MCID: CNT056
MIFTS: 37

Cantu Syndrome malady

Bone diseases, Fetal diseases, Cardiovascular diseases categories

Summaries for Cantu Syndrome

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Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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: Cantu Syndrome, also known as hypertrichotic osteochondrodysplasia, is related to central hypothyroidism and testicular enlargement and aortic aneurysm, and has symptoms including patent ductus arteriosus, platyspondyly and narrow rib cage/thorax. An important gene associated with Cantu Syndrome is ABCC9 (ATP-binding cassette, sub-family C (CFTR/MRP), member 9). Affiliated tissues include bone and heart.

Wikipedia:63 Cantú syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia and... more...

Description from OMIM:46 239850

Aliases & Classifications for Cantu Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 61UMLS via Orphanet, 26ICD10 via Orphanet, 35MESH via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases, Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

cantu syndrome 42 21
hypertrichotic osteochondrodysplasia 42 20 22 21 46 60
hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome 21
hypertrichotic osteochondrodysplasia, cantu type 48
craniofaciocardioskeletal syndrome 42
cantu's syndrome 60
cantú syndrome 21


External Ids:

UMLS via Orphanet61 C0795905
ICD10 via Orphanet26 Q87.3
OMIM46 239850
MESH via Orphanet35 C535572
SNOMED-CT via Orphanet57 239087008

Related Diseases for Cantu Syndrome

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Sources:
17GeneCards, 18GeneDecks
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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 aneurysm10.0
3craniosynostosis10.0
4hypertension10.0
5hypertrichosis10.0
6osteochondrodysplasia10.0
7hair defect with photosensitivity and mental retardation10.0
8wrinkly skin syndrome10.0
9hair defect - photosensitivity - intellectual deficit10.0

Graphical network of diseases related to Cantu Syndrome:



Diseases related to cantu syndrome

Clinical Features for Cantu Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

239850

Clinical synopsis from OMIM:

239850

Symptoms:

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

Drugs & Therapeutics for Cantu Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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Sources:
20GeneTests, 22GTR
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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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Sources:
32MalaCards
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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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Genetic Variations for Cantu Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Cantu Syndrome:

62 (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

Expression for genes affiliated with Cantu Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cantu Syndrome

Search GEO for disease gene expression data for Cantu Syndrome.

Pathways for genes affiliated with Cantu Syndrome

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Compounds for genes affiliated with Cantu Syndrome

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GO Terms for genes affiliated with Cantu Syndrome

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Products for genes affiliated with Cantu Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet