MCID: HYP622
MIFTS: 38

Hypertrichotic Osteochondrodysplasia malady

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

Summaries for Hypertrichotic Osteochondrodysplasia

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OMIM:45 Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct... (239850) more...

MalaCards based summary: Hypertrichotic Osteochondrodysplasia, also known as cantu syndrome, is related to cantú syndrome and related disorders and hair defect with photosensitivity and mental retardation, and has symptoms including wide mouth, thick lower lip vermilion and coarse facial features. An important gene associated with Hypertrichotic Osteochondrodysplasia 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.

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.

Aliases & Classifications for Hypertrichotic Osteochondrodysplasia

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 22GTR, 60UMLS, 47Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet
See all sources

Hypertrichotic Osteochondrodysplasia, Aliases & Descriptions:

Name: Hypertrichotic Osteochondrodysplasia 45 10 41 20 21 22
Cantu Syndrome 45 41 21 60
Hypertrichotic Osteochondrodysplasia, Cantu Type 41 47
 
Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome 21
Craniofaciocardioskeletal Syndrome 41
Cantú Syndrome 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
hypertrichotic osteochondrodysplasia, cantu type:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal


External Ids:

OMIM45 239850
Orphanet47 1517
UMLS via Orphanet61 C0795905
MESH via Orphanet34 C535572

Related Diseases for Hypertrichotic Osteochondrodysplasia

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Diseases related to Hypertrichotic Osteochondrodysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cantú syndrome and related disorders10.4
2hair defect with photosensitivity and mental retardation10.3
3wrinkly skin syndrome10.1
4pulmonary hypertension10.1
5hypertrichosis10.1
6osteochondrodysplasia10.1

Graphical network of diseases related to Hypertrichotic Osteochondrodysplasia:



Diseases related to hypertrichotic osteochondrodysplasia

Symptoms for Hypertrichotic Osteochondrodysplasia

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Symptoms by clinical synopsis from OMIM:

239850

Clinical features from OMIM:

239850

Symptoms:

 47 (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 Hypertrichotic Osteochondrodysplasia:

(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 Hypertrichotic Osteochondrodysplasia

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Drug clinical trials:

Search ClinicalTrials for Hypertrichotic Osteochondrodysplasia

Search NIH Clinical Center for Hypertrichotic Osteochondrodysplasia

Genetic Tests for Hypertrichotic Osteochondrodysplasia

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Genetic tests related to Hypertrichotic Osteochondrodysplasia:

id Genetic test Affiliating Genes
1 Hypertrichotic Osteochondrodysplasia20 22 ABCC9

Anatomical Context for Hypertrichotic Osteochondrodysplasia

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MalaCards organs/tissues related to Hypertrichotic Osteochondrodysplasia:

31
Bone, Heart

Animal Models for Hypertrichotic Osteochondrodysplasia or affiliated genes

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Publications for Hypertrichotic Osteochondrodysplasia

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Variations for Hypertrichotic Osteochondrodysplasia

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UniProtKB/Swiss-Prot genetic disease variations for Hypertrichotic Osteochondrodysplasia:

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

Clinvar genetic disease variations for Hypertrichotic Osteochondrodysplasia:

6
id Gene Variation 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 Hypertrichotic Osteochondrodysplasia

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Search GEO for disease gene expression data for Hypertrichotic Osteochondrodysplasia.

Pathways for genes affiliated with Hypertrichotic Osteochondrodysplasia

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Compounds for genes affiliated with Hypertrichotic Osteochondrodysplasia

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Compounds related to Hypertrichotic Osteochondrodysplasia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1nicorandil43 2810.3KCNJ8, ABCC9
2cromakalim43 2810.3KCNJ8, ABCC9
3sulfonylurea439.3KCNJ8, ABCC9
4katp439.2KCNJ8, ABCC9
5diazoxide43 59 28 1212.2ABCC9, KCNJ8
6tolbutamide43 28 49 1212.1KCNJ8, ABCC9
7atp43 2810.1KCNJ8, ABCC9
8glibenclamide43 28 49 5912.0KCNJ8, ABCC9
9potassium43 24 1210.8KCNJ8, ABCC9

GO Terms for genes affiliated with Hypertrichotic Osteochondrodysplasia

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Cellular components related to Hypertrichotic Osteochondrodysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:00080769.1KCNJ8, ABCC9
2ATP-sensitive potassium channel complexGO:00082829.0KCNJ8, ABCC9
3sarcolemmaGO:00423838.8KCNJ8, ABCC9

Biological processes related to Hypertrichotic Osteochondrodysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1potassium ion importGO:00101079.1KCNJ8, ABCC9
2synaptic transmissionGO:00072689.1KCNJ8, ABCC9
3potassium ion transportGO:00068139.0KCNJ8, ABCC9
4defense response to virusGO:00516078.8KCNJ8, ABCC9

Molecular functions related to Hypertrichotic Osteochondrodysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:00055249.1KCNJ8, ABCC9

Products for genes affiliated with Hypertrichotic Osteochondrodysplasia

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  • Antibodies
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  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hypertrichotic Osteochondrodysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet