SEDCJD
MCID: SPN209
MIFTS: 56

Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (SEDCJD)

Categories: Bone diseases, Eye diseases, Genetic diseases, Rare 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 57 12 25 75 37 29 13 6 15 40
Spondyloepiphyseal Dysplasia 12 76 53 29 55 6 73
Chondrodysplasia with Multiple Dislocations 57 12 25
Spondyloepiphyseal Dysplasia, Omani Type 57 25 73
Chst3-Related Skeletal Dysplasia 12 24 25
Humerospinal Dysostosis 57 12 75
Kozlowski Celermajer Tink Syndrome 12 73
Sedcjd 57 75
Cdmd 57 25
Hsd 57 75
Chondrodysplasia with Congenital Joint Dislocations, Chst3 Type 24
Humero-Spinal Dysostosis with Congenital Heart Disease 12
Chondrodysplasia with Multiple Dislocations; Cdmd 57
Spondyloepiphyseal Dysplasia Omani Type 75
Spondyloepiphyseal Dysplasia, Congenita 73
Autosomal Recessive Larsen Syndrome 25
Larsen Syndrome, Recessive Type 73
Sed with Luxations, Chst3 Type 25
Humerospinal Dysostosis; Hsd 57
Mucopolysaccharidosis Iv 73
Humero-Spinal Dysostosis 25
Chst3-Related Dysplasia 24
Chst3 Deficiency 24
Sed, Omani Type 25
Sed Omani Type 75
Omani Type 12

Characteristics:

OMIM:

57
Miscellaneous:
waddling gait

Inheritance:
autosomal recessive


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 : 57 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 pseudoachondroplasia, and has symptoms including respiratory distress and waddling gait. An important gene associated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations is CHST3 (Carbohydrate Sulfotransferase 3), and among its related pathways/superpathways are Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate and Endochondral Ossification. Affiliated tissues include bone, heart and eye, and related phenotypes are hypertelorism and short neck

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.

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 : 53 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.

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 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 157)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia congenita 33.9 SLC26A2 GALNS FGFR3 COL2A1
2 pseudoachondroplasia 32.9 SLC26A2 ACAN
3 brachyolmia 31.8 GALNS COL2A1
4 kniest dysplasia 31.2 GALNS COL2A1
5 larsen syndrome 30.4 GALNS CHST3
6 achondroplasia 30.4 FGFR3 ACAN
7 multiple epiphyseal dysplasia 30.3 SLC26A2 COL2A1 ACAN
8 diastrophic dysplasia 30.3 SLC26A2 COL2A1
9 dwarfism 30.0 RNU4ATAC FGFR3
10 spondyloepimetaphyseal dysplasia, matrilin-3 related 29.9 TRAPPC2 SMARCAL1 GALNS COL2A1 CHST3
11 scoliosis 29.5 FGFR3 COL2A1 CANT1 ACAN
12 spondyloepiphyseal dysplasia, maroteaux type 12.8
13 spondyloepiphyseal dysplasia tarda, x-linked 12.7
14 spondyloepiphyseal dysplasia, stanescu type 12.7
15 spondyloepiphyseal dysplasia, kimberley type 12.6
16 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 12.5
17 spondyloepiphyseal dysplasia tarda, autosomal dominant 12.4
18 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness 12.3
19 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 12.3
20 schimke immunoosseous dysplasia 12.3
21 spondyloepiphyseal dysplasia tarda with mental retardation 12.3
22 spondyloepiphyseal dysplasia with atlantoaxial instability 12.3
23 spondyloepiphyseal dysplasia tarda with characteristic facies 12.2
24 spondyloepiphyseal dysplasia with punctate corneal dystrophy 12.1
25 spondyloepiphyseal dysplasia tarda, autosomal recessive 12.1
26 spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger type 12.1
27 arthropathy, progressive pseudorheumatoid, of childhood 12.0
28 roifman syndrome 12.0
29 3-beta-hydroxysteroid dehydrogenase deficiency 11.8
30 spondyloperipheral dysplasia 11.7
31 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 11.7
32 czech dysplasia 11.6
33 spondyloepimetaphyseal dysplasia, genevieve type 11.5
34 spondyloepimetaphyseal dysplasia, strudwick type 11.4
35 osteoarthritis with mild chondrodysplasia 11.4
36 brachyolmia type 2 11.4
37 brachyolmia type 1, toledo type 11.2
38 cortisone reductase deficiency 2 11.2
39 stickler syndrome, type i 11.1
40 brachyolmia type 3 11.1
41 mucopolysaccharidosis, type iva 11.1
42 pseudoachondroplastic dysplasia 2 11.1
43 cortisone reductase deficiency 1 11.1
44 cortisone reductase deficiency 11.1
45 dyggve-melchior-clausen disease 10.7
46 arthropathy 10.5
47 osteoarthritis 10.5
48 dyssegmental dysplasia, silverman-handmaker type 10.3
49 heart disease 10.3
50 dysostosis 10.3

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:

57
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:

32 (show top 50) (show all 71)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 hallmark (90%) HP:0000316
2 short neck 32 HP:0000470
3 genu valgum 32 hallmark (90%) HP:0002857
4 high palate 32 HP:0000218
5 hearing impairment 32 HP:0000365
6 widely spaced teeth 32 HP:0000687
7 delayed skeletal maturation 32 HP:0002750
8 pes planus 32 HP:0001763
9 microtia 32 HP:0008551
10 flexion contracture 32 hallmark (90%) HP:0001371
11 arthralgia 32 hallmark (90%) HP:0002829
12 long philtrum 32 frequent (33%) HP:0000343
13 pulmonary arterial hypertension 32 HP:0002092
14 disproportionate short-trunk short stature 32 hallmark (90%) HP:0003521
15 delayed eruption of teeth 32 frequent (33%) HP:0000684
16 abnormal form of the vertebral bodies 32 hallmark (90%) HP:0003312
17 microdontia 32 HP:0000691
18 cubitus valgus 32 hallmark (90%) HP:0002967
19 wide intermamillary distance 32 HP:0006610
20 shield chest 32 HP:0000914
21 waddling gait 32 hallmark (90%) HP:0002515
22 motor delay 32 frequent (33%) HP:0001270
23 talipes equinovarus 32 HP:0001762
24 broad forehead 32 frequent (33%) HP:0000337
25 rhizomelia 32 hallmark (90%) HP:0008905
26 mitral regurgitation 32 HP:0001653
27 brachydactyly 32 hallmark (90%) HP:0001156
28 bilateral single transverse palmar creases 32 HP:0007598
29 elbow dislocation 32 HP:0003042
30 flattened epiphysis 32 HP:0003071
31 ventricular septal defect 32 HP:0001629
32 pulmonic stenosis 32 HP:0001642
33 highly arched eyebrow 32 frequent (33%) HP:0002553
34 short distal phalanx of finger 32 HP:0009882
35 camptodactyly of finger 32 HP:0100490
36 hypoplasia of the ulna 32 HP:0003022
37 short metacarpal 32 frequent (33%) HP:0010049
38 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680
39 aortic valve stenosis 32 HP:0001650
40 kyphoscoliosis 32 frequent (33%) HP:0002751
41 delayed gross motor development 32 HP:0002194
42 shoulder dislocation 32 HP:0003834
43 mitral stenosis 32 HP:0001718
44 sparse eyebrow 32 hallmark (90%) HP:0045075
45 tricuspid regurgitation 32 HP:0005180
46 aortic regurgitation 32 HP:0001659
47 knee dislocation 32 HP:0004976
48 barrel-shaped chest 32 hallmark (90%) HP:0001552
49 lumbar hyperlordosis 32 HP:0002938
50 generalized bone demineralization 32 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:

46
# 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

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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 29 CHST3
2 Spondyloepiphyseal Dysplasia 29 COL2A1

Anatomical Context for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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

41
Bone, Heart, Eye, Skin, Lung, Kidney, Ovary

Publications for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Articles related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

(show top 50) (show all 262)
# Title Authors Year
1
A Rare Form of Corneal Opacity Associated with Spondyloepiphyseal Dysplasia Congenita. ( 29643796 )
2018
2
A novel<i>de novo</i>mutation in<i>COL2A1</i>leading to spondyloepiphyseal dysplasia congenita in a Chinese family. ( 29354277 )
2018
3
Awake fibreoptic intubation for caesarean section in a patient with spondyloepiphyseal dysplasia congenita. ( 29103886 )
2018
4
A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2. ( 30083037 )
2018
5
Total Hip Arthroplasty Reduces Pain and Improves Function in Patients With Spondyloepiphyseal Dysplasia: A Long-Term Outcome Study of 50 Cases. ( 30528131 )
2018
6
A novel mutation in the C-propeptide of<i>COL2A1</i>causes atypical spondyloepiphyseal dysplasia congenita. ( 28265456 )
2017
7
Upper Cervical Fusion in Children With Spondyloepiphyseal Dysplasia Congenita. ( 26683502 )
2017
8
Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families. ( 27753269 )
2017
9
Airway stenting in a child with spondyloepiphyseal dysplasia congenita: 13-Year survival. ( 28688555 )
2017
10
Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results. ( 28141691 )
2017
11
Prospects and limitations of improving skeletal growth in a mouse model of spondyloepiphyseal dysplasia caused by R992C (p.R1192C) substitution in collagen II. ( 28182776 )
2017
12
Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family. ( 27401665 )
2016
13
A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred. ( 26572954 )
2016
14
Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families. ( 27059630 )
2016
15
Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling. ( 26358419 )
2016
16
Spondyloepiphyseal Dysplasia Congenita in a painting of Vicente LA^pez y PortaA+a (1825). ( 26670922 )
2016
17
Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder. ( 27890699 )
2016
18
Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu. ( 26420734 )
2016
19
A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity. ( 27274858 )
2016
20
General anaesthesia for parturients with spondyloepiphyseal dysplasia: Risky but possible! ( 27330211 )
2016
21
Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1. ( 25900302 )
2015
22
Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita. ( 26030151 )
2015
23
[Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. ( 26252088 )
2015
24
Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient. ( 26142023 )
2015
25
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
26
Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type. ( 26183434 )
2015
27
[Identification of a novel mutation of COL2A1 gene in a Chinese family affected with spondyloepiphyseal dysplasia congenita]. ( 25863096 )
2015
28
Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families. ( 25553839 )
2015
29
Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita. ( 25967556 )
2015
30
A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2. ( 26594095 )
2015
31
Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia. ( 25060605 )
2015
32
Mechanisms of aberrant organization of growth plates in conditional transgenic mouse model of spondyloepiphyseal dysplasia associated with the R992C substitution in collagen II. ( 25451152 )
2015
33
[Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda]. ( 25297591 )
2014
34
A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family. ( 24736929 )
2014
35
Spondyloepiphyseal dysplasia tarda with progressive arthropathy associated with subcapsular cataract. ( 24862418 )
2014
36
A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree. ( 24841781 )
2014
37
Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature. ( 22381876 )
2013
38
A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. ( 23876379 )
2013
39
A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita. ( 23932928 )
2013
40
Structural variations in articular cartilage matrix are associated with early-onset osteoarthritis in the spondyloepiphyseal dysplasia congenita (sedc) mouse. ( 23939426 )
2013
41
True generalized microdontia and hypodontia with spondyloepiphyseal dysplasia. ( 24416601 )
2013
42
Biomedical and social aspects of spondyloepiphyseal dysplasia tarda cases from bengkulu district of indonesia. ( 23675282 )
2012
43
Incidental finding of Tc-99m MDP bone scintigraphy in a case of X-linked spondyloepiphyseal dysplasia tarda. ( 22228351 )
2012
44
Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia. ( 23079993 )
2012
45
A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation. ( 22028304 )
2012
46
X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree. ( 22563562 )
2012
47
Spectrum of intra-articular findings of the acute and subacute painful hip with multiple epiphyseal dysplasia/spondyloepiphyseal dysplasia. ( 21691226 )
2011
48
Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family. ( 21204228 )
2011
49
Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita. ( 21924244 )
2011
50
Spondyloepiphyseal dysplasia tarda with progressive arthropathy complicated with paraplegia. ( 21273896 )
2011

Variations for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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

75
# 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 top 50) (show all 424)
# 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.911G> A (p.Arg304Gln) single nucleotide variant Pathogenic rs28937593 GRCh38 Chromosome 10, 72007942: 72007942
3 CHST3 NM_004273.4(CHST3): c.776T> C (p.Leu259Pro) single nucleotide variant Pathogenic rs121908616 GRCh37 Chromosome 10, 73767565: 73767565
4 CHST3 NM_004273.4(CHST3): c.776T> C (p.Leu259Pro) single nucleotide variant Pathogenic rs121908616 GRCh38 Chromosome 10, 72007807: 72007807
5 CHST3 NM_004273.4(CHST3): c.1114G> A (p.Glu372Lys) single nucleotide variant Pathogenic rs267606734 GRCh37 Chromosome 10, 73767903: 73767903
6 CHST3 NM_004273.4(CHST3): c.1114G> A (p.Glu372Lys) single nucleotide variant Pathogenic rs267606734 GRCh38 Chromosome 10, 72008145: 72008145
7 CHST3 NM_004273.4(CHST3): c.664C> T (p.Arg222Trp) single nucleotide variant Pathogenic rs121908617 GRCh37 Chromosome 10, 73767453: 73767453
8 CHST3 NM_004273.4(CHST3): c.664C> T (p.Arg222Trp) single nucleotide variant Pathogenic rs121908617 GRCh38 Chromosome 10, 72007695: 72007695
9 CHST3 NM_004273.4(CHST3): c.920T> C (p.Leu307Pro) single nucleotide variant Pathogenic rs121908618 GRCh37 Chromosome 10, 73767709: 73767709
10 CHST3 NM_004273.4(CHST3): c.920T> C (p.Leu307Pro) single nucleotide variant Pathogenic rs121908618 GRCh38 Chromosome 10, 72007951: 72007951
11 CHST3 CHST3, 1-BP DEL, 1086G deletion Pathogenic
12 CHST3 NM_004273.4(CHST3): c.603C> A (p.Tyr201Ter) single nucleotide variant Pathogenic rs121908619 GRCh37 Chromosome 10, 73767392: 73767392
13 CHST3 NM_004273.4(CHST3): c.603C> A (p.Tyr201Ter) single nucleotide variant Pathogenic rs121908619 GRCh38 Chromosome 10, 72007634: 72007634
14 CHST3 NM_004273.4(CHST3): c.857T> C (p.Leu286Pro) single nucleotide variant Pathogenic rs121908620 GRCh37 Chromosome 10, 73767646: 73767646
15 CHST3 NM_004273.4(CHST3): c.857T> C (p.Leu286Pro) single nucleotide variant Pathogenic rs121908620 GRCh38 Chromosome 10, 72007888: 72007888
16 CHST3 NM_004273.4(CHST3): c.422C> T (p.Thr141Met) single nucleotide variant Pathogenic rs267606735 GRCh37 Chromosome 10, 73767211: 73767211
17 CHST3 NM_004273.4(CHST3): c.422C> T (p.Thr141Met) single nucleotide variant Pathogenic rs267606735 GRCh38 Chromosome 10, 72007453: 72007453
18 CHST3 NM_004273.4(CHST3): c.475T> A (p.Phe159Ile) single nucleotide variant Uncertain significance rs145538723 GRCh37 Chromosome 10, 73767264: 73767264
19 CHST3 NM_004273.4(CHST3): c.475T> A (p.Phe159Ile) single nucleotide variant Uncertain significance rs145538723 GRCh38 Chromosome 10, 72007506: 72007506
20 CHST3 NM_004273.4(CHST3): c.481C> T (p.Leu161Phe) single nucleotide variant Pathogenic rs267606733 GRCh37 Chromosome 10, 73767270: 73767270
21 CHST3 NM_004273.4(CHST3): c.481C> T (p.Leu161Phe) single nucleotide variant Pathogenic rs267606733 GRCh38 Chromosome 10, 72007512: 72007512
22 CHST3 NM_004273.4(CHST3): c.988C> T (p.Gln330Ter) single nucleotide variant Pathogenic rs267606732 GRCh37 Chromosome 10, 73767777: 73767777
23 CHST3 NM_004273.4(CHST3): c.988C> T (p.Gln330Ter) single nucleotide variant Pathogenic rs267606732 GRCh38 Chromosome 10, 72008019: 72008019
24 COL2A1 NM_001844.4(COL2A1): c.3490_3597del108 deletion Pathogenic GRCh38 Chromosome 12, 47975961: 47976351
25 COL2A1 NM_001844.4(COL2A1): c.3490_3597del108 deletion Pathogenic GRCh37 Chromosome 12, 48369744: 48370134
26 COL2A1 COL2A1, 45-BP DUP, EX48 duplication Pathogenic
27 COL2A1 NM_001844.4(COL2A1): c.3589G> A (p.Gly1197Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121912870 GRCh37 Chromosome 12, 48369754: 48369754
28 COL2A1 NM_001844.4(COL2A1): c.3589G> A (p.Gly1197Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121912870 GRCh38 Chromosome 12, 47975971: 47975971
29 COL2A1 NM_001844.4(COL2A1): c.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 GRCh37 Chromosome 12, 48372112: 48372112
30 COL2A1 NM_001844.4(COL2A1): c.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 GRCh38 Chromosome 12, 47978329: 47978329
31 COL2A1 NM_001844.4(COL2A1): c.3517G> C (p.Gly1173Arg) single nucleotide variant Pathogenic rs121912883 GRCh37 Chromosome 12, 48369826: 48369826
32 COL2A1 NM_001844.4(COL2A1): c.3517G> C (p.Gly1173Arg) single nucleotide variant Pathogenic rs121912883 GRCh38 Chromosome 12, 47976043: 47976043
33 COL2A1 NM_001844.4(COL2A1): c.4316C> T (p.Thr1439Met) single nucleotide variant Likely pathogenic rs121912886 GRCh37 Chromosome 12, 48367873: 48367873
34 COL2A1 NM_001844.4(COL2A1): c.4316C> T (p.Thr1439Met) single nucleotide variant Likely pathogenic rs121912886 GRCh38 Chromosome 12, 47974090: 47974090
35 COL2A1 NM_001844.4(COL2A1): c.1358G> C (p.Gly453Ala) single nucleotide variant Pathogenic rs794727339 GRCh37 Chromosome 12, 48380868: 48380868
36 COL2A1 NM_001844.4(COL2A1): c.1358G> C (p.Gly453Ala) single nucleotide variant Pathogenic rs794727339 GRCh38 Chromosome 12, 47987085: 47987085
37 COL2A1 NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser) single nucleotide variant Pathogenic rs121912880 GRCh37 Chromosome 12, 48380136: 48380136
38 COL2A1 NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser) single nucleotide variant Pathogenic rs121912880 GRCh38 Chromosome 12, 47986353: 47986353
39 CHST3 NM_004273.4(CHST3): c.417C> T (p.Ala139=) single nucleotide variant Conflicting interpretations of pathogenicity rs144287889 GRCh37 Chromosome 10, 73767206: 73767206
40 CHST3 NM_004273.4(CHST3): c.417C> T (p.Ala139=) single nucleotide variant Conflicting interpretations of pathogenicity rs144287889 GRCh38 Chromosome 10, 72007448: 72007448
41 COL2A1 NM_001844.4(COL2A1): c.3275G> A (p.Gly1092Asp) single nucleotide variant Likely pathogenic rs794727684 GRCh37 Chromosome 12, 48370937: 48370937
42 COL2A1 NM_001844.4(COL2A1): c.3275G> A (p.Gly1092Asp) single nucleotide variant Likely pathogenic rs794727684 GRCh38 Chromosome 12, 47977154: 47977154
43 COL2A1 NM_001844.4(COL2A1): c.3301G> A (p.Gly1101Arg) single nucleotide variant Pathogenic rs864621973 GRCh37 Chromosome 12, 48370911: 48370911
44 COL2A1 NM_001844.4(COL2A1): c.3301G> A (p.Gly1101Arg) single nucleotide variant Pathogenic rs864621973 GRCh38 Chromosome 12, 47977128: 47977128
45 TRAPPC2 NM_001128835.2(TRAPPC2): c.12G> A (p.Trp4Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs746032983 GRCh37 Chromosome X, 13752240: 13752240
46 TRAPPC2 NM_001128835.2(TRAPPC2): c.12G> A (p.Trp4Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs746032983 GRCh38 Chromosome X, 13734121: 13734121
47 CHST3 NM_004273.4(CHST3): c.1063G> A (p.Gly355Arg) single nucleotide variant Pathogenic rs747171013 GRCh38 Chromosome 10, 72008094: 72008094
48 CHST3 NM_004273.4(CHST3): c.1063G> A (p.Gly355Arg) single nucleotide variant Pathogenic rs747171013 GRCh37 Chromosome 10, 73767852: 73767852
49 CHST3 NM_004273.4(CHST3): c.1347C> T (p.Arg449=) single nucleotide variant Conflicting interpretations of pathogenicity rs200249458 GRCh37 Chromosome 10, 73768136: 73768136
50 CHST3 NM_004273.4(CHST3): c.1347C> T (p.Arg449=) single nucleotide variant Conflicting interpretations of pathogenicity rs200249458 GRCh38 Chromosome 10, 72008378: 72008378

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 KEGG:

37
# Name Kegg Source Accession
1 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate hsa00532

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

# Super pathways Score Top Affiliating Genes
1 10.94 ACAN COL2A1 FGFR3
2 10.36 ACAN CHST3 COL2A1

GO Terms for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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 9.4 ACAN COL2A1
2 chondrocyte differentiation GO:0002062 9.37 COL2A1 FGFR3
3 endochondral ossification GO:0001958 9.32 COL2A1 FGFR3
4 cartilage condensation GO:0001502 9.26 ACAN COL2A1
5 proteoglycan biosynthetic process GO:0030166 9.16 ACAN CANT1
6 keratan sulfate catabolic process GO:0042340 8.96 ACAN GALNS
7 skeletal system development GO:0001501 8.92 ACAN COL2A1 FGFR3 TRAPPC2

Sources for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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
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44 MeSH
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49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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