MCID: CNT094
MIFTS: 20

Cantú Syndrome and Related Disorders

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Cantú Syndrome and Related Disorders

MalaCards integrated aliases for Cantú Syndrome and Related Disorders:

Name: Cantú Syndrome and Related Disorders 24

Characteristics:

GeneReviews:

24
Penetrance Although penetrance for cantú syndrome and related disorders in familial cases reported thus far appears to be complete, molecular genetic testing has only been performed in a few families....

Classifications:



Summaries for Cantú Syndrome and Related Disorders

MalaCards based summary : Cantú Syndrome and Related Disorders is related to cantu syndrome and hypertrichosis. An important gene associated with Cantú Syndrome and Related Disorders is ABCC9 (ATP Binding Cassette Subfamily C Member 9), and among its related pathways/superpathways are Transmission across Chemical Synapses and Potassium Channels. Affiliated tissues include testes and smooth muscle.

GeneReviews: NBK246980

Related Diseases for Cantú Syndrome and Related Disorders

Diseases in the Cantu Syndrome family:

Cantú Syndrome and Related Disorders

Diseases related to Cantú Syndrome and Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 cantu syndrome 29.2 KCNJ8 ABCC9
2 hypertrichosis 28.9 KCNJ8 ABCC9
3 macroglossia 10.1
4 obsessive-compulsive disorder 10.1
5 patent ductus arteriosus 1 10.1
6 scoliosis 10.1
7 hemopericardium 10.1
8 pericardial effusion 10.1
9 tic disorder 10.1
10 polyhydramnios 10.1
11 acromegaloid hypertrichosis syndrome 10.1
12 lymphedema 10.1
13 cardiomyopathy, dilated, 1o 9.5 KCNJ8 ABCC9
14 coronary artery vasospasm 9.5 KCNJ8 ABCC9
15 brugada syndrome 9.5 KCNJ8 ABCC9

Symptoms & Phenotypes for Cantú Syndrome and Related Disorders

Drugs & Therapeutics for Cantú Syndrome and Related Disorders

Search Clinical Trials , NIH Clinical Center for Cantú Syndrome and Related Disorders

Genetic Tests for Cantú Syndrome and Related Disorders

Anatomical Context for Cantú Syndrome and Related Disorders

MalaCards organs/tissues related to Cantú Syndrome and Related Disorders:

41
Testes, Smooth Muscle

Publications for Cantú Syndrome and Related Disorders

Articles related to Cantú Syndrome and Related Disorders:

(show all 41)
# Title Authors PMID Year
1
A patient with Cantú syndrome associated with fatal bronchopulmonary dysplasia and pulmonary hypertension. 4
24715715 2014
2
Cantú syndrome resulting from activating mutation in the KCNJ8 gene. 4
24700710 2014
3
ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene. 4
24439875 2014
4
Aortic aneurysm and craniosynostosis in a family with Cantu syndrome. 4
24352916 2014
5
The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews. 4
23632791 2014
6
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. 4
24176758 2013
7
Hypotension due to Kir6.1 gain-of-function in vascular smooth muscle. 4
23974906 2013
8
KATP channels and cardiovascular disease: suddenly a syndrome. 4
23538276 2013
9
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. 4
23307537 2013
10
Acromegaloid facial appearance: case report and literature review. 4
23533839 2013
11
Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 4
22840528 2012
12
Cantú syndrome is caused by mutations in ABCC9. 4
22608503 2012
13
Dominant missense mutations in ABCC9 cause Cantú syndrome. 4
22610116 2012
14
Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. 4
21344641 2011
15
Cantu syndrome and lymphoedema. 4
20890180 2011
16
Pulmonary hypertension secondary to partial pulmonary venous obstruction in a child with Cantu syndrome. 4
20575102 2010
17
Muscle KATP channels: recent insights to energy sensing and myoprotection. 4
20664073 2010
18
J wave syndromes. 4
20153265 2010
19
Molecular identification and functional characterization of a mitochondrial sulfonylurea receptor 2 splice variant generated by intraexonic splicing. 4
19797704 2009
20
Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia. 4
19463983 2009
21
KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. 4
17245405 2007
22
Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. 4
16835932 2006
23
KATP channels as molecular sensors of cellular metabolism. 4
16554807 2006
24
Acromegaloid facial appearance syndrome: a further case report. 4
15365463 2004
25
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 4
15034580 2004
26
Acromegaloid facial appearance and hypertrichosis: a case suggesting autosomal recessive inheritance. 4
15127769 2004
27
Pseudoacromegaly induced by the long-term use of minoxidil. 4
12789195 2003
28
A syndrome of overgrowth and acromegaloidism with normal growth hormone secretion is associated with chromosome 11 pericentric inversion. 4
11403045 2001
29
Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). 4
11050630 2000
30
A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype. 4
10955485 2000
31
Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantú syndrome): a new case with unusual radiological findings. 4
10817653 2000
32
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. 4
10398267 1999
33
Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome. 4
9571276 1998
34
A new case of the acromegaloid facial appearance syndrome? 4
9546838 1998
35
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome. 4
9056550 1997
36
Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia. 4
8957508 1996
37
An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis. 4
8950682 1996
38
Acromegaloid facial appearance (AFA) syndrome: report of a second family. 4
1619638 1992
39
An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa. 4
3989825 1985
40
A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity. 4
7076246 1982
41
Cantú Syndrome and Related Disorders 38
25275207 2014

Variations for Cantú Syndrome and Related Disorders

Expression for Cantú Syndrome and Related Disorders

Search GEO for disease gene expression data for Cantú Syndrome and Related Disorders.

Pathways for Cantú Syndrome and Related Disorders

GO Terms for Cantú Syndrome and Related Disorders

Cellular components related to Cantú Syndrome and Related Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 8.96 KCNJ8 ABCC9
2 inward rectifying potassium channel GO:0008282 8.62 KCNJ8 ABCC9

Biological processes related to Cantú Syndrome and Related Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 defense response to virus GO:0051607 9.16 KCNJ8 ABCC9
2 potassium ion transport GO:0006813 8.96 KCNJ8 ABCC9
3 potassium ion import across plasma membrane GO:1990573 8.62 KCNJ8 ABCC9

Sources for Cantú Syndrome and Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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