Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: CNT056
MIFTS: 50

Cantu Syndrome

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Cardiovascular diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Cantu Syndrome

About this section

MalaCards integrated aliases for Cantu Syndrome:

Name: Cantu Syndrome 57 12 53 25 75 44 40 73 25
Hypertrichotic Osteochondrodysplasia 57 53 25 75 29 13 6
Hypertrichotic Osteochondrodysplasia Cantu Type 12 15
Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome 25
Hypertrichotic Osteochondrodysplasia, Cantu Type 59
Craniofaciocardioskeletal Syndrome 53
Htocd 75

Characteristics:

Orphanet epidemiological data:

59
hypertrichotic osteochondrodysplasia, cantu type
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cantu syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
Orphanet: 59  
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Cantu Syndrome

About this section
NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1517Disease definitionCantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.EpidemiologyTo date, fewer than 30 cases have been reported.Clinical descriptionDysmorphic 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.EtiologyMost 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.

MalaCards based summary : Cantu Syndrome, also known as hypertrichotic osteochondrodysplasia, is related to hypertrichosis and cantú syndrome and related disorders. An important gene associated with Cantu Syndrome is ABCC9 (ATP Binding Cassette Subfamily C Member 9), and among its related pathways/superpathways are Cardiac conduction and Integration of energy metabolism. Affiliated tissues include bone and heart, and related phenotypes are macrocephaly and short neck

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)

UniProtKB/Swiss-Prot : 75 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.

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

Wikipedia : 76 Cantú syndrome (hypertrychotic osteochondrodysplasia) is a rare condition characterized by... more...

Sources

Related Diseases for Cantu Syndrome

About this section

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 all 28)
# Related Disease Score Top Affiliating Genes
1 hypertrichosis 30.2 ABCC9 KCNJ11 KCNJ8
2 cantú syndrome and related disorders 11.9
3 hair defect-photosensitivity-intellectual disability syndrome 11.6
4 acromegaloid facial appearance syndrome 11.1
5 cutis laxa, autosomal dominant 1 10.9
6 autosomal recessive cutis laxa type i 10.9
7 hair defect with photosensitivity and mental retardation 10.9
8 munchausen by proxy 10.5 ABCC8 KCNJ11
9 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.5 ABCC8 KCNJ11
10 factitious disorder 10.5 ABCC8 KCNJ11
11 hyperinsulinemic hypoglycemia, familial, 2 10.5 ABCC8 KCNJ11
12 acute insulin response 10.4 ABCC8 KCNJ11
13 usher syndrome, type ic 10.4 ABCC8 KCNJ11
14 monogenic diabetes 10.3 ABCC8 KCNJ11
15 pancreatic agenesis 10.3 ABCC8 KCNJ11
16 endocrine pancreas disease 10.3 ABCC8 KCNJ11
17 arteriolosclerosis 10.2 ABCC9 TARDBP
18 pancreas disease 10.2 ABCC8 KCNJ11
19 diabetes mellitus, transient neonatal, 1 10.1 ABCC8 KCNJ11
20 coronary artery vasospasm 10.0 ABCC9 MGAM
21 brugada syndrome 10.0 ABCC9 CACNA1C KCNJ8
22 cardiomyopathy, dilated, 1o 9.9 ABCC8 ABCC9 KCNJ11 KCNJ8
23 pulmonary hypertension 9.9
24 craniosynostosis 9.9
25 osteochondrodysplasia 9.9
26 aortic aneurysm 9.9
27 aneurysm 9.9
28 hyperinsulinemic hypoglycemia 9.8 ABCC8 KCNJ11

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



Diseases related to Cantu Syndrome
Sources

Symptoms & Phenotypes for Cantu Syndrome

About this section

Symptoms via clinical synopsis from OMIM:

57
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

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

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

Skeletal Feet:
short, broad first toe
broad first metatarsal

Head And Neck Neck:
short neck

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

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

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

Head And Neck Mouth:
thick lips
gingival hypertrophy

Chest External Features:
narrow thorax

Growth Weight:
birthweight > 90th percentile

Skeletal Skull:
widened posterior fossa
enlarged sella

Neurologic Central Nervous System:
mild mental retardation (some)


Clinical features from OMIM:

239850

Human phenotypes related to Cantu Syndrome:

59 32 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
3 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
4 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
5 prominent supraorbital ridges 59 32 frequent (33%) Frequent (79-30%) HP:0000336
6 skeletal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002652
7 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
8 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
9 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
10 thick vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0012471
11 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
12 thick eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0000574
13 broad hallux phalanx 59 32 frequent (33%) Frequent (79-30%) HP:0010059
14 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
15 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
16 cardiomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001640
17 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
18 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
19 broad ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000885
20 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
21 ovoid vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003300
22 narrow chest 59 32 frequent (33%) Frequent (79-30%) HP:0000774
23 platyspondyly 59 32 frequent (33%) Frequent (79-30%) HP:0000926
24 patent ductus arteriosus 59 32 frequent (33%) Frequent (79-30%) HP:0001643
25 coxa valga 59 32 hallmark (90%) Very frequent (99-80%) HP:0002673
26 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
27 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002230
28 low posterior hairline 59 32 hallmark (90%) Very frequent (99-80%) HP:0002162
29 wide mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000154
30 low anterior hairline 59 32 hallmark (90%) Very frequent (99-80%) HP:0000294
31 cuboid-shaped vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0004634
32 curly eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0007665
33 short distal phalanx of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009882
34 long eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000527
35 short hallux 59 32 frequent (33%) Frequent (79-30%) HP:0010109
36 accelerated skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0005616
37 deep plantar creases 59 32 frequent (33%) Frequent (79-30%) HP:0001869
38 gingival overgrowth 32 HP:0000212
39 depressed nasal bridge 32 HP:0005280
40 prominent forehead 32 HP:0011220
41 thick lower lip vermilion 32 HP:0000179
42 abnormality of the heart valves 59 Occasional (29-5%)
43 lymphedema 32 HP:0001004
44 bicuspid aortic valve 32 HP:0001647
45 thick upper lip vermilion 32 HP:0000215
46 large for gestational age 32 HP:0001520
47 pericardial effusion 32 HP:0001698
48 broad hallux 32 HP:0010055
49 metaphyseal widening 32 HP:0003016
50 large sella turcica 32 HP:0002690

GenomeRNAi Phenotypes related to Cantu Syndrome according to GeneCards Suite gene sharing:

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.64 ABCC8
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.64 TARDBP
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.64 TARDBP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.64 ABCC8
5 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.64 ABCC8
6 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.64 TARDBP ABCC8 LIG3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.64 TARDBP
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.64 TARDBP
9 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.64 ABCC8
10 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.64 ABCC8 LIG3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.64 TARDBP
12 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.64 LIG3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.64 LIG3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.64 ABCC8
15 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.64 TARDBP
16 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.64 TARDBP
17 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.64 LIG3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.64 LIG3

MGI Mouse Phenotypes related to Cantu Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 ABCC8 ABCC9 CACNA1C FABP2 KCNJ11 KCNJ8
2 cardiovascular system MP:0005385 9.8 ABCC9 CACNA1C KCNJ11 KCNJ8 LIG3 MYH11
3 mortality/aging MP:0010768 9.61 ABCC9 CACNA1C KCNJ11 KCNJ8 LGALS1 LIG3
4 muscle MP:0005369 9.23 LGALS1 LIG3 MYH11 MYOZ2 TARDBP ABCC9
Sources

Drugs & Therapeutics for Cantu Syndrome

About this section

Search Clinical Trials , NIH Clinical Center for Cantu Syndrome

Cochrane evidence based reviews: cantu syndrome

Sources

Genetic Tests for Cantu Syndrome

About this section

Genetic tests related to Cantu Syndrome:

# Genetic test Affiliating Genes
1 Hypertrichotic Osteochondrodysplasia 29 ABCC9
Sources

Anatomical Context for Cantu Syndrome

About this section

MalaCards organs/tissues related to Cantu Syndrome:

41
Bone, Heart
Sources

Publications for Cantu Syndrome

About this section

Articles related to Cantu Syndrome:

(show all 14)
# Title Authors Year
1
Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in K<sub>ATP</sub>channel gain-of-function by differential mechanisms. ( 29275331 )
2018
2
K(ATP) channel gain-of-function leads to increased myocardial L-type Ca(2+) current and contractility in Cantu syndrome. ( 27247394 )
2016
3
Differential mechanisms of Cantu syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel. ( 26621776 )
2015
4
Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome. ( 26142302 )
2015
5
Aortic aneurysm and craniosynostosis in a family with Cantu syndrome. ( 24352916 )
2014
6
Dominant missense mutations in ABCC9 cause Cantu syndrome. ( 22610116 )
2012
7
Cantu syndrome is caused by mutations in ABCC9. ( 22608503 )
2012
8
Cantu syndrome and lymphoedema. ( 20890180 )
2011
9
Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome. ( 22310962 )
2011
10
Pulmonary hypertension secondary to partial pulmonary venous obstruction in a child with Cantu syndrome. ( 20575102 )
2010
11
Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. ( 16835932 )
2006
12
Cantu syndrome. ( 15735970 )
2005
13
A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome. ( 16278903 )
2005
14
Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome. ( 9571276 )
1998
Sources

Variations for Cantu Syndrome

About this section

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

75 (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
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

ClinVar genetic disease variations for Cantu Syndrome:

6
(show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC9 NM_020297.3(ABCC9): c.3461G> A (p.Arg1154Gln) single nucleotide variant Pathogenic rs387907209 GRCh38 Chromosome 12, 21842326: 21842326
2 ABCC9 NM_005691.3(ABCC9): c.3128G> A (p.Cys1043Tyr) single nucleotide variant Pathogenic rs387907210 GRCh37 Chromosome 12, 21997818: 21997818
3 ABCC9 NM_005691.3(ABCC9): c.3128G> A (p.Cys1043Tyr) single nucleotide variant Pathogenic rs387907210 GRCh38 Chromosome 12, 21844884: 21844884
4 ABCC9 NM_005691.3(ABCC9): c.3460C> T (p.Arg1154Trp) single nucleotide variant Pathogenic rs387907208 GRCh37 Chromosome 12, 21995261: 21995261
5 ABCC9 NM_005691.3(ABCC9): c.3460C> T (p.Arg1154Trp) single nucleotide variant Pathogenic rs387907208 GRCh38 Chromosome 12, 21842327: 21842327
6 ABCC9 NM_020297.3(ABCC9): c.3461G> A (p.Arg1154Gln) single nucleotide variant Pathogenic rs387907209 GRCh37 Chromosome 12, 21995260: 21995260
7 ABCC9 NM_005691.3(ABCC9): c.1433C> T (p.Ala478Val) single nucleotide variant Pathogenic rs387907211 GRCh37 Chromosome 12, 22061033: 22061033
8 ABCC9 NM_005691.3(ABCC9): c.1433C> T (p.Ala478Val) single nucleotide variant Pathogenic rs387907211 GRCh38 Chromosome 12, 21908099: 21908099
9 ABCC9 NM_020297.3(ABCC9): c.3347G> A (p.Arg1116His) single nucleotide variant Pathogenic rs387907227 GRCh37 Chromosome 12, 21995374: 21995374
10 ABCC9 NM_020297.3(ABCC9): c.3347G> A (p.Arg1116His) single nucleotide variant Pathogenic rs387907227 GRCh38 Chromosome 12, 21842440: 21842440
11 ABCC9 NM_005691.3(ABCC9): c.3346C> T (p.Arg1116Cys) single nucleotide variant Pathogenic rs387907228 GRCh37 Chromosome 12, 21995375: 21995375
12 ABCC9 NM_005691.3(ABCC9): c.3346C> T (p.Arg1116Cys) single nucleotide variant Pathogenic rs387907228 GRCh38 Chromosome 12, 21842441: 21842441
13 ABCC9 NM_005691.3(ABCC9): c.3058T> C (p.Ser1020Pro) single nucleotide variant Pathogenic rs387907229 GRCh37 Chromosome 12, 21998575: 21998575
14 ABCC9 NM_005691.3(ABCC9): c.3058T> C (p.Ser1020Pro) single nucleotide variant Pathogenic rs387907229 GRCh38 Chromosome 12, 21845641: 21845641
15 ABCC9 NM_005691.3(ABCC9): c.178C> T (p.His60Tyr) single nucleotide variant Pathogenic rs387907230 GRCh37 Chromosome 12, 22086822: 22086822
16 ABCC9 NM_005691.3(ABCC9): c.178C> T (p.His60Tyr) single nucleotide variant Pathogenic rs387907230 GRCh38 Chromosome 12, 21933888: 21933888
17 ABCC9 NM_005691.3(ABCC9): c.2770-13A> G single nucleotide variant Conflicting interpretations of pathogenicity rs184123387 GRCh37 Chromosome 12, 22001193: 22001193
18 ABCC9 NM_005691.3(ABCC9): c.2770-13A> G single nucleotide variant Conflicting interpretations of pathogenicity rs184123387 GRCh38 Chromosome 12, 21848259: 21848259
19 ABCC9 NM_020297.3(ABCC9): c.2199-6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs535477725 GRCh37 Chromosome 12, 22017417: 22017417
20 ABCC9 NM_020297.3(ABCC9): c.2199-6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs535477725 GRCh38 Chromosome 12, 21864483: 21864483
21 ABCC9 NM_020297.3(ABCC9): c.2826T> C (p.Tyr942=) single nucleotide variant Conflicting interpretations of pathogenicity rs141025897 GRCh38 Chromosome 12, 21848190: 21848190
22 ABCC9 NM_020297.3(ABCC9): c.2826T> C (p.Tyr942=) single nucleotide variant Conflicting interpretations of pathogenicity rs141025897 GRCh37 Chromosome 12, 22001124: 22001124
23 ABCC9 NM_005691.3(ABCC9): c.4316-14T> G single nucleotide variant Uncertain significance rs886049168 GRCh38 Chromosome 12, 21807493: 21807493
24 ABCC9 NM_005691.3(ABCC9): c.4316-14T> G single nucleotide variant Uncertain significance rs886049168 GRCh37 Chromosome 12, 21960427: 21960427
25 ABCC9 NM_005691.3(ABCC9): c.2769+12T> C single nucleotide variant Uncertain significance rs564071879 GRCh38 Chromosome 12, 21852085: 21852085
26 ABCC9 NM_005691.3(ABCC9): c.2769+12T> C single nucleotide variant Uncertain significance rs564071879 GRCh37 Chromosome 12, 22005019: 22005019
27 ABCC9 NM_005691.3(ABCC9): c.2238-16delC deletion Uncertain significance rs886049170 GRCh38 Chromosome 12, 21863070: 21863070
28 ABCC9 NM_005691.3(ABCC9): c.2238-16delC deletion Uncertain significance rs886049170 GRCh37 Chromosome 12, 22016004: 22016004
29 ABCC9 NM_005691.3(ABCC9): c.1992C> T (p.Pro664=) single nucleotide variant Uncertain significance rs780071007 GRCh38 Chromosome 12, 21882793: 21882793
30 ABCC9 NM_005691.3(ABCC9): c.1992C> T (p.Pro664=) single nucleotide variant Uncertain significance rs780071007 GRCh37 Chromosome 12, 22035727: 22035727
31 ABCC9 NM_005691.3(ABCC9): c.1670C> G (p.Thr557Ser) single nucleotide variant Uncertain significance rs886049171 GRCh38 Chromosome 12, 21894164: 21894164
32 ABCC9 NM_005691.3(ABCC9): c.1670C> G (p.Thr557Ser) single nucleotide variant Uncertain significance rs886049171 GRCh37 Chromosome 12, 22047098: 22047098
33 ABCC9 NM_005691.3(ABCC9): c.3556C> T (p.Arg1186Trp) single nucleotide variant Uncertain significance rs886049169 GRCh38 Chromosome 12, 21838088: 21838088
34 ABCC9 NM_005691.3(ABCC9): c.3556C> T (p.Arg1186Trp) single nucleotide variant Uncertain significance rs886049169 GRCh37 Chromosome 12, 21991022: 21991022
35 ABCC9 NM_005691.3(ABCC9): c.1332C> T (p.Gly444=) single nucleotide variant Conflicting interpretations of pathogenicity rs369830406 GRCh38 Chromosome 12, 21908200: 21908200
36 ABCC9 NM_005691.3(ABCC9): c.1332C> T (p.Gly444=) single nucleotide variant Conflicting interpretations of pathogenicity rs369830406 GRCh37 Chromosome 12, 22061134: 22061134
37 ABCC9 NM_005691.3(ABCC9): c.1165-4delG deletion Uncertain significance rs886049172 GRCh38 Chromosome 12, 21910316: 21910316
38 ABCC9 NM_005691.3(ABCC9): c.1165-4delG deletion Uncertain significance rs886049172 GRCh37 Chromosome 12, 22063250: 22063250
39 ABCC9 NM_005691.3(ABCC9): c.842G> A (p.Arg281Gln) single nucleotide variant Uncertain significance rs753456211 GRCh38 Chromosome 12, 21913041: 21913041
40 ABCC9 NM_005691.3(ABCC9): c.842G> A (p.Arg281Gln) single nucleotide variant Uncertain significance rs753456211 GRCh37 Chromosome 12, 22065975: 22065975
41 ABCC9 NM_005691.3(ABCC9): c.366T> C (p.Tyr122=) single nucleotide variant Uncertain significance rs886049174 GRCh38 Chromosome 12, 21925982: 21925982
42 ABCC9 NM_005691.3(ABCC9): c.366T> C (p.Tyr122=) single nucleotide variant Uncertain significance rs886049174 GRCh37 Chromosome 12, 22078916: 22078916
43 ABCC9 NM_005691.3(ABCC9): c.75T> C (p.Phe25=) single nucleotide variant Uncertain significance rs201972673 GRCh37 Chromosome 12, 22089534: 22089534
44 ABCC9 NM_005691.3(ABCC9): c.75T> C (p.Phe25=) single nucleotide variant Uncertain significance rs201972673 GRCh38 Chromosome 12, 21936600: 21936600
45 ABCC9 NM_005691.3(ABCC9): c.2238-17delT deletion Benign/Likely benign rs4148670 GRCh38 Chromosome 12, 21863071: 21863071
46 ABCC9 NM_005691.3(ABCC9): c.2238-17delT deletion Benign/Likely benign rs4148670 GRCh37 Chromosome 12, 22016005: 22016005
47 ABCC9 NM_005691.3(ABCC9): c.1659+10T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201753781 GRCh38 Chromosome 12, 21895265: 21895265
48 ABCC9 NM_005691.3(ABCC9): c.1659+10T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201753781 GRCh37 Chromosome 12, 22048199: 22048199
49 ABCC9 NM_005691.3(ABCC9): c.1165-7_1165-6delTT deletion Uncertain significance rs778815116 GRCh37 Chromosome 12, 22063252: 22063253
50 ABCC9 NM_005691.3(ABCC9): c.1165-7_1165-6delTT deletion Uncertain significance rs778815116 GRCh38 Chromosome 12, 21910318: 21910319
Sources

Expression for Cantu Syndrome

About this section
Search GEO for disease gene expression data for Cantu Syndrome.
Sources

Pathways for Cantu Syndrome

About this section

Pathways related to Cantu Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 66
Show member pathways
 12.35 ABCC9 CACNA1C KCNJ11 MYH11
2
Integration of energy metabolism 66
Show member pathways
 11.97 ABCC8 CACNA1C KCNJ11
3
Dopamine-DARPP32 Feedback onto cAMP Pathway 64
11.94 CACNA1C KCNJ11 KCNJ8
4
Potassium Channels 66
Show member pathways
 11.63 ABCC8 ABCC9 KCNJ11 KCNJ8
5
Type II diabetes mellitus 37 1
Show member pathways
 11.42 ABCC8 CACNA1C KCNJ11
6
Inwardly rectifying K+ channels 66
Show member pathways
 11.32 ABCC8 ABCC9 KCNJ11 KCNJ8
7
Development_Leptin signaling via PI3K-dependent pathway 22
11.19 ABCC8 KCNJ11
8
FOXA2 and FOXA3 transcription factor networks 1
11.1 ABCC8 KCNJ11
9
CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) 22
10.91 ABCC9 KCNJ8
10
Antiarrhythmic Pathway, Pharmacodynamics 61
10.77 ABCC8 ABCC9 CACNA1C KCNJ11 KCNJ8
Sources

GO Terms for Cantu Syndrome

About this section

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel complex GO:0008076 9.33 ABCC8 ABCC9 KCNJ8
2 sarcomere GO:0030017 9.26 ABCC9 MYOZ2
3 sarcolemma GO:0042383 9.26 ABCC8 ABCC9 KCNJ11 KCNJ8
4 inward rectifying potassium channel GO:0008282 8.92 ABCC8 ABCC9 KCNJ11 KCNJ8

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.73 ABCC8 ABCC9 CACNA1C KCNJ11
2 regulation of ion transmembrane transport GO:0034765 9.58 CACNA1C KCNJ11 KCNJ8
3 response to drug GO:0042493 9.56 ABCC8 ABCC9 KCNJ11 LGALS1
4 potassium ion transmembrane transport GO:0071805 9.54 ABCC8 KCNJ11 KCNJ8
5 regulation of insulin secretion GO:0050796 9.33 ABCC8 CACNA1C KCNJ11
6 ATP hydrolysis coupled anion transmembrane transport GO:0099133 9.32 ABCC8 ABCC9
7 potassium ion import GO:0010107 9.13 ABCC9 KCNJ11 KCNJ8
8 potassium ion transport GO:0006813 8.92 ABCC8 ABCC9 KCNJ11 KCNJ8

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.88 ABCC8 ABCC9 KCNJ11 KCNJ8 LIG3 MYH11
2 voltage-gated ion channel activity GO:0005244 9.5 CACNA1C KCNJ11 KCNJ8
3 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.43 ABCC8 ABCC9
4 ion channel binding GO:0044325 9.43 ABCC8 ABCC9 KCNJ11
5 inward rectifier potassium channel activity GO:0005242 9.37 KCNJ11 KCNJ8
6 ATPase-coupled anion transmembrane transporter activity GO:0043225 9.16 ABCC8 ABCC9
7 sulfonylurea receptor activity GO:0008281 8.96 ABCC8 ABCC9
8 ATP-activated inward rectifier potassium channel activity GO:0015272 8.8 ABCC8 KCNJ11 KCNJ8
Sources

Sources for Cantu Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....