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

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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 Omani Type 70
Spondyloepiphyseal Dysplasia, Congenita 68
 
Autosomal Recessive Larsen Syndrome 25
Larsen Syndrome, Recessive Type 68
Sed with Luxations, Chst3 Type 25
Dysplasia, Spondyloepiphyseal 27
Mucopolysaccharidosis Iv 68
Humero-Spinal Dysostosis 25
Sed, Omani Type 25
Sed Omani Type 70
Omani Type 11
Sedcjd 70
Cdmd 25
Hsd 70
Sed 24

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 larsen syndrome, and has symptoms including high palate, hypertelorism and broad forehead. 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 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: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 68)
idRelated DiseaseScoreTop Affiliating Genes
1smed strudwick type32.4ACAN, COL2A1
2larsen syndrome30.0CANT1, CHST3, GALNS
3spondyloepiphyseal dysplasia tarda12.5
4spondyloepiphyseal dysplasia, stanescu type12.4
5spondyloepiphyseal dysplasia, kimberley type12.4
6sed congenita12.2
7spondyloepiphyseal dysplasia tarda, autosomal dominant12.1
8spondyloepiphyseal dysplasia-brachydactyly and distinctive speech12.1
9spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation12.1
10spondyloepiphyseal dysplasia, myopia, and sensorineural deafness12.1
11spondyloepiphyseal dysplasia with atlantoaxial instability12.0
12spondyloepiphyseal dysplasia tarda with mental retardation12.0
13sed, maroteaux type12.0
14schimke immunoosseous dysplasia12.0
15roifman syndrome11.7
16pseudoachondroplasia11.6
173-beta-hydroxysteroid dehydrogenase, type ii, deficiency11.5
18czech dysplasia11.3
19arthropathy, progressive pseudorheumatoid, of childhood11.2
20spondyloperipheral dysplasia11.2
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
25mucopolysaccharidosis iva10.9
26cortisone reductase deficiency 110.8
2717-beta-hydroxysteroid dehydrogenase x deficiency10.8
28cortisone reductase deficiency10.8
29malignant pleural solitary fibrous tumor10.4COL2A1, GALNS
30osteopathia striata with pigmentary dermopathy including white forelock10.4COL2A1, FGFR3
31acromesomelic dysplasia10.4ACAN, COL2A1
32osteopetrosis10.4ACAN, COL2A1
33achondrogenesis, type ii or hypochondrogenesis10.3COL2A1, GALNS
34syphilitic myelopathy10.3COL2A1, FGFR3
35bone resorption disease10.3ACAN, COL2A1
36toenail dystrophy, isolated10.3COL2A1, FGFR3
37stickler syndrome10.3COL2A1, SLC26A2
38chromosomal disease10.1ACAN, COL2A1
39heart disease10.1
40dysostosis10.1
41atrioventricular septal defect10.1FGFR3, SLC26A2
42slc40a1-related hereditary hemochromatosis10.1ACAN, COL2A1, FGFR3
43skeletal dysplasias10.1
44skeletal dysplasia10.1
45lissencephaly, x-linked 210.1COL2A1, TRAPPC2, WISP3
46atelosteogenesis ii10.1COL2A1, SLC26A2
47hypochondroplasia10.0ACAN, FGFR3
48leber congenital amaurosis 310.0ACAN, COL2A1, SLC26A2
493p- syndrome10.0SMARCA2, SMARCAL1
50immunodeficiency 3010.0ACAN, COL2A1, 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 63)
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 brachydactyly syndrome64 HP:0001156
12 barrel-shaped chest64 HP:0001552
13 ventricular septal defect64 HP:0001629
14 pulmonic stenosis64 HP:0001642
15 aortic valve stenosis64 HP:0001650
16 mitral regurgitation64 HP:0001653
17 aortic regurgitation64 HP:0001659
18 ventricular hypertrophy64 HP:0001714
19 mitral stenosis64 HP:0001718
20 talipes equinovarus64 HP:0001762
21 pes planus64 HP:0001763
22 pulmonary hypertension64 HP:0002092
23 delayed gross motor development64 HP:0002194
24 waddling gait64 HP:0002515
25 highly arched eyebrow64 HP:0002553
26 spondyloepiphyseal dysplasia64 HP:0002655
27 delayed skeletal maturation64 HP:0002750
28 kyphoscoliosis64 HP:0002751
29 arthralgia64 HP:0002829
30 genu valgum64 HP:0002857
31 lumbar hyperlordosis64 HP:0002938
32 intervertebral space narrowing64 HP:0002945
33 cubitus valgus64 HP:0002967
34 tibial bowing64 HP:0002982
35 hypoplasia of the ulna64 HP:0003022
36 ulnar bowing64 HP:0003031
37 arthropathy64 HP:0003040
38 elbow dislocation64 HP:0003042
39 flattened epiphysis64 HP:0003071
40 hypoplasia of the capital femoral epiphysis64 HP:0003090
41 limited hip extension64 HP:0003093
42 decreased hip abduction64 HP:0003184
43 irregular vertebral endplates64 HP:0003301
44 coronal cleft vertebrae64 HP:0003417
45 shoulder dislocation64 HP:0003834
46 knee dislocation64 HP:0004976
47 tricuspid regurgitation64 HP:0005180
48 multiple carpal ossification centers64 HP:0006067
49 generalized bone demineralization64 HP:0006462
50 fixed elbow flexion64 HP:0006471
51 wide intermamillary distance64 HP:0006610
52 bilateral single transverse palmar creases64 HP:0007598
53 narrow vertebral interpedicular distance64 HP:0008450
54 microtia64 HP:0008551
55 rhizomelia64 HP:0008905
56 deviation of the 5th finger64 HP:0009179
57 short phalanx of finger64 HP:0009803
58 short distal phalanx of finger64 HP:0009882
59 short metacarpal64 HP:0010049
60 tricuspid stenosis64 HP:0010446
61 small epiphyses64 HP:0010585
62 camptodactyly of finger64 HP:0100490
63 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:00053679.1COL2A1, FGFR3, GALNS, SMARCA2, SMARCAL1
2MP:00053907.5CHST3, COL2A1, FGFR3, GALNS, SLC26A2, SMARCA2

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 26)
id Gene Variation Type Significance SNP ID Assembly Location
1COL2A1NM_001844.4(COL2A1): c.3490_3597del108deletionPathogenicGRCh38Chr 12, 47975961: 47976351
2COL2A1COL2A1, 45-BP DUP, EX48duplicationPathogenicChr na, -1: -1
3COL2A1NM_001844.4(COL2A1): c.3589G> A (p.Gly1197Ser)SNVLikely pathogenic, Pathogenicrs121912870GRCh37Chr 12, 48369754: 48369754
4COL2A1NM_001844.4(COL2A1): c.2965C> T (p.Arg989Cys)SNVPathogenicrs121912874GRCh37Chr 12, 48372112: 48372112
5COL2A1NM_001844.4(COL2A1): c.3517G> C (p.Gly1173Arg)SNVPathogenicrs121912883GRCh37Chr 12, 48369826: 48369826
6COL2A1NM_001844.4(COL2A1): c.4316C> T (p.Thr1439Met)SNVLikely pathogenic, Pathogenicrs121912886GRCh37Chr 12, 48367873: 48367873
7COL2A1NM_001844.4(COL2A1): c.1358G> C (p.Gly453Ala)SNVPathogenicrs794727339GRCh37Chr 12, 48380868: 48380868
8COL2A1NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser)SNVPathogenicrs121912880GRCh37Chr 12, 48380136: 48380136
9GALNSNM_000512.4(GALNS): c.421T> A (p.Trp141Arg)SNVLikely pathogenic, Pathogenicrs794727625GRCh37Chr 16, 88907401: 88907401
10COL2A1NM_001844.4(COL2A1): c.3301G> A (p.Gly1101Arg)SNVPathogenicrs864621973GRCh37Chr 12, 48370911: 48370911
11CHST3NM_004273.4(CHST3): c.1063G> A (p.Gly355Arg)SNVPathogenicrs747171013GRCh37Chr 10, 73767852: 73767852
12COL2A1NM_001844.4(COL2A1): c.1636G> A (p.Gly546Ser)SNVPathogenicrs886044555GRCh37Chr 12, 48379555: 48379555
13CHST3NM_004273.4(CHST3): c.911G> A (p.Arg304Gln)SNVPathogenicrs28937593GRCh37Chr 10, 73767700: 73767700
14CHST3NM_004273.4(CHST3): c.776T> C (p.Leu259Pro)SNVPathogenicrs121908616GRCh37Chr 10, 73767565: 73767565
15CHST3NM_004273.4(CHST3): c.1114G> A (p.Glu372Lys)SNVPathogenicrs267606734GRCh37Chr 10, 73767903: 73767903
16CHST3NM_004273.4(CHST3): c.664C> T (p.Arg222Trp)SNVPathogenicrs121908617GRCh37Chr 10, 73767453: 73767453
17CHST3NM_004273.4(CHST3): c.920T> C (p.Leu307Pro)SNVPathogenicrs121908618GRCh37Chr 10, 73767709: 73767709
18CHST3CHST3, 1-BP DEL, 1086GdeletionPathogenicChr na, -1: -1
19CHST3NM_004273.4(CHST3): c.603C> A (p.Tyr201Ter)SNVPathogenicrs121908619GRCh37Chr 10, 73767392: 73767392
20CHST3NM_004273.4(CHST3): c.857T> C (p.Leu286Pro)SNVPathogenicrs121908620GRCh37Chr 10, 73767646: 73767646
21CHST3NM_004273.4(CHST3): c.422C> T (p.Thr141Met)SNVPathogenicrs267606735GRCh37Chr 10, 73767211: 73767211
22CHST3NM_004273.4(CHST3): c.475T> A (p.Phe159Ile)SNVPathogenicrs145538723GRCh37Chr 10, 73767264: 73767264
23CHST3NM_004273.4(CHST3): c.481C> T (p.Leu161Phe)SNVPathogenicrs267606733GRCh37Chr 10, 73767270: 73767270
24CHST3NM_004273.4(CHST3): c.988C> T (p.Gln330Ter)SNVPathogenicrs267606732GRCh37Chr 10, 73767777: 73767777
25GALNSNM_000512.4(GALNS): c.337A> T (p.Ile113Phe)SNVPathogenicrs118204438GRCh37Chr 16, 88907485: 88907485
26GLB1NM_000404.3(GLB1): c.601C> T (p.Arg201Cys)SNVLikely pathogenic, Pathogenicrs72555360GRCh37Chr 3, 33099713: 33099713

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
19.6ACAN, CHST3, COL2A1
29.4ACAN, 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
1proteinaceous extracellular matrixGO:00055789.4ACAN, COL2A1, WISP3

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

idNameGO IDScoreTop Affiliating Genes
1collagen fibril organizationGO:003019910.4ACAN, COL2A1
2chondrocyte differentiationGO:000206210.4COL2A1, FGFR3
3keratan sulfate catabolic processGO:004234010.4ACAN, GALNS
4endochondral ossificationGO:000195810.4COL2A1, FGFR3
5proteoglycan biosynthetic processGO:003016610.1ACAN, CANT1
6skeletal system developmentGO:00015019.1ACAN, COL2A1, FGFR3, TRAPPC2

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

idNameGO IDScoreTop Affiliating Genes
1DNA-dependent ATPase activityGO:00080949.9SMARCA2, SMARCAL1
2helicase activityGO:00043869.3SMARCA2, SMARCAL1

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