MCID: CNT056
MIFTS: 47

Cantu Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Cardiovascular diseases categories

Summaries for Cantu Syndrome

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22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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.

MalaCards: Cantu Syndrome, also known as hypertrichotic osteochondrodysplasia, is related to central hypothyroidism and testicular enlargement and aortic aneurysm, and has symptoms including abnormal vertebral size/shape, platyspondyly and umbilical hernia. An important gene associated with Cantu Syndrome is ABCC9 (ATP-binding cassette, sub-family C (CFTR/MRP), member 9), and among its related pathways are Transmission across Chemical Synapses and Potassium Channels. The compounds nicorandil and cromakalim have been mentioned in the context of this disorder. Affiliated tissues include bone.

Wikipedia:66 Cant more...

Description from OMIM:48 239850

Aliases & Classifications for Cantu Syndrome

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Sources:
44NIH Rare Diseases, 22Genetics Home Reference, 21GeneTests, 23GTR, 48OMIM, 63UMLS, 50Orphanet, 64UMLS via Orphanet, 27ICD10 via Orphanet, 37MESH via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
hypertrichotic osteochondrodysplasia, cantu type:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

cantu syndrome 44 22
hypertrichotic osteochondrodysplasia 44 21 23 22 48 63
hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome 22
hypertrichotic osteochondrodysplasia, cantu type 50
craniofaciocardioskeletal syndrome 44
cantu's syndrome 63
cantú syndrome 22


External Ids:

UMLS via Orphanet64 C0795905
ICD10 via Orphanet27 Q87.3
OMIM48 239850
MESH via Orphanet37 C535572
SNOMED-CT via Orphanet60 239087008

Related Diseases for Cantu Syndrome

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Cantu Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1central hypothyroidism and testicular enlargement10.2
2aortic aneurysm10.1
3craniosynostosis10.1
4hypertension10.1
5hypertrichosis10.1
6osteochondrodysplasia10.1
7hair defect with photosensitivity and mental retardation10.1
8wrinkly skin syndrome10.1
9aneurysm10.1
10hair defect - photosensitivity - intellectual disability10.1

Graphical network of diseases related to Cantu Syndrome:



Diseases related to cantu syndrome

Symptoms for Cantu Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

239850

Clinical features from OMIM:

239850

Symptoms:

50 (show all 38)
  • abnormal vertebral size/shape
  • platyspondyly
  • umbilical hernia
  • terminal/third phalangeal bone of fingers hypoplasia
  • short big toe
  • broad/bifid big toe
  • abnormal sole/deep creases
  • patent ductus arteriosus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • delayed bone age
  • syndactyly of fingers/interdigital palm
  • cardiac valvulopathy
  • cardiomyopathy/hypertrophic/dilated
  • advanced bone age
  • autosomal dominant inheritance
  • rib structure anomalies
  • narrow rib cage/thorax
  • narrow/sloping shoulders
  • coarse face
  • thick/bushy eyebrows
  • long/thick/curved lashes/trichomegaly/polytrichia
  • macrostomia/big mouth
  • thick lips
  • long philtrum
  • hirsutism/hypertrichosis/increased body hair
  • low hair line (back)
  • cardiomegaly
  • metaphyseal anomaly
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • prominent supraorbital ridge
  • epicanthic folds
  • broad nose/nasal bridge
  • anteverted nares/nostrils
  • short neck
  • low hair line-front

Drugs & Therapeutics for Cantu Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Cantu Syndrome

Genetic Tests for Cantu Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Cantu Syndrome:

id Genetic test Affiliating Genes
1 Hypertrichotic Osteochondrodysplasia21 23 ABCC9

Anatomical Context for Cantu Syndrome

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34MalaCards
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MalaCards organs/tissues related to Cantu Syndrome:

34
Bone

Animal Models for Cantu Syndrome or affiliated genes

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Publications for Cantu Syndrome

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Sources:
53PubMed
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Articles related to Cantu Syndrome:

idTitleAuthorsYear
1
Aortic aneurysm and craniosynostosis in a family with Cantu syndrome. (24352916)
2014
2
Cantu syndrome is caused by mutations in ABCC9. (22608503)
2012
3
Dominant missense mutations in ABCC9 cause Cantu syndrome. (22610116)
2012
4
Cantu syndrome and lymphoedema. (20890180)
2011
5
Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome. (22310962)
2011
6
Pulmonary hypertension secondary to partial pulmonary venous obstruction in a child with Cantu syndrome. (20575102)
2010
7
Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. (16835932)
2006
8
Cantu syndrome. (15735970)
2005
9
A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome. (16278903)
2005
10
Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome. (9571276)
1998

Variations for Cantu Syndrome

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Cantu Syndrome:

65 (show all 13)
id Symbol AA change Variation ID SNP ID
1ABCC9p.His60TyrVAR_068485
2ABCC9p.Asp207GluVAR_068486
3ABCC9p.Gly380CysVAR_068487
4ABCC9p.Pro432LeuVAR_068488
5ABCC9p.Ala478ValVAR_068489
6ABCC9p.Ser1020ProVAR_068490
7ABCC9p.Phe1039SerVAR_068491
8ABCC9p.Cys1043TyrVAR_068492
9ABCC9p.Ser1054TyrVAR_068493
10ABCC9p.Arg1116CysVAR_068494
11ABCC9p.Arg1116HisVAR_068495
12ABCC9p.Arg1154GlnVAR_068496
13ABCC9p.Arg1154TrpVAR_068497

Clinvar genetic disease variations for Cantu Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1ABCC9NM_005691.3(ABCC9): c.3460C> T (p.Arg1154Trp)single nucleotide variantPathogenicrs387907208GRCh37Chr 12, 21995261: 21995261
2ABCC9NM_005691.3(ABCC9): c.3461G> A (p.Arg1154Gln)single nucleotide variantPathogenicrs387907209GRCh37Chr 12, 21995260: 21995260
3ABCC9NM_005691.3(ABCC9): c.3128G> A (p.Cys1043Tyr)single nucleotide variantPathogenicrs387907210GRCh37Chr 12, 21997818: 21997818
4ABCC9NM_005691.3(ABCC9): c.1433C> T (p.Ala478Val)single nucleotide variantPathogenicrs387907211GRCh37Chr 12, 22061033: 22061033
5ABCC9NM_005691.3(ABCC9): c.3347G> A (p.Arg1116His)single nucleotide variantPathogenicrs387907227GRCh37Chr 12, 21995374: 21995374
6ABCC9NM_005691.3(ABCC9): c.3346C> T (p.Arg1116Cys)single nucleotide variantPathogenicrs387907228GRCh37Chr 12, 21995375: 21995375
7ABCC9NM_005691.3(ABCC9): c.3058T> C (p.Ser1020Pro)single nucleotide variantPathogenicrs387907229GRCh37Chr 12, 21998575: 21998575
8ABCC9NM_005691.3(ABCC9): c.178C> T (p.His60Tyr)single nucleotide variantPathogenicrs387907230GRCh37Chr 12, 22086822: 22086822

Expression for genes affiliated with Cantu Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cantu Syndrome

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Pathways for genes affiliated with Cantu Syndrome

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Sources:
51PathCards, 56Reactome, 13EMD Millipore, 52PharmGKB, 61Thomson Reuters
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Compounds for genes affiliated with Cantu Syndrome

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Sources:
46Novoseek, 30IUPHAR, 62Tocris Bioscience, 12DrugBank, 52PharmGKB, 25HMDB
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Compounds related to Cantu Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nicorandil46 3010.3KCNJ8, ABCC9
2cromakalim46 3010.3KCNJ8, ABCC9
3sulfonylurea469.3KCNJ8, ABCC9
4katp469.2KCNJ8, ABCC9
5diazoxide46 62 30 1212.2ABCC9, KCNJ8
6tolbutamide46 30 52 1212.1KCNJ8, ABCC9
7atp46 3010.1KCNJ8, ABCC9
8glibenclamide46 30 52 6212.0KCNJ8, ABCC9
9potassium46 25 1210.8KCNJ8, ABCC9

GO Terms for genes affiliated with Cantu Syndrome

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17Gene Ontology
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Cellular components related to Cantu Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080769.1KCNJ8, ABCC9
2ATP-sensitive potassium channel complexGO:0082829.0KCNJ8, ABCC9
3sarcolemmaGO:0423838.8KCNJ8, ABCC9

Biological processes related to Cantu Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1potassium ion importGO:0101079.1KCNJ8, ABCC9
2synaptic transmissionGO:0072689.1KCNJ8, ABCC9
3potassium ion transportGO:0068139.0KCNJ8, ABCC9
4defense response to virusGO:0516078.8KCNJ8, ABCC9

Molecular functions related to Cantu Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:0055249.1KCNJ8, ABCC9

Products for genes affiliated with Cantu Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cantu Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet