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

Aliases & Descriptions for Hypertrichotic Osteochondrodysplasia:

Name: Hypertrichotic Osteochondrodysplasia 54 50 24 25 66 29 13
Cantu Syndrome 54 50 24 25 66 69
Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome 25
Hypertrichotic Osteochondrodysplasia, Cantu Type 56
Craniofaciocardioskeletal Syndrome 50
Cantú Syndrome 25
Htocd 66

Characteristics:

Orphanet epidemiological data:

56
hypertrichotic osteochondrodysplasia, cantu type
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

HPO:

32
hypertrichotic osteochondrodysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 239850
Orphanet 56 ORPHA1517
MESH via Orphanet 43 C535572
UMLS via Orphanet 70 C0795905
MedGen 40 C0795905

Summaries for Hypertrichotic Osteochondrodysplasia

OMIM : 54 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 macrocephaly, short neck and finger syndactyly. An important gene associated with Hypertrichotic Osteochondrodysplasia is ABCC9 (ATP Binding Cassette Subfamily C Member 9), and among its related pathways/superpathways are Potassium Channels and Inwardly rectifying K+ channels. Affiliated tissues include bone and heart.

UniProtKB/Swiss-Prot : 66 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

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

id Related Disease Score Top Affiliating Genes
1 hypertrichotic osteochondrodysplasia cantu type 12.1
2 cantú syndrome and related disorders 11.8
3 noonan syndrome 3 9.8 ABCC9 KCNJ8
4 ritscher-schinzel syndrome 2 9.8 ABCC9 KCNJ8
5 cerebellum cancer 9.8 ABCC9 KCNJ8
6 antley-bixler syndrome 9.8 ABCC9 KCNJ8
7 vulvovaginitis 9.8 ABCC9 KCNJ8
8 acute closed-angle glaucoma 9.7 ABCC9 KCNJ8
9 epidermolysis bullosa simplex, koebner type 9.7 ABCC9 KCNJ8 MUC3A

Graphical network of the top 20 diseases related to Hypertrichotic Osteochondrodysplasia:



Diseases related to Hypertrichotic Osteochondrodysplasia

Symptoms & Phenotypes for Hypertrichotic Osteochondrodysplasia

Symptoms by clinical synopsis from OMIM:

239850

Clinical features from OMIM:

239850

Human phenotypes related to Hypertrichotic Osteochondrodysplasia:

56 32 (show top 50) (show all 56)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 56 32 Frequent (79-30%) HP:0000256
2 short neck 56 32 Frequent (79-30%) HP:0000470
3 finger syndactyly 56 32 Occasional (29-5%) HP:0006101
4 coarse facial features 56 32 Very frequent (99-80%) HP:0000280
5 prominent supraorbital ridges 56 32 Frequent (79-30%) HP:0000336
6 skeletal dysplasia 56 32 Frequent (79-30%) HP:0002652
7 delayed skeletal maturation 56 32 Frequent (79-30%) HP:0002750
8 wide nasal bridge 56 32 Frequent (79-30%) HP:0000431
9 umbilical hernia 56 32 Frequent (79-30%) HP:0001537
10 thick vermilion border 56 32 Very frequent (99-80%) HP:0012471
11 anteverted nares 56 32 Frequent (79-30%) HP:0000463
12 thick eyebrow 56 32 Very frequent (99-80%) HP:0000574
13 broad hallux phalanx 56 32 Frequent (79-30%) HP:0010059
14 intellectual disability, mild 56 32 Frequent (79-30%) HP:0001256
15 osteoporosis 56 32 Frequent (79-30%) HP:0000939
16 cardiomegaly 56 32 Very frequent (99-80%) HP:0001640
17 hypertrophic cardiomyopathy 56 32 Occasional (29-5%) HP:0001639
18 long philtrum 56 32 Very frequent (99-80%) HP:0000343
19 broad ribs 56 32 Frequent (79-30%) HP:0000885
20 abnormality of the metaphyses 56 32 Very frequent (99-80%) HP:0000944
21 abnormality of the heart valves 56 32 Occasional (29-5%) HP:0001654
22 ovoid vertebral bodies 56 32 Frequent (79-30%) HP:0003300
23 narrow chest 56 32 Frequent (79-30%) HP:0000774
24 platyspondyly 56 32 Frequent (79-30%) HP:0000926
25 patent ductus arteriosus 56 32 Frequent (79-30%) HP:0001643
26 coxa valga 56 32 Very frequent (99-80%) HP:0002673
27 epicanthus 56 32 Frequent (79-30%) HP:0000286
28 generalized hirsutism 56 32 Very frequent (99-80%) HP:0002230
29 low posterior hairline 56 32 Very frequent (99-80%) HP:0002162
30 wide mouth 56 32 Very frequent (99-80%) HP:0000154
31 low anterior hairline 56 32 Very frequent (99-80%) HP:0000294
32 short distal phalanx of finger 56 32 Frequent (79-30%) HP:0009882
33 long eyelashes 56 32 Very frequent (99-80%) HP:0000527
34 short hallux 56 32 Frequent (79-30%) HP:0010109
35 accelerated skeletal maturation 56 32 Occasional (29-5%) HP:0005616
36 curly eyelashes 56 32 Very frequent (99-80%) HP:0007665
37 deep plantar creases 56 32 Frequent (79-30%) HP:0001869
38 cuboid-shaped vertebral bodies 56 32 Frequent (79-30%) HP:0004634
39 gingival overgrowth 32 HP:0000212
40 depressed nasal bridge 32 HP:0005280
41 prominent forehead 32 HP:0011220
42 thick lower lip vermilion 32 HP:0000179
43 lymphedema 32 HP:0001004
44 bicuspid aortic valve 32 HP:0001647
45 thick upper lip vermilion 32 HP:0000215
46 large for gestational age 32 HP:0001520
47 metaphyseal widening 32 HP:0003016
48 broad hallux 32 HP:0010055
49 pericardial effusion 32 HP:0001698
50 erlenmeyer flask deformity of the femurs 32 HP:0004975

Drugs & Therapeutics for Hypertrichotic Osteochondrodysplasia

Search Clinical Trials , NIH Clinical Center for Hypertrichotic Osteochondrodysplasia

Genetic Tests for Hypertrichotic Osteochondrodysplasia

Genetic tests related to Hypertrichotic Osteochondrodysplasia:

id Genetic test Affiliating Genes
1 Hypertrichotic Osteochondrodysplasia 29 24 ABCC9 KCNJ8

Anatomical Context for Hypertrichotic Osteochondrodysplasia

MalaCards organs/tissues related to Hypertrichotic Osteochondrodysplasia:

39
Bone, Heart

Publications for Hypertrichotic Osteochondrodysplasia

Variations for Hypertrichotic Osteochondrodysplasia

UniProtKB/Swiss-Prot genetic disease variations for Hypertrichotic Osteochondrodysplasia:

66 (show all 13)
id Symbol AA change Variation ID SNP ID
1 ABCC9 p.His60Tyr VAR_068485 rs387907230
2 ABCC9 p.Asp207Glu VAR_068486
3 ABCC9 p.Gly380Cys VAR_068487
4 ABCC9 p.Pro432Leu VAR_068488
5 ABCC9 p.Ala478Val VAR_068489 rs387907211
6 ABCC9 p.Ser1020Pro VAR_068490 rs387907229
7 ABCC9 p.Phe1039Ser VAR_068491
8 ABCC9 p.Cys1043Tyr VAR_068492 rs387907210
9 ABCC9 p.Ser1054Tyr VAR_068493
10 ABCC9 p.Arg1116Cys VAR_068494 rs387907228
11 ABCC9 p.Arg1116His VAR_068495 rs387907227
12 ABCC9 p.Arg1154Gln VAR_068496 rs387907209
13 ABCC9 p.Arg1154Trp VAR_068497 rs387907208

ClinVar genetic disease variations for Hypertrichotic Osteochondrodysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ABCC9 NM_005691.3(ABCC9): c.3460C> T (p.Arg1154Trp) single nucleotide variant Pathogenic rs387907208 GRCh37 Chromosome 12, 21995261: 21995261
2 ABCC9 NM_020297.3(ABCC9): c.3461G> A (p.Arg1154Gln) single nucleotide variant Pathogenic rs387907209 GRCh37 Chromosome 12, 21995260: 21995260
3 ABCC9 NM_005691.3(ABCC9): c.3128G> A (p.Cys1043Tyr) single nucleotide variant Pathogenic rs387907210 GRCh37 Chromosome 12, 21997818: 21997818
4 ABCC9 NM_005691.3(ABCC9): c.1433C> T (p.Ala478Val) single nucleotide variant Pathogenic rs387907211 GRCh37 Chromosome 12, 22061033: 22061033
5 ABCC9 NM_020297.3(ABCC9): c.3347G> A (p.Arg1116His) single nucleotide variant Pathogenic rs387907227 GRCh37 Chromosome 12, 21995374: 21995374
6 ABCC9 NM_005691.3(ABCC9): c.3346C> T (p.Arg1116Cys) single nucleotide variant Pathogenic rs387907228 GRCh37 Chromosome 12, 21995375: 21995375
7 ABCC9 NM_005691.3(ABCC9): c.3058T> C (p.Ser1020Pro) single nucleotide variant Pathogenic rs387907229 GRCh37 Chromosome 12, 21998575: 21998575
8 ABCC9 NM_005691.3(ABCC9): c.178C> T (p.His60Tyr) single nucleotide variant Pathogenic rs387907230 GRCh37 Chromosome 12, 22086822: 22086822
9 ABCC9 NM_005691.3(ABCC9): c.878T> C (p.Phe293Ser) single nucleotide variant Likely pathogenic rs1057516044 GRCh37 Chromosome 12, 22065939: 22065939

Expression for Hypertrichotic Osteochondrodysplasia

Search GEO for disease gene expression data for Hypertrichotic Osteochondrodysplasia.

Pathways for Hypertrichotic Osteochondrodysplasia

GO Terms for Hypertrichotic Osteochondrodysplasia

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

id Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.16 ABCC9 KCNJ8
2 voltage-gated potassium channel complex GO:0008076 8.96 ABCC9 KCNJ8
3 ATP-sensitive potassium channel complex GO:0008282 8.62 ABCC9 KCNJ8

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

id Name GO ID Score Top Affiliating Genes
1 defense response to virus GO:0051607 9.16 ABCC9 KCNJ8
2 potassium ion transport GO:0006813 8.96 ABCC9 KCNJ8
3 potassium ion import GO:0010107 8.62 ABCC9 KCNJ8

Sources for Hypertrichotic Osteochondrodysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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