This type can be treated with steroid medications called glucocorticoids, so it is also known as glucocorticoid remediable aldosteronism (GRA). (wikipedia.org)
Familial hyperaldosteronism type 1 (FH1), previously known as glucocorticoid -remediable aldosteronism , was the first identified monogenic cause of primary aldosteronism . (bvsalud.org)
Three distinct genetic-familial varieties of primary aldosteronism exist. (medscape.com)
Sutherland and colleagues first described the type 1 variety of familial primary aldosteronism, glucocorticoid-remediable aldosteronism (GRA), in 1966. (medscape.com)
Surgical excision of the affected adrenal gland is recommended for all patients with hyperaldosteronism who have a proven aldosterone-producing adenoma (APA). (medscape.com)
The abnormal ion flow results in the activation of biochemical processes (pathways) that lead to increased aldosterone production, causing the hypertension associated with familial hyperaldosteronism type III. (wikipedia.org)
Hypertension is a key feature of some uncommon genetic disorders, including familial hyperaldosteronism, pseudohypoaldosteronism type 2, Liddle syndrome, and tumors known as paragangliomas. (usppharm.com)
In addition, patients with hyperaldosteronism have more end organ manifestations such as left ventricular hypertrophy and have significant cardiovascular complications including higher rates of heart failure and atrial fibrillation compared to similarly matched patients with essential hypertension. (comprehensivephysiology.com)
Background: Severe deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2) triggers activation of mineralocorticoid receptor (MR) by cortisol and causing apparent mineralocorticoid excess (AME) syndrome characterized mostly by low-renin arterial hypertension and hypokalemia. (eurospe.org)
Background: Familial hyperaldosteronism type 1 (FH-1), is caused by the presence of a chimeric CYP11B1/CYP11B2 gene that produces high amounts of aldosterone in response to ACTH and severe hypertension. (eurospe.org)
Aldosterone5
Hyperaldosteronism is characterized by excessive secretion of aldosterone, which causes increases in sodium reabsorption and loss of potassium and hydrogen ions. (medscape.com)
[ 1 , 2 ] Hyperaldosteronism represents part of a larger entity of hypermineralocorticoidism that may be caused by aldosterone, its mineralocorticoid precursors, or defects that modulate aldosterone effects on its target tissues. (medscape.com)
The aldosterone-to-renin ratio (ARR)-that is, the ratio of plasma aldosterone (expressed in ng/dL) to plasma renin activity (PRA, expressed in ng/mL/h)-is the most sensitive means of differentiating primary from secondary causes of hyperaldosteronism. (medscape.com)
Although ANP levels are clearly increased in hyperaldosteronism, neither ANP nor dopamine has been implicated as a primary cause of clinically disordered aldosterone secretion. (medscape.com)
One of these patients with a high aldosterone/renin ratio concomitantly harboured the CYP11B1/CYP11B2 hybrid gene, which causes familial hyperaldosteronism, type 1. (shbc.com.sg)
Secondary Hyperaldosteronism1
Such depletion usually develops as a consequence of therapy with diuretics, primary or secondary hyperaldosteronism, diabetic ketoacidosis or inadequate replacement of potassium in patients on prolonged parenteral nutrition. (drugs.com)
Epilepsy, idiopathic generalized type 11 (sequence analysis of CLCN2 gene). (mendelian.co)
Benign1
Cancer consists of two types of cells: the benign and the malignant one. (drvikram.com)
Multiple endocrine1
Phaeochromocytomas are also associated with a number of syndromes, including von Hippel-Lindau disease, Sturge-Weber syndrome, tuberous sclerosis, neurofibromatosis type 1, and Multiple Endocrine Neoplasia (MEN) type 2a and 2b. (endocrinesurgeon.co.uk)
Adachi M , Tachibana K , Asakura Y , Abe S , Nakae J , Tajima T , Fujieda K . Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570‐1G→A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1. (comprehensivephysiology.com)
An important gene associated with Osteogenesis Imperfecta, Type Iii is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Extracellular matrix organization. (silexon.tech)
The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. (mousephenotype.org)
CYP11B11
Familial hyperaldosteronism type I is caused by the abnormal joining together (fusion) of two similar genes called CYP11B1 and CYP11B2, which are located close together on chromosome 8. (wikipedia.org)
Deficiency1
Both types of CAH due to 11-beta-hydroxylase deficiency interfere with the production of cortisol and corticosterone. (medlineplus.gov)
Cancer1
Breast cancer is one of the types of cancer which occurs in the breast involving one or both the breasts. (drvikram.com)
Cardiac1
Iizuka M, Kubo Y, Tsunenari I, Pan CX, Akiba I, Kono T: Functional characterization and localization of a cardiac-type inwardly rectifying K+ channel. (drugbank.com)
Interfere1
Spironolactone is the most effective drug for controlling the effects of hyperaldosteronism, though it may interfere with the progression of puberty. (medscape.com)
Periodic paralysis1
Arzel-Hezode M, McGoey S, Sternberg D, Vicart S, Eymard B, Fontaine B. Glucocorticoids may trigger attacks in several types of periodic paralysis. (medscape.com)
European Reference Network on Rare Endocrine Conditions mission is to reduce and ultimately abolish inequalities in care for patients with rare endocrine conditions in Europe, through facilitating knowledge sharing and facilitating related healthcare en research. (endo-ern.eu)
A steroid is a type of organic compound that contains a characteristic arrangement of four cycloalkane rings that are joined to each other. (absoluteastronomy.com)
Learn1
Note: If you'd like to get a target analysis report for Osteogenesis Imperfecta Type III , or if you are interested to learn how our AI-powered BDE-Chem can design therapeutic molecules to interact with the target(s) above against the disease of Osteogenesis Imperfecta Type III at a cost 90% lower than traditional approaches, please feel free to contact us at [email protected] . (silexon.tech)