MCID: HYP622
MIFTS: 32

Hypertrichotic Osteochondrodysplasia malady

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

Aliases & Classifications for Hypertrichotic Osteochondrodysplasia

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Aliases & Descriptions for Hypertrichotic Osteochondrodysplasia:

Name: Hypertrichotic Osteochondrodysplasia 49 11 45 22 23 24 67
Cantu Syndrome 45 22 23 65 67
Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome 23
 
Craniofaciocardioskeletal Syndrome 45
Cantú Syndrome 23
Htocd 67


Classifications:



External Ids:

OMIM49 239850
MedGen34 C0795905

Summaries for Hypertrichotic Osteochondrodysplasia

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OMIM:49 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 hypertrichotic osteochondrodysplasia, cantu type and cantú syndrome and related disorders, 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). Affiliated tissues include bone and heart.

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 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.

Related Diseases for Hypertrichotic Osteochondrodysplasia

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1hypertrichotic osteochondrodysplasia, cantu type10.5
2cantú syndrome and related disorders10.4
3wrinkly skin syndrome10.1
4pulmonary hypertension10.1
5craniosynostosis10.1
6aortic aneurysm10.1
7hypertrichosis10.1
8osteochondrodysplasia10.1
9hair defect with photosensitivity and mental retardation10.1
10aneurysm10.1
11hair defect - photosensitivity - intellectual disability10.1

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

HPO human phenotypes related to Hypertrichotic Osteochondrodysplasia:

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

Drugs & Therapeutics for Hypertrichotic Osteochondrodysplasia

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Interventional clinical trials:

Search ClinicalTrials, 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 Osteochondrodysplasia22 24 ABCC9

Anatomical Context for Hypertrichotic Osteochondrodysplasia

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MalaCards organs/tissues related to Hypertrichotic Osteochondrodysplasia:

33
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:

67 (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:

5
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_020297.3(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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GO Terms for genes affiliated with Hypertrichotic Osteochondrodysplasia

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Sources for Hypertrichotic Osteochondrodysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet