MCID: HYP622
MIFTS: 34

Hypertrichotic Osteochondrodysplasia malady

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

Aliases & Classifications for Hypertrichotic Osteochondrodysplasia

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Aliases & Descriptions for Hypertrichotic Osteochondrodysplasia:

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

Characteristics:

HPO:

61
hypertrichotic osteochondrodysplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 239850
MedGen34 C0795905
UMLS65 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 abnormality of the hip bone, low posterior hairline and cardiomegaly. 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: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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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 73)
id Description Frequency HPO Source Accession
1 abnormality of the hip bone hallmark (90%) HP:0003272
2 low posterior hairline hallmark (90%) HP:0002162
3 cardiomegaly hallmark (90%) HP:0001640
4 hypertrichosis hallmark (90%) HP:0000998
5 abnormality of the metaphyses hallmark (90%) HP:0000944
6 thick eyebrow hallmark (90%) HP:0000574
7 long philtrum hallmark (90%) HP:0000343
8 low anterior hairline hallmark (90%) HP:0000294
9 coarse facial features hallmark (90%) HP:0000280
10 thick lower lip vermilion hallmark (90%) HP:0000179
11 wide mouth hallmark (90%) HP:0000154
12 cognitive impairment typical (50%) HP:0100543
13 short hallux typical (50%) HP:0010109
14 short distal phalanx of finger typical (50%) HP:0009882
15 reduced bone mineral density typical (50%) HP:0004349
16 abnormality of the shoulder typical (50%) HP:0003043
17 delayed skeletal maturation typical (50%) HP:0002750
18 skeletal dysplasia typical (50%) HP:0002652
19 deep plantar creases typical (50%) HP:0001869
20 preaxial foot polydactyly typical (50%) HP:0001841
21 patent ductus arteriosus typical (50%) HP:0001643
22 umbilical hernia typical (50%) HP:0001537
23 platyspondyly typical (50%) HP:0000926
24 narrow chest typical (50%) HP:0000774
25 abnormality of the ribs typical (50%) HP:0000772
26 short neck typical (50%) HP:0000470
27 anteverted nares typical (50%) HP:0000463
28 prominent supraorbital ridges typical (50%) HP:0000336
29 epicanthus typical (50%) HP:0000286
30 macrocephaly typical (50%) HP:0000256
31 finger syndactyly occasional (7.5%) HP:0006101
32 accelerated skeletal maturation occasional (7.5%) HP:0005616
33 abnormality of the heart valves occasional (7.5%) HP:0001654
34 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
35 prominent forehead HP:0011220
36 short hallux HP:0010109
37 broad first metatarsal HP:0010068
38 broad hallux HP:0010055
39 hypoplastic ischiopubic rami HP:0008822
40 curly eyelashes HP:0007665
41 widened posterior fossa HP:0005445
42 depressed nasal bridge HP:0005280
43 congenital hypertrophy of left ventricle HP:0005129
44 erlenmeyer flask deformity of the femurs HP:0004975
45 cuboid-shaped vertebral bodies HP:0004634
46 congenital, generalized hypertrichosis HP:0004540
47 ovoid vertebral bodies HP:0003300
48 metaphyseal widening HP:0003016
49 delayed skeletal maturation HP:0002750
50 large sella turcica HP:0002690
51 coxa valga HP:0002673
52 pericardial effusion HP:0001698
53 bicuspid aortic valve HP:0001647
54 patent ductus arteriosus HP:0001643
55 cardiomegaly HP:0001640
56 umbilical hernia HP:0001537
57 large for gestational age HP:0001520
58 intellectual disability, mild HP:0001256
59 lymphedema HP:0001004
60 osteoporosis HP:0000939
61 platyspondyly HP:0000926
62 narrow chest HP:0000774
63 long eyelashes HP:0000527
64 short neck HP:0000470
65 anteverted nares HP:0000463
66 wide nasal bridge HP:0000431
67 long philtrum HP:0000343
68 epicanthus HP:0000286
69 coarse facial features HP:0000280
70 macrocephaly HP:0000256
71 thick upper lip vermilion HP:0000215
72 gingival overgrowth HP:0000212
73 thick lower lip vermilion HP:0000179

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 ABCC9, KCNJ8

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
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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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