MCID: SPN209
MIFTS: 45

Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 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 50 11 24 13 68 25 12
Spondyloepiphyseal Dysplasia 11 46 23 48 66
Chst3-Related Skeletal Dysplasia 11 22 23 24
Humerospinal Dysostosis 11 46 23 68
Spondyloepiphyseal Dysplasia, Omani Type 23 24 66
Kozlowski Celermajer Tink Syndrome 11 46 66
Chondrodysplasia with Congenital Joint Dislocations, Chst3 Type 22 23
Humero-Spinal Dysostosis with Congenital Heart Disease 11 46
Chondrodysplasia with Multiple Dislocations 11 24
Spondyloepiphyseal Dysplasia Omani Type 46 68
Chst3-Related Dysplasia 22 23
Chst3 Deficiency 22 23
Omani Type of Spondyloepiphyseal Dysplasia 46
Chst3-Related Spondyloepiphyseal Dysplasia 23
 
Spondyloepiphyseal Dysplasia, Congenita 66
Autosomal Recessive Larsen Syndrome 24
Larsen Syndrome, Recessive Type 66
Sed with Luxations, Chst3 Type 24
Dysplasia, Spondyloepiphyseal 25
Mucopolysaccharidosis Iv 66
Humero-Spinal Dysostosis 24
Sed, Omani Type 24
Sed Omani Type 68
Omani Type 11
Sedc-Jd 68
Cdmd 24
Hsd 68
Sed 23

Characteristics:

HPO:

62
spondyloepiphyseal dysplasia with congenital joint dislocations:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 143095
Disease Ontology11 DOID:0050813
MeSH37 D010009
ICD1028 Q77.7

Summaries for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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OMIM:50 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 fibrochondrogenesis, 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 dermatan sulfate biosynthesis and Articular Cartilage Extracellular Matrix Pathway. Affiliated tissues include bone and heart, and related mouse phenotypes are renal/urinary system and 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:24 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:46 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:68 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 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 106)
idRelated DiseaseScoreTop Affiliating Genes
1larsen syndrome30.2CANT1, CHST3, GALNS
2fibrochondrogenesis29.5CANT1, CHST3, SLC26A2
3spondyloepiphyseal dysplasia tarda12.5
4spondyloepiphyseal dysplasia, kimberley type12.3
5spondyloepiphyseal dysplasia, stanescu type12.3
6spondyloepiphyseal dysplasia-brachydactyly and distinctive speech12.2
7spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation12.2
8spondyloepiphyseal dysplasia, myopia, and sensorineural deafness12.2
9spondyloepiphyseal dysplasia tarda, autosomal dominant12.2
10spondyloepiphyseal dysplasia with atlantoaxial instability12.1
11spondyloepiphyseal dysplasia tarda with mental retardation12.1
12spondyloepiphyseal dysplasia tarda toledo type12.1
13sed congenita12.1
14schimke immunoosseous dysplasia11.9
15sed, maroteaux type11.9
16pseudoachondroplasia11.7
17roifman syndrome11.5
183-beta-hydroxysteroid dehydrogenase, type ii, deficiency11.5
19czech dysplasia11.4
20arthropathy, progressive pseudorheumatoid, of childhood11.3
21smed strudwick type11.3
22osteoarthritis with mild chondrodysplasia11.3
23brachyolmia type 211.1
24pseudoachondroplastic dysplasia 210.9
2517-beta-hydroxysteroid dehydrogenase x deficiency10.9
26cortisone reductase deficiency10.9
27spondyloperipheral dysplasia10.6
28kniest dysplasia10.5
29malignant pleural solitary fibrous tumor10.4COL2A1, GALNS
30arthropathy10.4
31achondrogenesis, type ii or hypochondrogenesis10.3COL2A1, GALNS
32osteoarthritis10.3
33multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects10.3
34heart disease10.2
35congenital heart disease10.2
36dysostosis10.2
37skeletal dysplasias10.2
38skeletal dysplasia10.2
39multiple epiphyseal dysplasia10.2
40lissencephaly, x-linked 210.1COL2A1, TRAPPC2, WISP3
41achondroplasia10.1
42nephrotic syndrome10.1
43cortisone reductase deficiency 210.1
44congenital adrenal hyperplasia10.1
45craniosynostosis10.1
46spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures10.0
47dyssegmental dysplasia, silverman-handmaker type10.0
48schneckenbecken dysplasia10.0
49spondylometaepiphyseal dysplasia, short limb-hand type10.0
50spondyloepimetaphyseal dysplasia10.0

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

UMLS symptoms related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:


waddling gait, respiratory distress

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 Dislocations25
2 Spondyloepiphyseal Dysplasia25 23 COL2A1
3 Chst3-Related Skeletal Dysplasia23 CHST3
4 Humerospinal Dysostosis23 CHST3
5 Spondyloepiphyseal Dysplasia, Omani Type23 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:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.0COL2A1, GALNS, SMARCA2, SMARCA4, SMARCAL1
2MP:00053907.2CHST3, COL2A1, GALNS, SLC26A2, SMARCA2, SMARCA4

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:

68
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
1CHST3NG_012635.1: g.48733G> Asingle nucleotide variantPathogenicrs747171013GRCh38Chr 10, 72008094: 72008094
2CHST3NM_004273.4(CHST3): c.911G> A (p.Arg304Gln)single nucleotide variantPathogenicrs28937593GRCh37Chr 10, 73767700: 73767700
3CHST3NM_004273.4(CHST3): c.776T> C (p.Leu259Pro)single nucleotide variantPathogenicrs121908616GRCh37Chr 10, 73767565: 73767565
4CHST3NM_004273.4(CHST3): c.1114G> A (p.Glu372Lys)single nucleotide variantPathogenicrs267606734GRCh37Chr 10, 73767903: 73767903
5CHST3NM_004273.4(CHST3): c.664C> T (p.Arg222Trp)single nucleotide variantPathogenicrs121908617GRCh37Chr 10, 73767453: 73767453
6CHST3NM_004273.4(CHST3): c.920T> C (p.Leu307Pro)single nucleotide variantPathogenicrs121908618GRCh37Chr 10, 73767709: 73767709
7CHST3CHST3, 1-BP DEL, 1086GdeletionPathogenic
8CHST3NM_004273.4(CHST3): c.603C> A (p.Tyr201Ter)single nucleotide variantPathogenicrs121908619GRCh37Chr 10, 73767392: 73767392
9CHST3NM_004273.4(CHST3): c.857T> C (p.Leu286Pro)single nucleotide variantPathogenicrs121908620GRCh37Chr 10, 73767646: 73767646
10CHST3NM_004273.4(CHST3): c.422C> T (p.Thr141Met)single nucleotide variantPathogenicrs267606735GRCh37Chr 10, 73767211: 73767211
11CHST3NM_004273.4(CHST3): c.475T> A (p.Phe159Ile)single nucleotide variantPathogenicrs145538723GRCh37Chr 10, 73767264: 73767264
12CHST3NM_004273.4(CHST3): c.481C> T (p.Leu161Phe)single nucleotide variantPathogenicrs267606733GRCh37Chr 10, 73767270: 73767270
13CHST3NM_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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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
1npBAF complexGO:00715649.4SMARCA2, SMARCA4
2SWI/SNF complexGO:00165149.3SMARCA2, SMARCA4
3nBAF complexGO:00715659.3SMARCA2, SMARCA4

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

idNameGO IDScoreTop Affiliating Genes
1sulfur compound metabolic processGO:00067909.9CHST2, CHST3

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:000151710.3CHST2, CHST3
2sulfotransferase activityGO:00081469.6CHST2, CHST3
3RNA polymerase II transcription coactivator activityGO:00011059.6SMARCA2, SMARCA4
4helicase activityGO:00043869.0SMARCA2, SMARCA4, SMARCAL1
5DNA-dependent ATPase activityGO:00080948.9SMARCA2, SMARCA4, SMARCAL1

Sources for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
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44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet