MCID: SPN209
MIFTS: 43

Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

About this section

Aliases & Descriptions for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

Name: Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 49 10 11 23 12 67 24
Spondyloepiphyseal Dysplasia 10 45 22 47 65
Chst3-Related Skeletal Dysplasia 10 21 22 23
Humerospinal Dysostosis 10 45 22 67
Spondyloepiphyseal Dysplasia, Omani Type 22 23 65
Kozlowski Celermajer Tink Syndrome 10 45 65
Chondrodysplasia with Congenital Joint Dislocations, Chst3 Type 21 22
Humero-Spinal Dysostosis with Congenital Heart Disease 10 45
Chondrodysplasia with Multiple Dislocations 10 23
Spondyloepiphyseal Dysplasia Omani Type 45 67
Chst3-Related Dysplasia 21 22
Chst3 Deficiency 21 22
Omani Type of Spondyloepiphyseal Dysplasia 45
Chst3-Related Spondyloepiphyseal Dysplasia 22
 
Spondyloepiphyseal Dysplasia, Congenita 65
Autosomal Recessive Larsen Syndrome 23
Larsen Syndrome, Recessive Type 65
Sed with Luxations, Chst3 Type 23
Dysplasia, Spondyloepiphyseal 24
Mucopolysaccharidosis Iv 65
Humero-Spinal Dysostosis 23
Sed, Omani Type 23
Sed Omani Type 67
Omani Type 10
Sedc-Jd 67
Cdmd 23
Hsd 67
Sed 22

Characteristics:

HPO:

61
spondyloepiphyseal dysplasia with congenital joint dislocations:
Inheritance: autosomal recessive inheritance, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 143095
Disease Ontology10 DOID:0050813
MeSH36 D010009
ICD1027 Q77.7
UMLS65 C1837657, C3672366, C0038015 C2745959, C2931649, more

Summaries for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

About this section
OMIM:49 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 spondyloepimetaphyseal dysplasia, and has symptoms including short femoral neck, camptodactyly of finger and small epiphyses. An important gene associated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations is CHST3 (Carbohydrate (Chondroitin 6) Sulfotransferase 3), and among its related pathways are dermatan sulfate biosynthesis and Endochondral Ossification. Affiliated tissues include bone and heart.

Disease Ontology:10 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.

NIH Rare Diseases:45 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:67 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.

Genetics Home Reference:23 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.

GeneReviews summary for NBK62112

Related Diseases for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

About this section

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

(show top 50)    (show all 124)
idRelated DiseaseScoreTop Affiliating Genes
1smed strudwick type32.4ACAN, COL2A1
2spondyloepimetaphyseal dysplasia30.9ACAN, COL2A1
3spondyloepiphyseal dysplasia tarda12.8
4spondyloepiphyseal dysplasia, kimberley type12.8
5spondyloepiphyseal dysplasia, cantu type12.6
6spondyloepiphyseal dysplasia tarda, autosomal dominant12.6
7spondyloepiphyseal dysplasia, stanescu type12.5
8spondyloepiphyseal dysplasia, nishimura type12.5
9spondyloepiphyseal dysplasia, macdermot type12.5
10spondyloepiphyseal dysplasia tarda toledo type12.5
11spondyloepiphyseal dysplasia, reardon type12.5
12spondyloepiphyseal dysplasia tarda, kohn type12.5
13mild spondyloepiphyseal dysplasia due to col2a1 mutation with early-onset osteoarthritis12.5
14sed congenita12.5
15spondyloepiphyseal dysplasia-brachydactyly and distinctive speech12.4
16sed, maroteaux type12.3
17schimke immunoosseous dysplasia12.0
18roifman syndrome11.9
193-beta-hydroxysteroid dehydrogenase, type ii, deficiency11.9
20czech dysplasia11.8
21pseudoachondroplasia11.8
22arthropathy, progressive pseudorheumatoid, of childhood11.7
23collagenopathy, types ii and xi11.6
24pseudoachondroplastic dysplasia 211.3
2517-beta-hydroxysteroid dehydrogenase x deficiency11.3
26cortisone reductase deficiency11.3
27spondyloperipheral dysplasia11.0
28multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects10.7
29fibrochondrogenesis10.6
30brain injury10.5
31metaphyseal dysplasia10.5
32urethritis10.5
33cortisone reductase deficiency 210.5
34dyssegmental dysplasia, silverman-handmaker type10.4
35schneckenbecken dysplasia10.4
36spondylometaepiphyseal dysplasia, short limb-hand type10.4
37spondylo-megaepiphyseal-metaphyseal dysplasia10.4
38otospondylomegaepiphyseal dysplasia10.4
39weissenbacher-zweymuller syndrome10.4
40anauxetic dysplasia10.4
41spondyloepimetaphyseal dysplasia, missouri type10.4
42kniest dysplasia10.4
43spondyloepimetaphyseal dysplasia, aggrecan type10.4
44dyggve-melchior-clausen disease10.4
45smith-mccort dysplasia10.4
46spondyloepimetaphyseal dysplasia, sponastrime type10.4
47brachydactylous dwarfism mseleni type10.4
48dyssegmental dysplasia rolland-desbuquois type10.4
49spondyloepimetaphyseal dysplasia genevieve type10.4
50spondyloepimetaphyseal dysplasia joint laxity10.4

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

About this section

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

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

About this section

Interventional clinical trials:

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

Genetic Tests for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

About this section

Genetic tests related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

id Genetic test Affiliating Genes
1 Chst3-Related Skeletal Dysplasia22 CHST3
2 Humerospinal Dysostosis22 CHST3
3 Spondyloepiphyseal Dysplasia22 COL2A1
4 Spondyloepiphyseal Dysplasia, Omani Type22 CHST3

Anatomical Context for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

About this section

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

33
Bone, Heart

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

About this section

Publications for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

About this section

Variations for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

About this section

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

67
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:

5 (show all 12)
id Gene Variation 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

About this section
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

About this section

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1collagen fibril organizationGO:003019910.1ACAN, COL2A1
2endochondral ossificationGO:000195810.1COL2A1, FGFR3
3glycosaminoglycan metabolic processGO:00302039.6CHST2, CHST3
4carbohydrate metabolic processGO:00059759.3CHST2, CHST3, GALNS
5proteoglycan biosynthetic processGO:00301669.2ACAN, CANT1

Sources for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet