HALD3
MCID: HYP438
MIFTS: 25

Hyperaldosteronism, Familial, Type Iii (HALD3) malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Hyperaldosteronism, Familial, Type Iii

Aliases & Descriptions for Hyperaldosteronism, Familial, Type Iii:

Name: Hyperaldosteronism, Familial, Type Iii 54 24 13 69
Familial Hyperaldosteronism Type Iii 50 24 56 66
Familial Hyperaldosteronism Type 3 50 24 56 69
Fh Iii 50 24 66
Fh3 50 56 66
Familial Hyperaldosteronism 3 66 29
Fh-Iii 50 56
Hyperaldosteronism, Familial, 3 66
Fh Type Iii 66
Hald3 66

Characteristics:

Orphanet epidemiological data:

56
familial hyperaldosteronism type iii
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

HPO:

32
hyperaldosteronism, familial, type iii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 613677
Orphanet 56 ORPHA251274
ICD10 via Orphanet 34 E26.0
MedGen 40 C3150933
MeSH 42 D006929

Summaries for Hyperaldosteronism, Familial, Type Iii

OMIM : 54 This form of hyperaldosteronism is characterized by hypertension secondary to massive adrenal mineralocorticoid... (613677) more...

MalaCards based summary : Hyperaldosteronism, Familial, Type Iii, also known as familial hyperaldosteronism type iii, is related to aldosteronism, glucocorticoid-remediable and 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).

UniProtKB/Swiss-Prot : 66 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 Hyperaldosteronism family:

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

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

id Related Disease Score Top Affiliating Genes
1 aldosteronism, glucocorticoid-remediable 11.0
2 hyperaldosteronism 10.1
3 familial hyperaldosteronism 10.1
4 cushing's syndrome 9.8

Symptoms & Phenotypes for Hyperaldosteronism, Familial, Type Iii

Symptoms by clinical synopsis from OMIM:

613677

Clinical features from OMIM:

613677

Human phenotypes related to Hyperaldosteronism, Familial, Type Iii:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 headache 56 32 Occasional (29-5%) HP:0002315
2 nausea 56 32 Occasional (29-5%) HP:0002018
3 muscle weakness 56 32 Occasional (29-5%) HP:0001324
4 polydipsia 56 32 Occasional (29-5%) HP:0001959
5 hypertension 56 32 Obligate (100%) HP:0000822
6 hypokalemia 56 32 Very frequent (99-80%) HP:0002900
7 prolonged qt interval 56 32 Occasional (29-5%) HP:0001657
8 hypercalciuria 56 32 Occasional (29-5%) HP:0002150
9 left ventricular hypertrophy 56 32 Occasional (29-5%) HP:0001712
10 epistaxis 56 32 Occasional (29-5%) HP:0000421
11 intracranial hemorrhage 56 32 Occasional (29-5%) HP:0002170
12 tinnitus 56 32 Occasional (29-5%) HP:0000360
13 adrenal hyperplasia 56 32 Very frequent (99-80%) HP:0008221
14 abnormal circulating renin 56 32 Obligate (100%) HP:0040084
15 glucocortocoid-insensitive primary hyperaldosteronism 56 32 Very frequent (99-80%) HP:0011740
16 metabolic alkalosis 56 32 Occasional (29-5%) HP:0200114
17 polyuria 32 HP:0000103
18 hyperaldosteronism 32 HP:0000859
19 metabolic acidosis 32 HP:0001942
20 dexamethasone-suppresible primary hyperaldosteronism 56 Excluded (0%)
21 decreased circulating renin level 32 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:

id Genetic test Affiliating Genes
1 Familial Hyperaldosteronism Type 3 29
2 Hyperaldosteronism, Familial, Type Iii 24 KCNJ5

Anatomical Context for Hyperaldosteronism, Familial, Type Iii

Publications for Hyperaldosteronism, Familial, Type Iii

Variations for Hyperaldosteronism, Familial, Type Iii

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

66
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ5 NM_000890.3(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_000890.3(KCNJ5): c.452G> A (p.Gly151Glu) single nucleotide variant Pathogenic rs587777437 GRCh38 Chromosome 11, 128911725: 128911725
4 KCNJ5 NM_000890.3(KCNJ5): c.470T> G (p.Ile157Ser) single nucleotide variant Pathogenic rs587777438 GRCh38 Chromosome 11, 128911743: 128911743
5 KCNJ5 NM_000890.3(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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