SEDCJD
MCID: SPN209
MIFTS: 66

Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (SEDCJD)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic 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 56 12 52 25 73 36 29 13 6 15 37 39
Spondyloepiphyseal Dysplasia 12 74 52 54 71 32
Chst3-Related Skeletal Dysplasia 12 24 52 25 58
Spondyloepiphyseal Dysplasia, Omani Type 56 52 25 71
Humerospinal Dysostosis 56 12 52 73
Chondrodysplasia with Congenital Joint Dislocations, Chst3 Type 24 52 58
Chondrodysplasia with Multiple Dislocations 56 12 25
Spondyloepiphyseal Dysplasia with Congenital Joint Dyslocations, Chst3 Type 52 58
Kozlowski Celermajer Tink Syndrome 12 71
Sedcjd 56 73
Cdmd 56 25
Hsd 56 73
Humero-Spinal Dysostosis with Congenital Heart Disease 12
Chondrodysplasia with Multiple Dislocations; Cdmd 56
Spondyloepiphyseal Dysplasia Omani Type 73
Spondyloepiphyseal Dysplasia, Congenita 71
Autosomal Recessive Larsen Syndrome 25
Spondylo-Epi- -Physeal Dysplasia 6
Larsen Syndrome, Recessive Type 71
Sed with Luxations, Chst3 Type 25
Humerospinal Dysostosis; Hsd 56
Recessive Larsen Syndrome 24
Mucopolysaccharidosis Iv 71
Humero-Spinal Dysostosis 25
Chst3-Related Dysplasia 24
Chst3 Deficiency 24
Sdcd, Chst3 Type 58
Sed, Omani Type 25
Sed Omani Type 73
Omani Type 12

Characteristics:

Orphanet epidemiological data:

58
chst3-related skeletal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

56
Miscellaneous:
waddling gait

Inheritance:
autosomal recessive


HPO:

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


Classifications:

Orphanet: 58  
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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. CHST3 CHST3 Researchers have not settled on a preferred name for this condition. It is sometimes known as autosomal recessive Larsen syndrome based on its similarity to another skeletal disorder called Larsen syndrome. Other names that have been used to describe the condition include spondyloepiphyseal dysplasia, Omani type; humero-spinal dysostosis; and chondrodysplasia with multiple dislocations. Recently, researchers have proposed the umbrella term CHST3-related skeletal dysplasia to refer to bone and joint abnormalities resulting from mutations in the CHST3 gene. CHST3 CHST3

MalaCards based summary : Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations, also known as spondyloepiphyseal dysplasia, is related to spondyloepiphyseal dysplasia tarda, x-linked and spondyloepiphyseal dysplasia, maroteaux type, and has symptoms including waddling gait and respiratory distress. An important gene associated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations is CHST3 (Carbohydrate Sulfotransferase 3), and among its related pathways/superpathways are Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate and Phospholipase-C Pathway. The drugs Pharmaceutical Solutions and Losartan have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and skin, and related phenotypes are hypertelorism and flexion contracture

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.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) is also known as SED Omani type. Knees, hip and elbow dislocations are common. Thoracic kyphoscoliosis develops in late childhood. Affected individuals are homozygous for a missense mutation of CHST3 encoding the enzyme chondroitin 6-O-sulfotransferase-1 (C6ST-1).

UniProtKB/Swiss-Prot : 73 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 : 74 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 287)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia tarda, x-linked 35.0 TRAPPC2B TRAPPC2 CCN6
2 spondyloepiphyseal dysplasia, maroteaux type 34.7 TRPV4 GALNS
3 arthropathy, progressive pseudorheumatoid, of childhood 34.2 TRAPPC2B TRAPPC2 CCN6
4 spondyloepimetaphyseal dysplasia, strudwick type 33.1 SEMA3A COL2A1
5 spondyloepiphyseal dysplasia congenita 33.0 TRAPPC2B TRAPPC2 SEMA3A GALNS COMP COL9A1
6 brachyolmia 32.2 TRPV4 SLC26A2 SEMA3A COL2A1
7 pseudoachondroplasia 31.9 SLC26A2 COMP COL9A2 COL9A1 COL2A1 ACAN
8 hypochondrogenesis 31.8 TRAPPC2B SLC26A2 SEMA3A COL9A1 COL2A1 ACAN
9 dyggve-melchior-clausen disease 31.7 TRAPPC2 GALNS
10 marshall syndrome 31.3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
11 type ii collagen disorders 31.0 TRPV4 COL2A1
12 spondyloepimetaphyseal dysplasia, missouri type 31.0 SEMA3A ACAN
13 dysostosis 30.7 RNU6ATAC RNU4ATAC FGFR3 CHST3
14 morquio syndrome 30.7 TRPV4 GALNS
15 larsen syndrome 30.5 SLC26A2 GALNS COL2A1 CHST3
16 dwarfism 30.5 TRPV4 RNU4ATAC FGFR3
17 achondroplasia 30.5 FGFR3 COMP COL2A1 ACAN
18 brittle bone disorder 30.4 FGFR3 COL2A1 ACAN
19 arthropathy 30.4 TRPV4 COMP COL2A1 CCN6 ACAN
20 retinal detachment 30.4 COL9A2 COL9A1 COL2A1 COL11A1
21 vitreoretinal degeneration 30.3 COL9A2 COL2A1 COL11A1
22 kniest dysplasia 30.2 SEMA3A GALNS COL9A2 COL9A1 COL2A1 COL11A2
23 hypochondroplasia 30.2 FGFR3 COMP COL2A1
24 schneckenbecken dysplasia 30.2 TRAPPC2B SLC26A2 COL2A1 COL11A2 COL11A1
25 legg-calve-perthes disease 30.2 SLC26A2 GALNS COL9A1 COL2A1
26 osteoarthritis 30.2 COMP COL9A1 COL2A1 COL11A2 ACAN
27 skeletal dysplasias 30.2 TRPV4 FGFR3 COMP COL2A1
28 desbuquois dysplasia 30.2 SLC26A2 CHST3
29 metatropic dysplasia 30.0 TRPV4 SEMA3A GALNS COL2A1
30 chondromalacia 30.0 COMP ACAN
31 strabismus 29.9 FGFR3 COL9A1 COL2A1 COL11A1
32 achondrogenesis, type ii 29.9 SEMA3A COMP COL2A1 COL11A2
33 myopia 29.9 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1 ACAN
34 osteochondrosis 29.8 GALNS COL9A2 COL9A1 COL2A1 ACAN
35 bone disease 29.8 TRAPPC2 FGFR3 COMP COL2A1 ACAN
36 vitreous syneresis 29.8 COL9A2 COL2A1 COL11A2 COL11A1
37 fibrochondrogenesis 29.7 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1 ACAN
38 scoliosis 29.4 TRPV4 FGFR3 COMP COL2A1 CCN6 ACAN
39 stickler syndrome 29.4 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
40 diastrophic dysplasia 29.3 SLC26A2 COMP COL9A2 COL9A1 COL2A1
41 otospondylomegaepiphyseal dysplasia, autosomal recessive 29.3 COMP COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
42 spinal stenosis 29.2 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1 ACAN
43 cleft palate, isolated 29.2 FGFR3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
44 osteochondritis dissecans 29.2 COMP COL9A2 COL9A1 COL2A1 ACAN
45 epiphyseal dysplasia, multiple, 1 29.1 SLC26A2 COMP COL9A2 COL9A1
46 clubfoot 29.0 TRPV4 SLC26A2 COL9A2 COL9A1 COL2A1 CHST3
47 brachydactyly 28.9 TRPV4 SMARCA2 RNU6ATAC RNU4ATAC FGFR3 COMP
48 achondrogenesis 28.6 TRAPPC2B TRAPPC2 SLC26A2 COMP COL9A2 COL9A1
49 multiple epiphyseal dysplasia 28.3 TRAPPC2 SLC26A2 FGFR3 COMP COL9A2 COL9A1
50 spondyloepimetaphyseal dysplasia, matrilin-3 related 25.3 TRPV4 TRAPPC2B TRAPPC2 SMARCAL1 SMARCA2 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

Human phenotypes related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

58 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 flexion contracture 58 31 hallmark (90%) Very frequent (99-80%) HP:0001371
3 genu valgum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002857
4 disproportionate short-trunk short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003521
5 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
6 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
7 cubitus valgus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002967
8 waddling gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002515
9 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
10 rhizomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008905
11 sparse eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0045075
12 irregular epiphyses 58 31 hallmark (90%) Very frequent (99-80%) HP:0010582
13 enlarged joints 58 31 hallmark (90%) Very frequent (99-80%) HP:0003037
14 barrel-shaped chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0001552
15 small epiphyses 58 31 hallmark (90%) Very frequent (99-80%) HP:0010585
16 intervertebral space narrowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002945
17 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
18 kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002751
19 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
20 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
21 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
22 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
23 short metacarpal 58 31 frequent (33%) Frequent (79-30%) HP:0010049
24 abnormality of cardiovascular system morphology 58 31 frequent (33%) Frequent (79-30%) HP:0030680
25 sparse and thin eyebrow 31 frequent (33%) HP:0000535
26 hearing impairment 31 HP:0000365
27 delayed skeletal maturation 31 HP:0002750
28 short neck 31 HP:0000470
29 scoliosis 58 Very frequent (99-80%)
30 widely spaced teeth 31 HP:0000687
31 pes planus 31 HP:0001763
32 microtia 31 HP:0008551
33 microdontia 31 HP:0000691
34 pulmonary arterial hypertension 31 HP:0002092
35 wide intermamillary distance 31 HP:0006610
36 high palate 31 HP:0000218
37 shield chest 31 HP:0000914
38 talipes equinovarus 31 HP:0001762
39 mitral regurgitation 31 HP:0001653
40 bilateral single transverse palmar creases 31 HP:0007598
41 ventricular septal defect 31 HP:0001629
42 pulmonic stenosis 31 HP:0001642
43 abnormality of the elbow 58 Very frequent (99-80%)
44 short distal phalanx of finger 31 HP:0009882
45 elbow dislocation 31 HP:0003042
46 camptodactyly of finger 31 HP:0100490
47 hypoplasia of the ulna 31 HP:0003022
48 shoulder dislocation 31 HP:0003834
49 delayed gross motor development 31 HP:0002194
50 mitral stenosis 31 HP:0001718

Symptoms via clinical synopsis from OMIM:

56
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
club feet
camptodactyly (present at birth)
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

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.8 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 FGFR3
2 limbs/digits/tail MP:0005371 9.7 COL11A1 COL2A1 COL9A1 COL9A2 COMP FGFR3
3 renal/urinary system MP:0005367 9.5 COL2A1 FGFR3 GALNS SEMA3A SMARCA2 SMARCAL1
4 skeleton MP:0005390 9.44 CHST3 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Drugs for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2
Losartan Approved Phase 2 114798-26-4 3961
3
Angiotensin II Approved, Investigational Phase 2 4474-91-3, 11128-99-7, 68521-88-0 172198
4
Morphine Approved, Investigational Phase 2 57-27-2 5288826
5 Angiotensin II Type 1 Receptor Blockers Phase 2
6 Angiotensinogen Phase 2
7 Angiotensin Receptor Antagonists Phase 2
8 Antihypertensive Agents Phase 2
9 Giapreza Phase 2
10 Anti-Arrhythmia Agents Phase 2

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
2 A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3 BMN 110 - Weekly;BMN 110 - Every Other Week
3 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Clinical Study to Evaluate the Efficacy and Safety of 2.0 mg/kg/Week and 2.0 mg/kg/Every Other Week BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01275066 Phase 3 BMN 110 Weekly;Placebo;BMN 110 Every Other Week
4 A Phase 1/2, Multicenter, Open-label, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) Completed NCT00884949 Phase 1, Phase 2 BMN 110
5 A Phase 2, Open-label, Multinational Clinical Study to Evaluate the Safety and Efficacy of BMN 110 in Pediatric Patients Less Than 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01515956 Phase 2 BMN 110
6 A Randomized Clinical Trial to Evaluate the Effects of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI Recruiting NCT03632213 Phase 2 Losartan;Placebo
7 A Multicenter, Multinational, Open-Label, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Terminated NCT01242111 Phase 1, Phase 2 BMN 110
8 A Phase 2, Open-label, Multinational Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Who Have Limited Ambulation Terminated NCT01697319 Phase 2 BMN 110
9 A Randomized, Double-Blind, Pilot Study of the Safety and Physiological Effects of Two Doses of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Terminated NCT01609062 Phase 2 BMN 110;BMN 110
10 A Multicenter, Open-label BMN 110 US Expanded Access Program (BMN 110 US EAP) to Provide BMN 110 to Patients Diagnosed With MPS IVA Approved for marketing NCT01858103 BMN 110
11 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
12 Psychological Concomitants of Morquio Syndrome Completed NCT01752296
13 Gait Analysis in Patients With MPS IVA Treated With Enzyme Replacement Therapy Completed NCT01920828
14 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome Completed NCT01961518
15 Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy Completed NCT02208661
16 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
17 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Morquio Disease Completed NCT03872713
18 A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Recruiting NCT02294877 Vimizim® (elosulfase alfa)
19 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
20 Natural History of Atypical Morquio A Disease: a 5-years Prospective Study in a Series of 9 Adult Patients Followed in a Single Expert Center Recruiting NCT03204370 Elosulfase Alfa 1 MG/ML Intravenous Solution [VIMIZIM]
21 Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them? Recruiting NCT03150069
22 Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01457456
23 Natural History of Morquio B and Late-Onset GM1 Gangliosidosis Not yet recruiting NCT04320329
24 A Multicenter, Multinational, Longitudinal Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) Terminated NCT00787995
25 Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population Terminated NCT01675674
26 Discovering New Biomarkers for Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA (MPSIVA) Terminated NCT01733615
27 Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa Withdrawn NCT02153255

Search NIH Clinical Center for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Inferred drug relations via UMLS 71 / NDF-RT 50 :


ELOSULFASE ALFA

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Stem-cell-based therapeutic approaches for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:
Umbilical cord blood ALDH+ cells (ALD-151) PMIDs: 10430905

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

Anatomical Context for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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

40
Bone, Heart, Skin, Brain, Eye, Spinal Cord, Kidney

Publications for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Articles related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

(show top 50) (show all 577)
# Title Authors PMID Year
1
Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3. 61 6 56 24
19320654 2009
2
Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. 6 24 56 61
18698629 2008
3
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. 61 24 56 6
18513679 2008
4
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. 61 56 24 6
15215498 2004
5
Spondyloepiphyseal dysplasia Omani type: a new recessive type of SED with progressive spinal involvement. 24 6 56 61
15098240 2004
6
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. 6 56 24
20830804 2010
7
A newly recognized chondrodysplasia with multiple dislocations. 6 56 24
15368507 2004
8
Humero-spinal dysostosis: report of the fourth case with emphasis on generalized skeletal involvement, abnormal craniofacial features, and mitral valve thickening. 56 6 24
9039660 1997
9
Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability. 56 6
23918704 2013
10
Humero-spinal dysostosis. 56 6
112567 1979
11
Humero-spinal dysostosis with congenital heart disease. 24 56
4814886 1974
12
CHST3-Related Skeletal Dysplasia 6 61
21882400 2011
13
Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families. 24 61
27753269 2017
14
A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred. 24 61
26572954 2016
15
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome. 24 61
24755949 2015
16
Osseous dysplasia with severe short stature, multiple dislocations, and delayed bone age: report on a second Lebanese patient. 56
17618475 2007
17
Long QT Syndrome 6
20301308 2003
18
Humeroradioulnar synostosis appearing as distal humeral bifurcation in a patient with distal phocomelia of the upper limbs and radial ectrodactyly. 56
6465206 1984
19
Apparent bifurcatio of distal humerous with oligoectro-syndactyly. 56
6305194 1983
20
Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases. 24
28229453 2017
21
Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations. 24
28396765 2017
22
Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome). 24
24300290 2014
23
A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita. 61 54
17509551 2007
24
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. 24
16801345 2007
25
A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene. 54 61
16957471 2006
26
R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia. 61 54
16237566 2005
27
A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. 61 54
16080123 2005
28
Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia. 54 61
15316971 2004
29
Spondyloepiphyseal dysplasia congenita with absent femoral head. 54 61
15076581 2004
30
A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. 54 61
12968670 2003
31
Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene. 61 54
12205105 2002
32
A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. 61 54
11424925 2001
33
Familial calcium crystal diseases: what have we learned? 54 61
11333354 2001
34
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. 61 54
10745044 2000
35
Familial and clinical aspects of calcium pyrophosphate deposition disease. 54 61
11123024 1999
36
Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders. 61 54
9711874 1998
37
Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collagen in the Kniest form of spondyloepiphyseal dysplasia. 54 61
8893763 1996
38
Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia--are there "hot spots" on COL2A1? 54 61
8877930 1996
39
Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation. 61 54
7705841 1995
40
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. 54 61
7847372 1995
41
Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis. 61 54
7738948 1995
42
Molecular genetics of the human chondrodysplasias-1995. 61 54
8825578 1995
43
The type II collagenopathies: a spectrum of chondrodysplasias. 61 54
8157027 1994
44
Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutation. 61 54
7866404 1994
45
A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia. 54 61
8019561 1994
46
Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia. 54 61
7700721 1994
47
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1). 54 61
8244341 1993
48
Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia. 61 54
8325895 1993
49
The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen. 54 61
8423604 1993
50
An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis. 61 54
1429602 1992

Variations for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

6 (show top 50) (show all 231) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHST3 NM_004273.5(CHST3):c.503T>G (p.Ile168Ser)SNV Pathogenic 828155 10:73767292-73767292 10:72007534-72007534
2 CHST3 NM_004273.5(CHST3):c.904G>C (p.Asp302His)SNV Pathogenic 478822 rs1316347883 10:73767693-73767693 10:72007935-72007935
3 CHST3 NM_004273.5(CHST3):c.491C>T (p.Pro164Leu)SNV Pathogenic 478823 rs771866012 10:73767280-73767280 10:72007522-72007522
4 CHST3 NM_004273.5(CHST3):c.1312C>T (p.Gln438Ter)SNV Pathogenic 522996 rs1416783446 10:73768101-73768101 10:72008343-72008343
5 CHST3 NM_004273.5(CHST3):c.776T>C (p.Leu259Pro)SNV Pathogenic 6041 rs121908616 10:73767565-73767565 10:72007807-72007807
6 CHST3 NM_004273.5(CHST3):c.1114G>A (p.Glu372Lys)SNV Pathogenic 6042 rs267606734 10:73767903-73767903 10:72008145-72008145
7 CHST3 NM_004273.5(CHST3):c.664C>T (p.Arg222Trp)SNV Pathogenic 6043 rs121908617 10:73767453-73767453 10:72007695-72007695
8 CHST3 NM_004273.5(CHST3):c.920T>C (p.Leu307Pro)SNV Pathogenic 6044 rs121908618 10:73767709-73767709 10:72007951-72007951
9 CHST3 NM_004273.5(CHST3):c.1086del (p.Arg363fs)deletion Pathogenic 6045 10:73767875-73767875 10:72008117-72008117
10 CHST3 NM_004273.5(CHST3):c.603C>A (p.Tyr201Ter)SNV Pathogenic 6046 rs121908619 10:73767392-73767392 10:72007634-72007634
11 CHST3 NM_004273.5(CHST3):c.857T>C (p.Leu286Pro)SNV Pathogenic 6047 rs121908620 10:73767646-73767646 10:72007888-72007888
12 CHST3 NM_004273.5(CHST3):c.422C>T (p.Thr141Met)SNV Pathogenic 6048 rs267606735 10:73767211-73767211 10:72007453-72007453
13 CHST3 NM_004273.5(CHST3):c.481C>T (p.Leu161Phe)SNV Pathogenic 6050 rs267606733 10:73767270-73767270 10:72007512-72007512
14 CHST3 NM_004273.5(CHST3):c.988C>T (p.Gln330Ter)SNV Pathogenic 6051 rs267606732 10:73767777-73767777 10:72008019-72008019
15 CHST3 NM_004273.5(CHST3):c.1063G>A (p.Gly355Arg)SNV Pathogenic 225684 rs747171013 10:73767852-73767852 10:72008094-72008094
16 CHST3 NM_004273.5(CHST3):c.533dup (p.Ala179fs)duplication Pathogenic/Likely pathogenic 432012 rs769540174 10:73767316-73767317 10:72007558-72007559
17 B3GALT6 NM_080605.4(B3GALT6):c.763C>T (p.Gln255Ter)SNV Likely pathogenic 666963 1:1168421-1168421 1:1233041-1233041
18 CHST3 NM_004273.5(CHST3):c.911G>A (p.Arg304Gln)SNV Conflicting interpretations of pathogenicity 6040 rs28937593 10:73767700-73767700 10:72007942-72007942
19 CHST3 NM_004273.5(CHST3):c.417C>T (p.Ala139=)SNV Conflicting interpretations of pathogenicity 196378 rs144287889 10:73767206-73767206 10:72007448-72007448
20 CHST3 NM_004273.5(CHST3):c.1135C>T (p.Leu379=)SNV Conflicting interpretations of pathogenicity 715153 10:73767924-73767924 10:72008166-72008166
21 CHST3 NM_004273.5(CHST3):c.423G>A (p.Thr141=)SNV Conflicting interpretations of pathogenicity 742648 10:73767212-73767212 10:72007454-72007454
22 CHST3 NM_004273.5(CHST3):c.1347C>T (p.Arg449=)SNV Conflicting interpretations of pathogenicity 283598 rs200249458 10:73768136-73768136 10:72008378-72008378
23 CHST3 NM_004273.5(CHST3):c.561G>C (p.Val187=)SNV Conflicting interpretations of pathogenicity 286649 rs147804585 10:73767350-73767350 10:72007592-72007592
24 CHST3 NM_004273.5(CHST3):c.570C>T (p.Asp190=)SNV Conflicting interpretations of pathogenicity 300562 rs367857089 10:73767359-73767359 10:72007601-72007601
25 CHST3 NM_004273.5(CHST3):c.828C>T (p.Arg276=)SNV Conflicting interpretations of pathogenicity 300563 rs140547825 10:73767617-73767617 10:72007859-72007859
26 CHST3 NM_004273.5(CHST3):c.1197C>T (p.Asp399=)SNV Conflicting interpretations of pathogenicity 300566 rs184636110 10:73767986-73767986 10:72008228-72008228
27 CHST3 NM_004273.5(CHST3):c.1251G>C (p.Thr417=)SNV Conflicting interpretations of pathogenicity 300567 rs140411224 10:73768040-73768040 10:72008282-72008282
28 CHST3 NM_004273.5(CHST3):c.886G>C (p.Val296Leu)SNV Uncertain significance 300564 rs762224143 10:73767675-73767675 10:72007917-72007917
29 CHST3 NM_004273.5(CHST3):c.*544C>TSNV Uncertain significance 300580 rs886047161 10:73768773-73768773 10:72009015-72009015
30 CHST3 NM_004273.5(CHST3):c.*1053A>TSNV Uncertain significance 300593 rs886047166 10:73769282-73769282 10:72009524-72009524
31 CHST3 NM_004273.5(CHST3):c.*1621C>GSNV Uncertain significance 300616 rs768478124 10:73769850-73769850 10:72010092-72010092
32 CHST3 NM_004273.5(CHST3):c.*1698C>GSNV Uncertain significance 300618 rs377338550 10:73769927-73769927 10:72010169-72010169
33 CHST3 NM_004273.5(CHST3):c.*3245G>ASNV Uncertain significance 300645 rs545967470 10:73771474-73771474 10:72011716-72011716
34 CHST3 NM_004273.5(CHST3):c.*2660C>TSNV Uncertain significance 300635 rs143743853 10:73770889-73770889 10:72011131-72011131
35 CHST3 NM_004273.5(CHST3):c.*4498A>GSNV Uncertain significance 300674 rs552578786 10:73772727-73772727 10:72012969-72012969
36 CHST3 NM_004273.5(CHST3):c.*4820C>TSNV Uncertain significance 300681 rs886047183 10:73773049-73773049 10:72013291-72013291
37 CHST3 NM_004273.5(CHST3):c.-51G>ASNV Uncertain significance 300554 rs202050418 10:73765550-73765550 10:72005792-72005792
38 CHST3 NM_004273.5(CHST3):c.348G>T (p.Glu116Asp)SNV Uncertain significance 300559 rs144885813 10:73767137-73767137 10:72007379-72007379
39 CHST3 NM_004273.5(CHST3):c.*238G>ASNV Uncertain significance 300570 rs543236876 10:73768467-73768467 10:72008709-72008709
40 CHST3 NM_004273.5(CHST3):c.*274C>TSNV Uncertain significance 300572 rs116508900 10:73768503-73768503 10:72008745-72008745
41 CHST3 NM_004273.5(CHST3):c.*346C>TSNV Uncertain significance 300574 rs76094341 10:73768575-73768575 10:72008817-72008817
42 CHST3 NM_004273.5(CHST3):c.*469C>ASNV Uncertain significance 300577 rs539699501 10:73768698-73768698 10:72008940-72008940
43 CHST3 NM_004273.5(CHST3):c.*851T>CSNV Uncertain significance 300584 rs886047163 10:73769080-73769080 10:72009322-72009322
44 CHST3 NM_004273.5(CHST3):c.*887A>GSNV Uncertain significance 300587 rs555113303 10:73769116-73769116 10:72009358-72009358
45 CHST3 NM_004273.5(CHST3):c.*981A>TSNV Uncertain significance 300589 rs573670057 10:73769210-73769210 10:72009452-72009452
46 CHST3 NM_004273.5(CHST3):c.*1009C>TSNV Uncertain significance 300591 rs190763138 10:73769238-73769238 10:72009480-72009480
47 CHST3 NM_004273.5(CHST3):c.*1185C>GSNV Uncertain significance 300601 rs373515105 10:73769414-73769414 10:72009656-72009656
48 CHST3 NM_004273.5(CHST3):c.*1256G>ASNV Uncertain significance 300603 rs886047169 10:73769485-73769485 10:72009727-72009727
49 CHST3 NM_004273.5(CHST3):c.*1584T>GSNV Uncertain significance 300615 rs886047171 10:73769813-73769813 10:72010055-72010055
50 CHST3 NM_004273.5(CHST3):c.*1960G>ASNV Uncertain significance 300623 rs886047172 10:73770189-73770189 10:72010431-72010431

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

73
# 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

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:

36
# 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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.75 SEMA3A FGFR3 COL9A2 COL9A1 COL2A1 COL11A2
2
Show member pathways
12.73 FGFR3 COMP COL9A2 COL9A1 COL2A1
3
Show member pathways
12.61 COMP COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
4
Show member pathways
12.58 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
5
Show member pathways
12.35 COMP COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
6
Show member pathways
11.9 COMP COL9A2 COL9A1 COL2A1
7 11.66 FGFR3 COL2A1 COL11A2
8 11.42 FGFR3 COL2A1 ACAN
9 11.38 COMP COL9A2 COL9A1 ACAN
10 10.81 COMP COL2A1 CHST3 ACAN
11 10.13 SEMA3A FGFR3 COL9A2 COL9A1 COL2A1 COL11A2

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 extracellular space GO:0005615 10.03 SEMA3A COMP COL9A2 COL9A1 COL2A1 COL11A2
2 extracellular region GO:0005576 10 SEMA3A GALNS FGFR3 COMP COL9A2 COL9A1
3 endoplasmic reticulum lumen GO:0005788 9.77 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
4 collagen trimer GO:0005581 9.55 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
5 collagen-containing extracellular matrix GO:0062023 9.5 COMP COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
6 TRAPP complex GO:0030008 9.46 TRAPPC2B TRAPPC2
7 collagen type IX trimer GO:0005594 9.4 COL9A2 COL9A1
8 collagen type XI trimer GO:0005592 9.32 COL11A2 COL11A1
9 extracellular matrix GO:0031012 9.23 COMP COL9A2 COL9A1 COL2A1 COL11A2 COL11A1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.71 SLC26A2 COMP COL2A1 COL11A1
2 extracellular matrix organization GO:0030198 9.7 COMP COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
3 skeletal system morphogenesis GO:0048705 9.65 COL2A1 COL11A2 COL11A1
4 chondrocyte differentiation GO:0002062 9.63 FGFR3 COL2A1 COL11A2
5 tissue homeostasis GO:0001894 9.56 COL2A1 COL11A2
6 cartilage development GO:0051216 9.56 COMP COL2A1 COL11A2 COL11A1
7 keratan sulfate catabolic process GO:0042340 9.55 GALNS ACAN
8 chondrocyte proliferation GO:0035988 9.54 FGFR3 COMP
9 cartilage condensation GO:0001502 9.54 COL2A1 COL11A1 ACAN
10 endochondral bone growth GO:0003416 9.52 FGFR3 COMP
11 proteoglycan metabolic process GO:0006029 9.51 COL2A1 COL11A1
12 chondrocyte development GO:0002063 9.5 COMP COL11A1 ACAN
13 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.49 TRPV4 COL2A1
14 tendon development GO:0035989 9.43 COMP COL11A1
15 collagen fibril organization GO:0030199 9.35 COMP COL2A1 COL11A2 COL11A1 ACAN
16 skeletal system development GO:0001501 9.17 TRAPPC2 FGFR3 COMP COL9A2 COL2A1 COL11A2

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 conferring tensile strength GO:0030020 9.35 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
2 pre-mRNA 5'-splice site binding GO:0030627 9.26 RNU6ATAC RNU4ATAC
3 extracellular matrix structural constituent GO:0005201 9.17 COMP COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
4 proteoglycan binding GO:0043394 9.16 COMP COL2A1

Sources for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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