SEDCJD
MCID: SPN209
MIFTS: 42

Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (SEDCJD) malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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Aliases & Descriptions for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

Name: Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 52 11 25 70 27 12 13
Spondyloepiphyseal Dysplasia 11 48 24 50 68
Chst3-Related Skeletal Dysplasia 11 23 24 25
Spondyloepiphyseal Dysplasia, Omani Type 24 25 68
Humerospinal Dysostosis 11 24 70
Chondrodysplasia with Congenital Joint Dislocations, Chst3 Type 23 24
Chondrodysplasia with Multiple Dislocations 11 25
Kozlowski Celermajer Tink Syndrome 11 68
Chst3-Related Dysplasia 23 24
Chst3 Deficiency 23 24
Humero-Spinal Dysostosis with Congenital Heart Disease 11
Chst3-Related Spondyloepiphyseal Dysplasia 24
Spondyloepiphyseal Dysplasia, Congenita 68
Spondyloepiphyseal Dysplasia Omani Type 70
 
Autosomal Recessive Larsen Syndrome 25
Larsen Syndrome, Recessive Type 68
Sed with Luxations, Chst3 Type 25
Dysplasia, Spondyloepiphyseal 27
Humero-Spinal Dysostosis 25
Mucopolysaccharidosis Iv 68
Sed, Omani Type 25
Sed Omani Type 70
Omani Type 11
Sedcjd 70
Cdmd 25
Sed 24
Hsd 70

Characteristics:

HPO:

64
spondyloepiphyseal dysplasia with congenital joint dislocations:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 143095
Disease Ontology11 DOID:0050813
MeSH39 D010009
ICD1030 Q77.7

Summaries for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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OMIM:52 Although patients with mutations in the CHST3 gene may initially be given varying diagnostic labels, they have similar... (143095) more...

MalaCards based summary: Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations, also known as spondyloepiphyseal dysplasia, is related to smed strudwick type and spondyloepiphyseal dysplasia tarda, and has symptoms including waddling gait, waddling gait and respiratory distress. An important gene associated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations is CHST3 (Carbohydrate Sulfotransferase 3), and among its related pathways are Articular Cartilage Extracellular Matrix Pathway and Endochondral Ossification. Affiliated tissues include bone and heart, and related mouse phenotype skeleton.

Disease Ontology:11 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.

Genetics Home Reference:25 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.

NIH Rare Diseases:48 Spondyloepiphyseal dysplasia (sed) is a group of rare genetic conditions that affect bone growth in the spine, arms, and legs. other features include problems with vision and hearing, clubfeet, cleft palate, arthritis, and difficulty with breathing as curvature of the spine progresses. there are two main types of sed, spondyloepiphyseal dysplasia congenita (which is present from bith) and spondyloepiphyseal dysplasia tarda (which develops later in childhood or adolescence). spondyloepiphyseal dysplasia is caused by mutations in genes that are responsible for making proteins that are needed for the creation of bone and cartilage. most cases are due to a new (de novo) mutation, although it can be passed down through families. treatment is aimed at managing the symptoms and associated complications as they arise. last updated: 4/21/2016

UniProtKB/Swiss-Prot:70 Spondyloepiphyseal dysplasia with congenital joint dislocations: A bone dysplasia clinically characterized by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood.

GeneReviews for NBK62112

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 Suite gene sharing:

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1smed strudwick type31.9COL2A1, GALNS
2spondyloepiphyseal dysplasia tarda12.5
3spondyloepiphyseal dysplasia, stanescu type12.4
4spondyloepiphyseal dysplasia, kimberley type12.4
5sed congenita12.2
6spondyloepiphyseal dysplasia tarda, autosomal dominant12.1
7spondyloepiphyseal dysplasia-brachydactyly and distinctive speech12.1
8spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation12.1
9spondyloepiphyseal dysplasia, myopia, and sensorineural deafness12.1
10spondyloepiphyseal dysplasia with atlantoaxial instability12.0
11spondyloepiphyseal dysplasia tarda with mental retardation12.0
12sed, maroteaux type12.0
13schimke immunoosseous dysplasia12.0
14roifman syndrome11.7
153-beta-hydroxysteroid dehydrogenase, type ii, deficiency11.6
16pseudoachondroplasia11.6
17czech dysplasia11.3
18arthropathy, progressive pseudorheumatoid, of childhood11.2
19spondyloperipheral dysplasia11.2
2011.2
21osteoarthritis with mild chondrodysplasia11.2
22multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects11.2
23brachyolmia type 211.0
24cortisone reductase deficiency 211.0
25stickler syndrome, type i10.9
26cortisone reductase deficiency 110.8
2717-beta-hydroxysteroid dehydrogenase x deficiency10.8
28cortisone reductase deficiency10.8
29cerebral palsy10.2ACAN, COL2A1
30epiphyseal dysplasia, multiple, with myopia and deafness10.2ACAN, COL2A1
31atelosteogenesis, type i10.2CHST3, GALNS
32metatropic dysplasia10.2COL2A1, GALNS
33albright's hereditary osteodystrophy10.2ACAN, COL2A1
34acromesomelic dysplasia10.2COL2A1, SLC26A2
35t cell immunodeficiency primary10.2COL2A1, FGFR3
36achondrogenesis ib10.1COL2A1, SLC26A2
37heart disease10.1
38dysostosis10.1
39fetal alcohol spectrum disorder10.1COL2A1, GALNS
40short stature, optic nerve atrophy, and pelger-huet anomaly10.1ACAN, COL2A1
41toenail dystrophy, isolated10.1COL2A1, FGFR3
42skeletal dysplasias10.1
43skeletal dysplasia10.1
44vitelliform macular dystrophy10.1FGFR3, SLC26A2
45chromosomal disease10.1ACAN, COL2A1
46physical disorder10.1ACAN, COL2A1
47immunodeficiency 3010.1ACAN, SLC26A2
48coronary heart disease 410.0ACAN, COL2A1, SLC26A2
49intermediate uveitis10.0ACAN, COL2A1, SLC26A2
50nephrotic syndrome10.0CHST3, SLC26A2

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 & Phenotypes for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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Symptoms by clinical synopsis from OMIM:

143095

Clinical features from OMIM:

143095

Human phenotypes related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

 64 (show all 64)
id Description HPO Frequency HPO Source Accession
1 high palate64 HP:0000218
2 hypertelorism64 HP:0000316
3 broad forehead64 HP:0000337
4 long philtrum64 HP:0000343
5 hearing impairment64 HP:0000365
6 short neck64 HP:0000470
7 sparse and thin eyebrow64 HP:0000535
8 delayed eruption of teeth64 HP:0000684
9 widely spaced teeth64 HP:0000687
10 microdontia64 HP:0000691
11 shield chest64 HP:0000914
12 brachydactyly syndrome64 HP:0001156
13 barrel-shaped chest64 HP:0001552
14 ventricular septal defect64 HP:0001629
15 pulmonic stenosis64 HP:0001642
16 aortic valve stenosis64 HP:0001650
17 mitral regurgitation64 HP:0001653
18 aortic regurgitation64 HP:0001659
19 ventricular hypertrophy64 HP:0001714
20 mitral stenosis64 HP:0001718
21 talipes equinovarus64 HP:0001762
22 pes planus64 HP:0001763
23 pulmonary arterial hypertension64 HP:0002092
24 delayed gross motor development64 HP:0002194
25 waddling gait64 HP:0002515
26 highly arched eyebrow64 HP:0002553
27 spondyloepiphyseal dysplasia64 HP:0002655
28 delayed skeletal maturation64 HP:0002750
29 kyphoscoliosis64 HP:0002751
30 arthralgia64 HP:0002829
31 genu valgum64 HP:0002857
32 lumbar hyperlordosis64 HP:0002938
33 intervertebral space narrowing64 HP:0002945
34 cubitus valgus64 HP:0002967
35 tibial bowing64 HP:0002982
36 hypoplasia of the ulna64 HP:0003022
37 ulnar bowing64 HP:0003031
38 arthropathy64 HP:0003040
39 elbow dislocation64 HP:0003042
40 flattened epiphysis64 HP:0003071
41 hypoplasia of the capital femoral epiphysis64 HP:0003090
42 limited hip extension64 HP:0003093
43 decreased hip abduction64 HP:0003184
44 irregular vertebral endplates64 HP:0003301
45 coronal cleft vertebrae64 HP:0003417
46 shoulder dislocation64 HP:0003834
47 knee dislocation64 HP:0004976
48 tricuspid regurgitation64 HP:0005180
49 multiple carpal ossification centers64 HP:0006067
50 generalized bone demineralization64 HP:0006462
51 fixed elbow flexion64 HP:0006471
52 wide intermamillary distance64 HP:0006610
53 bilateral single transverse palmar creases64 HP:0007598
54 narrow vertebral interpedicular distance64 HP:0008450
55 microtia64 HP:0008551
56 rhizomelia64 HP:0008905
57 deviation of the 5th finger64 HP:0009179
58 short phalanx of finger64 HP:0009803
59 short distal phalanx of finger64 HP:0009882
60 short metacarpal64 HP:0010049
61 tricuspid stenosis64 HP:0010446
62 small epiphyses64 HP:0010585
63 camptodactyly of finger64 HP:0100490
64 short femoral neck64 HP:0100864

UMLS symptoms related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:


waddling gait, respiratory distress

MGI Mouse Phenotypes related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.0CHST3, COL2A1, FGFR3, GALNS, SLC26A2, SMARCAL1

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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Interventional clinical trials:

Search ClinicalTrials, 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 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations27
2 Spondyloepiphyseal Dysplasia27 24 COL2A1
3 Chst3-Related Skeletal Dysplasia24 CHST3
4 Humerospinal Dysostosis24 CHST3
5 Spondyloepiphyseal Dysplasia, Omani Type24 CHST3

Anatomical Context for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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

36
Bone, Heart

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:

70
id Symbol AA change Variation ID SNP ID
1CHST3p.Arg304GlnVAR_021413rs28937593
2CHST3p.Arg222TrpVAR_047856rs121908617
3CHST3p.Leu259ProVAR_047857rs121908616
4CHST3p.Leu307ProVAR_047858rs121908618
5CHST3p.Glu372LysVAR_047859rs267606734

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

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1CHST3NM_ 004273.4(CHST3): c.1063G> A (p.Gly355Arg)SNVPathogenicrs747171013GRCh38Chr 10, 72008094: 72008094
2CHST3NM_ 004273.4(CHST3): c.911G> A (p.Arg304Gln)SNVPathogenicrs28937593GRCh37Chr 10, 73767700: 73767700
3CHST3NM_ 004273.4(CHST3): c.776T> C (p.Leu259Pro)SNVPathogenicrs121908616GRCh37Chr 10, 73767565: 73767565
4CHST3NM_ 004273.4(CHST3): c.1114G> A (p.Glu372Lys)SNVPathogenicrs267606734GRCh37Chr 10, 73767903: 73767903
5CHST3NM_ 004273.4(CHST3): c.664C> T (p.Arg222Trp)SNVPathogenicrs121908617GRCh37Chr 10, 73767453: 73767453
6CHST3NM_ 004273.4(CHST3): c.920T> C (p.Leu307Pro)SNVPathogenicrs121908618GRCh37Chr 10, 73767709: 73767709
7CHST3CHST3, 1-BP DEL, 1086GdeletionPathogenic
8CHST3NM_ 004273.4(CHST3): c.603C> A (p.Tyr201Ter)SNVPathogenicrs121908619GRCh37Chr 10, 73767392: 73767392
9CHST3NM_ 004273.4(CHST3): c.857T> C (p.Leu286Pro)SNVPathogenicrs121908620GRCh37Chr 10, 73767646: 73767646
10CHST3NM_ 004273.4(CHST3): c.422C> T (p.Thr141Met)SNVPathogenicrs267606735GRCh37Chr 10, 73767211: 73767211
11CHST3NM_ 004273.4(CHST3): c.475T> A (p.Phe159Ile)SNVPathogenicrs145538723GRCh37Chr 10, 73767264: 73767264
12CHST3NM_ 004273.4(CHST3): c.481C> T (p.Leu161Phe)SNVPathogenicrs267606733GRCh37Chr 10, 73767270: 73767270
13CHST3NM_ 004273.4(CHST3): c.988C> T (p.Gln330Ter)SNVPathogenicrs267606732GRCh37Chr 10, 73767777: 73767777

Expression for genes affiliated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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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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Pathways related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4ACAN, CHST3, COL2A1
29.3ACAN, COL2A1, FGFR3

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

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Cellular components related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055767.3ACAN, CANT1, COL2A1, FGFR3, GALNS, WISP3

Biological processes related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen fibril organizationGO:003019910.3ACAN, COL2A1
2chondrocyte differentiationGO:000206210.3COL2A1, FGFR3
3endochondral ossificationGO:000195810.3COL2A1, FGFR3
4keratan sulfate catabolic processGO:004234010.1ACAN, GALNS
5proteoglycan biosynthetic processGO:00301669.8ACAN, CANT1
6skeletal system developmentGO:00015018.9ACAN, COL2A1, FGFR3, TRAPPC2

Molecular functions related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.7ACAN, COL2A1

Sources for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet