MCID: SPN209
MIFTS: 55

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 53 12 24 71 28 13 14
Spondyloepiphyseal Dysplasia 12 72 49 28 51 69
Chondrodysplasia with Multiple Dislocations 53 12 24
Spondyloepiphyseal Dysplasia, Omani Type 53 24 69
Chst3-Related Skeletal Dysplasia 12 23 24
Humerospinal Dysostosis 53 12 71
Kozlowski Celermajer Tink Syndrome 12 69
Sedcjd 53 71
Cdmd 53 24
Hsd 53 71
Chondrodysplasia with Congenital Joint Dislocations, Chst3 Type 23
Humero-Spinal Dysostosis with Congenital Heart Disease 12
Chondrodysplasia with Multiple Dislocations; Cdmd 53
Spondyloepiphyseal Dysplasia Omani Type 71
Spondyloepiphyseal Dysplasia, Congenita 69
Autosomal Recessive Larsen Syndrome 24
Larsen Syndrome, Recessive Type 69
Sed with Luxations, Chst3 Type 24
Humerospinal Dysostosis; Hsd 53
Mucopolysaccharidosis Iv 69
Humero-Spinal Dysostosis 24
Chst3-Related Dysplasia 23
Chst3 Deficiency 23
Sed, Omani Type 24
Sed Omani Type 71
Omani Type 12

Characteristics:

OMIM:

53
Miscellaneous:
waddling gait

Inheritance:
autosomal recessive


HPO:

31
spondyloepiphyseal dysplasia with congenital joint dislocations:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

OMIM : 53 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 spondyloepiphyseal dysplasia congenita and brachyolmia, and has symptoms including arthralgia, waddling gait and hypertelorism. An important gene associated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations is CHST3 (Carbohydrate Sulfotransferase 3), and among its related pathways/superpathways are Neural Crest Differentiation and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone, heart and skin, and related phenotypes are renal/urinary system and skeleton

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.

NIH Rare Diseases : 49 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

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.

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.

Wikipedia : 72 Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of... more...

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 84)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia congenita 33.4 COL2A1 FGFR3 GALNS
2 brachyolmia 31.6 COL2A1 GALNS
3 kniest dysplasia 31.0 COL2A1 GALNS
4 dysostosis 29.7 CHST3 FGFR3
5 skeletal dysplasias 29.6 COL2A1 FGFR3 TRAPPC2
6 spondyloepiphyseal dysplasia, maroteaux type 12.6
7 spondyloepiphyseal dysplasia tarda, x-linked 12.6
8 spondyloepiphyseal dysplasia, stanescu type 12.5
9 spondyloepiphyseal dysplasia, kimberley type 12.5
10 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 12.4
11 spondyloepiphyseal dysplasia tarda, autosomal dominant 12.2
12 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness 12.2
13 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 12.2
14 schimke immunoosseous dysplasia 12.1
15 spondyloepiphyseal dysplasia tarda with mental retardation 12.1
16 spondyloepiphyseal dysplasia with atlantoaxial instability 12.1
17 spondyloepiphyseal dysplasia with punctate corneal dystrophy 11.9
18 spondyloepiphyseal dysplasia tarda, autosomal recessive 11.9
19 spondyloepiphyseal dysplasia tarda with characteristic facies 11.9
20 spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger type 11.9
21 roifman syndrome 11.8
22 pseudoachondroplasia 11.7
23 3-beta-hydroxysteroid dehydrogenase deficiency 11.7
24 arthropathy, progressive pseudorheumatoid, of childhood 11.7
25 osteoarthritis with mild chondrodysplasia 11.5
26 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 11.5
27 czech dysplasia 11.4
28 spondyloperipheral dysplasia 11.3
29 spondyloepimetaphyseal dysplasia, genevieve type 11.3
30 spondyloepimetaphyseal dysplasia, strudwick type 11.3
31 brachyolmia type 2 11.3
32 brachyolmia type 1, toledo type 11.1
33 cortisone reductase deficiency 2 11.1
34 stickler syndrome, type i 11.0
35 brachyolmia type 3 11.0
36 mucopolysaccharidosis, type iva 11.0
37 pseudoachondroplastic dysplasia 2 10.9
38 cortisone reductase deficiency 1 10.9
39 cortisone reductase deficiency 10.9
40 dyggve-melchior-clausen disease 10.5
41 arthropathy 10.3
42 osteoarthritis 10.3
43 heart disease 10.2
44 dyssegmental dysplasia, silverman-handmaker type 10.2
45 blood group, i system 10.2
46 achondrogenesis, type ia 10.1 ACAN COL2A1
47 cartilage disease 10.1 ACAN COL2A1
48 achondrogenesis, type ii 10.1 ACAN COL2A1
49 hypochondrogenesis 10.0 ACAN COL2A1
50 larsen syndrome 10.0

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 & Phenotypes for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
hypertelorism
sparse and high-arched eyebrows (in some patients)

Skeletal Spine:
scoliosis
coronal cleft vertebrae
lumbar lordosis
kyphosis (onset 3-6 months)
kyphoscoliosis, severe progressive (>12 years old)
more
Skeletal Feet:
pes planus
talipes equinovarus
camptodactyly (present at birth)
club feet
accessory ossification centers

Skeletal Hands:
brachydactyly
transverse palmar crease
short metacarpals
short phalanges
camptodactyly (present at birth)
more
Neurologic Central Nervous System:
delayed gross motor development
normal intelligence

Skin Nails Hair Skin:
transverse palmar crease

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

Head And Neck Mouth:
high-arched palate

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

Head And Neck Neck:
short neck

Head And Neck Teeth:
widely spaced teeth
microdontia
delayed dentition

Skeletal Limbs:
cubitus valgus
shoulder dislocation
rhizomelic shortening
elbow dislocation/subluxation
fixed elbow flexion (birth)
more
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
Skeletal:
spondyloepiphyseal dysplasia
delayed bone age
diffuse osseous demineralization
joint dislocations, congenital or in young adult (knee, hip, shoulder)
joint contractures, onset school age (shoulder, ankle)

Cardiovascular Vascular:
pulmonary hypertension

Head And Neck Ears:
small ears
deafness

Chest Breasts:
widely spaced nipples

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:

31 (show top 50) (show all 72)
# Description HPO Frequency HPO Source Accession
1 arthralgia 31 hallmark (90%) HP:0002829
2 waddling gait 31 hallmark (90%) HP:0002515
3 hypertelorism 31 hallmark (90%) HP:0000316
4 short neck 31 HP:0000470
5 genu valgum 31 hallmark (90%) HP:0002857
6 high palate 31 HP:0000218
7 hearing impairment 31 HP:0000365
8 widely spaced teeth 31 HP:0000687
9 delayed skeletal maturation 31 HP:0002750
10 pes planus 31 HP:0001763
11 microtia 31 HP:0008551
12 flexion contracture 31 hallmark (90%) HP:0001371
13 long philtrum 31 frequent (33%) HP:0000343
14 pulmonary arterial hypertension 31 HP:0002092
15 disproportionate short-trunk short stature 31 hallmark (90%) HP:0003521
16 delayed eruption of teeth 31 frequent (33%) HP:0000684
17 abnormal form of the vertebral bodies 31 hallmark (90%) HP:0003312
18 microdontia 31 HP:0000691
19 cubitus valgus 31 hallmark (90%) HP:0002967
20 wide intermamillary distance 31 HP:0006610
21 shield chest 31 HP:0000914
22 broad forehead 31 frequent (33%) HP:0000337
23 rhizomelia 31 hallmark (90%) HP:0008905
24 mitral regurgitation 31 HP:0001653
25 brachydactyly 31 hallmark (90%) HP:0001156
26 bilateral single transverse palmar creases 31 HP:0007598
27 elbow dislocation 31 HP:0003042
28 flattened epiphysis 31 HP:0003071
29 ventricular septal defect 31 HP:0001629
30 talipes equinovarus 31 HP:0001762
31 pulmonic stenosis 31 HP:0001642
32 highly arched eyebrow 31 frequent (33%) HP:0002553
33 short distal phalanx of finger 31 HP:0009882
34 camptodactyly of finger 31 HP:0100490
35 hypoplasia of the ulna 31 HP:0003022
36 short metacarpal 31 frequent (33%) HP:0010049
37 motor delay 31 frequent (33%) HP:0001270
38 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
39 aortic valve stenosis 31 HP:0001650
40 kyphoscoliosis 31 frequent (33%) HP:0002751
41 shoulder dislocation 31 HP:0003834
42 mitral stenosis 31 HP:0001718
43 delayed gross motor development 31 HP:0002194
44 sparse eyebrow 31 hallmark (90%) HP:0045075
45 tricuspid regurgitation 31 HP:0005180
46 short phalanx of finger 31 HP:0009803
47 aortic regurgitation 31 HP:0001659
48 barrel-shaped chest 31 hallmark (90%) HP:0001552
49 lumbar hyperlordosis 31 HP:0002938
50 generalized bone demineralization 31 HP:0006462

UMLS symptoms related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:


respiratory distress, waddling gait

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.26 COL2A1 FGFR3 GALNS SMARCAL1
2 skeleton MP:0005390 9.02 CHST3 COL2A1 FGFR3 GALNS SMARCAL1

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Genetic tests related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

# Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 28 CHST3
2 Spondyloepiphyseal Dysplasia 28

Anatomical Context for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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

38
Bone, Heart, Skin

Publications for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Articles related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

(show top 50) (show all 178)
# Title Authors Year
1
A novel<i>de novo</i>mutation in<i>COL2A1</i>leading to spondyloepiphyseal dysplasia congenita in a Chinese family. ( 29354277 )
2018
2
Awake fibreoptic intubation for caesarean section in a patient with spondyloepiphyseal dysplasia congenita. ( 29103886 )
2018
3
A novel mutation in the C-propeptide of<i>COL2A1</i>causes atypical spondyloepiphyseal dysplasia congenita. ( 28265456 )
2017
4
Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families. ( 27753269 )
2017
5
Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results. ( 28141691 )
2017
6
Upper Cervical Fusion in Children With Spondyloepiphyseal Dysplasia Congenita. ( 26683502 )
2017
7
Airway stenting in a child with spondyloepiphyseal dysplasia congenita: 13-Year survival. ( 28688555 )
2017
8
A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred. ( 26572954 )
2016
9
Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling. ( 26358419 )
2016
10
Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder. ( 27890699 )
2016
11
Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families. ( 27059630 )
2016
12
Spondyloepiphyseal Dysplasia Congenita in a painting of Vicente LA^pez y PortaA+a (1825). ( 26670922 )
2016
13
Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family. ( 27401665 )
2016
14
[Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. ( 26252088 )
2015
15
A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2. ( 26594095 )
2015
16
Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita. ( 25967556 )
2015
17
Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita. ( 26030151 )
2015
18
Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type. ( 26183434 )
2015
19
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. ( 25604898 )
2015
20
[Identification of a novel mutation of COL2A1 gene in a Chinese family affected with spondyloepiphyseal dysplasia congenita]. ( 25863096 )
2015
21
Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient. ( 26142023 )
2015
22
Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1. ( 25900302 )
2015
23
Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families. ( 25553839 )
2015
24
A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree. ( 24841781 )
2014
25
Spondyloepiphyseal dysplasia tarda with progressive arthropathy associated with subcapsular cataract. ( 24862418 )
2014
26
A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family. ( 24736929 )
2014
27
[Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda]. ( 25297591 )
2014
28
A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. ( 23876379 )
2013
29
A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita. ( 23932928 )
2013
30
Structural variations in articular cartilage matrix are associated with early-onset osteoarthritis in the spondyloepiphyseal dysplasia congenita (sedc) mouse. ( 23939426 )
2013
31
Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature. ( 22381876 )
2013
32
Spondyloepiphyseal dysplasias and bilateral legg-calvAc-perthes disease: diagnostic considerations for mucopolysaccharidoses. ( 23657977 )
2013
33
X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree. ( 22563562 )
2012
34
Incidental finding of Tc-99m MDP bone scintigraphy in a case of X-linked spondyloepiphyseal dysplasia tarda. ( 22228351 )
2012
35
Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia. ( 23079993 )
2012
36
Biomedical and social aspects of spondyloepiphyseal dysplasia tarda cases from bengkulu district of indonesia. ( 23675282 )
2012
37
A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation. ( 22028304 )
2012
38
Spectrum of intra-articular findings of the acute and subacute painful hip with multiple epiphyseal dysplasia/spondyloepiphyseal dysplasia. ( 21691226 )
2011
39
Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family. ( 21204228 )
2011
40
Modified lightwand intubation in a child with spondyloepiphyseal dysplasia congenita. ( 21729813 )
2011
41
Spondyloepiphyseal dysplasia tarda with progressive arthropathy complicated with paraplegia. ( 21273896 )
2011
42
Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita. ( 21924244 )
2011
43
Large Osteochondral Fracture in a Patient with Bilateral Bicondylar Osteochondritis Dissecans and Spondyloepiphyseal Dysplasia Tarda. ( 26815696 )
2010
44
Spondyloepiphyseal dysplasia congenita. ( 20055564 )
2010
45
A rare genetic disease - spondyloepiphyseal dysplasia. ( 21034660 )
2010
46
Cone-rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: report of a new case without nephronophtisis. ( 18478593 )
2009
47
A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. ( 19766614 )
2009
48
Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3. ( 19320654 )
2009
49
Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda. ( 19002213 )
2009
50
Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda. ( 19650763 )
2009

Variations for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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

71
# 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 16)
# 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
14 CHST3 NM_004273.4(CHST3): c.533dup (p.Ala179Argfs) duplication Pathogenic/Likely pathogenic rs769540174 GRCh38 Chromosome 10, 72007564: 72007564
15 CHST3 NM_004273.4(CHST3): c.904G> C (p.Asp302His) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 72007935: 72007935
16 CHST3 NM_004273.4(CHST3): c.491C> T (p.Pro164Leu) single nucleotide variant Pathogenic rs771866012 GRCh37 Chromosome 10, 73767280: 73767280

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:

# Super pathways Score Top Affiliating Genes
1 11.27 COL2A1 FGFR3
2 11.14 ACAN COL2A1
3 10.94 ACAN COL2A1 FGFR3
4 10.4 ACAN COL2A1 FGFR3
5 10.36 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:

# Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 8.96 ACAN GALNS
2 basement membrane GO:0005604 8.62 ACAN COL2A1

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

# Name GO ID Score Top Affiliating Genes
1 collagen fibril organization GO:0030199 9.32 ACAN COL2A1
2 chondrocyte differentiation GO:0002062 9.26 COL2A1 FGFR3
3 endochondral ossification GO:0001958 9.16 COL2A1 FGFR3
4 keratan sulfate catabolic process GO:0042340 8.96 ACAN GALNS
5 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:

# 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
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10 dbSNP
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16 ExPASy
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