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Síndrome Cantú
ORPHA:1517CID-10 · Q78.8CID-11 · LD2F.1YOMIM 239850DOENÇA RARA

A síndrome de Cantu é uma condição rara que se caracteriza por crescimento excessivo de pelos desde o nascimento, problemas no desenvolvimento dos ossos e das cartilagens, coração aumentado e alterações na aparência física.

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Introdução

O que você precisa saber de cara

📋

A síndrome de Cantu é uma condição rara que se caracteriza por crescimento excessivo de pelos desde o nascimento, problemas no desenvolvimento dos ossos e das cartilagens, coração aumentado e alterações na aparência física.

Publicações científicas
119 artigos
Último publicado: 1993

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
50
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q78.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
9 sintomas
😀
Face
8 sintomas
❤️
Coração
5 sintomas
👁️
Olhos
4 sintomas
🧬
Pele e cabelo
3 sintomas
🧠
Neurológico
2 sintomas

+ 24 sintomas em outras categorias

Características mais comuns

90%prev.
Borda do vermelhão espessa
Muito frequente (99-80%)
90%prev.
Hirsutismo generalizado
Muito frequente (99-80%)
90%prev.
Coxa valga
Muito frequente (99-80%)
90%prev.
Sobrancelha espessa
Muito frequente (99-80%)
90%prev.
Boca larga
Muito frequente (99-80%)
90%prev.
Traços faciais grosseiros
Muito frequente (99-80%)
58sintomas
Muito frequente (13)
Frequente (21)
Ocasional (4)
Sem dados (20)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 58 características clínicas mais associadas, ordenadas por frequência.

Borda do vermelhão espessaThick vermilion border
Muito frequente (99-80%)90%
Hirsutismo generalizadoGeneralized hirsutism
Muito frequente (99-80%)90%
Coxa valga
Muito frequente (99-80%)90%
Sobrancelha espessaThick eyebrow
Muito frequente (99-80%)90%
Boca largaWide mouth
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico119PubMed
Últimos 10 anos94publicações
Pico202017 papers
Linha do tempo
2026Hoje · 2026📈 2020Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.

KCNJ8ATP-sensitive inward rectifier potassium channel 8Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it (PubMed:20558321, PubMed:21836131, PubMed:24700710, PubMed:28842488). Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages (PubMed:20558321, PubMed:21836131, PubMed:24700710, PubMed:28842488). The inward rectification is

LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (1)
ATP sensitive Potassium channels
EXPRESSÃO TECIDUAL(Ubíquo)
Tecido adiposo
43.8 TPM
Adipose Visceral Omentum
40.8 TPM
Útero
40.3 TPM
Coração - Ventrículo esquerdo
40.2 TPM
Esôfago - Junção
39.0 TPM
OUTRAS DOENÇAS (2)
Brugada syndromehypertrichotic osteochondrodysplasia Cantu type
HGNC:6269UniProt:Q15842
ABCC9ATP-binding cassette sub-family C member 9Disease-causing germline mutation(s) inRestrito
FUNÇÃO

Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation (PubMed:9831708). Can form a sulfonylurea-sensitive but ATP-insensitive potassium channel with KCNJ8 (By similarity)

LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (3)
Ion homeostasisABC-family proteins mediated transportATP sensitive Potassium channels
MECANISMO DE DOENÇA

Cardiomyopathy, dilated, 1O

A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

OUTRAS DOENÇAS (7)
hypertrichotic osteochondrodysplasia Cantu typeintellectual disability and myopathy syndromeatrial fibrillation, familial, 12dilated cardiomyopathy 1O
HGNC:60UniProt:O60706

Variantes genéticas (ClinVar)

413 variantes patogênicas registradas no ClinVar.

🧬 KCNJ8: GRCh38/hg38 12p13.33-11.1(chr12:64621-34650483)x3 ()
🧬 KCNJ8: GRCh38/hg38 12p13.33-q13.12(chr12:82453-49847230)x3 ()
🧬 KCNJ8: NM_004982.4(KCNJ8):c.425G>A (p.Gly142Glu) ()
🧬 KCNJ8: GRCh37/hg19 12p13.33-11.1(chr12:173787-34835837)x3 ()
🧬 KCNJ8: NM_004982.4(KCNJ8):c.1238T>C (p.Met413Thr) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome Cantú

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
95 papers (10 anos)
#1

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome.

American journal of medical genetics. Part A2026 Jan 19

Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain-of-function of KATP-channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little attention in previous research. A total of 18 participants with molecular genetically confirmed CS were recruited, 11 females and 7 males, aged 9-63 years. Voice pitch analysis was conducted using the Voice Tools application, comparing these findings with normative data from healthy individuals. We show that adult females with CS exhibit voice pitches consistently lower than the normative values, particularly below the bottom quartile, suggesting a distinct impact of the underlying gene defect on the adult female voice phenotype. Conversely, adult males with CS show less noticeable deviations in voice pitch compared to healthy males. Children with CS exhibit a voice pitch closer to normative ranges. Adults with CS exhibit a lower voice pitch than healthy controls, especially evident in females. This study highlights the influence of CS on voice pitch, possibly influenced by anatomical abnormalities in CS such as enlarged craniofacial structures and connective tissue alterations affecting vocal fold mass and pliability.

#2

Cantu syndrome-associated SUR2[H60Y] mutation confers selective gain of function on Kir6.1 ATP-sensitive potassium channels.

The Journal of biological chemistry2026 Feb

Gain-of-function (GOF) mutations in either Kir6.1 (encoded by KCNJ8) or SUR2 (encoded by ABCC9) are causally associated with Cantu syndrome (CS), characterized by coarse facial appearance, hypertrichosis, and multiple cardiovascular abnormalities. To date, all SUR2 mutations identified in association with CS have demonstrated GOF because of reduced ATP sensitivity using patch-clamp analysis, with the notable exception of SUR2[H60Y], which showed WT behavior in Kir6.2-SUR2A channels. We readdressed the effect of SUR2[H60Y] on channel function of the relevant Kir6.1-SUR2B channels, in intact cells, in a more physiologically relevant condition using DiBAC4(3) membrane potential measurements. The H60Y mutation uniquely causes a GOF of Kir6.1-SUR2B channels but does not cause GOF in Kir6.2-SUR2B channels. By a chimeric approach, we identify regions of both the very N and C termini of Kir6.1 that are responsible for this effect and further identify a specific residue, valine 334, in Kir6.1, which is necessary for the isoform specificity.

#3

Expanding the literature on Cantú syndrome: recognising early clinical and phenotypic clues.

BMJ case reports2025 Dec 18

A late preterm (ex 35 weeks' gestation) male infant was referred at 5 weeks of age (term corrected) with respiratory distress and feeding difficulties which had been present since birth. Examination revealed hypertrichosis, coarse features, a harsh continuous murmur and 2 cm hepatomegaly. His echocardiogram identified a patent ductus arteriosus which failed initial medical treatment and required early device closure. Structural heart disease alongside characteristic phenotypic features, including hypertrichosis and coarse facial features, prompted targeted genetic evaluation which confirmed a pathogenic ABCC9 variant, diagnostic of Cantú syndrome. The early recognition of this rare diagnosis enabled coordinated multidisciplinary care and family counselling. This case expands the literature by highlighting early neonatal presentation and the importance of clinical suspicion based on characteristic features.

#4

Control of neurovascular coupling by ATP-sensitive potassium channels.

Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism2025 Jun

Regional blood flow within the brain is tightly coupled to regional neuronal activity, a process known as neurovascular coupling (NVC). In this study, we demonstrate the striking role of SUR2- and Kir6.1-dependent ATP-sensitive potassium (KATP) channels in control of NVC in the sensory cortex of conscious mice, in response to mechanical stimuli. We demonstrate that either globally increased (pinacidil-activated) or decreased (glibenclamide-inhibited) KATP activity markedly disrupts NVC; pinacidil-activation is capable of completely abolishing stimulus-evoked cortical hemodynamic responses, while glibenclamide slows and reduces the response. The response is similarly slowed and reduced in SUR2 KO animals, while animals expressing gain-of-function (GOF) mutations in Kir6.1, which underlie Cantú syndrome, exhibit baseline reduction of NVC as well as increased sensitivity to pinacidil. In revealing the dramatic effects of either increasing or decreasing SUR2/Kir6.1-dependent KATP activity on NVC, whether pharmacologically or genetically induced, the study has important implications both for monogenic KATP channel diseases and for more common brain pathologies.

#5

Muscle fatigue arising intrinsically from SUR2- but not Kir6.1-dependent gain-of-function in Cantu syndrome mice.

The Journal of general physiology2025 Nov 03

Cantu syndrome (CS) is a rare disease caused by gain-of-function (GOF) mutations of Kir6.1 or SUR2 subunits of ATP-sensitive potassium (KATP) channels. CS patients with SUR2 and Kir6.1 variants display a similar constellation of symptoms, including muscle weakness and fatigue. The effects of CS mutations on skeletal muscle KATP channels, and any consequent direct effects on contractility, are currently unclear. Here, we used two knock-in mouse models of CS, respectively, carrying GOF mutations Kir6.1[V65M] or SUR2[A478V], to assess KATP channel properties and contractility in isolated fast-twitch extensor digitorum longus (EDL) and slow-twitch soleus (SOL) muscles. Electrophysiological recordings in isolated myofibers showed normal resting potentials, and excised patch-clamp recordings showed normal KATP channel density in both genotypes, but enhanced Mg-nucleotide activation only in SUR2[A478V] fibers, consistent with muscle KATP channels being formed predominantly as complexes of SUR2A and Kir6.2 subunits. Ex vivo testing of isolated SUR2[A478V], but not Kir6.1[V65M], muscles showed an earlier onset of fatigue and a marked intra-tetanic decline of force compared with littermate controls. Importantly, normal contractile behavior was restored ex vivo and in vivo in SUR2[A478V] muscles in the presence of the FDA-approved KATP channel inhibitor glibenclamide, indicating that the increased fatigue of isolated muscles is a direct consequence of overactive sarcolemmal KATP channels. These results shed light on the pathophysiologic relevance of SUR2-dependent KATP channel subunits in skeletal muscle and highlight their role in fatiguing conditions, as well as identifying potential therapeutic benefit of skeletal muscle KATP inhibition in CS.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC85 artigos no totalmostrando 94

2026

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome.

American journal of medical genetics. Part A
2026

Cantu syndrome-associated SUR2[H60Y] mutation confers selective gain of function on Kir6.1 ATP-sensitive potassium channels.

The Journal of biological chemistry
2025

Expanding the literature on Cantú syndrome: recognising early clinical and phenotypic clues.

BMJ case reports
2025

Muscle fatigue arising intrinsically from SUR2- but not Kir6.1-dependent gain-of-function in Cantu syndrome mice.

The Journal of general physiology
2025

Gain-of-function mutations in KATP channel subunits compromise colonic tight junction integrity and epithelial homeostasis in murine models of Cantú syndrome.

Frontiers in medicine
2025

More than a Diagnosis: How Prenatal Identification of Cantú Syndrome Transformed a Family's Medical Narrative.

Journal of clinical medicine
2025

WITHDRAWAL: Cantú Syndrome: A New Case and Evolution of Clinical Conditions During First 2-Year Follow-Up.

Clinical case reports
2025

Bayliss-Starling Prize Lecture: KATP channel pathophysiology - a whole-body odyssey.

The Journal of physiology
2025

Treatment of overactive KATP channels with glibenclamide in a zebrafish model and a clinical trial in humans with Cantú syndrome.

Scientific reports
2025

Cantú Syndrome With Acromegaloid Features, Multiple Endocrinopathies, and Infection Susceptibility.

JCEM case reports
2025

Control of neurovascular coupling by ATP-sensitive potassium channels.

Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism
2024

[Clinical characteristics and genetic analysis of a child with Cantú syndrome due to variant of ABCC9 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2024

Mitochondrial Ca2+-coupled generation of reactive oxygen species, peroxynitrite formation, and endothelial dysfunction in Cantú syndrome.

JCI insight
2024

A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1.

American journal of medical genetics. Part A
2024

Electrophysiology of Human iPSC-derived Vascular Smooth Muscle Cells and Cell-autonomous Consequences of Cantú Syndrome Mutations.

Function (Oxford, England)
2023

Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature.

BMC pediatrics
2023

Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells.

The Journal of pharmacology and experimental therapeutics
2023

The Role of Ion Channels in Functional Gastrointestinal Disorders (FGID): Evidence of Channelopathies and Potential Avenues for Future Research and Therapeutic Targets.

International journal of molecular sciences
2023

Electrophysiology of human iPSC-derived vascular smooth muscle cells and cell autonomous consequences of Cantu Syndrome mutations.

bioRxiv : the preprint server for biology
2023

Overactive ATP-Sensitive K+ Channels Compromise Lymphatic Contractile Function in Cantú Syndrome.

Function (Oxford, England)
2023

Lymphatic contractile dysfunction in mouse models of Cantú Syndrome with KATP channel gain-of-function.

Function (Oxford, England)
2023

Immunohistochemical, pharmacovigilance, and omics analyses reveal the involvement of ATP-sensitive K+ channel subunits in cancers: role in drug-disease interactions.

Frontiers in pharmacology
2023

Zoledronic Acid Blocks Overactive Kir6.1/SUR2-Dependent KATP Channels in Skeletal Muscle and Osteoblasts in a Murine Model of Cantú Syndrome.

Cells
2023

Cantú syndrome: A new case and evolution of clinical conditions during first 2-year follow-up.

Clinical case reports
2022

A Unique High-Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome.

Journal of the American Heart Association
2022

Serious complication of low-dose oral minoxidil for hair loss.

JAAD case reports
2023

Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9.

European journal of human genetics : EJHG
2023

A Cantú syndrome mutation produces dual effects on KATP channels by disrupting ankyrin B regulation.

The Journal of general physiology
2023

Personalized Therapeutics for KATP-Dependent Pathologies.

Annual review of pharmacology and toxicology
2022

Kir6.1 and SUR2B in Cantú syndrome.

American journal of physiology. Cell physiology
2022

KATP channels in lymphatic function.

American journal of physiology. Cell physiology
2022

Case Report: Loss-of-Function ABCC9 Genetic Variant Associated With Ventricular Fibrillation.

Frontiers in genetics
2022

Bisphosphonates Targeting Ion Channels and Musculoskeletal Effects.

Frontiers in pharmacology
2022

Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature.

American journal of medical genetics. Part A
2021

Development of IKATP Ion Channel Blockers Targeting Sulfonylurea Resistant Mutant KIR6.2 Based Channels for Treating DEND Syndrome.

Frontiers in pharmacology
2022

Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes.

Journal of the European Academy of Dermatology and Venereology : JEADV
2022

ATP-sensitive potassium channels in zebrafish cardiac and vascular smooth muscle.

The Journal of physiology
2022

Approach to the Patient With Pseudoacromegaly.

The Journal of clinical endocrinology and metabolism
2021

Vascular KATP channel structural dynamics reveal regulatory mechanism by Mg-nucleotides.

Proceedings of the National Academy of Sciences of the United States of America
2022

Diverse clinical manifestations of Cantú syndrome: The first case series in Vietnam.

American journal of medical genetics. Part A
2021

Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome.

Cells
2021

Young adult with Cantú syndrome: dealing with a rare genetic skin disorder.

BMJ case reports
2021

ATP-sensitive potassium channels: key players in pathophysiology of many diseases.

Casopis lekaru ceskych
2021

Behavioral and cognitive functioning in individuals with Cantú syndrome.

American journal of medical genetics. Part A
2021

Corrigendum: A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantú syndrome.

Journal of the European Academy of Dermatology and Venereology : JEADV
2021

Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice.

JCI insight
2020

Pathophysiological Consequences of KATP Channel Overactivity and Pharmacological Response to Glibenclamide in Skeletal Muscle of a Murine Model of Cantù Syndrome.

Frontiers in pharmacology
2020

Generalized hypertrichosis syndromes in Mexico.

American journal of medical genetics. Part C, Seminars in medical genetics
2020

Kir6.1- and SUR2-dependent KATP overactivity disrupts intestinal motility in murine models of Cantú syndrome.

JCI insight
2020

Cantú syndrome with novel pathogenic variant in nucleotide-binding domain 1 of ABCC9.

Pediatrics international : official journal of the Japan Pediatric Society
2020

The Mechanism of High-Output Cardiac Hypertrophy Arising From Potassium Channel Gain-of-Function in Cantú Syndrome.

Function (Oxford, England)
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".

Function (Oxford, England)
2020

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.

European journal of medical genetics
2020

"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.

Advances in genetics
2020

Kir6.1-dependent KATP channels in lymphatic smooth muscle and vessel dysfunction in mice with Kir6.1 gain-of-function.

The Journal of physiology
2020

A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantú syndrome.

Journal of the European Academy of Dermatology and Venereology : JEADV
2020

Novel variants of ABCC9 in Japanese children with Cantú syndrome.

Pediatrics international : official journal of the Japan Pediatric Society
2020

Three-dimensional facial morphology in Cantú syndrome.

American journal of medical genetics. Part A
2020

The surprising complexity of KATP channel biology and of genetic diseases.

The Journal of clinical investigation
2020

Cantu syndrome: A longitudinal review of vascular findings in three individuals.

American journal of medical genetics. Part A
2020

Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil.

The Journal of dermatology
2019

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.

American journal of medical genetics. Part C, Seminars in medical genetics
2019

Cantú syndrome as a rare cause of pericardial effusion in a young woman.

British journal of hospital medicine (London, England : 2005)
2020

Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity.

The Journal of clinical investigation
2019

Cantu syndrome and hypopituitarism: implications for endocrine monitoring.

Endocrinology, diabetes &amp; metabolism case reports
2019

Dilated and tortuous retinal vessels as a sign of Cantu syndrome.

Ophthalmic genetics
2019

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.

Nature communications
2020

You "Cantu": Multidisciplinary Collaboration Resulting in Successful Orthognathic Surgery.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2019

Computational Identification of Novel Kir6 Channel Inhibitors.

Frontiers in pharmacology
2019

Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.

American journal of medical genetics. Part A
2019

Glibenclamide and HMR1098 normalize Cantú syndrome-associated gain-of-function currents.

Journal of cellular and molecular medicine
2019

Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotype.

Clinical dysmorphology
2018

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders.

Disease models &amp; mechanisms
2018

Cardiovascular consequences of KATP overactivity in Cantu syndrome.

JCI insight
2018

Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype.

The application of clinical genetics
2018

Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients.

Clinical dysmorphology
2018

Cantú syndrome with coexisting familial pituitary adenoma.

Endocrine
2018

Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms.

The Journal of biological chemistry
2017

Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.

The Journal of biological chemistry
2017

Cantú Syndrome Associated with Ovarian Agenesis.

Molecular syndromology
2017

Clinical and Molecular Delineation of a Novel Cys1050Phe Missense Mutation in the ABCC9 Gene in a Korean Patient with Cantú Syndrome.

Clinical laboratory
2017

Clinical utility gene card for: Cantú syndrome.

European journal of human genetics : EJHG
2016

Increased tolerance to stress in cardiac expressed gain-of-function of adenosine triphosphate-sensitive potassium channel subunit Kir6.1.

The Journal of surgical research
2016

[A new type of ATP-sensitive potassium channelopathy : Cantú syndrome].

No to hattatsu = Brain and development
2016

Neurologic and neuroimaging manifestations of Cantú syndrome: A case series.

Neurology
2016

Adenosine Triphosphate-Sensitive Potassium Currents in Heart Disease and Cardioprotection.

Cardiac electrophysiology clinics
2016

K(ATP) channel gain-of-function leads to increased myocardial L-type Ca(2+) current and contractility in Cantu syndrome.

Proceedings of the National Academy of Sciences of the United States of America
2016

The shifting landscape of KATP channelopathies and the need for 'sharper' therapeutics.

Future medicinal chemistry
2016

De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.

Pediatric dermatology
2015

Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.

The Journal of general physiology
2015

Topical sulfonylurea as a novel therapy for hypertrichosis secondary to diazoxide, and potentially for other conditions with excess hair growth.

Medical hypotheses
2015

Modeling Clinical States and Metabolic Rhythms in Bioarcheology.

BioMed research international
2015

ABCC9/SUR2 in the brain: Implications for hippocampal sclerosis of aging and a potential therapeutic target.

Ageing research reviews
2015

Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome.

Heart rhythm

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. The Voice of Cant&#xfa;: Lower Voice Pitch Is a New Phenotypic Feature of Cant&#xfa; Syndrome.
    American journal of medical genetics. Part A· 2026· PMID 41549877mais citado
  2. Cantu syndrome-associated SUR2[H60Y] mutation confers selective gain of function on Kir6.1 ATP-sensitive potassium channels.
    The Journal of biological chemistry· 2026· PMID 41448431mais citado
  3. Expanding the literature on Cant&#xfa; syndrome: recognising early clinical and phenotypic clues.
    BMJ case reports· 2025· PMID 41412937mais citado
  4. Control of neurovascular coupling by ATP-sensitive potassium channels.
    Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism· 2025· PMID 39819176mais citado
  5. Muscle fatigue arising intrinsically from SUR2- but not Kir6.1-dependent gain-of-function in Cantu syndrome mice.
    The Journal of general physiology· 2025· PMID 41055640mais citado
  6. Cantú Syndrome.
    · 1993· PMID 25275207recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1517(Orphanet)
  2. OMIM OMIM:239850(OMIM)
  3. MONDO:0009406(MONDO)
  4. GARD:8585(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q5034093(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome Cantú
Compêndio · Raras BR

Síndrome Cantú

ORPHA:1517 · MONDO:0009406
Prevalência
<1 / 1 000 000
Casos
50 casos conhecidos
Herança
Autosomal dominant, Not applicable
CID-10
Q78.8 · Outras osteocondrodisplasias especificadas
CID-11
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0795905
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

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