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Cantu syndrome

Known as: HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome 
National Institutes of Health

Related topics

Related topics

14 relations
ABCC9, CYS1043TYRAutosomal dominant inheritanceBicuspid aortic valveGingival Hypertrophy
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Broader (2)

HypertrichosisOsteochondrodysplasias

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Glibenclamide reverses cardiovascular abnormalities of Cantu Syndrome driven by KATP channel overactivity.
Cantu Syndrome (CS) is a complex disorder caused by gain-of-function (GoF) mutations in ABCC9 and KCNJ8, which encode the SUR2… 
2018
2018
Cardiovascular consequences of KATP overactivity in Cantu syndrome.
Cantu syndrome (CS) is characterized by multiple vascular and cardiac abnormalities including vascular dilation and tortuosity… 
2016
2016
KATP channel gain-of-function leads to increased myocardial L-type Ca2+ current and contractility in Cantu syndrome
Significance ATP-sensitive potassium (KATP) channels are present in cardiac and smooth muscle; when activated, they relax blood… 
Review
2013
Review
2013
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.
2011
2011
Cantu syndrome and lymphoedema
Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema… 
2007
2007
Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II.
CONTEXT The PTH/PTHrP receptor type 1 (PTHR1) has a key role in endochondral ossification, which is emphasized by diseases… 
Review
2006
Review
2006
Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations
Cantu syndrome, or hypertrichosis‐osteodysplasia‐cardiomegaly syndrome, is a rare disorder of unknown etiology, associated with… 
Review
2000
Review
2000
Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity
Abstract Blomstrand osteochondrodysplasia (BOCD) is a rare, autosomal recessive, lethal skeletal dysplasia characterized by… 
Highly Cited
1999
Highly Cited
1999
A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia.
Blomstrand osteochondrodysplasia (BOCD) is a rare lethal skeletal dysplasia characterized by accelerated endochondral and… 
1946
1946
Osteochondrodystrophia deformans (Morquio's disease); observations at autopsy in one case.
IN 1941, we reported 3 cases of osteochondrodystrophia deformans1(eccentro-osteochondrodysplasia). In 2 of these the disease was… 
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