ5 NM_000890.4(KCNJ5): c.472A> G (p.Thr158Ala) single nucleotide variant Pathogenic rs387906778 GRCh37 Chromosome 11, 128781640: 128781640
2 KCNJ5 NM_000890.3(KCNJ5): c.451G> A (p.Gly151Arg) single nucleotide variant Pathogenic/Likely pathogenic rs386352319 GRCh37 Chromosome 11, 128781619: 128781619
3 KCNJ5 NM_000890.4(KCNJ5): c.452G> A (p.Gly151Glu) single nucleotide variant Pathogenic rs587777437 GRCh38 Chromosome 11, 128911725: 128911725
4 KCNJ5 NM_000890.4(KCNJ5): c.470T> G (p.Ile157Ser) single nucleotide variant Pathogenic rs587777438 GRCh38 Chromosome 11, 128911743: 128911743
5 KCNJ5 NM_000890.4(KCNJ5): c.736G> A (p.Glu246Lys) single nucleotide variant Pathogenic rs587777439 GRCh38 Chromosome 11, 128912009: 128912009

Expression for Hyperaldosteronism, Familial, Type Iii

Search GEO for disease gene expression data for Hyperaldosteronism, Familial, Type Iii.

Pathways for Hyperaldosteronism, Familial, Type Iii

GO Terms for Hyperaldosteronism, Familial, Type Iii

Sources for Hyperaldosteronism, Familial, Type Iii

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70 UMLS via Orphanet
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