HTOCD
MCID: CNT056
MIFTS: 51

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 29 13 6
Hypertrichotic Osteochondrodysplasia Cantu Type 12 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 Transmission across Chemical Synapses and Dopamine-DARPP32 Feedback onto cAMP Pathway. 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 Cantu 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 78)
# Related Disease Score Top Affiliating Genes
1 cantú syndrome and related disorders 31.2 KCNJ8 ABCC9
2 hypertrichosis 30.7 KCNJ8 KCNJ11 ABCC9 ABCC8
3 brugada syndrome 30.0 KCNJ8 KCNJ11 CACNA1C ABCC9
4 obsolete: hypertrichotic osteochondrodysplasia 12.5
5 hair defect-photosensitivity-intellectual disability syndrome 11.9
6 acromegaloid facial appearance syndrome 11.5
7 cutis laxa, autosomal dominant 1 11.2
8 autosomal recessive cutis laxa type i 11.2
9 hair defect with photosensitivity and mental retardation 11.2
10 munchausen by proxy 10.4 KCNJ11 ABCC8
11 maturity-onset diabetes of the young, type 1 10.4 KCNJ11 ABCC8
12 maturity-onset diabetes of the young, type 11 10.4 KCNJ11 ABCC8
13 patent ductus arteriosus 1 10.4
14 maturity-onset diabetes of the young, type 13 10.4 KCNJ11 ABCC8
15 acute insulin response 10.4 KCNJ11 ABCC8
16 maturity-onset diabetes of the young, type 10 10.4 KCNJ11 ABCC8
17 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.3 KCNJ11 ABCC8
18 maturity-onset diabetes of the young, type 7 10.3 KCNJ11 ABCC8
19 maturity-onset diabetes of the young, type 9 10.3 KCNJ11 ABCC8
20 hyperinsulinemic hypoglycemia, familial, 7 10.3 KCNJ11 ABCC8
21 maturity-onset diabetes of the young, type 6 10.3 KCNJ11 ABCC8
22 asphyxia neonatorum 10.3 KCNJ11 ABCC8
23 maturity-onset diabetes of the young, type 4 10.3 KCNJ11 ABCC8
24 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.3 KCNJ11 ABCC8
25 arteriolosclerosis 10.3 TMEM106B ABCC9
26 maturity-onset diabetes of the young, type 2 10.3 KCNJ11 ABCC8
27 polyhydramnios 10.3
28 renal cysts and diabetes syndrome 10.2 KCNJ11 ABCC8
29 maturity-onset diabetes of the young, type 3 10.2 KCNJ11 ABCC8
30 diabetes mellitus, permanent neonatal 10.2 KCNJ8 KCNJ11 ABCC8
31 odontochondrodysplasia 10.2
32 neonatal diabetes mellitus 10.2 KCNJ8 KCNJ11 ABCC8
33 monogenic diabetes 10.2 KCNJ11 ABCC8
34 familial periodic paralysis 10.2 KCNJ11 CACNA1C
35 migraine with or without aura 1 10.2
36 diabetes mellitus, ketosis-prone 10.1 KCNJ11 ABCC8
37 hypokalemic periodic paralysis, type 1 10.1 KCNJ8 KCNJ11 CACNA1C
38 rare diabetes mellitus type 2 10.1 KCNJ11 ABCC8
39 long qt syndrome 1 10.1 KCNJ8 KCNJ11 CACNA1C
40 heterochromia iridis 10.0
41 hypercholesterolemia, familial, 1 10.0
42 chromosome 1p36 deletion syndrome 10.0
43 pulmonary hypertension 10.0
44 autosomal recessive disease 10.0
45 atrioventricular block 10.0
46 non-alcoholic steatohepatitis 10.0
47 hemopericardium 10.0
48 pericardial effusion 10.0
49 craniosynostosis 10.0
50 aortic aneurysm 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 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
6 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
7 coxa valga 58 31 hallmark (90%) Very frequent (99-80%) HP:0002673
8 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
9 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
10 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
11 low anterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0000294
12 curly eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0007665
13 long eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000527
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 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
25 broad ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000885
26 ovoid vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003300
27 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
28 platyspondyly 58 31 frequent (33%) Frequent (79-30%) HP:0000926
29 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
30 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
31 short hallux 58 31 frequent (33%) Frequent (79-30%) HP:0010109
32 cuboid-shaped vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0004634
33 short distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009882
34 deep plantar creases 58 31 frequent (33%) Frequent (79-30%) HP:0001869
35 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
36 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
37 abnormal heart valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001654
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 thick upper lip vermilion 31 HP:0000215
46 large for gestational age 31 HP:0001520
47 pericardial effusion 31 HP:0001698
48 broad hallux 31 HP:0010055
49 broad first metatarsal 31 HP:0010068
50 metaphyseal widening 31 HP:0003016

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly

Abdomen External Features:
umbilical hernia

Skeletal:
osteoporosis
delayed bone age

Head And Neck Face:
prominent forehead
long philtrum
coarse facies

Cardiovascular Vascular:
patent ductus arteriosus

Skin Nails Hair Skin:
lymphedema

Skeletal Feet:
broad first metatarsal
short, broad first toe

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

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

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

Skeletal Pelvis:
coxa valga
hypoplastic ishchiopubic rami
narrow obturator foramen

Muscle Soft Tissue:
lymphedema

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

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

MGI Mouse Phenotypes related to Cantu Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 ABCC8 ABCC9 CACNA1C FABP2 KCNH3 KCNJ11
2 muscle MP:0005369 9.1 ABCC9 CACNA1C KCNJ11 KCNJ8 MYOZ2 OXCT1

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 29 ABCC9

Anatomical Context for Cantu Syndrome

MalaCards organs/tissues related to Cantu Syndrome:

40
Bone, Heart, Skin, Eye, Lung, Pituitary, Brain

Publications for Cantu Syndrome

Articles related to Cantu Syndrome:

(show all 38)
# 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 56 6
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. 61 56
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
Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil. 61
31907964 2020
15
Glibenclamide reverses cardiovascular abnormalities of Cantu Syndrome driven by KATP channel overactivity. 61
31821173 2019
16
Cantu syndrome and hypopituitarism: implications for endocrine monitoring. 61
31743099 2019
17
Dilated and tortuous retinal vessels as a sign of Cantu syndrome. 61
31584310 2019
18
Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotype. 61
30921097 2019
19
Cardiovascular consequences of KATP overactivity in Cantu syndrome. 61
30089727 2018
20
Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms. 61
29275331 2018
21
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
22
Increased tolerance to stress in cardiac expressed gain-of-function of adenosine triphosphate-sensitive potassium channel subunit Kir6.1. 61
27884343 2016
23
Adenosine Triphosphate-Sensitive Potassium Currents in Heart Disease and Cardioprotection. 61
27261824 2016
24
K(ATP) channel gain-of-function leads to increased myocardial L-type Ca(2+) current and contractility in Cantu syndrome. 61
27247394 2016
25
The shifting landscape of KATP channelopathies and the need for 'sharper' therapeutics. 61
27161588 2016
26
De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder. 61
26871653 2016
27
Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome. 61
26142302 2015
28
ABCC9/SUR2 in the brain: Implications for hippocampal sclerosis of aging and a potential therapeutic target. 61
26226329 2015
29
Modeling Clinical States and Metabolic Rhythms in Bioarcheology. 61
26346040 2015
30
Aortic aneurysm and craniosynostosis in a family with Cantu syndrome. 61
24352916 2014
31
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
32
Hypotension due to Kir6.1 gain-of-function in vascular smooth muscle. 61
23974906 2013
33
KATP channels and cardiovascular disease: suddenly a syndrome. 61
23538276 2013
34
Cantu syndrome and lymphoedema. 61
20890180 2011
35
Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome. 61
22310962 2011
36
Pulmonary hypertension secondary to partial pulmonary venous obstruction in a child with Cantu syndrome. 61
20575102 2010
37
Cantu syndrome. 61
15735970 2005
38
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 51) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCC9 NM_005691.3(ABCC9):c.1433C>T (p.Ala478Val)SNV Pathogenic 31949 rs387907211 12:22061033-22061033 12:21908099-21908099
2 ABCC9 NM_005691.3(ABCC9):c.3460C>T (p.Arg1154Trp)SNV Pathogenic 31946 rs387907208 12:21995261-21995261 12:21842327-21842327
3 ABCC9 NM_005691.3(ABCC9):c.3461G>A (p.Arg1154Gln)SNV Pathogenic 31947 rs387907209 12:21995260-21995260 12:21842326-21842326
4 ABCC9 NM_005691.3(ABCC9):c.3128G>A (p.Cys1043Tyr)SNV Pathogenic 31948 rs387907210 12:21997818-21997818 12:21844884-21844884
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.3058T>C (p.Ser1020Pro)SNV Pathogenic 35535 rs387907229 12:21998575-21998575 12:21845641-21845641
7 ABCC9 NM_005691.3(ABCC9):c.178C>T (p.His60Tyr)SNV Pathogenic 35536 rs387907230 12:22086822-22086822 12:21933888-21933888
8 ABCC9 NM_005691.3(ABCC9):c.3346C>T (p.Arg1116Cys)SNV Likely pathogenic 35534 rs387907228 12:21995375-21995375 12:21842441-21842441
9 ABCC9 NM_005691.3(ABCC9):c.878T>C (p.Phe293Ser)SNV Likely pathogenic 369679 rs1057516044 12:22065939-22065939 12:21913005-21913005
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.1703C>T (p.Pro568Leu)SNV Likely pathogenic 666318 12:22047065-22047065 12:21894131-21894131
12 ABCC9 NM_005691.3(ABCC9):c.1659+10T>CSNV Conflicting interpretations of pathogenicity 308040 rs201753781 12:22048199-22048199 12:21895265-21895265
13 ABCC9 NM_005691.3(ABCC9):c.1165-7_1165-6deldeletion Conflicting interpretations of pathogenicity 308043 rs35857705 12:22063252-22063253 12:21910318-21910319
14 ABCC9 NM_005691.3(ABCC9):c.2770-13A>GSNV Conflicting interpretations of pathogenicity 162686 rs184123387 12:22001193-22001193 12:21848259-21848259
15 ABCC9 NM_005691.3(ABCC9):c.2199-6T>CSNV Conflicting interpretations of pathogenicity 180001 rs535477725 12:22017417-22017417 12:21864483-21864483
16 ABCC9 NM_005691.3(ABCC9):c.4572_4573insT (p.Val1525fs)insertion Conflicting interpretations of pathogenicity 192108 rs761784169 12:21958185-21958186 12:21805251-21805252
17 ABCC9 NM_005691.3(ABCC9):c.2826T>C (p.Tyr942=)SNV Conflicting interpretations of pathogenicity 201611 rs141025897 12:22001124-22001124 12:21848190-21848190
18 ABCC9 NM_005691.3(ABCC9):c.-11T>CSNV Conflicting interpretations of pathogenicity 35625 rs72559432 12:22089619-22089619 12:21936685-21936685
19 ABCC9 NM_005691.3(ABCC9):c.2644-11G>ASNV Conflicting interpretations of pathogenicity 35631 rs61926078 12:22005167-22005167 12:21852233-21852233
20 ABCC9 NM_005691.3(ABCC9):c.1165-19dupduplication Conflicting interpretations of pathogenicity 45385 rs35857705 12:22063251-22063252 12:21910317-21910318
21 ABCC9 NM_005691.3(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.2862C>T (p.Asp954=)SNV Conflicting interpretations of pathogenicity 45407 rs2291550 12:22001088-22001088 12:21848154-21848154
23 ABCC9 NM_005691.3(ABCC9):c.372T>C (p.Asn124=)SNV Conflicting interpretations of pathogenicity 45410 rs377384557 12:22078910-22078910 12:21925976-21925976
24 ABCC9 NM_005691.3(ABCC9):c.407-14C>ASNV Conflicting interpretations of pathogenicity 45412 rs201279882 12:22070051-22070051 12:21917117-21917117
25 ABCC9 NM_005691.3(ABCC9):c.1332C>T (p.Gly444=)SNV Conflicting interpretations of pathogenicity 308041 rs369830406 12:22061134-22061134 12:21908200-21908200
26 ABCC9 NM_005691.3(ABCC9):c.1165-4deldeletion Uncertain significance 308042 rs886049172 12:22063250-22063250 12:21910316-21910316
27 ABCC9 NM_005691.3(ABCC9):c.842G>A (p.Arg281Gln)SNV Uncertain significance 308044 rs753456211 12:22065975-22065975 12:21913041-21913041
28 ABCC9 NM_005691.3(ABCC9):c.366T>C (p.Tyr122=)SNV Uncertain significance 308047 rs886049174 12:22078916-22078916 12:21925982-21925982
29 ABCC9 NM_005691.3(ABCC9):c.75T>C (p.Phe25=)SNV Uncertain significance 308049 rs201972673 12:22089534-22089534 12:21936600-21936600
30 ABCC9 NM_005691.3(ABCC9):c.4316-14T>GSNV Uncertain significance 308032 rs886049168 12:21960427-21960427 12:21807493-21807493
31 ABCC9 NM_005691.3(ABCC9):c.2769+12T>CSNV Uncertain significance 308035 rs564071879 12:22005019-22005019 12:21852085-21852085
32 ABCC9 NM_005691.3(ABCC9):c.2238-16deldeletion Uncertain significance 308036 rs886049170 12:22016004-22016004 12:21863070-21863070
33 ABCC9 NM_005691.3(ABCC9):c.1992C>T (p.Pro664=)SNV Uncertain significance 308038 rs780071007 12:22035727-22035727 12:21882793-21882793
34 ABCC9 NM_005691.3(ABCC9):c.1670C>G (p.Thr557Ser)SNV Uncertain significance 308039 rs886049171 12:22047098-22047098 12:21894164-21894164
35 ABCC9 NM_005691.3(ABCC9):c.3556C>T (p.Arg1186Trp)SNV Uncertain significance 308034 rs886049169 12:21991022-21991022 12:21838088-21838088
36 ABCC9 NM_005691.3(ABCC9):c.1012-7G>ASNV Uncertain significance 162692 rs727502874 12:22063919-22063919 12:21910985-21910985
37 ABCC9 NM_005691.3(ABCC9):c.669G>T (p.Leu223=)SNV Uncertain significance 308045 rs17846788 12:22068749-22068749 12:21915815-21915815
38 ABCC9 NM_005691.3(ABCC9):c.146G>C (p.Trp49Ser)SNV Uncertain significance 308048 rs886049175 12:22086854-22086854 12:21933920-21933920
39 ABCC9 NM_005691.3(ABCC9):c.3669+10T>CSNV Uncertain significance 308033 rs199640712 12:21981882-21981882 12:21828948-21828948
40 ABCC9 NM_005691.3(ABCC9):c.466T>C (p.Cys156Arg)SNV Uncertain significance 308046 rs886049173 12:22069978-22069978 12:21917044-21917044
41 ABCC9 NM_005691.3(ABCC9):c.2312C>T (p.Thr771Ile)SNV Uncertain significance 546527 rs180739851 12:22015914-22015914 12:21862980-21862980
42 ABCC9 NM_005691.3(ABCC9):c.1296= (p.Pro432=)SNV Benign/Likely benign 45386 rs10770865 12:22063115-22063115 12:21910181-21910181
43 ABCC9 NM_005691.3(ABCC9):c.1164+11=SNV Benign/Likely benign 45384 rs4762720 12:22063749-22063749 12:21910815-21910815
44 ABCC9 NM_005691.3(ABCC9):c.1165-6deldeletion Benign/Likely benign 35626 rs35857705 12:22063252-22063252 12:21910318-21910318
45 ABCC9 NM_005691.3(ABCC9):c.2631G>A (p.Thr877=)SNV Benign/Likely benign 35630 rs139408145 12:22005314-22005314 12:21852380-21852380
46 ABCC9 NM_005691.3(ABCC9):c.2238-17deldeletion Benign/Likely benign 308037 rs4148670 12:22016005-22016005 12:21863071-21863071
47 ABCC9 NM_005691.3(ABCC9):c.574-5C>ASNV Benign/Likely benign 45419 rs3759236 12:22068849-22068849 12:21915915-21915915
48 ABCC9 NM_005691.3(ABCC9):c.1848C>T (p.Asp616=)SNV Benign/Likely benign 45391 rs61001398 12:22040823-22040823 12:21887889-21887889
49 ABCC9 NM_005691.3(ABCC9):c.2093-7T>CSNV Benign/Likely benign 45399 rs185235724 12:22025671-22025671 12:21872737-21872737
50 ABCC9 NM_005691.3(ABCC9):c.2199-11=SNV Benign/Likely benign 45402 rs697250 12:22017422-22017422 12:21864488-21864488

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 integral component of membrane GO:0016021 9.9 TMEM106B PAPPA-AS1 LRRC52 KCNJ8 KCNJ11 KCNH3
2 sarcolemma GO:0042383 9.26 KCNJ8 KCNJ11 CACNA1C 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 transmembrane transport GO:0055085 9.83 KCNJ11 KCNH3 CACNA1C ABCC9 ABCC8
2 ion transport GO:0006811 9.63 LRRC52 KCNJ8 KCNJ11 KCNH3 CACNA1C ATP6V0A2
3 regulation of ion transmembrane transport GO:0034765 9.56 KCNJ8 KCNJ11 KCNH3 CACNA1C
4 regulation of insulin secretion GO:0050796 9.54 KCNJ11 CACNA1C ABCC8
5 potassium ion import across plasma membrane GO:1990573 9.5 KCNJ8 KCNJ11 ABCC9
6 negative regulation of insulin secretion GO:0046676 9.48 KCNJ11 ABCC8
7 response to ATP GO:0033198 9.46 KCNJ11 ABCC9
8 potassium ion transport GO:0006813 9.43 LRRC52 KCNJ8 KCNJ11 KCNH3 ABCC9 ABCC8
9 positive regulation of voltage-gated potassium channel activity GO:1903818 9.4 LRRC52 ABCC8
10 potassium ion transmembrane transport GO:0071805 9.1 LRRC52 KCNJ8 KCNJ11 KCNH3 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 9.56 LRRC52 KCNJ11 ABCC9 ABCC8
2 voltage-gated potassium channel activity GO:0005249 9.54 LRRC52 KCNJ11 KCNH3
3 voltage-gated ion channel activity GO:0005244 9.46 KCNJ8 KCNJ11 KCNH3 CACNA1C
4 inward rectifier potassium channel activity GO:0005242 9.4 KCNJ8 KCNJ11
5 ATP-activated inward rectifier potassium channel activity GO:0015272 9.32 KCNJ8 KCNJ11
6 sulfonylurea receptor activity GO:0008281 8.96 ABCC9 ABCC8
7 potassium channel activity GO:0005267 8.92 LRRC52 KCNH3 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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