HALD1
MCID: ALD010
MIFTS: 49

Aldosteronism, Glucocorticoid-Remediable (HALD1) malady

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

Aliases & Classifications for Aldosteronism, Glucocorticoid-Remediable

Aliases & Descriptions for Aldosteronism, Glucocorticoid-Remediable:

Name: Aldosteronism, Glucocorticoid-Remediable 54 13
Glucocorticoid-Remediable Aldosteronism 54 12 50 24 56 66 52 42 14 69
Familial Hyperaldosteronism Type 1 50 24 56 69
Glucocorticoid-Suppressible Hyperaldosteronism 24 66
Glucocorticoid Sensitive Hypertension 50 66
Dexamethasone Sensitive Hypertension 50 66
Familial Hyperaldosteronism Type I 56 66
Familial Hyperaldosteronism 1 66 29
Fh1 56 66
Gra 56 66
Acth-Dependent Hyperaldosteronism Syndrome 66
Aldosteronism, Sensitive to Dexamethasone 24
Aldosteronism Sensitive to Dexamethasone 66
Glucocorticoid-Sensitive Hypertension 56
Dexamethasone-Sensitive Hypertension 56
Hyperaldosteronism, Familial Type 1 50
Hyperaldosteronism, Familial, 1 66
Familial Aldosteronism Type I 69
Fh Type 1 66
Hald1 66
Fh-I 56
Fh I 66
Gsh 66

Characteristics:

Orphanet epidemiological data:

56
familial hyperaldosteronism type i
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

HPO:

32
aldosteronism, glucocorticoid-remediable:
Inheritance autosomal dominant inheritance
Onset and clinical course onset


Classifications:



External Ids:

OMIM 54 103900
Disease Ontology 12 DOID:14080
ICD10 33 E26.02
ICD9CM 35 255.11
NCIt 47 C123248
SNOMED-CT 64 237743003
Orphanet 56 ORPHA403
ICD10 via Orphanet 34 E26.0
MedGen 40 C1260386
UMLS 69 C1260386

Summaries for Aldosteronism, Glucocorticoid-Remediable

NIH Rare Diseases : 50 glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism. aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. it is caused by a fusion of the cyp11b1 and cyp11b2 genes and is inherited in an autosomal dominant manner. individuals with this condition usually have hypertension (high blood pressure) before age 21. these individuals are also at an increased risk for a certain type of stroke known as a hemorrhagic stroke. first-line therapy consists of a steroid such as prednisone, dexamethasone, or hydrocortisone. this will often correct the overproduction of aldosterone, lower the blood pressure, and correct the potassium levels. last updated: 6/12/2015

MalaCards based summary : Aldosteronism, Glucocorticoid-Remediable, also known as glucocorticoid-remediable aldosteronism, is related to hyperaldosteronism, familial, type iii and spastic ataxia 3, and has symptoms including headache, nausea and muscle weakness. An important gene associated with Aldosteronism, Glucocorticoid-Remediable is CYP11B1 (Cytochrome P450 Family 11 Subfamily B Member 1), and among its related pathways/superpathways are Peptide hormone metabolism and Renin secretion. The drugs Simvastatin and Atorvastatin Calcium have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, and related phenotypes are Increased transferrin (TF) endocytosis and cardiovascular system

OMIM : 54 Glucocorticoid-remediable aldosteronism is an autosomal dominant disorder characterized by hypertension, variable... (103900) more...

UniProtKB/Swiss-Prot : 66 Hyperaldosteronism, familial, 1: A disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension.

Wikipedia : 71 Glucocorticoid remediable aldosteronism (GRA), also describable as aldosterone synthase hyperactivity,... more...

Related Diseases for Aldosteronism, Glucocorticoid-Remediable

Diseases related to Aldosteronism, Glucocorticoid-Remediable via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
id Related Disease Score Top Affiliating Genes
1 hyperaldosteronism, familial, type iii 32.1 NR3C2 REN
2 spastic ataxia 3 10.2 CYP11B1 CYP11B2
3 intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.2 CYP11B1 CYP11B2
4 cardiomyopathy, dilated, 1v 10.2 CYP11B1 CYP11B2
5 smith-mccort dysplasia 2 10.2 NR3C2 REN
6 dystonia 25 10.2 NR3C2 REN
7 distal monosomy 14q 10.2 POMC REN
8 microphthalmia, syndromic 9 10.2 CYP11B1 POMC
9 glossopharyngeal nerve neoplasm 10.2 POMC REN
10 endometrial mixed adenocarcinoma 10.2 POMC REN
11 iris disease 10.1 AGT REN
12 cascade stomach 10.1 AGT REN
13 hyperuricemic nephropathy, familial juvenile 2 10.1 AGT REN
14 aplasia cutis congenita recessive 10.1 AGT CYP11B2
15 ameloblastoma 10.1 CYP11B1 POMC
16 malignant otitis externa 10.1 POMC REN
17 familial multiple trichodiscomas 10.1 POMC REN
18 lymphoproliferative syndrome 2 10.1 NR3C2 REN
19 eastern equine encephalitis 10.1 AGT REN
20 flat umbilicus familial 10.1 AGT REN
21 astroblastoma 10.1 POMC REN
22 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.1 NR3C1 NR3C2
23 episodic kinesigenic dyskinesia 2 10.1 AGT REN
24 hyperaldosteronism 10.1
25 familial hyperaldosteronism 10.1
26 retinitis pigmentosa 10.1 NR3C2 REN
27 schizotypal personality disorder 10.1 AGT REN
28 nonparalytic poliomyelitis 10.1 NR3C1 POMC
29 jackson-weiss syndrome 10.0 CYP11B1 CYP11B2 POMC
30 benign peritoneal mesothelioma 10.0 CYP11B1 CYP11B2 POMC
31 microphthalmia, isolated, with coloboma 7 10.0 CYP11B2 NR3C2 REN
32 second-degree atrioventricular block 10.0 CYP11B1 CYP11B2 POMC
33 critical limb ischemia 10.0 CYP11B2 NR3C2 REN
34 loeffler endocarditis 10.0 CYP11B1 POMC REN
35 hypogonadism mitral valve prolapse mental retardation 10.0 CYP11B2 POMC REN
36 indian tick typhus 10.0 POMC REN
37 endotheliitis 10.0
38 vestibular gland benign neoplasm 10.0 CYP11B2 POMC REN
39 laryngostenosis 10.0 AGT CYP11B2 NR3C2
40 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations 10.0 NR3C1 POMC
41 deafness, autosomal recessive 79 10.0 POMC REN
42 hypermobility syndrome 10.0 POMC REN
43 peeling skin syndrome 10.0 NR3C1 POMC
44 fatty liver disease 10.0 POMC REN
45 traumatic glaucoma 9.9 HSD11B2 POMC
46 glioma susceptibility 1 9.9 CYP11B1 CYP11B2 HSD11B2
47 neuroblastoma 9.9
48 adenoma 9.9
49 intracranial aneurysm 9.9
50 transposition of the great arteries 9.9

Graphical network of the top 20 diseases related to Aldosteronism, Glucocorticoid-Remediable:



Diseases related to Aldosteronism, Glucocorticoid-Remediable

Symptoms & Phenotypes for Aldosteronism, Glucocorticoid-Remediable

Symptoms by clinical synopsis from OMIM:

103900

Clinical features from OMIM:

103900

Human phenotypes related to Aldosteronism, Glucocorticoid-Remediable:

56 32 (show all 19)
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 Occasional (29-5%) HP:0002900
7 epistaxis 56 32 Occasional (29-5%) HP:0000421
8 intracranial hemorrhage 56 32 Occasional (29-5%) HP:0002170
9 preeclampsia 56 32 Occasional (29-5%) HP:0100602
10 tinnitus 56 32 Occasional (29-5%) HP:0000360
11 adrenal hyperplasia 56 32 Very frequent (99-80%) HP:0008221
12 dexamethasone-suppresible primary hyperaldosteronism 56 32 Obligate (100%) HP:0011739
13 abnormal circulating renin 56 32 Very frequent (99-80%) HP:0040084
14 caesarian section 56 32 Occasional (29-5%) HP:0011410
15 secretory adrenocortical adenoma 56 32 Occasional (29-5%) HP:0011746
16 hyperaldosteronism 32 HP:0000859
17 abnormality of the urinary system 32 HP:0000079
18 decreased circulating renin level 32 HP:0003351
19 adrenogenital syndrome 32 HP:0000840

GenomeRNAi Phenotypes related to Aldosteronism, Glucocorticoid-Remediable according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased transferrin (TF) endocytosis GR00363-A 9.17 AGT CYP11B1 CYP11B2 NR3C1 NR3C2 POMC

MGI Mouse Phenotypes related to Aldosteronism, Glucocorticoid-Remediable:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.01 AGT CYP11B1 CYP11B2 HSD11B2 NR3C1 NR3C2
2 behavior/neurological MP:0005386 9.98 AGT CYP11B1 HSD11B2 NR3C1 NR3C2 POMC
3 homeostasis/metabolism MP:0005376 9.92 AGT CYP11B1 CYP11B2 HSD11B2 NR3C1 NR3C2
4 growth/size/body region MP:0005378 9.91 AGT CYP11B1 CYP11B2 NR3C1 NR3C2 POMC
5 mortality/aging MP:0010768 9.8 POMC REN AGT CYP11B1 HSD11B2 NR3C1
6 adipose tissue MP:0005375 9.76 AGT CYP11B2 NR3C1 POMC
7 muscle MP:0005369 9.63 NR3C2 REN AGT CYP11B1 HSD11B2 NR3C1
8 nervous system MP:0003631 9.43 AGT CYP11B2 NR3C1 NR3C2 POMC REN
9 renal/urinary system MP:0005367 9.23 AGT CYP11B1 CYP11B2 HSD11B2 NR3C1 NR3C2

Drugs & Therapeutics for Aldosteronism, Glucocorticoid-Remediable

Drugs for Aldosteronism, Glucocorticoid-Remediable (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 3 79902-63-9 54454
2 Atorvastatin Calcium Phase 3 134523-03-8
3 Rosuvastatin Calcium Phase 3 147098-20-2
4 Pharmaceutical Solutions Phase 3
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
6 Immunoglobulins Phase 3
7 Antibodies, Monoclonal Phase 3
8 Antibodies Phase 3
9
Captopril Approved 62571-86-2 44093
10 glucocorticoids

Interventional clinical trials:


id Name Status NCT ID Phase
1 Efficacy and Safety of Alirocumab (SAR236553/REGN727) Versus Placebo on Top of Lipid-Modifying Therapy in Patients With Heterozygous Familial Hypercholesterolemia Not Adequately Controlled With Their Lipid-Modifying Therapy Completed NCT01623115 Phase 3
2 Diagnosis/Pathophysiology of Glucocorticoid Remediable Aldosteronism Hypertension Completed NCT00005394
3 Study of Prevalence and Clinical Phenotype in Patients With Glucocorticoid-Remediable Aldosteronism Completed NCT00004354
4 Primary Aldosteronism In Hypertensive Patients in China Recruiting NCT03155139

Search NIH Clinical Center for Aldosteronism, Glucocorticoid-Remediable

Cochrane evidence based reviews: glucocorticoid-remediable aldosteronism

Genetic Tests for Aldosteronism, Glucocorticoid-Remediable

Genetic tests related to Aldosteronism, Glucocorticoid-Remediable:

id Genetic test Affiliating Genes
1 Hyperaldosteronism, Familial, Type I 29
2 Glucocorticoid-Remediable Aldosteronism 24 CYP11B2

Anatomical Context for Aldosteronism, Glucocorticoid-Remediable

MalaCards organs/tissues related to Aldosteronism, Glucocorticoid-Remediable:

39
Adrenal Gland

Publications for Aldosteronism, Glucocorticoid-Remediable

Variations for Aldosteronism, Glucocorticoid-Remediable

ClinVar genetic disease variations for Aldosteronism, Glucocorticoid-Remediable:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CYP11B1 CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERA undetermined variant Pathogenic

Expression for Aldosteronism, Glucocorticoid-Remediable

Search GEO for disease gene expression data for Aldosteronism, Glucocorticoid-Remediable.

Pathways for Aldosteronism, Glucocorticoid-Remediable

GO Terms for Aldosteronism, Glucocorticoid-Remediable

Biological processes related to Aldosteronism, Glucocorticoid-Remediable according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 steroid biosynthetic process GO:0006694 9.54 CYP11B1 CYP11B2
2 steroid hormone mediated signaling pathway GO:0043401 9.52 NR3C1 NR3C2
3 cellular response to hormone stimulus GO:0032870 9.51 CYP11B1 CYP11B2
4 sterol metabolic process GO:0016125 9.49 CYP11B1 CYP11B2
5 angiotensin maturation GO:0002003 9.48 AGT REN
6 C21-steroid hormone biosynthetic process GO:0006700 9.46 CYP11B1 CYP11B2
7 glucocorticoid biosynthetic process GO:0006704 9.43 CYP11B1 HSD11B2
8 cellular response to potassium ion GO:0035865 9.4 CYP11B1 CYP11B2
9 renin-angiotensin regulation of aldosterone production GO:0002018 9.37 AGT REN
10 regulation of blood volume by renin-angiotensin GO:0002016 9.32 AGT REN
11 aldosterone biosynthetic process GO:0032342 9.26 CYP11B1 CYP11B2
12 cortisol biosynthetic process GO:0034651 9.16 CYP11B1 CYP11B2
13 regulation of blood volume by renal aldosterone GO:0002017 8.96 CYP11B2 HSD11B2
14 regulation of blood pressure GO:0008217 8.92 AGT CYP11B1 POMC REN

Molecular functions related to Aldosteronism, Glucocorticoid-Remediable according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 steroid hormone receptor activity GO:0003707 9.26 NR3C1 NR3C2
2 corticosterone 18-monooxygenase activity GO:0047783 9.16 CYP11B1 CYP11B2
3 steroid 11-beta-monooxygenase activity GO:0004507 8.96 CYP11B1 CYP11B2
4 steroid binding GO:0005496 8.8 HSD11B2 NR3C1 NR3C2

Sources for Aldosteronism, Glucocorticoid-Remediable

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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