CDMD
MCID: SPN209
MIFTS: 25

Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (CDMD) malady

Bone, Metabolic, Fetal categories

Summaries for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Sources:
8Disease Ontology, 21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (congenital). Other bone and joint abnormalities can include an inward- and upward-turning foot (clubfoot), a limited range of motion in large joints, and abnormal curvature of the spine. The features of CHST3-related skeletal dysplasia are usually limited to the bones and joints; however, minor heart defects have been reported in a few affected individuals.

MalaCards: Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations, also known as chst3-related skeletal dysplasia, is related to spondyloepiphyseal dysplasia congenita and x-linked spondyloepiphyseal dysplasia tarda. An important gene associated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations is CHST3 (carbohydrate (chondroitin 6) sulfotransferase 3). Affiliated tissues include heart.

Disease Ontology:8 A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.

Description from OMIM:47 143095

GeneReviews summary for cd-chst3

Aliases & Classifications for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone, Metabolic


Characteristics (Orphanet epidemiological data):

49
chst3-related skeletal dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

spondyloepiphyseal dysplasia with congenital joint dislocations 8 9 22 21 47
chst3-related skeletal dysplasia 8 19 20 21 49
kozlowski celermajer tink syndrome 8 43 61
spondyloepiphyseal dysplasia 8 43 20
humerospinal dysostosis 8 43 20
chondrodysplasia with congenital joint dislocations, chst3 type 19 49
humero-spinal dysostosis with congenital heart disease 8 43
chondrodysplasia with multiple dislocations 8 21
autosomal recessive larsen syndrome 21 49
spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type 49
spondyloepiphyseal dysplasia, omani type 21
larsen syndrome, autosomal recessive 61
sed with luxations, chst3 type 21
humero-spinal dysostosis 21
chst3-related dysplasia 19
chst3 deficiency 19
sdcd, chst3 type 49
sed, omani type 21
omani type 8
cdmd 21


External Ids:

Disease Ontology8 DOID:0050813
OMIM47 143095
ICD10 via Orphanet26 Q74.8

Related Diseases for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Sources:
17GeneCards, 18GeneDecks
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Diseases in the spondyloepiphyseal dysplasia congenita family:

spondyloepiphyseal dysplasia with congenital joint dislocations

Diseases related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1spondyloepiphyseal dysplasia congenita11.0
2x-linked spondyloepiphyseal dysplasia tarda10.8
3pseudoachondroplasia10.6
4osteoarthritis10.5
5spondyloepiphyseal dysplasia maroteaux type10.5
6cortisone reductase deficiency10.5
717-beta-hydroxysteroid dehydrogenase x deficiency10.5
8progressive pseudorheumatoid arthropathy of childhood10.5
9spondyloepiphyseal dysplasia omani type10.5
10arthropathy10.5
11multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects10.4
12schimke immunoosseous dysplasia10.4
13spondyloepiphyseal dysplasia, cantu type10.4
14multiple epiphyseal dysplasia10.4
15spondyloepiphyseal dysplasia tarda autosomal dominant10.4
16spondyloepiphyseal dysplasia tarda toledo type10.4
17spondyloepiphyseal dysplasia, nishimura type10.4
18spondyloepiphyseal dysplasia, macdermot type10.4
19achondroplasia10.3
20spondyloepiphyseal dysplasia-brachydactyly and distinctive speech10.3
21spondyloepiphyseal dysplasia, kimberley type10.3
22spondyloepiphyseal dysplasia, reardon type10.3
23spondyloepiphyseal dysplasia tarda, kohn type10.3
24larsen syndrome10.3
25larsen syndrome, autosomal recessive10.3
26chondrodysplasia10.2
27cleft palate10.2
28leber hereditary optic neuropathy10.2
29kniest dysplasia10.2
30arthritis10.2
31dwarfism10.2
32roifman syndrome10.2
33atlantoaxial subluxation10.2
34diastrophic dysplasia10.1
35rothmund-thomson syndrome10.1
36mucopolysaccharidosis iv10.1
37brachydactyly10.1
38asphyxiating thoracic dystrophy10.1
39juvenile rheumatoid arthritis10.1
40cone dystrophy10.1
41collagenopathy, types ii and xi10.1
42stickler syndrome type 110.1
43brachydactyly type c10.1
44brachydactyly type b10.1
45caudal regression syndrome10.1
46codas syndrome10.1
47dyggve-melchior-clausen syndrome10.1
48dysostosis peripheral10.1
49growth hormone deficiency10.1
50morquio syndrome c10.1

Graphical network of the top 20 diseases related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:



Diseases related to spondyloepiphyseal dysplasia with congenital joint dislocations

Clinical Features for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Sources:
47OMIM
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Clinical features from OMIM:

143095

Clinical synopsis from OMIM:

143095

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Drug clinical trials:

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Genetic Tests for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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20GeneTests, 22GTR
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Genetic tests related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

id Genetic test Affiliating Genes
1 Chst3-related Skeletal Dysplasia20 CHST3
2 Humerospinal Dysostosis20 CHST3
3 Spondyloepiphyseal Dysplasia20 COL2A1
4 Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations22

Anatomical Context for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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33MalaCards
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MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

33
Heart

Animal Models for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Genetic Variations for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

63
id Symbol AA change Variation SNP ID
1CHST3p.Arg304GlnVAR_021413rs28937593
2CHST3p.Arg222TrpVAR_047856
3CHST3p.Leu259ProVAR_047857
4CHST3p.Leu307ProVAR_047858
5CHST3p.Glu372LysVAR_047859

Expression for genes affiliated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations.

Pathways for genes affiliated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Compounds for genes affiliated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

GO Terms for genes affiliated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Products for genes affiliated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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Sources for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet