CDMD
MCID: SPN209
MIFTS: 34

Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (CDMD) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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9Disease Ontology, 22Genetics Home Reference, 48OMIM, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 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:9 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:48 143095

GeneReviews summary for cd-chst3

Aliases & Classifications for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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9Disease Ontology, 10diseasecard, 23GTR, 22Genetics Home Reference, 48OMIM, 44NIH Rare Diseases, 21GeneTests, 63UMLS, 20GeneReviews, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
chst3-related skeletal dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

spondyloepiphyseal dysplasia with congenital joint dislocations 9 10 23 22 48
chst3-related skeletal dysplasia 9 20 21 22 50
kozlowski celermajer tink syndrome 9 44 63
spondyloepiphyseal dysplasia 9 44 21
humerospinal dysostosis 9 44 21
chondrodysplasia with congenital joint dislocations, chst3 type 20 50
humero-spinal dysostosis with congenital heart disease 9 44
chondrodysplasia with multiple dislocations 9 22
autosomal recessive larsen syndrome 22 50
spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type 50
spondyloepiphyseal dysplasia, omani type 22
larsen syndrome, autosomal recessive 63
sed with luxations, chst3 type 22
humero-spinal dysostosis 22
chst3-related dysplasia 20
chst3 deficiency 20
sdcd, chst3 type 50
sed, omani type 22
omani type 9
cdmd 22


External Ids:

Disease Ontology9 DOID:0050813
OMIM48 143095
ICD10 via Orphanet27 Q74.8

Related Diseases for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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18GeneCards, 19GeneDecks
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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 96)
idRelated DiseaseScoreTop Affiliating Genes
1spondyloepiphyseal dysplasia congenita11.0
2x-linked spondyloepiphyseal dysplasia tarda10.9
3pseudoachondroplasia10.6
4progressive pseudorheumatoid arthropathy of childhood10.6
5spondyloepiphyseal dysplasia maroteaux type10.5
6cortisone reductase deficiency10.5
717-beta-hydroxysteroid dehydrogenase x deficiency10.5
8osteoarthritis10.5
9congenital heart disease10.5
10arthropathy10.5
11spondyloepiphyseal dysplasia omani type10.5
12spondyloepiphyseal dysplasia, cantu type10.5
13multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects10.4
14schimke immunoosseous dysplasia10.4
15spondyloepiphyseal dysplasia, nishimura type10.4
16spondyloepiphyseal dysplasia, macdermot type10.4
17multiple epiphyseal dysplasia10.4
18spondyloepiphyseal dysplasia tarda autosomal dominant10.4
19spondyloepiphyseal dysplasia tarda toledo type10.4
20spondyloepiphyseal dysplasia, kimberley type10.4
21spondyloepiphyseal dysplasia, reardon type10.4
22spondyloepiphyseal dysplasia tarda, kohn type10.4
23achondroplasia10.3
24nephrotic syndrome10.3
25spondyloepiphyseal dysplasia-brachydactyly and distinctive speech10.3
26larsen syndrome10.3
27craniosynostosis10.3
28larsen syndrome, autosomal recessive10.3
29chondrodysplasia10.2
30cleft palate10.2
31leber hereditary optic neuropathy10.2
32kniest dysplasia10.2
33arthritis10.2
34cervicitis10.2
35hypertension10.2
36neuropathy10.2
37dwarfism10.2
38dyggve-melchior-clausen syndrome10.2
39roifman syndrome10.2
40skeletal dysplasias10.2
41osteoarthritis with mild chondrodysplasia10.2
42atlantoaxial subluxation10.2
43rothmund-thomson syndrome10.1
44juvenile rheumatoid arthritis10.1
45mucopolysaccharidosis iv10.1
46spondyloepimetaphyseal dysplasia, sponastrime type10.1
47brachydactyly10.1
48cone-rod dystrophy10.1
49asphyxiating thoracic dystrophy10.1
50anauxetic dysplasia10.1

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



Diseases related to spondyloepiphyseal dysplasia with congenital joint dislocations

Symptoms for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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48OMIM
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Symptoms by clinical synopsis from OMIM:

143095

Clinical features from OMIM:

143095

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests, 23GTR
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Genetic tests related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

id Genetic test Affiliating Genes
1 Chst3-Related Skeletal Dysplasia21 CHST3
2 Humerospinal Dysostosis21 CHST3
3 Spondyloepiphyseal Dysplasia21 COL2A1
4 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations23

Anatomical Context for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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34MalaCards
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MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

34
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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Variations for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

65
id Symbol AA change Variation ID SNP ID
1CHST3p.Arg304GlnVAR_021413rs28937593
2CHST3p.Arg222TrpVAR_047856
3CHST3p.Leu259ProVAR_047857
4CHST3p.Leu307ProVAR_047858
5CHST3p.Glu372LysVAR_047859

Clinvar genetic disease variations for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1CHST3NM_004273.4(CHST3): c.911G> A (p.Arg304Gln)single nucleotide variantPathogenicrs28937593GRCh37Chr 10, 73767700: 73767700
2CHST3NM_004273.4(CHST3): c.776T> C (p.Leu259Pro)single nucleotide variantPathogenicrs121908616GRCh37Chr 10, 73767565: 73767565
3CHST3NM_004273.4(CHST3): c.1114G> A (p.Glu372Lys)single nucleotide variantPathogenicrs267606734GRCh37Chr 10, 73767903: 73767903
4CHST3NM_004273.4(CHST3): c.664C> T (p.Arg222Trp)single nucleotide variantPathogenicrs121908617GRCh37Chr 10, 73767453: 73767453
5CHST3NM_004273.4(CHST3): c.920T> C (p.Leu307Pro)single nucleotide variantPathogenicrs121908618GRCh37Chr 10, 73767709: 73767709
6CHST3CHST3, 1-BP DEL, 1086GdeletionPathogenic
7CHST3NM_004273.4(CHST3): c.603C> A (p.Tyr201Ter)single nucleotide variantPathogenicrs121908619GRCh37Chr 10, 73767392: 73767392
8CHST3NM_004273.4(CHST3): c.857T> C (p.Leu286Pro)single nucleotide variantPathogenicrs121908620GRCh37Chr 10, 73767646: 73767646
9CHST3NM_004273.4(CHST3): c.422C> T (p.Thr141Met)single nucleotide variantPathogenicrs267606735GRCh37Chr 10, 73767211: 73767211
10CHST3NM_004273.4(CHST3): c.475T> A (p.Phe159Ile)single nucleotide variantPathogenicrs145538723GRCh37Chr 10, 73767264: 73767264
11CHST3NM_004273.4(CHST3): c.481C> T (p.Leu161Phe)single nucleotide variantPathogenicrs267606733GRCh37Chr 10, 73767270: 73767270
12CHST3NM_004273.4(CHST3): c.988C> T (p.Gln330Ter)single nucleotide variantPathogenicrs267606732GRCh37Chr 10, 73767777: 73767777

Expression for genes affiliated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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2BioGPS, 16Gene 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

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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet