Cantu Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

HTOCD MCID: CNT056 MIFTS: 51	Cantu Syndrome (HTOCD) Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Cardiovascular diseases Muscle diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 239850

Disease Ontology ¹² DOID:0060569

MeSH ⁴⁴ C535572 D006983 D010009

Orphanet ⁵⁹ ORPHA1517

MESH via Orphanet ⁴⁵ C535572

UMLS via Orphanet ⁷⁴ C0795905

MedGen ⁴² C0795905

UMLS ⁷³ C0795905

Sources

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 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 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 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.

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.

Sources

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:

Sources

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

Sources

Drugs & Therapeutics for Cantu Syndrome

Search Clinical Trials , NIH Clinical Center for Cantu Syndrome

Cochrane evidence based reviews: cantu syndrome

Sources

Genetic Tests for Cantu Syndrome

Genetic tests related to Cantu Syndrome:

#	Genetic test	Affiliating Genes
1	Hypertrichotic Osteochondrodysplasia ²⁹	ABCC9

Sources

Anatomical Context for Cantu Syndrome

MalaCards organs/tissues related to Cantu Syndrome:

⁴¹

Bone, Heart, Pancreas

Sources

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 )	McClenaghan C....Nichols C.G.	2018
2	Cardiovascular consequences of KATP overactivity in Cantu syndrome. ( 30089727 )	Huang Y...Nichols CG	2018
3	K(ATP) channel gain-of-function leads to increased myocardial L-type Ca(2+) current and contractility in Cantu syndrome. ( 27247394 )	Levin M.D....Nichols C.G.	2016
4	Neurologic and neuroimaging manifestations of Cantú syndrome: A case series. ( 27316244 )	Leon Guerrero CR...Vo KD	2016
5	Differential mechanisms of Cantu syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel. ( 26621776 )	Cooper P.E....Nichols C.G.	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 )	Cooper PE...Nichols CG	2014
9	Dominant missense mutations in ABCC9 cause Cantu syndrome. ( 22610116 )	Harakalova M....Cuppen E.	2012
10	Cantu syndrome is caused by mutations in ABCC9. ( 22608503 )		2012
11	Cantu syndrome and lymphoedema. ( 20890180 )	GarcA-a-Cruz D....Sanchez-Corona J.	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 )	Grange D.K....Singh G.K.	2006
15	Cantu syndrome. ( 15735970 )	Herman T.E....McAlister W.H.	2005
16	A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome. ( 16278903 )	Tan T.Y....Savarirayan R.	2005
17	Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). ( 11050630 )	Lazalde B...de Lourdes Ram?rez-Due?as M	2000
18	Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome. ( 9571276 )	Rosser E.M....Leonard J.V.	1998

Sources

Genes for Cantu Syndrome

Genes related to Cantu Syndrome (2 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ABCC9	ATP Binding Cassette Subfamily C Member 9	Protein Coding	1669.16	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵	25275207 22608503 22610116 (more) 21344641 10398267 16835932
2	KCNJ8	Potassium Voltage-Gated Channel Subfamily J Member 8	Protein Coding	368.61	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
3	USP53	Ubiquitin Specific Peptidase 53	Protein Coding	16.89	DISEASES inferred ¹⁵
4	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	16.46	DISEASES inferred ¹⁵
5	MYOZ2	Myozenin 2	Protein Coding	15.91	DISEASES inferred ¹⁵
6	KCNJ11	Potassium Voltage-Gated Channel Subfamily J Member 11	Protein Coding	15.91	DISEASES inferred ¹⁵
7	FABP2	Fatty Acid Binding Protein 2	Protein Coding	14.32	DISEASES inferred ¹⁵
8	LIG3	DNA Ligase 3	Protein Coding	14.16	DISEASES inferred ¹⁵
9	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	14.15	DISEASES inferred ¹⁵
10	MYH11	Myosin Heavy Chain 11	Protein Coding	14.05	DISEASES inferred ¹⁵
11	TARDBP	TAR DNA Binding Protein	Protein Coding	13.15	DISEASES inferred ¹⁵
12	MGAM	Maltase-Glucoamylase	Protein Coding	12.98	DISEASES inferred ¹⁵
13	LGALS1	Galectin 1	Protein Coding	4.22	DISEASES inferred ¹⁵

Sources

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

Sources

Expression for Cantu Syndrome

Search GEO for disease gene expression data for Cantu Syndrome.

Sources

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	Transmission across Chemical Synapses ⁶⁶ Show member pathways Neuronal System ⁶⁶ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁶	12.65	ABCC8 ABCC9 KCNJ11 KCNJ8
2	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.35	ABCC9 CACNA1C KCNJ11 MYH11
3	Integration of energy metabolism ⁶⁶ Show member pathways Acetylcholine regulates insulin secretion ⁶⁶ AMPK inhibits chREBP transcriptional activation activity ⁶⁶ ChREBP activates metabolic gene expression ⁶⁶ PKA-mediated phosphorylation of key metabolic factors ⁶⁶ PP2A-mediated dephosphorylation of key metabolic factors ⁶⁶ Regulation of insulin secretion ⁶⁶	11.97	ABCC8 CACNA1C KCNJ11
4	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁴	11.94	CACNA1C KCNJ11 KCNJ8
5	Potassium Channels ⁶⁶ Show member pathways HCN channels ⁶⁶ Voltage gated Potassium channels ⁶⁶	11.63	ABCC8 ABCC9 KCNJ11 KCNJ8
6	Type II diabetes mellitus ³⁷ ¹ Show member pathways Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics ⁶¹	11.42	ABCC8 CACNA1C KCNJ11
7	Inwardly rectifying K+ channels ⁶⁶ Show member pathways Activation of G protein gated Potassium channels ⁶⁶ ATP sensitive Potassium channels ⁶⁶ Defective ABCC8 can cause hypoglycemias and hyperglycemias ⁶⁶ G protein gated Potassium channels ⁶⁶ Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits ⁶⁶ Potassium transport channels ⁶⁶	11.32	ABCC8 ABCC9 KCNJ11 KCNJ8
8	Development_Leptin signaling via PI3K-dependent pathway ²²	11.19	ABCC8 KCNJ11
9	FOXA2 and FOXA3 transcription factor networks ¹	11.1	ABCC8 KCNJ11
10	CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) ²²	10.91	ABCC9 KCNJ8
11	Antiarrhythmic Pathway, Pharmacodynamics ⁶¹	10.77	ABCC8 ABCC9 CACNA1C KCNJ11 KCNJ8

Sources

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

Sources for Cantu Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Cantu Syndrome (HTOCD)

Aliases & Classifications for Cantu Syndrome

MalaCards integrated aliases for Cantu Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cantu Syndrome

Related Diseases for Cantu Syndrome

Diseases in the Cantu Syndrome family:

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

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

Symptoms & Phenotypes for Cantu Syndrome

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Cantu Syndrome:

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

MGI Mouse Phenotypes related to Cantu Syndrome:

Drugs & Therapeutics for Cantu Syndrome

Cochrane evidence based reviews: cantu syndrome

Genetic Tests for Cantu Syndrome

Genetic tests related to Cantu Syndrome:

Anatomical Context for Cantu Syndrome

MalaCards organs/tissues related to Cantu Syndrome:

Publications for Cantu Syndrome

Articles related to Cantu Syndrome:

Genes for Cantu Syndrome

Genes related to Cantu Syndrome (2 elite genes):

Variations for Cantu Syndrome

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

ClinVar genetic disease variations for Cantu Syndrome:

Expression for Cantu Syndrome

Pathways for Cantu Syndrome

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

GO Terms for Cantu Syndrome

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

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

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

Sources for Cantu Syndrome