MCID: SPN209
MIFTS: 48

Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations malady

Genetic diseases, Rare diseases, Bone diseases categories

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 49 10 11 23 12 24 67
Spondyloepiphyseal Dysplasia 10 45 22 47 65
Chst3-Related Skeletal Dysplasia 10 21 22 23
Humerospinal Dysostosis 10 45 22 67
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
Omani Type of Spondyloepiphyseal Dysplasia 45 22
Spondyloepiphyseal Dysplasia, Omani Type 23 65
Spondyloepiphyseal Dysplasia Omani Type 45 67
Chst3-Related Dysplasia 21 22
Chst3 Deficiency 21 22
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
Humero-Spinal Dysostosis 23
Mucopolysaccharidosis Iv 65
Sed, Omani Type 23
Sed Omani Type 67
Omani Type 10
Sedc-Jd 67
Cdmd 23
Hsd 67
Sed 22


Classifications:



External Ids:

OMIM49 143095
Disease Ontology10 DOID:0050813
ICD1027 Q77.7
MeSH36 D010009

Summaries for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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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 larsen syndrome and cataract, and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and high palate. An important gene associated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations is CHST3 (Carbohydrate (Chondroitin 6) Sulfotransferase 3), and among its related pathways are Endochondral Ossification and Articular Cartilage Extracellular Matrix. Affiliated tissues include bone and heart, and related mouse phenotypes are renal/urinary system and skeleton.

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.

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.

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.

GeneReviews summary for cd-chst3

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 253)
idRelated DiseaseScoreTop Affiliating Genes
1larsen syndrome30.5CANT1, CHST3, GALNS
2cataract30.4ACAN, COL2A1
3achondroplasia30.4ACAN, FGFR3
4kniest dysplasia30.3CANT1, COL2A1, GALNS
5spondyloepimetaphyseal dysplasia30.2ACAN, COL2A1
6spondyloepiphyseal dysplasia tarda11.1
7sed congenita10.9
8sed, maroteaux type10.7
9spondyloepiphyseal dysplasia, kimberley type10.6
10pseudoachondroplasia10.6
11schimke immunoosseous dysplasia10.6
12arthropathy, progressive pseudorheumatoid, of childhood10.6
13arthropathy10.6
14osteoarthritis10.6
15spondyloepiphyseal dysplasia tarda, autosomal dominant10.5
16spondyloepiphyseal dysplasia, stanescu type10.5
17congenital heart disease10.5
18spondyloepiphyseal dysplasia tarda toledo type10.5
19spondyloepiphyseal dysplasia, nishimura type10.5
20spondyloepiphyseal dysplasia, cantu type10.5
21spondyloepiphyseal dysplasia, macdermot type10.5
22multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects10.5
23multiple epiphyseal dysplasia10.4
24spondyloepiphyseal dysplasia-brachydactyly and distinctive speech10.4
25spondyloepiphyseal dysplasia, reardon type10.4
26spondyloepiphyseal dysplasia tarda, kohn type10.4
27mild spondyloepiphyseal dysplasia due to col2a1 mutation with early-onset osteoarthritis10.4
28respiratory system disease10.4
29generalized anxiety disorder10.4
30spondyloperipheral dysplasia10.3
31roifman syndrome10.3
32nephrotic syndrome10.3
33collagenopathy, types ii and xi10.3
34anxiety disorder10.3
35sleep disorder10.3
363-beta-hydroxysteroid dehydrogenase, type ii, deficiency10.3
37craniosynostosis10.3
38congenital adrenal hyperplasia10.3
39stickler syndrome, type i10.3
40czech dysplasia10.3
41pulmonary hypertension10.3
42arthritis10.3
43leber hereditary optic neuropathy10.3
44cervicitis10.3
45neuropathy10.3
46dwarfism10.3
47skeletal dysplasias10.3
48skeletal dysplasia10.3
49atlantoaxial subluxation10.3
50subacute delirium10.2

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 epiphysis 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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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 Chst3-Related Skeletal Dysplasia22 CHST3
2 Humerospinal Dysostosis22 CHST3
3 Spondyloepiphyseal Dysplasia22 COL2A1
4 Spondyloepiphyseal Dysplasia, Omani Type22 CHST3
5 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations24

Anatomical Context for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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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

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MGI Mouse Phenotypes related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.4COL2A1, FGFR3, GALNS, SMARCA2, SMARCAL1
2MP:00053907.9ACAN, COL2A1, FGFR3, GALNS, SMARCA2, SMARCAL1

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:

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 14)
id Gene Variation Type Significance SNP ID Assembly Location
1COL2A1NM_001844.4(COL2A1): c.4316C> T (p.Thr1439Met)single nucleotide variantLikely pathogenic, Pathogenicrs121912886GRCh37Chr 12, 48367873: 48367873
2COL2A1NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser)single nucleotide variantPathogenicrs121912880GRCh37Chr 12, 48380136: 48380136
3CHST3NM_004273.4(CHST3): c.911G> A (p.Arg304Gln)single nucleotide variantPathogenicrs28937593GRCh37Chr 10, 73767700: 73767700
4CHST3NM_004273.4(CHST3): c.776T> C (p.Leu259Pro)single nucleotide variantPathogenicrs121908616GRCh37Chr 10, 73767565: 73767565
5CHST3NM_004273.4(CHST3): c.1114G> A (p.Glu372Lys)single nucleotide variantPathogenicrs267606734GRCh37Chr 10, 73767903: 73767903
6CHST3NM_004273.4(CHST3): c.664C> T (p.Arg222Trp)single nucleotide variantPathogenicrs121908617GRCh37Chr 10, 73767453: 73767453
7CHST3NM_004273.4(CHST3): c.920T> C (p.Leu307Pro)single nucleotide variantPathogenicrs121908618GRCh37Chr 10, 73767709: 73767709
8CHST3CHST3, 1-BP DEL, 1086GdeletionPathogenic
9CHST3NM_004273.4(CHST3): c.603C> A (p.Tyr201Ter)single nucleotide variantPathogenicrs121908619GRCh37Chr 10, 73767392: 73767392
10CHST3NM_004273.4(CHST3): c.857T> C (p.Leu286Pro)single nucleotide variantPathogenicrs121908620GRCh37Chr 10, 73767646: 73767646
11CHST3NM_004273.4(CHST3): c.422C> T (p.Thr141Met)single nucleotide variantPathogenicrs267606735GRCh37Chr 10, 73767211: 73767211
12CHST3NM_004273.4(CHST3): c.475T> A (p.Phe159Ile)single nucleotide variantPathogenicrs145538723GRCh37Chr 10, 73767264: 73767264
13CHST3NM_004273.4(CHST3): c.481C> T (p.Leu161Phe)single nucleotide variantPathogenicrs267606733GRCh37Chr 10, 73767270: 73767270
14CHST3NM_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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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 pathways (with members indented)ScoreTop Affiliating Genes
19.4ACAN, COL2A1, FGFR3
29.3ACAN, CHST1, CHST3, COL2A1

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

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1sulfur compound metabolic processGO:000679010.4CHST1, CHST3
2keratan sulfate biosynthetic processGO:001814610.3ACAN, CHST1
3keratan sulfate catabolic processGO:004234010.1ACAN, GALNS
4cartilage condensationGO:00015029.9ACAN, COL2A1
5proteoglycan biosynthetic processGO:00301669.9ACAN, CANT1
6endochondral ossificationGO:00019589.8COL2A1, FGFR3
7collagen fibril organizationGO:00301999.8ACAN, COL2A1
8chondrocyte differentiationGO:00020629.8COL2A1, FGFR3
9keratan sulfate metabolic processGO:00423399.8ACAN, CHST1, GALNS
10carbohydrate metabolic processGO:00059759.2ACAN, CHST1, CHST3, GALNS
11glycosaminoglycan metabolic processGO:00302039.2ACAN, CHST1, CHST3, GALNS
12skeletal system developmentGO:00015018.8ACAN, COL2A1, FGFR3, TRAPPC2

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

idNameGO IDScoreTop Affiliating Genes
1N-acetylglucosamine 6-O-sulfotransferase activityGO:000151710.3CHST1, CHST3
2sulfotransferase activityGO:00081469.9CHST1, CHST3
3DNA-dependent ATPase activityGO:00080949.3SMARCA2, SMARCAL1

Sources for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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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