HTOCD
MCID: CNT056
MIFTS: 48

Cantu Syndrome (HTOCD)

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

Aliases & Classifications for Cantu Syndrome

MalaCards integrated aliases for Cantu Syndrome:

Name: Cantu Syndrome 57 12 20 43 72 44 70
Hypertrichotic Osteochondrodysplasia 57 20 43 72 13
Hypertrichotic Osteochondrodysplasia Cantu Type 12 29 6 15
Cantú Syndrome 25 43
Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome 43
Hypertrichotic Osteochondrodysplasia, Cantu Type 58
Osteochondrodysplasia, Hypertrichotic 39
Craniofaciocardioskeletal Syndrome 20
Htocd 72

Characteristics:

Orphanet epidemiological data:

58
hypertrichotic osteochondrodysplasia, cantu type
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
cantu syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance for cantú syndrome in familial cases reported thus far appears to be complete although with variable expression [grange et al 2019]. in a few families, somatic mosaicism for an abcc9 variant has been identified in one of the parents, resulting in much milder phenotypic manifestations [grange et al 2019; dk grange, unpublished].

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060569
OMIM® 57 239850
MESH via Orphanet 45 C535572
ICD10 via Orphanet 33 Q78.8
UMLS via Orphanet 71 C0795905
Orphanet 58 ORPHA1517
MedGen 41 C0795905
UMLS 70 C0795905

Summaries for Cantu Syndrome

MedlinePlus Genetics : 43 Cantú syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals.People with Cantú syndrome have thick scalp hair that extends onto the forehead and grows down onto the cheeks in front of the ears. They also have increased body hair, especially on the back, arms, and legs. Most affected individuals have a large head (macrocephaly) and distinctive facial features that are described as "coarse." These include a broad nasal bridge, skin folds covering the inner corner of the eyes (epicanthal folds), and a wide mouth with full lips. As affected individuals get older, the face lengthens, the chin becomes more prominent, and the eyes become deep-set.Many infants with Cantú syndrome are born with a heart defect such as an enlarged heart (cardiomegaly) or patent ductus arteriosus (PDA). The ductus arteriosus is a connection between two major arteries, the aorta and the pulmonary artery. This connection is open during fetal development and normally closes shortly after birth. However, the ductus arteriosus remains open, or patent, in babies with PDA. Other heart problems have also been found in people with Cantú syndrome, including an abnormal buildup of fluid around the heart (pericardial effusion) and high blood pressure in the blood vessels that carry blood from the heart to the lungs (pulmonary hypertension).Additional features of this condition include distinctive skeletal abnormalities, a large body size (macrosomia) at birth, a reduced amount of fat under the skin (subcutaneous fat) beginning in childhood, deep horizontal creases in the palms of the hands and soles of the feet, and an increased susceptibility to respiratory infections. Other signs and symptoms that have been reported include abnormal swelling in the body's tissues (lymphedema), side-to-side curvature of the spine (scoliosis), and reduced bone density (osteopenia). Some affected children have weak muscle tone (hypotonia) that delays the development of motor skills such as sitting, standing, and walking. Most have mildly delayed speech, and some affected children have mild intellectual disability or learning problems.

MalaCards based summary : Cantu Syndrome, also known as hypertrichotic osteochondrodysplasia, is related to hypertrichosis and cardiomyopathy, dilated, 1o. An important gene associated with Cantu Syndrome is ABCC9 (ATP Binding Cassette Subfamily C Member 9), and among its related pathways/superpathways are Potassium Channels and Inwardly rectifying K+ channels. Affiliated tissues include heart, bone and brain, and related phenotypes are coarse facial features and thick vermilion border

Disease Ontology : 12 An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1517 Definition Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism. Epidemiology To date, fewer than 30 cases have been reported. Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, prominent mouth with full lips and macroglossia. Affected individuals have hypertrichosis with thick scalp hair extending onto the forehead and generalized increased body hair. Cardiomegaly is found in the majority of patients and pericardial effusions have been present occasionally. Additional findings in most patients included thickened calvarium, broad ribs and metaphyseal widening of long bones with enlarged medullary canals. Mild intellectual deficiency has been described in several patients. Etiology Most cases appear to be sporadic but a few familial cases, with predominantly autosomal dominant inheritance, have been reported.

OMIM® : 57 Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair which extends onto the forehead and to a general increase in body hair. Some features are suggestive of a storage disorder, including macrocephaly and coarse facial features, with a broad nasal bridge, epicanthal folds, wide mouth, and full lips. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions 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 difficulties or intellectual disability (summary by van Bon et al., 2012). (239850) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Hypertrichotic osteochondrodysplasia: A rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair, which extends onto the forehead, and a general increase in body hair. In addition, macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full lips, can be suggestive of a storage disorder. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions 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 difficulties or intellectual disability.

Wikipedia : 73 Cantú syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and... more...

GeneReviews: NBK246980

Related Diseases for Cantu Syndrome

Diseases related to Cantu Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 hypertrichosis 30.7 KCNJ8 KCNJ11 ABCC9 ABCC8
2 cardiomyopathy, dilated, 1o 30.4 KCNJ8 KCNJ11 ABCC9 ABCC8
3 hair defect-photosensitivity-intellectual disability syndrome 11.4
4 acromegaloid facial appearance syndrome 11.2
5 cutis laxa, autosomal dominant 1 11.0
6 autosomal recessive cutis laxa type i 11.0
7 munchausen by proxy 10.3 KCNJ11 ABCC8
8 factitious disorder 10.3 KCNJ11 ABCC8
9 acute insulin response 10.3 KCNJ11 ABCC8
10 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.3 KCNJ11 ABCC8
11 maturity-onset diabetes of the young, type 13 10.3 KCNJ11 ABCC8
12 maturity-onset diabetes of the young, type 11 10.3 KCNJ11 ABCC8
13 hyperinsulinemic hypoglycemia, familial, 7 10.3 KCNJ11 ABCC8
14 maturity-onset diabetes of the young, type 7 10.3 KCNJ11 ABCC8
15 autosomal dominant non-syndromic intellectual disability 6 10.3 MANSC1 FAM234B
16 maturity-onset diabetes of the young, type 9 10.3 KCNJ11 ABCC8
17 asphyxia neonatorum 10.3 KCNJ11 ABCC8
18 patent ductus arteriosus 1 10.3
19 hyperinsulinemic hypoglycemia, familial, 6 10.3 KCNJ11 ABCC8
20 maturity-onset diabetes of the young, type 6 10.2 KCNJ11 ABCC8
21 maturity-onset diabetes of the young, type 10 10.2 KCNJ11 ABCC8
22 coronary artery vasospasm 10.2 KCNJ8 KCNJ11 ABCC8
23 maturity-onset diabetes of the young, type 4 10.2 KCNJ11 ABCC8
24 maturity-onset diabetes of the young, type 3 10.2 MIA2 KCNJ11 ABCC8
25 maturity-onset diabetes of the young, type 2 10.2 KCNJ11 ABCC8
26 permanent neonatal diabetes mellitus 10.2 KCNJ8 KCNJ11 ABCC8
27 neonatal diabetes 10.2 KCNJ8 KCNJ11 ABCC8
28 familial isolated dilated cardiomyopathy 10.2
29 arteriolosclerosis 10.1 TMEM106B ABCC9
30 diabetes mellitus, ketosis-prone 10.1 KCNJ11 ABCC8
31 familial atrial fibrillation 10.1 KCNJ8 KCNJ11 ABCC9
32 odontochondrodysplasia 10.1
33 aortic aneurysm 10.1
34 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.1 KCNJ11 ABCC8
35 migraine with or without aura 1 10.1
36 polyhydramnios 10.1
37 long qt syndrome 1 10.0 KCNJ8 KCNJ11 ABCC8
38 renal cysts and diabetes syndrome 10.0 KCNJ11 ABCC8
39 heterochromia iridis 9.9
40 hypercholesterolemia, familial, 1 9.9
41 aortic aneurysm, familial thoracic 1 9.9
42 chromosome 1p36 deletion syndrome 9.9
43 pulmonary hypertension 9.9
44 autosomal recessive disease 9.9
45 atrioventricular block 9.9
46 non-alcoholic steatohepatitis 9.9
47 arteriovenous malformation 9.9
48 hemopericardium 9.9
49 pericardial effusion 9.9
50 craniosynostosis 9.9

Graphical network of the top 20 diseases related to Cantu Syndrome:



Diseases related to Cantu Syndrome

Symptoms & Phenotypes for Cantu Syndrome

Human phenotypes related to Cantu Syndrome:

58 31 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 thick vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0012471
3 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
4 cardiomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001640
5 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
6 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
7 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
8 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
9 low anterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0000294
10 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
11 coxa valga 58 31 hallmark (90%) Very frequent (99-80%) HP:0002673
12 long eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000527
13 curly eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0007665
14 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
15 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
16 skeletal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002652
17 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
18 prominent supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0000336
19 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
20 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
21 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
22 broad hallux phalanx 58 31 frequent (33%) Frequent (79-30%) HP:0010059
23 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
24 broad ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000885
25 ovoid vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003300
26 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
27 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
28 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
29 platyspondyly 58 31 frequent (33%) Frequent (79-30%) HP:0000926
30 short hallux 58 31 frequent (33%) Frequent (79-30%) HP:0010109
31 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
32 short distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009882
33 deep plantar creases 58 31 frequent (33%) Frequent (79-30%) HP:0001869
34 cuboid-shaped vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0004634
35 abnormal heart valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001654
36 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
37 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
38 accelerated skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005616
39 depressed nasal bridge 31 HP:0005280
40 gingival overgrowth 31 HP:0000212
41 prominent forehead 31 HP:0011220
42 thick lower lip vermilion 31 HP:0000179
43 lymphedema 31 HP:0001004
44 bicuspid aortic valve 31 HP:0001647
45 large for gestational age 31 HP:0001520
46 thick upper lip vermilion 31 HP:0000215
47 pericardial effusion 31 HP:0001698
48 large sella turcica 31 HP:0002690
49 metaphyseal widening 31 HP:0003016
50 broad hallux 31 HP:0010055

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly

Abdomen External Features:
umbilical hernia

Cardiovascular Heart:
cardiomegaly
bicuspid aortic valve
congenital hypertrophy of left ventricle
pericardial effusions

Skin Nails Hair Skin:
lymphedema

Skeletal:
osteoporosis
delayed bone age

Skeletal Spine:
platyspondyly
ovoid-shaped vertebral bodies (childhood)
cuboid-shaped vertebral bodies (post-puberty)

Skin Nails Hair Hair:
congenital, generalized hypertrichosis
long, curly eyelashes

Skeletal Skull:
widened posterior fossa
enlarged sella

Head And Neck Mouth:
thick lips
gingival hypertrophy

Chest External Features:
narrow thorax

Growth Weight:
birthweight > 90th percentile

Head And Neck Neck:
short neck

Head And Neck Nose:
anteverted nares
flat, broad nasal bridge

Head And Neck Face:
prominent forehead
long philtrum
coarse facies

Muscle Soft Tissue:
lymphedema

Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Pelvis:
coxa valga
hypoplastic ishchiopubic rami
narrow obturator foramen

Skeletal Feet:
broad first metatarsal
short, broad first toe

Head And Neck Eyes:
epicanthal folds
long, curly eyelashes

Chest Ribs Sternum Clavicles And Scapulae:
narrow shoulders
widened ribs

Skeletal Limbs:
widened metaphyses
erlenmeyer flask femora
bands of growth arrest
enlarged medullary canal

Neurologic Central Nervous System:
mild mental retardation (some)

Clinical features from OMIM®:

239850 (Updated 05-Apr-2021)

Drugs & Therapeutics for Cantu Syndrome

Search Clinical Trials , NIH Clinical Center for Cantu Syndrome

Cochrane evidence based reviews: cantu syndrome

Genetic Tests for Cantu Syndrome

Genetic tests related to Cantu Syndrome:

# Genetic test Affiliating Genes
1 Hypertrichotic Osteochondrodysplasia Cantu Type 29 ABCC9

Anatomical Context for Cantu Syndrome

MalaCards organs/tissues related to Cantu Syndrome:

40
Heart, Bone, Brain, Smooth Muscle, Skin, Pituitary

Publications for Cantu Syndrome

Articles related to Cantu Syndrome:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. 61 25 57 6
16835932 2006
2
Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. 6 57 25
21344641 2011
3
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. 25 57 6
10398267 1999
4
Cantú syndrome is caused by mutations in ABCC9. 57 6
22608503 2012
5
Dominant missense mutations in ABCC9 cause Cantú syndrome. 6 57
22610116 2012
6
Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). 57 25
11050630 2000
7
A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity. 25 57
7076246 1982
8
De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder. 61 6
26871653 2016
9
A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome. 57 61
16278903 2005
10
Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil. 25 61
31907964 2020
11
Cantu syndrome and hypopituitarism: implications for endocrine monitoring. 61 25
31743099 2019
12
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 6
26938784 2016
13
Aortic aneurysm and craniosynostosis in a family with Cantu syndrome. 61 25
24352916 2014
14
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. 61 25
24176758 2013
15
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. 6
23307537 2013
16
Cantu syndrome and lymphoedema. 25 61
20890180 2011
17
Pulmonary hypertension secondary to partial pulmonary venous obstruction in a child with Cantu syndrome. 61 25
20575102 2010
18
Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations. 57
12210352 2002
19
Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantú syndrome): a new case with unusual radiological findings. 57
10817653 2000
20
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome. 57
9056550 1997
21
Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia. 57
8957508 1996
22
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. 25
32215968 2020
23
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry. 25
31828977 2019
24
ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9. 25
31575858 2019
25
Prevalence of Adverse Events in Children With Congenital Hyperinsulinism Treated With Diazoxide. 25
30247666 2018
26
Cantú syndrome with coexisting familial pituitary adenoma. 25
29327300 2018
27
Neurologic and neuroimaging manifestations of Cantú syndrome: A case series. 25
27316244 2016
28
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
29
A patient with Cantú syndrome associated with fatal bronchopulmonary dysplasia and pulmonary hypertension. 25
24715715 2014
30
Cantú syndrome resulting from activating mutation in the KCNJ8 gene. 25
24700710 2014
31
ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene. 25
24439875 2014
32
The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews. 25
23632791 2014
33
J wave syndromes. 25
20153265 2010
34
KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. 25
17245405 2007
35
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 25
15034580 2004
36
Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice. 61
33529173 2021
37
Generalized hypertrichosis syndromes in Mexico. 61
33283427 2020
38
Kir6.1- and SUR2-dependent KATP over-activity disrupts intestinal motility in murine models of Cantu Syndrome. 61
33170808 2020
39
Cantu syndrome: A longitudinal review of vascular findings in three individuals. 61
32065455 2020
40
Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity. 61
31821173 2020
41
The surprising complexity of KATP channel biology and of genetic diseases. 61
32065592 2020
42
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". 61
32864620 2020
43
Dilated and tortuous retinal vessels as a sign of Cantu syndrome. 61
31584310 2019
44
Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotype. 61
30921097 2019
45
Cardiovascular consequences of KATP overactivity in Cantu syndrome. 61
30089727 2018
46
Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms. 61
29275331 2018
47
Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel. 61
28842488 2017
48
Increased tolerance to stress in cardiac expressed gain-of-function of adenosine triphosphate-sensitive potassium channel subunit Kir6.1. 61
27884343 2016
49
K(ATP) channel gain-of-function leads to increased myocardial L-type Ca(2+) current and contractility in Cantu syndrome. 61
27247394 2016
50
Adenosine Triphosphate-Sensitive Potassium Currents in Heart Disease and Cardioprotection. 61
27261824 2016

Variations for Cantu Syndrome

ClinVar genetic disease variations for Cantu Syndrome:

6 (show top 50) (show all 81)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCC9 NM_005691.3(ABCC9):c.3128G>A (p.Cys1043Tyr) SNV Pathogenic 31948 rs387907210 GRCh37: 12:21997818-21997818
GRCh38: 12:21844884-21844884
2 ABCC9 NM_005691.3(ABCC9):c.1433C>T (p.Ala478Val) SNV Pathogenic 31949 rs387907211 GRCh37: 12:22061033-22061033
GRCh38: 12:21908099-21908099
3 ABCC9 NM_005691.3(ABCC9):c.3347G>A (p.Arg1116His) SNV Pathogenic 35533 rs387907227 GRCh37: 12:21995374-21995374
GRCh38: 12:21842440-21842440
4 ABCC9 NM_005691.3(ABCC9):c.3346C>T (p.Arg1116Cys) SNV Pathogenic 35534 rs387907228 GRCh37: 12:21995375-21995375
GRCh38: 12:21842441-21842441
5 ABCC9 NM_005691.3(ABCC9):c.3058T>C (p.Ser1020Pro) SNV Pathogenic 35535 rs387907229 GRCh37: 12:21998575-21998575
GRCh38: 12:21845641-21845641
6 ABCC9 NM_005691.3(ABCC9):c.178C>T (p.His60Tyr) SNV Pathogenic 35536 rs387907230 GRCh37: 12:22086822-22086822
GRCh38: 12:21933888-21933888
7 ABCC9 NM_005691.3(ABCC9):c.4572_4573insT (p.Val1525fs) Insertion Pathogenic 192108 rs761784169 GRCh37: 12:21958185-21958186
GRCh38: 12:21805251-21805252
8 ABCC9 NM_020297.3(ABCC9):c.3460C>T (p.Arg1154Trp) SNV Pathogenic 31946 rs387907208 GRCh37: 12:21995261-21995261
GRCh38: 12:21842327-21842327
9 ABCC9 NM_020297.3(ABCC9):c.3461G>A (p.Arg1154Gln) SNV Pathogenic 31947 rs387907209 GRCh37: 12:21995260-21995260
GRCh38: 12:21842326-21842326
10 ABCC9 NM_005691.3(ABCC9):c.878T>C (p.Phe293Ser) SNV Likely pathogenic 369679 rs1057516044 GRCh37: 12:22065939-22065939
GRCh38: 12:21913005-21913005
11 ABCC9 NM_020297.3(ABCC9):c.3650G>A (p.Arg1217Lys) SNV Likely pathogenic 545440 rs12298510 GRCh37: 12:21981911-21981911
GRCh38: 12:21828977-21828977
12 ABCC9 NM_005691.3(ABCC9):c.1703C>T (p.Pro568Leu) SNV Likely pathogenic 666318 rs1592166720 GRCh37: 12:22047065-22047065
GRCh38: 12:21894131-21894131
13 ABCC9 NM_005691.4(ABCC9):c.3190G>C (p.Ala1064Pro) SNV Likely pathogenic 973522 GRCh37: 12:21997756-21997756
GRCh38: 12:21844822-21844822
14 ABCC9 NM_005691.3(ABCC9):c.1557G>A (p.Glu519=) SNV Uncertain significance 45388 rs143346402 GRCh37: 12:22059121-22059121
GRCh38: 12:21906187-21906187
15 ABCC9 NM_005691.3(ABCC9):c.6C>T (p.Ser2=) SNV Uncertain significance 514309 rs765382139 GRCh37: 12:22089603-22089603
GRCh38: 12:21936669-21936669
16 ABCC9 NM_005691.3(ABCC9):c.133T>C (p.Leu45=) SNV Uncertain significance 512729 rs1555125400 GRCh37: 12:22089476-22089476
GRCh38: 12:21936542-21936542
17 ABCC9 NM_005691.3(ABCC9):c.3357G>A (p.Leu1119=) SNV Uncertain significance 510652 rs2287626 GRCh37: 12:21995364-21995364
GRCh38: 12:21842430-21842430
18 ABCC9 NM_005691.3(ABCC9):c.3339T>G (p.Ser1113=) SNV Uncertain significance 178001 rs138280089 GRCh37: 12:21995382-21995382
GRCh38: 12:21842448-21842448
19 ABCC9 NM_020297.3(ABCC9):c.2312C>T (p.Thr771Ile) SNV Uncertain significance 546527 rs180739851 GRCh37: 12:22015914-22015914
GRCh38: 12:21862980-21862980
20 ABCC9 NM_005691.3(ABCC9):c.3768T>C (p.Leu1256=) SNV Uncertain significance 35633 rs150303433 GRCh37: 12:21971087-21971087
GRCh38: 12:21818153-21818153
21 ABCC9 NM_005691.3(ABCC9):c.2050G>A (p.Gly684Ser) SNV Uncertain significance 45397 rs148174226 GRCh37: 12:22028630-22028630
GRCh38: 12:21875696-21875696
22 ABCC9 NM_005691.3(ABCC9):c.372T>C (p.Asn124=) SNV Uncertain significance 45410 rs377384557 GRCh37: 12:22078910-22078910
GRCh38: 12:21925976-21925976
23 ABCC9 NM_005691.3(ABCC9):c.1659+10T>C SNV Uncertain significance 308040 rs201753781 GRCh37: 12:22048199-22048199
GRCh38: 12:21895265-21895265
24 ABCC9 NM_005691.3(ABCC9):c.2199-6T>C SNV Uncertain significance 180001 rs535477725 GRCh37: 12:22017417-22017417
GRCh38: 12:21864483-21864483
25 ABCC9 NM_005691.3(ABCC9):c.2770-13A>G SNV Uncertain significance 162686 rs184123387 GRCh37: 12:22001193-22001193
GRCh38: 12:21848259-21848259
26 ABCC9 NM_005691.3(ABCC9):c.1012-7G>A SNV Uncertain significance 162692 rs727502874 GRCh37: 12:22063919-22063919
GRCh38: 12:21910985-21910985
27 ABCC9 NM_005691.3(ABCC9):c.2826T>C (p.Tyr942=) SNV Uncertain significance 201611 rs141025897 GRCh37: 12:22001124-22001124
GRCh38: 12:21848190-21848190
28 ABCC9 NM_005691.3(ABCC9):c.3589C>T (p.Arg1197Cys) SNV Uncertain significance 410818 rs778849288 GRCh37: 12:21981972-21981972
GRCh38: 12:21829038-21829038
29 ABCC9 NM_005691.3(ABCC9):c.2481T>C (p.Tyr827=) SNV Uncertain significance 880991 GRCh37: 12:22012544-22012544
GRCh38: 12:21859610-21859610
30 ABCC9 NM_005691.3(ABCC9):c.1374C>T (p.Val458=) SNV Uncertain significance 533291 rs200819464 GRCh37: 12:22061092-22061092
GRCh38: 12:21908158-21908158
31 ABCC9 NM_005691.3(ABCC9):c.3316-4A>C SNV Uncertain significance 240205 rs201147809 GRCh37: 12:21995409-21995409
GRCh38: 12:21842475-21842475
32 ABCC9 NM_005691.3(ABCC9):c.3141T>C (p.Ile1047=) SNV Uncertain significance 882574 GRCh37: 12:21997805-21997805
GRCh38: 12:21844871-21844871
33 ABCC9 NM_005691.3(ABCC9):c.2158G>A (p.Gly720Ser) SNV Uncertain significance 882623 GRCh37: 12:22025599-22025599
GRCh38: 12:21872665-21872665
34 ABCC9 NM_005691.3(ABCC9):c.1008T>C (p.Thr336=) SNV Uncertain significance 882669 GRCh37: 12:22065809-22065809
GRCh38: 12:21912875-21912875
35 ABCC9 NM_005691.3(ABCC9):c.882G>A (p.Gly294=) SNV Uncertain significance 882670 GRCh37: 12:22065935-22065935
GRCh38: 12:21913001-21913001
36 ABCC9 NM_005691.3(ABCC9):c.4519G>T (p.Val1507Phe) SNV Uncertain significance 883307 GRCh37: 12:21958239-21958239
GRCh38: 12:21805305-21805305
37 ABCC9 NM_005691.3(ABCC9):c.4103-14T>C SNV Uncertain significance 883308 GRCh37: 12:21965105-21965105
GRCh38: 12:21812171-21812171
38 ABCC9 NM_005691.3(ABCC9):c.1981C>T (p.Arg661Cys) SNV Uncertain significance 191589 rs199499109 GRCh37: 12:22035738-22035738
GRCh38: 12:21882804-21882804
39 ABCC9 NM_005691.3(ABCC9):c.1877T>C (p.Leu626Pro) SNV Uncertain significance 883399 GRCh37: 12:22040794-22040794
GRCh38: 12:21887860-21887860
40 ABCC9 NM_005691.3(ABCC9):c.1875G>A (p.Ser625=) SNV Uncertain significance 162690 rs727502873 GRCh37: 12:22040796-22040796
GRCh38: 12:21887862-21887862
41 ABCC9 NM_001377273.1(ABCC9):c.1247T>C (p.Leu416Ser) SNV Uncertain significance 973302 GRCh37: 12:22063164-22063164
GRCh38: 12:21910230-21910230
42 ABCC9 NM_005691.3(ABCC9):c.1887G>T (p.Glu629Asp) SNV Uncertain significance 45392 rs150036969 GRCh37: 12:22040784-22040784
GRCh38: 12:21887850-21887850
43 ABCC9 NM_005691.3(ABCC9):c.1670C>G (p.Thr557Ser) SNV Uncertain significance 308039 rs886049171 GRCh37: 12:22047098-22047098
GRCh38: 12:21894164-21894164
44 ABCC9 NM_005691.3(ABCC9):c.669G>T (p.Leu223=) SNV Uncertain significance 308045 rs17846788 GRCh37: 12:22068749-22068749
GRCh38: 12:21915815-21915815
45 ABCC9 NM_005691.3(ABCC9):c.2769+12T>C SNV Uncertain significance 308035 rs564071879 GRCh37: 12:22005019-22005019
GRCh38: 12:21852085-21852085
46 ABCC9 NM_005691.3(ABCC9):c.1332C>T (p.Gly444=) SNV Uncertain significance 308041 rs369830406 GRCh37: 12:22061134-22061134
GRCh38: 12:21908200-21908200
47 ABCC9 NM_005691.3(ABCC9):c.75T>C (p.Phe25=) SNV Uncertain significance 308049 rs201972673 GRCh37: 12:22089534-22089534
GRCh38: 12:21936600-21936600
48 ABCC9 NM_005691.3(ABCC9):c.466T>C (p.Cys156Arg) SNV Uncertain significance 308046 rs886049173 GRCh37: 12:22069978-22069978
GRCh38: 12:21917044-21917044
49 ABCC9 NM_005691.3(ABCC9):c.2238-16del Deletion Uncertain significance 308036 rs886049170 GRCh37: 12:22016004-22016004
GRCh38: 12:21863070-21863070
50 ABCC9 NM_005691.3(ABCC9):c.146G>C (p.Trp49Ser) SNV Uncertain significance 308048 rs886049175 GRCh37: 12:22086854-22086854
GRCh38: 12:21933920-21933920

UniProtKB/Swiss-Prot genetic disease variations for Cantu Syndrome:

72 (show all 13)
# Symbol AA change Variation ID SNP ID
1 ABCC9 p.His60Tyr VAR_068485 rs387907230
2 ABCC9 p.Asp207Glu VAR_068486
3 ABCC9 p.Gly380Cys VAR_068487 rs116520507
4 ABCC9 p.Pro432Leu VAR_068488
5 ABCC9 p.Ala478Val VAR_068489 rs387907211
6 ABCC9 p.Ser1020Pro VAR_068490 rs387907229
7 ABCC9 p.Phe1039Ser VAR_068491
8 ABCC9 p.Cys1043Tyr VAR_068492 rs387907210
9 ABCC9 p.Ser1054Tyr VAR_068493
10 ABCC9 p.Arg1116Cys VAR_068494 rs387907228
11 ABCC9 p.Arg1116His VAR_068495 rs387907227
12 ABCC9 p.Arg1154Gln VAR_068496 rs387907209
13 ABCC9 p.Arg1154Trp VAR_068497 rs387907208

Expression for Cantu Syndrome

Search GEO for disease gene expression data for Cantu Syndrome.

Pathways for Cantu Syndrome

GO Terms for Cantu Syndrome

Cellular components related to Cantu Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.33 KCNJ8 KCNJ11 ABCC8
2 potassium ion-transporting ATPase complex GO:0031004 9.13 KCNJ8 ABCC9 ABCC8
3 inward rectifying potassium channel GO:0008282 8.92 KCNJ8 KCNJ11 ABCC9 ABCC8

Biological processes related to Cantu Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 potassium ion transport GO:0006813 9.46 KCNJ8 KCNJ11 ABCC9 ABCC8
2 potassium ion import across plasma membrane GO:1990573 9.43 KCNJ8 KCNJ11 ABCC9
3 negative regulation of insulin secretion GO:0046676 9.37 KCNJ11 ABCC8
4 response to ATP GO:0033198 9.32 KCNJ11 ABCC9
5 potassium ion transmembrane transport GO:0071805 9.26 KCNJ8 KCNJ11 ABCC9 ABCC8
6 inorganic cation transmembrane transport GO:0098662 8.92 KCNJ8 KCNJ11 ABCC9 ABCC8

Molecular functions related to Cantu Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.5 KCNJ11 ABCC9 ABCC8
2 inward rectifier potassium channel activity GO:0005242 9.26 KCNJ8 KCNJ11
3 cation-transporting ATPase activity GO:0019829 9.26 KCNJ8 KCNJ11 ABCC9 ABCC8
4 sulfonylurea receptor activity GO:0008281 9.16 ABCC9 ABCC8
5 ATP-activated inward rectifier potassium channel activity GO:0015272 8.92 KCNJ8 KCNJ11 ABCC9 ABCC8

Sources for Cantu Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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