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 57 12 53 25 75 44 40 73
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
Cantú Syndrome 25
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:



Summaries for Cantu Syndrome

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 cantĂș 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 Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include bone, heart and pancreas, and related phenotypes are macrocephaly and short neck

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

Genetics Home Reference : 25 CantĂș 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.

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.

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 all 30)
# Related Disease Score Top Affiliating Genes
1 hypertrichosis 30.2 ABCC9 KCNJ11 KCNJ8
2 cantú syndrome and related disorders 12.1
3 hair defect-photosensitivity-intellectual disability syndrome 11.7
4 acromegaloid facial appearance syndrome 11.3
5 cutis laxa, autosomal dominant 1 11.1
6 autosomal recessive cutis laxa type i 11.1
7 hair defect with photosensitivity and mental retardation 11.0
8 munchausen by proxy 10.2 ABCC8 KCNJ11
9 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.2 ABCC8 KCNJ11
10 acute insulin response 10.1 ABCC8 KCNJ11
11 maturity-onset diabetes of the young, type 13 10.1 ABCC8 KCNJ11
12 usher syndrome, type ic 10.1 ABCC8 KCNJ11
13 endocrine pancreas disease 10.1 ABCC8 KCNJ11
14 pancreatic agenesis 10.1 ABCC8 KCNJ11
15 arteriolosclerosis 10.1 ABCC9 TARDBP
16 monogenic diabetes 10.1 ABCC8 KCNJ11
17 thiamine-responsive megaloblastic anemia syndrome 10.1 ABCC8 KCNJ11
18 pulmonary hypertension 10.0
19 craniosynostosis 10.0
20 osteochondrodysplasia 10.0
21 aortic aneurysm 10.0
22 maturity-onset diabetes of the young, type 1 10.0 ABCC8 FABP2 KCNJ11
23 diabetes mellitus, transient neonatal, 1 10.0 ABCC8 KCNJ11
24 maturity-onset diabetes of the young 10.0 ABCC8 FABP2 KCNJ11
25 brugada syndrome 10.0 ABCC9 CACNA1C KCNJ8
26 cardiomyopathy, dilated, 1o 10.0 ABCC8 ABCC9 KCNJ11 KCNJ8
27 asphyxia neonatorum 10.0 ABCC8 MGAM
28 hyperinsulinemic hypoglycemia 9.9 ABCC8 KCNJ11
29 coronary artery vasospasm 9.9 ABCC9 KCNJ8 MGAM
30 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 9.9 ABCC8 KCNJ11 MGAM

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



Diseases related to Cantu Syndrome

Symptoms & Phenotypes for Cantu Syndrome

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

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

Head And Neck Mouth:
thick lips
gingival hypertrophy

Chest External Features:
narrow thorax

Growth Weight:
birthweight > 90th percentile

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 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

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 ABCC8 LIG3 TARDBP
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 ABCC9 CACNA1C KCNJ11 LGALS1 LIG3 MYH11

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:

41
Bone, Heart, Pancreas

Publications for Cantu Syndrome

Articles related to Cantu Syndrome:

(show all 18)
# 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
Cardiovascular consequences of KATP overactivity in Cantu syndrome. ( 30089727 )
2018
3
K(ATP) channel gain-of-function leads to increased myocardial L-type Ca(2+) current and contractility in Cantu syndrome. ( 27247394 )
2016
4
Neurologic and neuroimaging manifestations of Cantú syndrome: A case series. ( 27316244 )
2016
5
Differential mechanisms of Cantu syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel. ( 26621776 )
2015
6
Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome. ( 26142302 )
2015
7
Aortic aneurysm and craniosynostosis in a family with Cantu syndrome. ( 24352916 )
2014
8
Cantú syndrome resulting from activating mutation in the KCNJ8 gene. ( 24700710 )
2014
9
Dominant missense mutations in ABCC9 cause Cantu syndrome. ( 22610116 )
2012
10
Cantu syndrome is caused by mutations in ABCC9. ( 22608503 )
2012
11
Cantu syndrome and lymphoedema. ( 20890180 )
2011
12
Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome. ( 22310962 )
2011
13
Pulmonary hypertension secondary to partial pulmonary venous obstruction in a child with Cantu syndrome. ( 20575102 )
2010
14
Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. ( 16835932 )
2006
15
Cantu syndrome. ( 15735970 )
2005
16
A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome. ( 16278903 )
2005
17
Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). ( 11050630 )
2000
18
Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome. ( 9571276 )
1998

Variations for Cantu Syndrome

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 94)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC9 NM_005691.3(ABCC9): c.3460C> T (p.Arg1154Trp) single nucleotide variant Pathogenic rs387907208 GRCh38 Chromosome 12, 21842327: 21842327
2 ABCC9 NM_020297.3(ABCC9): c.3461G> A (p.Arg1154Gln) single nucleotide variant Pathogenic rs387907209 GRCh37 Chromosome 12, 21995260: 21995260
3 ABCC9 NM_020297.3(ABCC9): c.3461G> A (p.Arg1154Gln) single nucleotide variant Pathogenic rs387907209 GRCh38 Chromosome 12, 21842326: 21842326
4 ABCC9 NM_005691.3(ABCC9): c.3128G> A (p.Cys1043Tyr) single nucleotide variant Pathogenic rs387907210 GRCh37 Chromosome 12, 21997818: 21997818
5 ABCC9 NM_005691.3(ABCC9): c.3460C> T (p.Arg1154Trp) single nucleotide variant Pathogenic rs387907208 GRCh37 Chromosome 12, 21995261: 21995261
6 ABCC9 NM_005691.3(ABCC9): c.3128G> A (p.Cys1043Tyr) single nucleotide variant Pathogenic rs387907210 GRCh38 Chromosome 12, 21844884: 21844884
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_005691.3(ABCC9): c.3347G> A (p.Arg1116His) single nucleotide variant Pathogenic rs387907227 GRCh37 Chromosome 12, 21995374: 21995374
10 ABCC9 NM_005691.3(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.-11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs72559432 GRCh37 Chromosome 12, 22089619: 22089619
18 ABCC9 NM_005691.3(ABCC9): c.-11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs72559432 GRCh38 Chromosome 12, 21936685: 21936685
19 ABCC9 NM_005691.3(ABCC9): c.1165-6delT deletion Benign/Likely benign rs35857705 GRCh37 Chromosome 12, 22063252: 22063252
20 ABCC9 NM_005691.3(ABCC9): c.1165-6delT deletion Benign/Likely benign rs35857705 GRCh38 Chromosome 12, 21910318: 21910318
21 ABCC9 NM_005691.3(ABCC9): c.2631G> A (p.Thr877=) single nucleotide variant Benign/Likely benign rs139408145 GRCh37 Chromosome 12, 22005314: 22005314
22 ABCC9 NM_005691.3(ABCC9): c.2631G> A (p.Thr877=) single nucleotide variant Benign/Likely benign rs139408145 GRCh38 Chromosome 12, 21852380: 21852380
23 ABCC9 NM_005691.3(ABCC9): c.2644-11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs61926078 GRCh37 Chromosome 12, 22005167: 22005167
24 ABCC9 NM_005691.3(ABCC9): c.2644-11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs61926078 GRCh38 Chromosome 12, 21852233: 21852233
25 ABCC9 NM_020297.3(ABCC9): c.1164+11A> G single nucleotide variant Benign/Likely benign rs4762720 GRCh37 Chromosome 12, 22063749: 22063749
26 ABCC9 NM_020297.3(ABCC9): c.1164+11A> G single nucleotide variant Benign/Likely benign rs4762720 GRCh38 Chromosome 12, 21910815: 21910815
27 ABCC9 NM_005691.3(ABCC9): c.1165-6dupT duplication Conflicting interpretations of pathogenicity rs397517182 GRCh37 Chromosome 12, 22063252: 22063252
28 ABCC9 NM_005691.3(ABCC9): c.1165-6dupT duplication Conflicting interpretations of pathogenicity rs397517182 GRCh38 Chromosome 12, 21910318: 21910318
29 ABCC9 NM_020297.3(ABCC9): c.1296C= (p.Pro432=) single nucleotide variant Benign/Likely benign rs10770865 GRCh37 Chromosome 12, 22063115: 22063115
30 ABCC9 NM_020297.3(ABCC9): c.1296C= (p.Pro432=) single nucleotide variant Benign/Likely benign rs10770865 GRCh38 Chromosome 12, 21910181: 21910181
31 ABCC9 NM_005691.3(ABCC9): c.1557G> A (p.Glu519=) single nucleotide variant Conflicting interpretations of pathogenicity rs143346402 GRCh37 Chromosome 12, 22059121: 22059121
32 ABCC9 NM_005691.3(ABCC9): c.1557G> A (p.Glu519=) single nucleotide variant Conflicting interpretations of pathogenicity rs143346402 GRCh38 Chromosome 12, 21906187: 21906187
33 ABCC9 NM_020297.3(ABCC9): c.1848C> T (p.Asp616=) single nucleotide variant Benign/Likely benign rs61001398 GRCh37 Chromosome 12, 22040823: 22040823
34 ABCC9 NM_020297.3(ABCC9): c.1848C> T (p.Asp616=) single nucleotide variant Benign/Likely benign rs61001398 GRCh38 Chromosome 12, 21887889: 21887889
35 ABCC9 NM_005691.3(ABCC9): c.2093-7T> C single nucleotide variant Benign/Likely benign rs185235724 GRCh37 Chromosome 12, 22025671: 22025671
36 ABCC9 NM_005691.3(ABCC9): c.2093-7T> C single nucleotide variant Benign/Likely benign rs185235724 GRCh38 Chromosome 12, 21872737: 21872737
37 ABCC9 NM_020297.3(ABCC9): c.2199-11T> C single nucleotide variant Benign/Likely benign rs697250 GRCh37 Chromosome 12, 22017422: 22017422
38 ABCC9 NM_020297.3(ABCC9): c.2199-11T> C single nucleotide variant Benign/Likely benign rs697250 GRCh38 Chromosome 12, 21864488: 21864488
39 ABCC9 NM_020297.3(ABCC9): c.2424+9T> C single nucleotide variant Benign/Likely benign rs11835804 GRCh37 Chromosome 12, 22013896: 22013896
40 ABCC9 NM_020297.3(ABCC9): c.2424+9T> C single nucleotide variant Benign/Likely benign rs11835804 GRCh38 Chromosome 12, 21860962: 21860962
41 ABCC9 NM_005691.3(ABCC9): c.2862C> T (p.Asp954=) single nucleotide variant Conflicting interpretations of pathogenicity rs2291550 GRCh37 Chromosome 12, 22001088: 22001088
42 ABCC9 NM_005691.3(ABCC9): c.2862C> T (p.Asp954=) single nucleotide variant Conflicting interpretations of pathogenicity rs2291550 GRCh38 Chromosome 12, 21848154: 21848154
43 ABCC9 NM_005691.3(ABCC9): c.372T> C (p.Asn124=) single nucleotide variant Conflicting interpretations of pathogenicity rs377384557 GRCh37 Chromosome 12, 22078910: 22078910
44 ABCC9 NM_005691.3(ABCC9): c.372T> C (p.Asn124=) single nucleotide variant Conflicting interpretations of pathogenicity rs377384557 GRCh38 Chromosome 12, 21925976: 21925976
45 ABCC9 NM_020297.3(ABCC9): c.407-14C> A single nucleotide variant Conflicting interpretations of pathogenicity rs201279882 GRCh37 Chromosome 12, 22070051: 22070051
46 ABCC9 NM_020297.3(ABCC9): c.407-14C> A single nucleotide variant Conflicting interpretations of pathogenicity rs201279882 GRCh38 Chromosome 12, 21917117: 21917117
47 ABCC9 NM_020297.3(ABCC9): c.574-5C> A single nucleotide variant Benign/Likely benign rs3759236 GRCh37 Chromosome 12, 22068849: 22068849
48 ABCC9 NM_020297.3(ABCC9): c.574-5C> A single nucleotide variant Benign/Likely benign rs3759236 GRCh38 Chromosome 12, 21915915: 21915915
49 ABCC9 NM_005691.3(ABCC9): c.2770-13A> G single nucleotide variant Conflicting interpretations of pathogenicity rs184123387 GRCh37 Chromosome 12, 22001193: 22001193
50 ABCC9 NM_005691.3(ABCC9): c.2770-13A> G single nucleotide variant Conflicting interpretations of pathogenicity rs184123387 GRCh38 Chromosome 12, 21848259: 21848259

Expression for Cantu Syndrome

Search GEO for disease gene expression data for Cantu Syndrome.

Pathways for Cantu Syndrome

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.65 ABCC8 ABCC9 KCNJ11 KCNJ8
2
Show member pathways
12.35 ABCC9 CACNA1C KCNJ11 MYH11
3
Show member pathways
11.97 ABCC8 CACNA1C KCNJ11
4 11.94 CACNA1C KCNJ11 KCNJ8
5
Show member pathways
11.63 ABCC8 ABCC9 KCNJ11 KCNJ8
6
Show member pathways
11.42 ABCC8 CACNA1C KCNJ11
7
Show member pathways
11.32 ABCC8 ABCC9 KCNJ11 KCNJ8
8 11.19 ABCC8 KCNJ11
9 11.1 ABCC8 KCNJ11
10 10.91 ABCC9 KCNJ8
11 10.77 ABCC8 ABCC9 CACNA1C KCNJ11 KCNJ8

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 9.35 ABCC8 ABCC9 CACNA1C KCNJ11 KCNJ8
2 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 ion transmembrane transport GO:0034220 9.63 CACNA1C KCNJ11 KCNJ8
2 response to drug GO:0042493 9.62 ABCC8 ABCC9 KCNJ11 LGALS1
3 regulation of ion transmembrane transport GO:0034765 9.58 CACNA1C KCNJ11 KCNJ8
4 potassium ion transmembrane transport GO:0071805 9.54 ABCC8 KCNJ11 KCNJ8
5 negative regulation of insulin secretion GO:0046676 9.43 ABCC8 KCNJ11
6 regulation of insulin secretion GO:0050796 9.43 ABCC8 CACNA1C KCNJ11
7 potassium ion import across plasma membrane GO:1990573 9.33 ABCC9 KCNJ11 KCNJ8
8 potassium ion import GO:0010107 9.13 ABCC9 KCNJ11 KCNJ8
9 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 9.85 ABCC8 ABCC9 KCNJ11 KCNJ8 LIG3 MYH11
2 ion channel binding GO:0044325 9.43 ABCC8 ABCC9 KCNJ11
3 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.4 ABCC8 ABCC9
4 voltage-gated ion channel activity GO:0005244 9.33 CACNA1C KCNJ11 KCNJ8
5 inward rectifier potassium channel activity GO:0005242 9.32 KCNJ11 KCNJ8
6 sulfonylurea receptor activity GO:0008281 8.96 ABCC8 ABCC9
7 ATP-activated inward rectifier potassium channel activity GO:0015272 8.8 ABCC8 KCNJ11 KCNJ8

Sources for Cantu Syndrome

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
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