CDMD
MCID: SPN209
MIFTS: 36

Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (CDMD) malady

Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal diseases categories
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Summaries for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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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 based summary: 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, and has symptoms including 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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Sources:
8Disease Ontology, 9diseasecard, 22GTR, 21Genetics Home Reference, 46OMIM, 62UMLS, 42NIH Rare Diseases, 20GeneTests, 48Orphanet, 19GeneReviews, 26ICD10 via Orphanet, 35MESH via Orphanet, 63UMLS via Orphanet
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Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations, Aliases & Descriptions:

Name: Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 8 9 22 21 46 62
Chst3-Related Skeletal Dysplasia 8 19 20 21 48 62
Humerospinal Dysostosis 8 42 20 48
Humero-Spinal Dysostosis with Congenital Heart Disease 8 42 62
Chondrodysplasia with Multiple Dislocations 8 21 62
Kozlowski Celermajer Tink Syndrome 8 42 62
Spondyloepiphyseal Dysplasia 8 42 20
Humero-Spinal Dysostosis 21 48 62
Chondrodysplasia with Congenital Joint Dislocations, Chst3 Type 19 48
Spondyloepiphyseal Dysplasia, Omani Type 21 48
Autosomal Recessive Larsen Syndrome 21 48
 
Spondyloepiphyseal Dysplasia with Congenital Joint Dyslocations, Chst3 Type 48
Larsen Syndrome, Autosomal Recessive 62
Sed with Luxations, Chst3 Type 21
Spondylo-Epiphyseal Dysplasia 62
Chst3-Related Dysplasia 19
Sdcd, Chst3 Type 48
Chst3 Deficiency 19
Sed, Omani Type 21
Omani Type 8
Cdmd 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
chst3-related skeletal dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:0050813
OMIM46 143095
ICD10 via Orphanet26 Q74.8
MESH via Orphanet35 C535789
UMLS via Orphanet63 C1837657

Related Diseases for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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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 congenita11.1
2x-linked spondyloepiphyseal dysplasia tarda11.0
3pseudoachondroplasia10.6
4progressive pseudorheumatoid arthropathy of childhood10.6
5cortisone reductase deficiency10.6
6spondyloepiphyseal dysplasia maroteaux type10.6
7osteoarthritis10.5
8spondyloepiphyseal dysplasia omani type10.5
9congenital heart disease10.5
10arthropathy10.5
11multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects10.4
12schimke immunoosseous dysplasia10.4
13spondyloepiphyseal dysplasia tarda autosomal dominant10.4
14spondyloepiphyseal dysplasia, nishimura type10.4
15spondyloepiphyseal dysplasia, cantu type10.4
16spondyloepiphyseal dysplasia, macdermot type10.4
17multiple epiphyseal dysplasia10.4
18spondyloepiphyseal dysplasia tarda toledo type10.4
19spondyloepiphyseal dysplasia, kimberley type10.4
20spondyloepiphyseal dysplasia, byers 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
26craniosynostosis10.3
27larsen syndrome10.3
28larsen syndrome, autosomal recessive10.3
29chondrodysplasia10.3
30arthritis10.2
31hypertension10.2
32pulmonary hypertension10.2
33cleft palate10.2
34leber hereditary optic neuropathy10.2
35kniest dysplasia10.2
36cervicitis10.2
37neuropathy10.2
38dwarfism10.2
39dyggve-melchior-clausen syndrome10.2
40pseudoachondroplastic dysplasia 210.2
41roifman syndrome10.2
42skeletal dysplasias10.2
43osteoarthritis with mild chondrodysplasia10.2
44atlantoaxial subluxation10.2
45cone-rod dystrophy10.1
46rheumatoid arthritis10.1
47rothmund-thomson syndrome10.1
48diastrophic dysplasia10.1
49juvenile rheumatoid arthritis10.1
50spondyloepimetaphyseal dysplasia, sponastrime type10.1

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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Symptoms by clinical synopsis from OMIM:

143095

Clinical features from OMIM:

143095

HPO human phenotypes related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

(show all 65)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 high palate HP:0000218
4 hypertelorism HP:0000316
5 broad forehead HP:0000337
6 long philtrum HP:0000343
7 hearing impairment HP:0000365
8 short neck HP:0000470
9 sparse eyebrow HP:0000535
10 delayed eruption of teeth HP:0000684
11 widely spaced teeth HP:0000687
12 microdontia HP:0000691
13 brachydactyly syndrome HP:0001156
14 barrel-shaped chest HP:0001552
15 ventricular septal defect HP:0001629
16 pulmonic stenosis HP:0001642
17 aortic valve stenosis HP:0001650
18 mitral regurgitation HP:0001653
19 aortic regurgitation HP:0001659
20 ventricular hypertrophy HP:0001714
21 mitral stenosis HP:0001718
22 talipes equinovarus HP:0001762
23 pes planus HP:0001763
24 pulmonary hypertension HP:0002092
25 delayed gross motor development HP:0002194
26 waddling gait HP:0002515
27 highly arched eyebrow HP:0002553
28 spondyloepiphyseal dysplasia HP:0002655
29 delayed skeletal maturation HP:0002750
30 kyphoscoliosis HP:0002751
31 arthralgia HP:0002829
32 genu valgum HP:0002857
33 lumbar hyperlordosis HP:0002938
34 intervertebral space narrowing HP:0002945
35 cubitus valgus HP:0002967
36 tibial bowing HP:0002982
37 hypoplasia of the ulna HP:0003022
38 ulnar bowing HP:0003031
39 arthropathy HP:0003040
40 elbow dislocation HP:0003042
41 flattened epiphyses HP:0003071
42 hypoplasia of the capital femoral epiphysis HP:0003090
43 limited hip extension HP:0003093
44 decreased hip abduction HP:0003184
45 irregular vertebral endplates HP:0003301
46 coronal cleft vertebrae HP:0003417
47 shoulder dislocation HP:0003834
48 knee dislocation HP:0004976
49 tricuspid regurgitation HP:0005180
50 multiple carpal ossification centers HP:0006067
51 generalized bone demineralization HP:0006462
52 fixed elbow flexion HP:0006471
53 wide intermamillary distance HP:0006610
54 bilateral single transverse palmar creases HP:0007598
55 narrow vertebral interpedicular distance HP:0008450
56 microtia HP:0008551
57 rhizomelia HP:0008905
58 deviation of the 5th finger HP:0009179
59 short phalanx of finger HP:0009803
60 short distal phalanx of finger HP:0009882
61 short metacarpal HP:0010049
62 tricuspid stenosis HP:0010446
63 small epiphyses HP:0010585
64 camptodactyly of finger HP:0100490
65 short femoral neck HP:0100864

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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Drug clinical trials:

Search ClinicalTrials for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Search NIH Clinical Center for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Genetic Tests for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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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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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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Variations for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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

64
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:

6 (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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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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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet