Cantu syndrome

A rare hereditary autosomal dominant disorder characterized by congenital hypertrichosis, FETAL MACROSOMIA, a distinct osteochondrodysplasia, and cardiomegaly; additional HEART ABNORMALITIES are present in approximately 80% of cases. Motor development is usually delayed due to HYPOTONIA, most patients have a mild SPEECH DELAY, and a small percentage have LEARNING DISORDERS or INTELLECTUAL DISABILITY. Mutations in the ABCC9 gene have been identified. OMIM: 239850

Also Known As:

Networked: 15 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Cardiovascular Abnormalities
2.	Hypertrophy
3.	Channelopathies
4.	Congenital Hyperinsulinism
5.	Rare Diseases (Rare Disease)

Experts

1.	Nichols, Colin G: 6 articles (01/2021 - 11/2015)
2.	McClenaghan, Conor: 4 articles (01/2021 - 01/2018)
3.	Maqoud, Fatima: 2 articles (01/2022 - 01/2021)
4.	Scala, Rosa: 2 articles (01/2022 - 01/2021)
5.	Tricarico, Domenico: 2 articles (01/2022 - 01/2021)
6.	Halabi, Carmen M: 2 articles (01/2021 - 01/2020)
7.	Hanson, Alex: 2 articles (01/2021 - 01/2018)
8.	Harter, Theresa M: 2 articles (01/2021 - 01/2020)
9.	Kovacs, Atilla: 2 articles (01/2021 - 01/2016)
10.	Remedi, Maria S: 2 articles (01/2021 - 01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cantu syndrome:

1.	KATP ChannelsIBA 01/01/2020 - "Cantu syndrome (CS) is a complex disorder caused by gain-of-function (GoF) mutations in ABCC9 and KCNJ8, which encode the SUR2 and Kir6.1 subunits, respectively, of vascular smooth muscle (VSM) KATP channels. " 01/01/2018 - "Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms." 01/01/2016 - "Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in genes encoding pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) KATP channel subunits. " 12/20/2022 - "Methods and Results We sought to systematically characterize high-output cardiac hypertrophy in subjects with Cantu syndrome (CS), caused by gain-of-function variants in ABCC9, which encodes cardiovascular KATP (ATP-sensitive potassium) channel subunits. " 01/01/2020 - "In this issue of the JCI, McClenaghan et al. explored one of the channelopathies, namely Cantu syndrome (CS), which is a result of one kind of KATP channel mutation. "
2.	Adenosine Triphosphate (ATP)IBA 01/01/2023 - "The indel1055 variant causes gain-of-function of the channel, with an increase of the IC50 for ATP inhibition compared to WT. Retrospective consideration of this individual reveals clear features of Cantu Syndrome. " 01/01/2016 - "K(ATP) channel gain-of-function leads to increased myocardial L-type Ca(2+) current and contractility in Cantu syndrome." 07/01/2023 - "Cantu Syndrome (CS), a multisystem disease with a complex cardiovascular phenotype, is caused by GoF variants in the Kir6.1/SUR2 subunits of ATP-sensitive potassium (K ATP ) channels, and is characterized by low systemic vascular resistance, as well as tortuous, dilated vessels, and decreased pulse-wave velocity. " 01/01/2021 - "(1) Background: Cantu syndrome (CS) arises from gain-of-function (GOF) mutations in the ABCC9 and KCNJ8 genes, which encode ATP-sensitive K+ (KATP) channel subunits SUR2 and Kir6.1, respectively. " 01/01/2021 - "Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (KATP) channel subunits, the most common mutations being SUR2[R1154Q] and SUR2[R1154W], carried by approximately 30% of patients. "
3.	PotassiumIBA 07/01/2023 - "Cantu Syndrome (CS), a multisystem disease with a complex cardiovascular phenotype, is caused by GoF variants in the Kir6.1/SUR2 subunits of ATP-sensitive potassium (K ATP ) channels, and is characterized by low systemic vascular resistance, as well as tortuous, dilated vessels, and decreased pulse-wave velocity. " 01/01/2021 - "Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (KATP) channel subunits, the most common mutations being SUR2[R1154Q] and SUR2[R1154W], carried by approximately 30% of patients. " 01/01/2018 - "The complex disorder Cantu syndrome (CS) arises from gain-of-function mutations in either KCNJ8 or ABCC9, the genes encoding the Kir6.1 and SUR2 subunits of ATP-sensitive potassium (KATP) channels, respectively. "
4.	Potassium Channels (Potassium Channel)IBA 01/01/2020 - "The Pathophysiology of Cardiac Abnormalities in Cantu Syndrome: Perspective on "The Mechanism of High-Output Cardiac Hypertrophy Arising From Potassium Channel Gain-of-Function in Cantú Syndrome"."
5.	Minoxidil (Rogaine)FDA LinkGeneric 03/01/2020 - "Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil."
6.	Glyburide (Glibenclamide)FDA LinkGeneric 01/01/2020 - "Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity."
7.	DNA (Deoxyribonucleic Acid)IBA 01/01/2011 - "We analyzed the DNA of a patient with Cantu syndrome on the Affymetrix Cytogenetics Whole-Genome 2.7M array for copy number variations (CNVs). "

Therapies and Procedures

1.	Therapeutics 01/01/2016 - "More recently, the discovery of rare disease-causing mutations in KATP channel-encoding genes has highlighted the need for new therapeutics for the treatment of certain forms of neonatal diabetes mellitus, congenital hyperinsulinism and Cantu syndrome. "