MCID: CNT056
MIFTS: 49

Cantu Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Cardiovascular diseases categories
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Summaries for Cantu Syndrome

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Genetics Home Reference:21 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 based summary: Cantu Syndrome, also known as hypertrichotic osteochondrodysplasia, is related to cantú syndrome and related disorders and craniosynostosis, and has symptoms including low hair line-front, coarse face and thick/bushy eyebrows. 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 and heart.

Wikipedia:65 Cant more...

Description from OMIM:46 239850

Aliases & Classifications for Cantu Syndrome

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 20GeneTests, 22GTR, 46OMIM, 62UMLS, 48Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Cantu Syndrome, Aliases & Descriptions:

Name: Cantu Syndrome 42 21
Hypertrichotic Osteochondrodysplasia 42 20 22 21 46 62
Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome 21 62
Hypertrichotic Osteochondrodysplasia, Cantu Type 48
 
Craniofaciocardioskeletal Syndrome 42
Cantu's Syndrome 62
Cantú Syndrome 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
hypertrichotic osteochondrodysplasia, cantu type:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

UMLS via Orphanet63 C0795905
OMIM46 239850
MESH via Orphanet35 C535572
ICD10 via Orphanet26 Q87.3

Related Diseases for Cantu Syndrome

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Diseases in the Cantu Syndrome family:

Cantú Syndrome and Related Disorders

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1cantú syndrome and related disorders10.3
2craniosynostosis10.1
3hypertension10.1
4pulmonary hypertension10.1
5aortic aneurysm10.1
6hypertrichosis10.1
7osteochondrodysplasia10.1
8hair defect with photosensitivity and mental retardation10.1
9wrinkly skin syndrome10.1
10aneurysm10.1
11hair 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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Symptoms by clinical synopsis from OMIM:

239850

Clinical features from OMIM:

239850

Symptoms:

48 (show all 38)
  • low hair line-front
  • 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
  • narrow/sloping shoulders
  • narrow rib cage/thorax
  • rib structure anomalies
  • 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

HPO human phenotypes related to Cantu Syndrome:

(show all 75)
id Description Frequency HPO Source Accession
1 wide mouth hallmark (90%) HP:0000154
2 thick lower lip vermilion hallmark (90%) HP:0000179
3 coarse facial features hallmark (90%) HP:0000280
4 low anterior hairline hallmark (90%) HP:0000294
5 long philtrum hallmark (90%) HP:0000343
6 abnormality of the eyelashes hallmark (90%) HP:0000499
7 thick eyebrow hallmark (90%) HP:0000574
8 abnormality of the metaphyses hallmark (90%) HP:0000944
9 hypertrichosis hallmark (90%) HP:0000998
10 cardiomegaly hallmark (90%) HP:0001640
11 low posterior hairline hallmark (90%) HP:0002162
12 abnormality of the hip bone hallmark (90%) HP:0003272
13 macrocephaly typical (50%) HP:0000256
14 epicanthus typical (50%) HP:0000286
15 prominent supraorbital ridges typical (50%) HP:0000336
16 anteverted nares typical (50%) HP:0000463
17 short neck typical (50%) HP:0000470
18 abnormality of the ribs typical (50%) HP:0000772
19 narrow chest typical (50%) HP:0000774
20 platyspondyly typical (50%) HP:0000926
21 umbilical hernia typical (50%) HP:0001537
22 patent ductus arteriosus typical (50%) HP:0001643
23 preaxial foot polydactyly typical (50%) HP:0001841
24 deep plantar creases typical (50%) HP:0001869
25 skeletal dysplasia typical (50%) HP:0002652
26 delayed skeletal maturation typical (50%) HP:0002750
27 abnormality of the shoulder typical (50%) HP:0003043
28 reduced bone mineral density typical (50%) HP:0004349
29 short distal phalanx of finger typical (50%) HP:0009882
30 short hallux typical (50%) HP:0010109
31 cognitive impairment typical (50%) HP:0100543
32 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
33 abnormality of the heart valves occasional (7.5%) HP:0001654
34 accelerated skeletal maturation occasional (7.5%) HP:0005616
35 finger syndactyly occasional (7.5%) HP:0006101
36 autosomal dominant inheritance HP:0000006
37 thick lower lip vermilion HP:0000179
38 gingival overgrowth HP:0000212
39 thick upper lip vermilion HP:0000215
40 macrocephaly HP:0000256
41 coarse facial features HP:0000280
42 epicanthus HP:0000286
43 long philtrum HP:0000343
44 wide nasal bridge HP:0000431
45 anteverted nares HP:0000463
46 short neck HP:0000470
47 long eyelashes HP:0000527
48 narrow chest HP:0000774
49 platyspondyly HP:0000926
50 osteoporosis HP:0000939
51 lymphedema HP:0001004
52 intellectual disability, mild HP:0001256
53 large for gestational age HP:0001520
54 umbilical hernia HP:0001537
55 cardiomegaly HP:0001640
56 patent ductus arteriosus HP:0001643
57 bicuspid aortic valve HP:0001647
58 pericardial effusion HP:0001698
59 coxa valga HP:0002673
60 large sella turcica HP:0002690
61 delayed skeletal maturation HP:0002750
62 metaphyseal widening HP:0003016
63 ovoid vertebral bodies HP:0003300
64 congenital, generalized hypertrichosis HP:0004540
65 cuboid-shaped vertebral bodies HP:0004634
66 erlenmeyer flask deformity of the femurs HP:0004975
67 congenital hypertrophy of left ventricle HP:0005129
68 depressed nasal bridge HP:0005280
69 widened posterior fossa HP:0005445
70 curly eyelashes HP:0007665
71 hypoplastic ischiopubic rami HP:0008822
72 broad hallux HP:0010055
73 broad first metatarsal HP:0010068
74 short hallux HP:0010109
75 prominent forehead HP:0011220

Drugs & Therapeutics for Cantu Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Cantu Syndrome

Genetic Tests for Cantu Syndrome

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Genetic tests related to Cantu Syndrome:

id Genetic test Affiliating Genes
1 Hypertrichotic Osteochondrodysplasia20 22 ABCC9

Anatomical Context for Cantu Syndrome

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MalaCards organs/tissues related to Cantu Syndrome:

32
Bone, Heart

Animal Models for Cantu Syndrome or affiliated genes

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Publications for Cantu Syndrome

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

64 (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:

6
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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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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Compounds for genes affiliated with Cantu Syndrome

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Compounds related to Cantu Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nicorandil44 2810.3KCNJ8, ABCC9
2cromakalim44 2810.3KCNJ8, ABCC9
3sulfonylurea449.3KCNJ8, ABCC9
4katp449.2KCNJ8, ABCC9
5diazoxide44 61 28 1112.2ABCC9, KCNJ8
6tolbutamide44 28 50 1112.1KCNJ8, ABCC9
7atp44 2810.1KCNJ8, ABCC9
8glibenclamide44 28 50 6112.0KCNJ8, ABCC9
9potassium44 24 1110.8KCNJ8, ABCC9

GO Terms for genes affiliated with Cantu Syndrome

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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
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Sources for Cantu Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet