HTOCD
MCID: CNT056
MIFTS: 48

Cantu Syndrome (HTOCD)

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

Aliases & Classifications for Cantu Syndrome

MalaCards integrated aliases for Cantu Syndrome:

Name: Cantu Syndrome 56 12 52 25 73 43 71
Hypertrichotic Osteochondrodysplasia 56 52 25 73 13
Hypertrichotic Osteochondrodysplasia Cantu Type 12 29 6 15
Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome 25
Hypertrichotic Osteochondrodysplasia, Cantu Type 58
Osteochondrodysplasia, Hypertrichotic 39
Craniofaciocardioskeletal Syndrome 52
Cantú Syndrome 25
Htocd 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cantu syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Cantu Syndrome

Genetics Home Reference : 25 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 cantú syndrome and related disorders and hypertrichosis. 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 bone, heart and skin, 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.

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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 : 74 Cantú syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and... more...

Related Diseases for Cantu Syndrome

Diseases in the Cantu Syndrome family:

Cantú Syndrome and Related Disorders

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

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 cantú syndrome and related disorders 31.3 KCNJ8 ABCC9
2 hypertrichosis 31.1 KCNJ8 KCNJ11 ABCC9
3 hair defect-photosensitivity-intellectual disability syndrome 11.9
4 acromegaloid facial appearance syndrome 11.4
5 cutis laxa, autosomal dominant 1 11.2
6 autosomal recessive cutis laxa type i 11.2
7 munchausen by proxy 10.4 KCNJ11 ABCC8
8 maturity-onset diabetes of the young, type 1 10.4 KCNJ11 ABCC8
9 maturity-onset diabetes of the young, type 11 10.4 KCNJ11 ABCC8
10 acute insulin response 10.4 KCNJ11 ABCC8
11 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.4 KCNJ11 ABCC8
12 maturity-onset diabetes of the young, type 13 10.4 KCNJ11 ABCC8
13 maturity-onset diabetes of the young, type 10 10.4 KCNJ11 ABCC8
14 patent ductus arteriosus 1 10.4
15 hyperinsulinemic hypoglycemia, familial, 7 10.4 KCNJ11 ABCC8
16 autosomal dominant non-syndromic intellectual disability 6 10.4 MANSC1 FAM234B
17 maturity-onset diabetes of the young, type 7 10.4 KCNJ11 ABCC8
18 maturity-onset diabetes of the young, type 9 10.3 KCNJ11 ABCC8
19 maturity-onset diabetes of the young, type 6 10.3 KCNJ11 ABCC8
20 asphyxia neonatorum 10.3 KCNJ11 ABCC8
21 maturity-onset diabetes of the young, type 4 10.3 KCNJ11 ABCC8
22 diabetes mellitus, permanent neonatal 4 10.3 KCNJ11 ABCC8
23 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.3 KCNJ11 ABCC8
24 maturity-onset diabetes of the young, type 3 10.3 MIA2 KCNJ11 ABCC8
25 polyhydramnios 10.3
26 maturity-onset diabetes of the young, type 2 10.2 KCNJ11 ABCC8
27 neonatal diabetes mellitus 10.2 KCNJ8 KCNJ11 ABCC8
28 arteriolosclerosis 10.2 TMEM106B ABCC9
29 odontochondrodysplasia 10.2
30 aortic aneurysm 10.2
31 hyperinsulinemic hypoglycemia, familial, 1 10.2 KCNJ11 ABCC8
32 migraine with or without aura 1 10.2
33 renal cysts and diabetes syndrome 10.1 KCNJ11 ABCC8
34 cardiomyopathy, dilated, 1o 10.1 KCNJ8 KCNJ11 ABCC9 ABCC8
35 familial atrial fibrillation 10.1 KCNJ8 KCNJ11 ABCC9
36 monogenic diabetes 10.1 KCNJ11 ABCC8
37 heterochromia iridis 10.0
38 hypercholesterolemia, familial, 1 10.0
39 aortic aneurysm, familial thoracic 1 10.0
40 chromosome 1p36 deletion syndrome 10.0
41 pulmonary hypertension 10.0
42 autosomal recessive disease 10.0
43 atrioventricular block 10.0
44 non-alcoholic steatohepatitis 10.0
45 arteriovenous malformation 10.0
46 hemopericardium 10.0
47 pericardial effusion 10.0
48 craniosynostosis 10.0
49 pituitary gland disease 10.0
50 hypopituitarism 10.0

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 skeletal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002652
15 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
16 prominent supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0000336
17 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
18 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
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 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
36 abnormal heart valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001654
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:

56
Head And Neck Neck:
short neck

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 Head:
macrocephaly

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

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
Bone, Heart, Skin, Eye, Lung, Brain, Smooth Muscle

Publications for Cantu Syndrome

Articles related to Cantu Syndrome:

(show all 40)
# 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 6 56
16835932 2006
2
Cantú syndrome is caused by mutations in ABCC9. 56 6
22608503 2012
3
Dominant missense mutations in ABCC9 cause Cantú syndrome. 56 6
22610116 2012
4
Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. 56 6
21344641 2011
5
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. 56 6
10398267 1999
6
A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome. 56 61
16278903 2005
7
Cantú Syndrome and Related Disorders 6
25275207 2014
8
Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations. 56
12210352 2002
9
Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). 56
11050630 2000
10
Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantú syndrome): a new case with unusual radiological findings. 56
10817653 2000
11
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome. 56
9056550 1997
12
Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia. 56
8957508 1996
13
A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity. 56
7076246 1982
14
Cantu syndrome: A longitudinal review of vascular findings in three individuals. 61
32065455 2020
15
Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil. 61
31907964 2020
16
The surprising complexity of KATP channel biology and of genetic diseases. 61
32065592 2020
17
Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity. 61
31821173 2020
18
Cantu syndrome and hypopituitarism: implications for endocrine monitoring. 61
31743099 2019
19
Dilated and tortuous retinal vessels as a sign of Cantu syndrome. 61
31584310 2019
20
Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotype. 61
30921097 2019
21
Cardiovascular consequences of KATP overactivity in Cantu syndrome. 61
30089727 2018
22
Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms. 61
29275331 2018
23
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
24
Increased tolerance to stress in cardiac expressed gain-of-function of adenosine triphosphate-sensitive potassium channel subunit Kir6.1. 61
27884343 2016
25
K(ATP) channel gain-of-function leads to increased myocardial L-type Ca(2+) current and contractility in Cantu syndrome. 61
27247394 2016
26
Adenosine Triphosphate-Sensitive Potassium Currents in Heart Disease and Cardioprotection. 61
27261824 2016
27
The shifting landscape of KATP channelopathies and the need for 'sharper' therapeutics. 61
27161588 2016
28
De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder. 61
26871653 2016
29
Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome. 61
26142302 2015
30
ABCC9/SUR2 in the brain: Implications for hippocampal sclerosis of aging and a potential therapeutic target. 61
26226329 2015
31
Modeling Clinical States and Metabolic Rhythms in Bioarcheology. 61
26346040 2015
32
Aortic aneurysm and craniosynostosis in a family with Cantu syndrome. 61
24352916 2014
33
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
24176758 2013
34
Hypotension due to Kir6.1 gain-of-function in vascular smooth muscle. 61
23974906 2013
35
KATP channels and cardiovascular disease: suddenly a syndrome. 61
23538276 2013
36
Cantu syndrome and lymphoedema. 61
20890180 2011
37
Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome. 61
22310962 2011
38
Pulmonary hypertension secondary to partial pulmonary venous obstruction in a child with Cantu syndrome. 61
20575102 2010
39
Cantu syndrome. 61
15735970 2005
40
Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome. 61
9571276 1998

Variations for Cantu Syndrome

ClinVar genetic disease variations for Cantu Syndrome:

6 (show top 50) (show all 79) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCC9 NM_005691.3(ABCC9):c.3460C>T (p.Arg1154Trp)SNV Pathogenic 31946 rs387907208 12:21995261-21995261 12:21842327-21842327
2 ABCC9 NM_005691.3(ABCC9):c.3461G>A (p.Arg1154Gln)SNV Pathogenic 31947 rs387907209 12:21995260-21995260 12:21842326-21842326
3 ABCC9 NM_005691.3(ABCC9):c.3128G>A (p.Cys1043Tyr)SNV Pathogenic 31948 rs387907210 12:21997818-21997818 12:21844884-21844884
4 ABCC9 NM_005691.3(ABCC9):c.1433C>T (p.Ala478Val)SNV Pathogenic 31949 rs387907211 12:22061033-22061033 12:21908099-21908099
5 ABCC9 NM_005691.3(ABCC9):c.3347G>A (p.Arg1116His)SNV Pathogenic 35533 rs387907227 12:21995374-21995374 12:21842440-21842440
6 ABCC9 NM_005691.3(ABCC9):c.3346C>T (p.Arg1116Cys)SNV Pathogenic 35534 rs387907228 12:21995375-21995375 12:21842441-21842441
7 ABCC9 NM_005691.3(ABCC9):c.3058T>C (p.Ser1020Pro)SNV Pathogenic 35535 rs387907229 12:21998575-21998575 12:21845641-21845641
8 ABCC9 NM_005691.3(ABCC9):c.178C>T (p.His60Tyr)SNV Pathogenic 35536 rs387907230 12:22086822-22086822 12:21933888-21933888
9 ABCC9 NM_005691.3(ABCC9):c.1703C>T (p.Pro568Leu)SNV Likely pathogenic 666318 12:22047065-22047065 12:21894131-21894131
10 ABCC9 NM_005691.3(ABCC9):c.3650G>A (p.Arg1217Lys)SNV Likely pathogenic 545440 rs12298510 12:21981911-21981911 12:21828977-21828977
11 ABCC9 NM_005691.3(ABCC9):c.878T>C (p.Phe293Ser)SNV Likely pathogenic 369679 rs1057516044 12:22065939-22065939 12:21913005-21913005
12 ABCC9 NM_005691.3(ABCC9):c.4572_4573insT (p.Val1525fs)insertion Conflicting interpretations of pathogenicity 192108 rs761784169 12:21958185-21958186 12:21805251-21805252
13 ABCC9 NM_020297.3(ABCC9):c.2523C>T (p.Ala841=)SNV Conflicting interpretations of pathogenicity 35628 rs144537241 12:22005422-22005422 12:21852488-21852488
14 ABCC9 NM_005691.3(ABCC9):c.3589C>T (p.Arg1197Cys)SNV Conflicting interpretations of pathogenicity 410818 rs778849288 12:21981972-21981972 12:21829038-21829038
15 ABCC9 NM_005691.3(ABCC9):c.3357G>A (p.Leu1119=)SNV Conflicting interpretations of pathogenicity 510652 rs2287626 12:21995364-21995364 12:21842430-21842430
16 ABCC9 NM_005691.3(ABCC9):c.133T>C (p.Leu45=)SNV Conflicting interpretations of pathogenicity 512729 rs1555125400 12:22089476-22089476 12:21936542-21936542
17 ABCC9 NM_005691.3(ABCC9):c.6C>T (p.Ser2=)SNV Conflicting interpretations of pathogenicity 514309 rs765382139 12:22089603-22089603 12:21936669-21936669
18 ABCC9 NM_005691.3(ABCC9):c.2644-11G>ASNV Conflicting interpretations of pathogenicity 35631 rs61926078 12:22005167-22005167 12:21852233-21852233
19 ABCC9 NM_020297.3(ABCC9):c.3768T>C (p.Leu1256=)SNV Conflicting interpretations of pathogenicity 35633 rs150303433 12:21971087-21971087 12:21818153-21818153
20 ABCC9 NM_005691.3(ABCC9):c.1165-19dupduplication Conflicting interpretations of pathogenicity 45385 rs35857705 12:22063251-22063252 12:21910317-21910318
21 ABCC9 NM_020297.3(ABCC9):c.1557G>A (p.Glu519=)SNV Conflicting interpretations of pathogenicity 45388 rs143346402 12:22059121-22059121 12:21906187-21906187
22 ABCC9 NM_005691.3(ABCC9):c.-11T>CSNV Conflicting interpretations of pathogenicity 35625 rs72559432 12:22089619-22089619 12:21936685-21936685
23 ABCC9 NM_020297.3(ABCC9):c.1887G>T (p.Glu629Asp)SNV Conflicting interpretations of pathogenicity 45392 rs150036969 12:22040784-22040784 12:21887850-21887850
24 ABCC9 NM_020297.3(ABCC9):c.2050G>A (p.Gly684Ser)SNV Conflicting interpretations of pathogenicity 45397 rs148174226 12:22028630-22028630 12:21875696-21875696
25 ABCC9 NM_005691.3(ABCC9):c.2093-7T>CSNV Conflicting interpretations of pathogenicity 45399 rs185235724 12:22025671-22025671 12:21872737-21872737
26 ABCC9 NM_005691.3(ABCC9):c.1374C>T (p.Val458=)SNV Conflicting interpretations of pathogenicity 533291 rs200819464 12:22061092-22061092 12:21908158-21908158
27 ABCC9 NM_020297.3(ABCC9):c.2262T>C (p.Tyr754=)SNV Conflicting interpretations of pathogenicity 45403 rs145561881 12:22015964-22015964 12:21863030-21863030
28 ABCC9 NM_020297.3(ABCC9):c.2862C>T (p.Asp954=)SNV Conflicting interpretations of pathogenicity 45407 rs2291550 12:22001088-22001088 12:21848154-21848154
29 ABCC9 NM_020297.3(ABCC9):c.372T>C (p.Asn124=)SNV Conflicting interpretations of pathogenicity 45410 rs377384557 12:22078910-22078910 12:21925976-21925976
30 ABCC9 NM_005691.3(ABCC9):c.407-14C>ASNV Conflicting interpretations of pathogenicity 45412 rs201279882 12:22070051-22070051 12:21917117-21917117
31 ABCC9 NM_020297.3(ABCC9):c.3339T>G (p.Ser1113=)SNV Conflicting interpretations of pathogenicity 178001 rs138280089 12:21995382-21995382 12:21842448-21842448
32 ABCC9 NM_005691.3(ABCC9):c.2770-13A>GSNV Conflicting interpretations of pathogenicity 162686 rs184123387 12:22001193-22001193 12:21848259-21848259
33 ABCC9 NM_005691.3(ABCC9):c.1875G>A (p.Ser625=)SNV Conflicting interpretations of pathogenicity 162690 rs727502873 12:22040796-22040796 12:21887862-21887862
34 ABCC9 NM_005691.3(ABCC9):c.2199-6T>CSNV Conflicting interpretations of pathogenicity 180001 rs535477725 12:22017417-22017417 12:21864483-21864483
35 ABCC9 NM_005691.3(ABCC9):c.2826T>C (p.Tyr942=)SNV Conflicting interpretations of pathogenicity 201611 rs141025897 12:22001124-22001124 12:21848190-21848190
36 ABCC9 NM_005691.3(ABCC9):c.3316-4A>CSNV Conflicting interpretations of pathogenicity 240205 rs201147809 12:21995409-21995409 12:21842475-21842475
37 ABCC9 NM_005691.3(ABCC9):c.1332C>T (p.Gly444=)SNV Conflicting interpretations of pathogenicity 308041 rs369830406 12:22061134-22061134 12:21908200-21908200
38 ABCC9 NM_005691.3(ABCC9):c.1659+10T>CSNV Conflicting interpretations of pathogenicity 308040 rs201753781 12:22048199-22048199 12:21895265-21895265
39 ABCC9 NM_005691.3(ABCC9):c.1165-7_1165-6deldeletion Conflicting interpretations of pathogenicity 308043 rs35857705 12:22063252-22063253 12:21910318-21910319
40 ABCC9 NM_005691.3(ABCC9):c.669G>T (p.Leu223=)SNV Uncertain significance 308045 rs17846788 12:22068749-22068749 12:21915815-21915815
41 ABCC9 NM_005691.3(ABCC9):c.146G>C (p.Trp49Ser)SNV Uncertain significance 308048 rs886049175 12:22086854-22086854 12:21933920-21933920
42 ABCC9 NM_005691.3(ABCC9):c.3669+10T>CSNV Uncertain significance 308033 rs199640712 12:21981882-21981882 12:21828948-21828948
43 ABCC9 NM_005691.3(ABCC9):c.466T>C (p.Cys156Arg)SNV Uncertain significance 308046 rs886049173 12:22069978-22069978 12:21917044-21917044
44 ABCC9 NM_005691.3(ABCC9):c.1165-4deldeletion Uncertain significance 308042 rs886049172 12:22063250-22063250 12:21910316-21910316
45 ABCC9 NM_005691.3(ABCC9):c.842G>A (p.Arg281Gln)SNV Uncertain significance 308044 rs753456211 12:22065975-22065975 12:21913041-21913041
46 ABCC9 NM_005691.3(ABCC9):c.366T>C (p.Tyr122=)SNV Uncertain significance 308047 rs886049174 12:22078916-22078916 12:21925982-21925982
47 ABCC9 NM_005691.3(ABCC9):c.75T>C (p.Phe25=)SNV Uncertain significance 308049 rs201972673 12:22089534-22089534 12:21936600-21936600
48 ABCC9 NM_005691.3(ABCC9):c.4316-14T>GSNV Uncertain significance 308032 rs886049168 12:21960427-21960427 12:21807493-21807493
49 ABCC9 NM_005691.3(ABCC9):c.2769+12T>CSNV Uncertain significance 308035 rs564071879 12:22005019-22005019 12:21852085-21852085
50 ABCC9 NM_005691.3(ABCC9):c.2238-16deldeletion Uncertain significance 308036 rs886049170 12:22016004-22016004 12:21863070-21863070

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

73 (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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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