CDMD
MCID: SPN209
MIFTS: 36

Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (CDMD) malady

Bone diseases, Metabolic diseases, Fetal diseases categories

Summaries for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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8Disease Ontology, 21Genetics Home Reference, 46OMIM, 19GeneReviews, 32MalaCards
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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 and bone.

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:46 143095

GeneReviews summary for cd-chst3

Aliases & Classifications for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46
chst3-related skeletal dysplasia 8 19 20 21 48
kozlowski celermajer tink syndrome 8 42 60
spondyloepiphyseal dysplasia 8 42 20
humerospinal dysostosis 8 42 20
chondrodysplasia with congenital joint dislocations, chst3 type 19 48
humero-spinal dysostosis with congenital heart disease 8 42
chondrodysplasia with multiple dislocations 8 21
autosomal recessive larsen syndrome 21 48
spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type 48
spondyloepiphyseal dysplasia, omani type 21
larsen syndrome, autosomal recessive 60
sed with luxations, chst3 type 21
humero-spinal dysostosis 21
chst3-related dysplasia 19
chst3 deficiency 19
sdcd, chst3 type 48
sed, omani type 21
omani type 8
cdmd 21


External Ids:

Disease Ontology8 DOID:0050813
OMIM46 143095
ICD10 via Orphanet26 Q74.8

Related Diseases for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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17GeneCards, 18GeneDecks
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Diseases related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1spondyloepiphyseal dysplasia congenita11.0
2x-linked spondyloepiphyseal dysplasia tarda10.8
3pseudoachondroplasia10.5
4cortisone reductase deficiency10.5
517-beta-hydroxysteroid dehydrogenase x deficiency10.5
6osteoarthritis10.5
7progressive pseudorheumatoid arthropathy of childhood10.5
8spondyloepiphyseal dysplasia maroteaux type10.5
9arthropathy10.4
10spondyloepiphyseal dysplasia, cantu type10.4
11multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects10.4
12schimke immunoosseous dysplasia10.4
13spondyloepiphyseal dysplasia, nishimura type10.4
14spondyloepiphyseal dysplasia, macdermot type10.4
15larsen syndrome, autosomal recessive10.4
16multiple epiphyseal dysplasia10.3
17spondyloepiphyseal dysplasia tarda autosomal dominant10.3
18spondyloepiphyseal dysplasia tarda toledo type10.3
19spondyloepiphyseal dysplasia omani type10.3
20spondyloepiphyseal dysplasia, kimberley type10.3
21spondyloepiphyseal dysplasia, reardon type10.3
22spondyloepiphyseal dysplasia tarda, kohn type10.3
23achondroplasia10.3
24kniest dysplasia10.3
25spondyloepiphyseal dysplasia-brachydactyly and distinctive speech10.3
26larsen syndrome10.3
27craniosynostosis10.3
28cleft palate10.2
29leber hereditary optic neuropathy10.2
30arthritis10.2
31hypertension10.2
32neuropathy10.2
33dwarfism10.2
34roifman syndrome10.2
35osteoarthritis with mild chondrodysplasia10.2
36diastrophic dysplasia10.0
37rothmund-thomson syndrome10.0
38mucopolysaccharidosis iv10.0
39spondyloepimetaphyseal dysplasia, sponastrime type10.0
40brachydactyly10.0
41cone-rod dystrophy10.0
42asphyxiating thoracic dystrophy10.0
43anauxetic dysplasia10.0
44juvenile rheumatoid arthritis10.0
45spondyloepimetaphyseal dysplasia, missouri type10.0
46otospondylomegaepiphyseal dysplasia10.0
47spondyloepimetaphyseal dysplasia, strudwick type10.0
48schneckenbecken dysplasia10.0
49cone dystrophy10.0
50dysostosis10.0

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

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46OMIM
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Clinical features from OMIM:

143095

Clinical synopsis from OMIM:

143095

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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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32MalaCards
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MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

32
Heart, Bone

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

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Publications for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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Genetic Variations for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

62
id Symbol AA change Variation ID 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

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

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Pathways for genes affiliated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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Compounds for genes affiliated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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

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Products for genes affiliated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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Sources for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet