MCID: SPN209
MIFTS: 45

Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

Name: Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 54 12 25 71 29 13 14
Spondyloepiphyseal Dysplasia 12 50 24 29 52 69
Chst3-Related Skeletal Dysplasia 12 23 24 25
Spondyloepiphyseal Dysplasia, Omani Type 24 25 69
Humerospinal Dysostosis 12 24 71
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 71
Spondyloepiphyseal Dysplasia, Congenita 69
Autosomal Recessive Larsen Syndrome 25
Larsen Syndrome, Recessive Type 69
Sed with Luxations, Chst3 Type 25
Mucopolysaccharidosis Iv 69
Humero-Spinal Dysostosis 25
Sed, Omani Type 25
Sed Omani Type 71
Omani Type 12
Sedcjd 71
Cdmd 25
Sed 24
Hsd 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
waddling gait


HPO:

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


Classifications:



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 clinical features, including 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, and affected individuals may receive an initial clinical diagnosis of Larsen syndrome (see 245600) or humerospinal dysostosis. 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 disc degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood; at this stage, the clinical features are those previously described as the Omani type of SED (summary by Unger et al., 2010). (143095)

MalaCards based summary : Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations, also known as spondyloepiphyseal dysplasia, is related to smed strudwick type and nephrotic syndrome, and has symptoms including brachydactyly, hypertelorism and lumbar hyperlordosis. 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, heart and skin, and related phenotype is skeleton.

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 : 71 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 : 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.

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.

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 106)
id Related Disease Score Top Affiliating Genes
1 smed strudwick type 32.4 ACAN COL2A1
2 nephrotic syndrome 30.0 CHST3 SLC26A2
3 spondyloepimetaphyseal dysplasia 29.9 ACAN COL2A1
4 fibrochondrogenesis 29.2 CANT1 CHST3 SLC26A2
5 spondyloepiphyseal dysplasia tarda 12.5
6 spondyloepiphyseal dysplasia, stanescu type 12.4
7 spondyloepiphyseal dysplasia, kimberley type 12.3
8 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 12.3
9 sed congenita 12.1
10 spondyloepiphyseal dysplasia tarda, autosomal dominant 12.1
11 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 12.1
12 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness 12.1
13 schimke immunoosseous dysplasia 12.0
14 spondyloepiphyseal dysplasia with atlantoaxial instability 12.0
15 spondyloepiphyseal dysplasia tarda with mental retardation 12.0
16 sed, maroteaux type 12.0
17 roifman syndrome 11.6
18 pseudoachondroplasia 11.6
19 arthropathy, progressive pseudorheumatoid, of childhood 11.6
20 3-beta-hydroxysteroid dehydrogenase deficiency 11.6
21 czech dysplasia 11.3
22 spondyloperipheral dysplasia 11.2
23 spondyloepimetaphyseal dysplasia, camera-genevieve type 11.2
24 osteoarthritis with mild chondrodysplasia 11.2
25 cortisone reductase deficiency 2 11.0
26 multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 10.9
27 brachyolmia type 3 10.9
28 brachyolmia 10.9
29 mucopolysaccharidosis iva 10.9
30 stickler syndrome, type i 10.9
31 pseudoachondroplastic dysplasia 2 10.8
32 brachyolmia type 2 10.8
33 cortisone reductase deficiency 1 10.8
34 2-methyl-3-hydroxybutyric aciduria 10.8
35 cortisone reductase deficiency 10.8
36 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 10.8
37 cerebral hemorrhage 10.5 ACAN COL2A1
38 kniest dysplasia 10.4
39 acromesomelic dysplasia 10.4 ACAN COL2A1
40 syringobulbia 10.4 COL2A1 FGFR3
41 stickler syndrome 10.3 COL2A1 SLC26A2
42 bone structure disease 10.3 ACAN COL2A1
43 polyglucosan body disease, adult form 10.3 COL2A1 FGFR3
44 bone resorption disease 10.3 ACAN COL2A1
45 achondrogenesis, type ii or hypochondrogenesis 10.3 COL2A1 GALNS
46 malignant pleural solitary fibrous tumor 10.3 COL2A1 GALNS
47 arthropathy 10.2
48 atelosteogenesis ii 10.2 COL2A1 SLC26A2
49 chromosomal disease 10.2 ACAN COL2A1
50 osteoarthritis 10.2

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 & Phenotypes for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
high-arched palate

Head And Neck- Teeth:
delayed dentition
widely spaced teeth
microdontia

Skeletal- Hands:
brachydactyly
short metacarpals
short phalanges
hypoplastic terminal phalanges
transverse palmar crease
more
Skeletal- Feet:
club feet
talipes equinovarus
pes planus
camptodactyly (present at birth)
accessory ossification centers

Chest- Breasts:
widely spaced nipples

Cardiovascular- Heart:
ventricular septal defect
hypertrophy of all 4 chambers of heart
mitral valve, thickening to severe stenosis
mitral regurgitation, mild to moderate
tricuspid valve, thickening to severe stenosis
more
Cardiovascular- Vascular:
pulmonary hypertension

Growth- Height:
normal birth length
length <3rd percentile by 6 months
short stature, prenatal and postnatal
adult height 110-130cm

Head And Neck- Face:
broad forehead (in some patients)
long philtrum (in some patients)

Skeletal- Pelvis:
limited hip abduction/extension (progressive from birth)
iliac bones widened
iliac bones prominent

Skeletal- Spine:
scoliosis
lumbar lordosis
kyphosis (onset 3-6 months)
coronal cleft vertebrae
kyphoscoliosis, severe progressive (>12 years old)
more
Skeletal:
delayed bone age
spondyloepiphyseal dysplasia
diffuse osseous demineralization
joint dislocations, congenital or in young adult (knee, hip, shoulder)
joint contractures, onset school age (shoulder, ankle)

Head And Neck- Eyes:
hypertelorism
sparse and high-arched eyebrows (in some patients)

Skeletal- Limbs:
rhizomelic shortening
cubitus valgus
elbow dislocation/subluxation
fixed elbow flexion (birth)
joint enlargement (knee, elbow, wrist)
more
Head And Neck- Neck:
short neck

Neurologic- Central Nervous System:
normal intelligence
delayed gross motor development

Head And Neck- Ears:
small ears
deafness

Skin Nails & Hair- Skin:
transverse palmar crease

Chest- External Features:
broad chest (neonate)
hunched up shoulders (more prominent in adults)
barrel-shaped chest (more prominent in adults)


Clinical features from OMIM:

143095

Human phenotypes related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

32 (show top 50) (show all 72)
id Description HPO Frequency HPO Source Accession
1 brachydactyly 32 hallmark (90%) HP:0001156
2 hypertelorism 32 hallmark (90%) HP:0000316
3 lumbar hyperlordosis 32 HP:0002938
4 tibial bowing 32 HP:0002982
5 kyphoscoliosis 32 frequent (33%) HP:0002751
6 elbow dislocation 32 HP:0003042
7 genu valgum 32 hallmark (90%) HP:0002857
8 talipes equinovarus 32 HP:0001762
9 short neck 32 HP:0000470
10 broad forehead 32 frequent (33%) HP:0000337
11 ventricular septal defect 32 HP:0001629
12 ventricular hypertrophy 32 HP:0001714
13 long philtrum 32 frequent (33%) HP:0000343
14 knee dislocation 32 HP:0004976
15 waddling gait 32 hallmark (90%) HP:0002515
16 pulmonic stenosis 32 HP:0001642
17 motor delay 32 frequent (33%) HP:0001270
18 arthropathy 32 HP:0003040
19 pes planus 32 HP:0001763
20 high palate 32 HP:0000218
21 irregular vertebral endplates 32 HP:0003301
22 rhizomelia 32 hallmark (90%) HP:0008905
23 widely spaced teeth 32 HP:0000687
24 cubitus valgus 32 hallmark (90%) HP:0002967
25 barrel-shaped chest 32 hallmark (90%) HP:0001552
26 microtia 32 HP:0008551
27 microdontia 32 HP:0000691
28 delayed skeletal maturation 32 HP:0002750
29 spondyloepiphyseal dysplasia 32 HP:0002655
30 pulmonary arterial hypertension 32 HP:0002092
31 short femoral neck 32 HP:0100864
32 multiple carpal ossification centers 32 HP:0006067
33 delayed gross motor development 32 HP:0002194
34 arthralgia 32 hallmark (90%) HP:0002829
35 tricuspid regurgitation 32 HP:0005180
36 aortic regurgitation 32 HP:0001659
37 hearing impairment 32 HP:0000365
38 mitral regurgitation 32 HP:0001653
39 enlarged joints 32 hallmark (90%) HP:0003037
40 limited hip extension 32 HP:0003093
41 aortic valve stenosis 32 HP:0001650
42 ulnar bowing 32 HP:0003031
43 short metacarpal 32 frequent (33%) HP:0010049
44 small epiphyses 32 hallmark (90%) HP:0010585
45 decreased hip abduction 32 HP:0003184
46 mitral stenosis 32 HP:0001718
47 tricuspid stenosis 32 HP:0010446
48 coronal cleft vertebrae 32 HP:0003417
49 shoulder dislocation 32 HP:0003834
50 delayed eruption of teeth 32 frequent (33%) HP:0000684

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, Skin

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:

71
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
2 proteinaceous extracellular matrix GO:0005578 8.96 ACAN COL2A1

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 collagen fibril organization GO:0030199 9.37 ACAN COL2A1
2 chondrocyte differentiation GO:0002062 9.32 COL2A1 FGFR3
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
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48 NDF-RT
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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