HTOCD
MCID: HYP622
MIFTS: 37

Hypertrichotic Osteochondrodysplasia (HTOCD) 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 52 48 24 25 70 27 12
Cantu Syndrome 52 48 24 25 70 68
Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome 25
Hypertrichotic Osteochondrodysplasia, Cantu Type 54
 
Craniofaciocardioskeletal Syndrome 48
Cantú Syndrome 25
Htocd 70

Characteristics:

Orphanet epidemiological data:

54
hypertrichotic osteochondrodysplasia, cantu type:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

64
hypertrichotic osteochondrodysplasia:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 239850
Orphanet54 ORPHA1517
MESH via Orphanet40 C535572
UMLS via Orphanet69 C0795905
MedGen37 C0795905

Summaries for Hypertrichotic Osteochondrodysplasia

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OMIM:52 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 Array, Array and Array. 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.

UniProtKB/Swiss-Prot:70 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.

Wikipedia:71 Cantú syndrome (hypertrychotic osteochondrodysplasia) is a rare condition characterized by... more...

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
1hypertrichotic osteochondrodysplasia cantu type12.1
2cantú syndrome and related disorders11.8
3noonan syndrome 39.8ABCC9, KCNJ8
4ritscher-schinzel syndrome 29.8ABCC9, KCNJ8
5cerebellum cancer9.8ABCC9, KCNJ8
6antley-bixler syndrome9.8ABCC9, KCNJ8
7vulvovaginitis9.8ABCC9, KCNJ8
8acute closed-angle glaucoma9.7ABCC9, KCNJ8
9epidermolysis bullosa simplex, koebner type9.7ABCC9, KCNJ8, MUC3A

Graphical network of diseases related to Hypertrichotic Osteochondrodysplasia:



Diseases related to hypertrichotic osteochondrodysplasia

Symptoms & Phenotypes 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:

 54 64 (show all 56)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 wide mouth64 54 Very frequent (99-80%) HP:0000154
2 macrocephaly64 54 Frequent (79-30%) HP:0000256
3 coarse facial features64 54 Very frequent (99-80%) HP:0000280
4 epicanthus64 54 Frequent (79-30%) HP:0000286
5 low anterior hairline64 54 Very frequent (99-80%) HP:0000294
6 prominent supraorbital ridges64 54 Frequent (79-30%) HP:0000336
7 long philtrum64 54 Very frequent (99-80%) HP:0000343
8 wide nasal bridge64 54 Frequent (79-30%) HP:0000431
9 anteverted nares64 54 Frequent (79-30%) HP:0000463
10 short neck64 54 Frequent (79-30%) HP:0000470
11 long eyelashes64 54 Very frequent (99-80%) HP:0000527
12 thick eyebrow64 54 Very frequent (99-80%) HP:0000574
13 narrow chest64 54 Frequent (79-30%) HP:0000774
14 broad ribs64 54 Frequent (79-30%) HP:0000885
15 platyspondyly64 54 Frequent (79-30%) HP:0000926
16 osteoporosis64 54 Frequent (79-30%) HP:0000939
17 abnormality of the metaphyses64 54 Very frequent (99-80%) HP:0000944
18 intellectual disability, mild64 54 Frequent (79-30%) HP:0001256
19 umbilical hernia64 54 Frequent (79-30%) HP:0001537
20 hypertrophic cardiomyopathy64 54 Occasional (29-5%) HP:0001639
21 cardiomegaly64 54 Very frequent (99-80%) HP:0001640
22 patent ductus arteriosus64 54 Frequent (79-30%) HP:0001643
23 abnormality of the heart valves64 54 Occasional (29-5%) HP:0001654
24 deep plantar creases64 54 Frequent (79-30%) HP:0001869
25 low posterior hairline64 54 Very frequent (99-80%) HP:0002162
26 generalized hirsutism64 54 Very frequent (99-80%) HP:0002230
27 skeletal dysplasia64 54 Frequent (79-30%) HP:0002652
28 coxa valga64 54 Very frequent (99-80%) HP:0002673
29 delayed skeletal maturation64 54 Frequent (79-30%) HP:0002750
30 ovoid vertebral bodies64 54 Frequent (79-30%) HP:0003300
31 cuboid-shaped vertebral bodies64 54 Frequent (79-30%) HP:0004634
32 accelerated skeletal maturation64 54 Occasional (29-5%) HP:0005616
33 finger syndactyly64 54 Occasional (29-5%) HP:0006101
34 curly eyelashes64 54 Very frequent (99-80%) HP:0007665
35 short distal phalanx of finger64 54 Frequent (79-30%) HP:0009882
36 broad hallux phalanx64 54 Frequent (79-30%) HP:0010059
37 short hallux64 54 Frequent (79-30%) HP:0010109
38 thick vermilion border64 54 Very frequent (99-80%) HP:0012471
39 thick lower lip vermilion64 HP:0000179
40 gingival overgrowth64 HP:0000212
41 thick upper lip vermilion64 HP:0000215
42 lymphedema64 HP:0001004
43 large for gestational age64 HP:0001520
44 bicuspid aortic valve64 HP:0001647
45 pericardial effusion64 HP:0001698
46 large sella turcica64 HP:0002690
47 metaphyseal widening64 HP:0003016
48 congenital, generalized hypertrichosis64 HP:0004540
49 erlenmeyer flask deformity of the femurs64 HP:0004975
50 congenital hypertrophy of left ventricle64 HP:0005129
51 depressed nasal bridge64 HP:0005280
52 widened posterior fossa64 HP:0005445
53 hypoplastic ischiopubic rami64 HP:0008822
54 broad hallux64 HP:0010055
55 broad first metatarsal64 HP:0010068
56 prominent forehead64 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 Osteochondrodysplasia27 24 ABCC9, KCNJ8

Anatomical Context for Hypertrichotic Osteochondrodysplasia

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MalaCards organs/tissues related to Hypertrichotic Osteochondrodysplasia:

36
Bone, Heart

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:

70 (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
1ABCC9NM_ 005691.3(ABCC9): c.3460C> T (p.Arg1154Trp)SNVPathogenicrs387907208GRCh37Chr 12, 21995261: 21995261
2ABCC9NM_ 020297.3(ABCC9): c.3461G> A (p.Arg1154Gln)SNVPathogenicrs387907209GRCh37Chr 12, 21995260: 21995260
3ABCC9NM_ 005691.3(ABCC9): c.3128G> A (p.Cys1043Tyr)SNVPathogenicrs387907210GRCh37Chr 12, 21997818: 21997818
4ABCC9NM_ 005691.3(ABCC9): c.1433C> T (p.Ala478Val)SNVPathogenicrs387907211GRCh37Chr 12, 22061033: 22061033
5ABCC9NM_ 020297.3(ABCC9): c.3347G> A (p.Arg1116His)SNVPathogenicrs387907227GRCh37Chr 12, 21995374: 21995374
6ABCC9NM_ 005691.3(ABCC9): c.3346C> T (p.Arg1116Cys)SNVPathogenicrs387907228GRCh37Chr 12, 21995375: 21995375
7ABCC9NM_ 005691.3(ABCC9): c.3058T> C (p.Ser1020Pro)SNVPathogenicrs387907229GRCh37Chr 12, 21998575: 21998575
8ABCC9NM_ 005691.3(ABCC9): c.178C> T (p.His60Tyr)SNVPathogenicrs387907230GRCh37Chr 12, 22086822: 22086822
9ABCC9NM_ 005691.3(ABCC9): c.878T> C (p.Phe293Ser)SNVLikely pathogenicrs1057516044GRCh37Chr 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:00082829.6ABCC9, KCNJ8
2sarcolemmaGO:00423839.5ABCC9, KCNJ8
3voltage-gated potassium channel complexGO:00080769.0ABCC9, KCNJ8

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

idNameGO IDScoreTop Affiliating Genes
1defense response to virusGO:00516079.6ABCC9, KCNJ8
2potassium ion importGO:00101079.6ABCC9, KCNJ8
3potassium ion transportGO:00068139.0ABCC9, KCNJ8

Sources for Hypertrichotic Osteochondrodysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet