MCID: HYP622
MIFTS: 38

Hypertrichotic Osteochondrodysplasia malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Cardiovascular diseases

Aliases & Classifications for Hypertrichotic Osteochondrodysplasia

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Aliases & Descriptions for Hypertrichotic Osteochondrodysplasia:

Name: Hypertrichotic Osteochondrodysplasia 51 47 24 25 69 26 12
Cantu Syndrome 51 11 47 24 25 69 38 67
Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome 25
Hypertrichotic Osteochondrodysplasia, Cantu Type 53
 
Hypertrichotic Osteochondrodysplasia Cantu Type 11
Craniofaciocardioskeletal Syndrome 47
Cantú Syndrome 25
Htocd 69

Characteristics:

Orphanet epidemiological data:

53
hypertrichotic osteochondrodysplasia, cantu type:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

63
hypertrichotic osteochondrodysplasia:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 239850
Disease Ontology11 DOID:0060569
Orphanet53 ORPHA1517
MESH via Orphanet39 C535572
UMLS via Orphanet68 C0795905
MedGen36 C0795905

Summaries for Hypertrichotic Osteochondrodysplasia

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OMIM:51 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 Subfamily C Member 9), and among its related pathways are Potassium Channels and Inwardly rectifying K+ channels. Affiliated tissues include bone and heart.

Disease Ontology:11 An osteochondrodysplasia characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly.

Genetics Home Reference:25 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:69 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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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

Human phenotypes related to Hypertrichotic Osteochondrodysplasia:

 63 53 (show all 63)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 wide mouth63 53 hallmark (90%) Very frequent (99-80%) HP:0000154
2 thick lower lip vermilion63 hallmark (90%) HP:0000179
3 coarse facial features63 53 hallmark (90%) Very frequent (99-80%) HP:0000280
4 low anterior hairline63 53 hallmark (90%) Very frequent (99-80%) HP:0000294
5 long philtrum63 53 hallmark (90%) Very frequent (99-80%) HP:0000343
6 thick eyebrow63 53 hallmark (90%) Very frequent (99-80%) HP:0000574
7 abnormality of the metaphyses63 53 hallmark (90%) Very frequent (99-80%) HP:0000944
8 hypertrichosis63 hallmark (90%) HP:0000998
9 cardiomegaly63 53 hallmark (90%) Very frequent (99-80%) HP:0001640
10 low posterior hairline63 53 hallmark (90%) Very frequent (99-80%) HP:0002162
11 abnormality of the hip bone63 hallmark (90%) HP:0003272
12 macrocephaly63 53 typical (50%) Frequent (79-30%) HP:0000256
13 epicanthus63 53 typical (50%) Frequent (79-30%) HP:0000286
14 prominent supraorbital ridges63 53 typical (50%) Frequent (79-30%) HP:0000336
15 anteverted nares63 53 typical (50%) Frequent (79-30%) HP:0000463
16 short neck63 53 typical (50%) Frequent (79-30%) HP:0000470
17 abnormality of the ribs63 typical (50%) HP:0000772
18 narrow chest63 53 typical (50%) Frequent (79-30%) HP:0000774
19 platyspondyly63 53 typical (50%) Frequent (79-30%) HP:0000926
20 umbilical hernia63 53 typical (50%) Frequent (79-30%) HP:0001537
21 patent ductus arteriosus63 53 typical (50%) Frequent (79-30%) HP:0001643
22 preaxial foot polydactyly63 typical (50%) HP:0001841
23 deep plantar creases63 53 typical (50%) Frequent (79-30%) HP:0001869
24 skeletal dysplasia63 53 typical (50%) Frequent (79-30%) HP:0002652
25 delayed skeletal maturation63 53 typical (50%) Frequent (79-30%) HP:0002750
26 abnormality of the shoulder63 typical (50%) HP:0003043
27 reduced bone mineral density63 typical (50%) HP:0004349
28 short distal phalanx of finger63 53 typical (50%) Frequent (79-30%) HP:0009882
29 short hallux63 53 typical (50%) Frequent (79-30%) HP:0010109
30 cognitive impairment63 typical (50%) HP:0100543
31 hypertrophic cardiomyopathy63 53 occasional (7.5%) Occasional (29-5%) HP:0001639
32 abnormality of the heart valves63 53 occasional (7.5%) Occasional (29-5%) HP:0001654
33 accelerated skeletal maturation63 53 occasional (7.5%) Occasional (29-5%) HP:0005616
34 finger syndactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0006101
35 gingival overgrowth63 HP:0000212
36 thick upper lip vermilion63 HP:0000215
37 wide nasal bridge63 53 Frequent (79-30%) HP:0000431
38 long eyelashes63 53 Very frequent (99-80%) HP:0000527
39 osteoporosis63 53 Frequent (79-30%) HP:0000939
40 lymphedema63 HP:0001004
41 intellectual disability, mild63 53 Frequent (79-30%) HP:0001256
42 large for gestational age63 HP:0001520
43 bicuspid aortic valve63 HP:0001647
44 pericardial effusion63 HP:0001698
45 coxa valga63 53 Very frequent (99-80%) HP:0002673
46 large sella turcica63 HP:0002690
47 metaphyseal widening63 HP:0003016
48 ovoid vertebral bodies63 53 Frequent (79-30%) HP:0003300
49 congenital, generalized hypertrichosis63 HP:0004540
50 cuboid-shaped vertebral bodies63 53 Frequent (79-30%) HP:0004634
51 erlenmeyer flask deformity of the femurs63 HP:0004975
52 congenital hypertrophy of left ventricle63 HP:0005129
53 depressed nasal bridge63 HP:0005280
54 widened posterior fossa63 HP:0005445
55 curly eyelashes63 53 Very frequent (99-80%) HP:0007665
56 hypoplastic ischiopubic rami63 HP:0008822
57 broad hallux63 HP:0010055
58 broad first metatarsal63 HP:0010068
59 prominent forehead63 HP:0011220
60 broad ribs53 Frequent (79-30%)
61 generalized hirsutism53 Very frequent (99-80%)
62 broad hallux phalanx53 Frequent (79-30%)
63 thick vermilion border53 Very frequent (99-80%)

Drugs & Therapeutics for Hypertrichotic Osteochondrodysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hypertrichotic Osteochondrodysplasia


Cochrane evidence based reviews: cantu syndrome

Genetic Tests for Hypertrichotic Osteochondrodysplasia

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Genetic tests related to Hypertrichotic Osteochondrodysplasia:

id Genetic test Affiliating Genes
1 Hypertrichotic Osteochondrodysplasia26 24 ABCC9, KCNJ8

Anatomical Context for Hypertrichotic Osteochondrodysplasia

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MalaCards organs/tissues related to Hypertrichotic Osteochondrodysplasia:

35
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:

69 (show all 13)
id Symbol AA change Variation ID SNP ID
1ABCC9p.His60TyrVAR_068485rs387907230
2ABCC9p.Asp207GluVAR_068486
3ABCC9p.Gly380CysVAR_068487
4ABCC9p.Pro432LeuVAR_068488
5ABCC9p.Ala478ValVAR_068489rs387907211
6ABCC9p.Ser1020ProVAR_068490rs387907229
7ABCC9p.Phe1039SerVAR_068491
8ABCC9p.Cys1043TyrVAR_068492rs387907210
9ABCC9p.Ser1054TyrVAR_068493
10ABCC9p.Arg1116CysVAR_068494rs387907228
11ABCC9p.Arg1116HisVAR_068495rs387907227
12ABCC9p.Arg1154GlnVAR_068496rs387907209
13ABCC9p.Arg1154TrpVAR_068497rs387907208

Clinvar genetic disease variations for Hypertrichotic Osteochondrodysplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MUC3ANM_005960.1(MUC3A): c.8480C> T (p.Thr2827Ile)SNVPathogenicrs145584597GRCh37Chr 7, 100552388: 100552388
2ABCC9NM_005691.3(ABCC9): c.3460C> T (p.Arg1154Trp)SNVPathogenicrs387907208GRCh37Chr 12, 21995261: 21995261
3ABCC9NM_020297.3(ABCC9): c.3461G> A (p.Arg1154Gln)SNVPathogenicrs387907209GRCh37Chr 12, 21995260: 21995260
4ABCC9NM_005691.3(ABCC9): c.3128G> A (p.Cys1043Tyr)SNVPathogenicrs387907210GRCh37Chr 12, 21997818: 21997818
5ABCC9NM_005691.3(ABCC9): c.1433C> T (p.Ala478Val)SNVPathogenicrs387907211GRCh37Chr 12, 22061033: 22061033
6ABCC9NM_020297.3(ABCC9): c.3347G> A (p.Arg1116His)SNVPathogenicrs387907227GRCh37Chr 12, 21995374: 21995374
7ABCC9NM_005691.3(ABCC9): c.3346C> T (p.Arg1116Cys)SNVPathogenicrs387907228GRCh37Chr 12, 21995375: 21995375
8ABCC9NM_005691.3(ABCC9): c.3058T> C (p.Ser1020Pro)SNVPathogenicrs387907229GRCh37Chr 12, 21998575: 21998575
9ABCC9NM_005691.3(ABCC9): c.178C> T (p.His60Tyr)SNVPathogenicrs387907230GRCh37Chr 12, 22086822: 22086822
10ABCC9NM_005691.3(ABCC9): c.878T> C (p.Phe293Ser)SNVLikely pathogenicGRCh37Chr 12, 22065939: 22065939

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

idNameGO IDScoreTop Affiliating Genes
1ATP-sensitive potassium channel complexGO:00082829.5ABCC9, KCNJ8
2voltage-gated potassium channel complexGO:00080769.0ABCC9, KCNJ8
3sarcolemmaGO:00423838.7ABCC9, KCNJ8

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

idNameGO IDScoreTop Affiliating Genes
1potassium ion importGO:00101079.4ABCC9, KCNJ8
2potassium ion transportGO:00068139.3ABCC9, KCNJ8
3defense response to virusGO:00516079.0ABCC9, KCNJ8

Sources for Hypertrichotic Osteochondrodysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet