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

Aliases & Descriptions for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

Name: Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 54 12 25 66 29 13 14
Spondyloepiphyseal Dysplasia 12 50 24 52 69
Chst3-Related Skeletal Dysplasia 12 23 24 25
Spondyloepiphyseal Dysplasia, Omani Type 24 25 69
Humerospinal Dysostosis 12 24 66
Chondrodysplasia with Congenital Joint Dislocations, Chst3 Type 23 24
Chondrodysplasia with Multiple Dislocations 12 25
Kozlowski Celermajer Tink Syndrome 12 69
Chst3-Related Dysplasia 23 24
Chst3 Deficiency 23 24
Humero-Spinal Dysostosis with Congenital Heart Disease 12
Chst3-Related Spondyloepiphyseal Dysplasia 24
Spondyloepiphyseal Dysplasia Omani Type 66
Spondyloepiphyseal Dysplasia, Congenita 69
Autosomal Recessive Larsen Syndrome 25
Larsen Syndrome, Recessive Type 69
Sed with Luxations, Chst3 Type 25
Dysplasia, Spondyloepiphyseal 29
Mucopolysaccharidosis Iv 69
Humero-Spinal Dysostosis 25
Sed, Omani Type 25
Sed Omani Type 66
Omani Type 12
Sedcjd 66
Cdmd 25
Sed 24
Hsd 66

Characteristics:

HPO:

32
spondyloepiphyseal dysplasia with congenital joint dislocations:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 143095
Disease Ontology 12 DOID:0050813
MeSH 42 D010009
ICD10 33 Q77.7

Summaries for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

OMIM : 54 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 arthralgia, waddling gait and hypertelorism. An important gene associated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations is CHST3 (Carbohydrate Sulfotransferase 3), and among its related pathways/superpathways are Endochondral Ossification and Articular Cartilage Extracellular Matrix Pathway. Affiliated tissues include bone and heart, and related phenotype is skeleton.

Disease Ontology : 12 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 : 50 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 : 66 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: NBK62112

Related Diseases for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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

(show top 50) (show all 72)
id Related Disease Score Top Affiliating Genes
1 smed strudwick type 31.9 COL2A1 GALNS
2 spondyloepiphyseal dysplasia tarda 12.5
3 spondyloepiphyseal dysplasia, stanescu type 12.4
4 spondyloepiphyseal dysplasia, kimberley type 12.4
5 sed congenita 12.2
6 spondyloepiphyseal dysplasia tarda, autosomal dominant 12.1
7 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 12.1
8 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 12.1
9 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness 12.1
10 spondyloepiphyseal dysplasia tarda with mental retardation 12.0
11 spondyloepiphyseal dysplasia with atlantoaxial instability 12.0
12 sed, maroteaux type 12.0
13 schimke immunoosseous dysplasia 12.0
14 roifman syndrome 11.7
15 3-beta-hydroxysteroid dehydrogenase, type ii, deficiency 11.6
16 pseudoachondroplasia 11.6
17 czech dysplasia 11.3
18 arthropathy, progressive pseudorheumatoid, of childhood 11.2
19 spondyloperipheral dysplasia 11.2
20 osteoarthritis with mild chondrodysplasia 11.2
21 multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects 11.2
22 brachyolmia type 2 11.0
23 cortisone reductase deficiency 2 11.0
24 stickler syndrome, type i 10.9
25 cortisone reductase deficiency 1 10.8
26 17-beta-hydroxysteroid dehydrogenase x deficiency 10.8
27 cortisone reductase deficiency 10.8
28 cerebral palsy 10.2 ACAN COL2A1
29 epiphyseal dysplasia, multiple, with myopia and deafness 10.2 ACAN COL2A1
30 atelosteogenesis, type i 10.2 CHST3 GALNS
31 metatropic dysplasia 10.2 COL2A1 GALNS
32 albright's hereditary osteodystrophy 10.2 ACAN COL2A1
33 acromesomelic dysplasia 10.2 COL2A1 SLC26A2
34 t cell immunodeficiency primary 10.2 COL2A1 FGFR3
35 achondrogenesis ib 10.1 COL2A1 SLC26A2
36 heart disease 10.1
37 dysostosis 10.1
38 fetal alcohol spectrum disorder 10.1 COL2A1 GALNS
39 toenail dystrophy, isolated 10.1 COL2A1 FGFR3
40 short stature, optic nerve atrophy, and pelger-huet anomaly 10.1 ACAN COL2A1
41 skeletal dysplasias 10.1
42 skeletal dysplasia 10.1
43 vitelliform macular dystrophy 10.1 FGFR3 SLC26A2
44 chromosomal disease 10.1 ACAN COL2A1
45 physical disorder 10.1 ACAN COL2A1
46 immunodeficiency 30 10.1 ACAN SLC26A2
47 coronary heart disease 4 10.0 ACAN COL2A1 SLC26A2
48 intermediate uveitis 10.0 ACAN COL2A1 SLC26A2
49 nephrotic syndrome 10.0 CHST3 SLC26A2
50 polycystic ovary syndrome 9.9

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

Symptoms by clinical synopsis from OMIM:

143095

Clinical features from OMIM:

143095

Human phenotypes related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

32 (show top 50) (show all 64)
id Description HPO Frequency HPO Source Accession
1 arthralgia 32 HP:0002829
2 waddling gait 32 HP:0002515
3 hypertelorism 32 HP:0000316
4 short neck 32 HP:0000470
5 genu valgum 32 HP:0002857
6 high palate 32 HP:0000218
7 hearing impairment 32 HP:0000365
8 widely spaced teeth 32 HP:0000687
9 delayed skeletal maturation 32 HP:0002750
10 pes planus 32 HP:0001763
11 microtia 32 HP:0008551
12 long philtrum 32 HP:0000343
13 delayed eruption of teeth 32 HP:0000684
14 microdontia 32 HP:0000691
15 cubitus valgus 32 HP:0002967
16 wide intermamillary distance 32 HP:0006610
17 broad forehead 32 HP:0000337
18 rhizomelia 32 HP:0008905
19 mitral regurgitation 32 HP:0001653
20 brachydactyly syndrome 32 HP:0001156
21 bilateral single transverse palmar creases 32 HP:0007598
22 elbow dislocation 32 HP:0003042
23 flattened epiphysis 32 HP:0003071
24 ventricular septal defect 32 HP:0001629
25 talipes equinovarus 32 HP:0001762
26 pulmonic stenosis 32 HP:0001642
27 highly arched eyebrow 32 HP:0002553
28 short distal phalanx of finger 32 HP:0009882
29 camptodactyly of finger 32 HP:0100490
30 hypoplasia of the ulna 32 HP:0003022
31 short metacarpal 32 HP:0010049
32 aortic valve stenosis 32 HP:0001650
33 kyphoscoliosis 32 HP:0002751
34 shoulder dislocation 32 HP:0003834
35 mitral stenosis 32 HP:0001718
36 delayed gross motor development 32 HP:0002194
37 tricuspid regurgitation 32 HP:0005180
38 short phalanx of finger 32 HP:0009803
39 aortic regurgitation 32 HP:0001659
40 generalized bone demineralization 32 HP:0006462
41 lumbar hyperlordosis 32 HP:0002938
42 tibial bowing 32 HP:0002982
43 ulnar bowing 32 HP:0003031
44 coronal cleft vertebrae 32 HP:0003417
45 irregular vertebral endplates 32 HP:0003301
46 small epiphyses 32 HP:0010585
47 short femoral neck 32 HP:0100864
48 shield chest 32 HP:0000914
49 ventricular hypertrophy 32 HP:0001714
50 knee dislocation 32 HP:0004976

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.1 CHST3 COL2A1 FGFR3 GALNS SLC26A2 SMARCAL1

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Search Clinical Trials , NIH Clinical Center for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Genetic Tests for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Genetic tests related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

id Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 29
2 Spondyloepiphyseal Dysplasia 29 24 COL2A1
3 Chst3-Related Skeletal Dysplasia 24 CHST3
4 Humerospinal Dysostosis 24 CHST3
5 Spondyloepiphyseal Dysplasia, Omani Type 24 CHST3

Anatomical Context for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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

39
Bone, Heart

Publications for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Variations for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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

66
id Symbol AA change Variation ID SNP ID
1 CHST3 p.Arg304Gln VAR_021413 rs28937593
2 CHST3 p.Arg222Trp VAR_047856 rs121908617
3 CHST3 p.Leu259Pro VAR_047857 rs121908616
4 CHST3 p.Leu307Pro VAR_047858 rs121908618
5 CHST3 p.Glu372Lys VAR_047859 rs267606734

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

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 CHST3 NM_004273.4(CHST3): c.911G> A (p.Arg304Gln) single nucleotide variant Pathogenic rs28937593 GRCh37 Chromosome 10, 73767700: 73767700
2 CHST3 NM_004273.4(CHST3): c.776T> C (p.Leu259Pro) single nucleotide variant Pathogenic rs121908616 GRCh37 Chromosome 10, 73767565: 73767565
3 CHST3 NM_004273.4(CHST3): c.1114G> A (p.Glu372Lys) single nucleotide variant Pathogenic rs267606734 GRCh37 Chromosome 10, 73767903: 73767903
4 CHST3 NM_004273.4(CHST3): c.664C> T (p.Arg222Trp) single nucleotide variant Pathogenic rs121908617 GRCh37 Chromosome 10, 73767453: 73767453
5 CHST3 NM_004273.4(CHST3): c.920T> C (p.Leu307Pro) single nucleotide variant Pathogenic rs121908618 GRCh37 Chromosome 10, 73767709: 73767709
6 CHST3 CHST3, 1-BP DEL, 1086G deletion Pathogenic
7 CHST3 NM_004273.4(CHST3): c.603C> A (p.Tyr201Ter) single nucleotide variant Pathogenic rs121908619 GRCh37 Chromosome 10, 73767392: 73767392
8 CHST3 NM_004273.4(CHST3): c.857T> C (p.Leu286Pro) single nucleotide variant Pathogenic rs121908620 GRCh37 Chromosome 10, 73767646: 73767646
9 CHST3 NM_004273.4(CHST3): c.422C> T (p.Thr141Met) single nucleotide variant Pathogenic rs267606735 GRCh37 Chromosome 10, 73767211: 73767211
10 CHST3 NM_004273.4(CHST3): c.475T> A (p.Phe159Ile) single nucleotide variant Pathogenic rs145538723 GRCh37 Chromosome 10, 73767264: 73767264
11 CHST3 NM_004273.4(CHST3): c.481C> T (p.Leu161Phe) single nucleotide variant Pathogenic rs267606733 GRCh37 Chromosome 10, 73767270: 73767270
12 CHST3 NM_004273.4(CHST3): c.988C> T (p.Gln330Ter) single nucleotide variant Pathogenic rs267606732 GRCh37 Chromosome 10, 73767777: 73767777
13 CHST3 NM_004273.4(CHST3): c.1063G> A (p.Gly355Arg) single nucleotide variant Pathogenic rs747171013 GRCh38 Chromosome 10, 72008094: 72008094

Expression for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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

Pathways for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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

id Super pathways Score Top Affiliating Genes
1 10.94 ACAN COL2A1 FGFR3
2 10.38 ACAN CHST3 COL2A1

GO Terms for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.1 ACAN CANT1 COL2A1 FGFR3 GALNS WISP3

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

id Name GO ID Score Top Affiliating Genes
1 chondrocyte differentiation GO:0002062 9.37 COL2A1 FGFR3
2 collagen fibril organization GO:0030199 9.32 ACAN COL2A1
3 endochondral ossification GO:0001958 9.26 COL2A1 FGFR3
4 proteoglycan biosynthetic process GO:0030166 9.16 ACAN CANT1
5 keratan sulfate catabolic process GO:0042340 8.96 ACAN GALNS
6 skeletal system development GO:0001501 8.92 ACAN COL2A1 FGFR3 TRAPPC2

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 ACAN COL2A1

Sources for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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