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 50 46 23 24 68 25 12
Cantu Syndrome 50 46 23 24 68 66
Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome 24
Hypertrichotic Osteochondrodysplasia, Cantu Type 52
 
Craniofaciocardioskeletal Syndrome 46
Cantú Syndrome 24
Htocd 68

Characteristics:

Orphanet epidemiological data:

52
hypertrichotic osteochondrodysplasia, cantu type:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

62
hypertrichotic osteochondrodysplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 239850
Orphanet52 ORPHA1517
MESH via Orphanet38 C535572
UMLS via Orphanet67 C0795905
MedGen35 C0795905

Summaries for Hypertrichotic Osteochondrodysplasia

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OMIM:50 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 Subfamily C Member 9), and among its related pathways are Transmission across Chemical Synapses and Potassium Channels. Affiliated tissues include bone and heart.

Genetics Home Reference:24 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:68 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

Symptoms:

 52 (show all 38)
  • wide mouth
  • macrocephaly
  • coarse facial features
  • epicanthus
  • low anterior hairline
  • prominent supraorbital ridges
  • long philtrum
  • wide nasal bridge
  • anteverted nares
  • short neck
  • long eyelashes
  • thick eyebrow
  • narrow chest
  • broad ribs
  • platyspondyly
  • osteoporosis
  • abnormality of the metaphyses
  • intellectual disability, mild
  • umbilical hernia
  • hypertrophic cardiomyopathy
  • cardiomegaly
  • patent ductus arteriosus
  • abnormality of the heart valves
  • deep plantar creases
  • low posterior hairline
  • generalized hirsutism
  • skeletal dysplasia
  • coxa valga
  • delayed skeletal maturation
  • ovoid vertebral bodies
  • cuboid-shaped vertebral bodies
  • accelerated skeletal maturation
  • finger syndactyly
  • curly eyelashes
  • short distal phalanx of finger
  • broad hallux phalanx
  • short hallux
  • thick vermilion border

HPO human phenotypes related to Hypertrichotic Osteochondrodysplasia:

(show all 73)
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 thick lower lip vermilion HP:0000179
36 gingival overgrowth HP:0000212
37 thick upper lip vermilion HP:0000215
38 macrocephaly HP:0000256
39 coarse facial features HP:0000280
40 epicanthus HP:0000286
41 long philtrum HP:0000343
42 wide nasal bridge HP:0000431
43 anteverted nares HP:0000463
44 short neck HP:0000470
45 long eyelashes HP:0000527
46 narrow chest HP:0000774
47 platyspondyly HP:0000926
48 osteoporosis HP:0000939
49 lymphedema HP:0001004
50 intellectual disability, mild HP:0001256
51 large for gestational age HP:0001520
52 umbilical hernia HP:0001537
53 cardiomegaly HP:0001640
54 patent ductus arteriosus HP:0001643
55 bicuspid aortic valve HP:0001647
56 pericardial effusion HP:0001698
57 coxa valga HP:0002673
58 large sella turcica HP:0002690
59 delayed skeletal maturation HP:0002750
60 metaphyseal widening HP:0003016
61 ovoid vertebral bodies HP:0003300
62 congenital, generalized hypertrichosis HP:0004540
63 cuboid-shaped vertebral bodies HP:0004634
64 erlenmeyer flask deformity of the femurs HP:0004975
65 congenital hypertrophy of left ventricle HP:0005129
66 depressed nasal bridge HP:0005280
67 widened posterior fossa HP:0005445
68 curly eyelashes HP:0007665
69 hypoplastic ischiopubic rami HP:0008822
70 broad hallux HP:0010055
71 broad first metatarsal HP:0010068
72 short hallux HP:0010109
73 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 Osteochondrodysplasia25 23 ABCC9, KCNJ8

Anatomical Context for Hypertrichotic Osteochondrodysplasia

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MalaCards organs/tissues related to Hypertrichotic Osteochondrodysplasia:

34
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:

68 (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)single nucleotide variantPathogenicrs145584597GRCh37Chr 7, 100552388: 100552388
2ABCC9NM_005691.3(ABCC9): c.3460C> T (p.Arg1154Trp)single nucleotide variantPathogenicrs387907208GRCh37Chr 12, 21995261: 21995261
3ABCC9NM_005691.3(ABCC9): c.3461G> A (p.Arg1154Gln)single nucleotide variantPathogenicrs387907209GRCh37Chr 12, 21995260: 21995260
4ABCC9NM_005691.3(ABCC9): c.3128G> A (p.Cys1043Tyr)single nucleotide variantPathogenicrs387907210GRCh37Chr 12, 21997818: 21997818
5ABCC9NM_005691.3(ABCC9): c.1433C> T (p.Ala478Val)single nucleotide variantPathogenicrs387907211GRCh37Chr 12, 22061033: 22061033
6ABCC9NM_020297.3(ABCC9): c.3347G> A (p.Arg1116His)single nucleotide variantPathogenicrs387907227GRCh37Chr 12, 21995374: 21995374
7ABCC9NM_005691.3(ABCC9): c.3346C> T (p.Arg1116Cys)single nucleotide variantPathogenicrs387907228GRCh37Chr 12, 21995375: 21995375
8ABCC9NM_005691.3(ABCC9): c.3058T> C (p.Ser1020Pro)single nucleotide variantPathogenicrs387907229GRCh37Chr 12, 21998575: 21998575
9ABCC9NM_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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Cellular components related to Hypertrichotic Osteochondrodysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATP-sensitive potassium channel complexGO:00082829.7ABCC9, KCNJ8
2voltage-gated potassium channel complexGO:00080769.1ABCC9, KCNJ8
3sarcolemmaGO:00423839.0ABCC9, KCNJ8

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

idNameGO IDScoreTop Affiliating Genes
1potassium ion importGO:00101079.5ABCC9, KCNJ8
2potassium ion transportGO:00068139.4ABCC9, KCNJ8
3defense response to virusGO:00516079.1ABCC9, KCNJ8

Sources for Hypertrichotic Osteochondrodysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet