SEDCJD
MCID: SPN209
MIFTS: 61

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 57 12 25 74 37 29 13 6 15 40
Spondyloepiphyseal Dysplasia 12 75 53 29 55 6 72 33
Chst3-Related Skeletal Dysplasia 12 24 25 59
Chondrodysplasia with Multiple Dislocations 57 12 25
Spondyloepiphyseal Dysplasia, Omani Type 57 25 72
Humerospinal Dysostosis 57 12 74
Chondrodysplasia with Congenital Joint Dislocations, Chst3 Type 24 59
Kozlowski Celermajer Tink Syndrome 12 72
Sedcjd 57 74
Cdmd 57 25
Hsd 57 74
Spondyloepiphyseal Dysplasia with Congenital Joint Dyslocations, Chst3 Type 59
Humero-Spinal Dysostosis with Congenital Heart Disease 12
Chondrodysplasia with Multiple Dislocations; Cdmd 57
Spondyloepiphyseal Dysplasia Omani Type 74
Spondyloepiphyseal Dysplasia, Congenita 72
Autosomal Recessive Larsen Syndrome 25
Larsen Syndrome, Recessive Type 72
Sed with Luxations, Chst3 Type 25
Humerospinal Dysostosis; Hsd 57
Recessive Larsen Syndrome 24
Mucopolysaccharidosis Iv 72
Humero-Spinal Dysostosis 25
Chst3-Related Dysplasia 24
Chst3 Deficiency 24
Sdcd, Chst3 Type 59
Sed, Omani Type 25
Sed Omani Type 74
Omani Type 12

Characteristics:

Orphanet epidemiological data:

59
chst3-related skeletal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Miscellaneous:
waddling gait

Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0050813
OMIM 57 143095
KEGG 37 H00762
MeSH 44 D010009
ICD10 33 Q77.7
ICD10 via Orphanet 34 Q74.8
UMLS via Orphanet 73 C2931649
Orphanet 59 ORPHA263463
UMLS 72 C0026707 C0038015 C1837657 more

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 schimke immunoosseous dysplasia and spondyloepiphyseal dysplasia congenita, 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. The drugs Losartan and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and skin, and related phenotypes are hypertelorism and genu valgum

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 : 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.

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)

KEGG : 37
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 : 74 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 : 75 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 259)
# Related Disease Score Top Affiliating Genes
1 schimke immunoosseous dysplasia 34.1 SMARCAL1 SMARCA2
2 spondyloepiphyseal dysplasia congenita 33.4 SLC26A2 GALNS FGFR3 COL2A1
3 hypochondrogenesis 33.0 COL2A1 ACAN
4 brachyolmia 32.9 GALNS COL2A1
5 pseudoachondroplasia 32.8 SLC26A2 ACAN
6 kniest dysplasia 31.9 GALNS COL2A1
7 skeletal dysplasias 31.1 FGFR3 COL2A1
8 larsen syndrome 30.9 GALNS CHST3
9 achondrogenesis, type ii 30.8 COL2A1 ACAN
10 achondroplasia 30.8 FGFR3 ACAN
11 achondrogenesis 30.4 SLC26A2 COL2A1
12 spinal stenosis 30.4 COL2A1 ACAN
13 pectus excavatum 30.3 FGFR3 ACAN
14 diastrophic dysplasia 30.3 SLC26A2 COL2A1
15 multiple epiphyseal dysplasia 30.2 SLC26A2 COL2A1 ACAN
16 dwarfism 30.1 RNU4ATAC FGFR3
17 brittle bone disorder 29.9 FGFR3 COL2A1
18 bone disease 29.8 TRAPPC2 FGFR3 COL2A1 ACAN
19 spondyloepimetaphyseal dysplasia, matrilin-3 related 29.8 TRAPPC2 SMARCAL1 GALNS COL2A1 CHST3
20 epiphyseal dysplasia, multiple, 1 29.7 SLC26A2 ACAN
21 clubfoot 29.6 SLC26A2 CHST3
22 scoliosis 29.6 FGFR3 COL2A1 CANT1 ACAN
23 desbuquois dysplasia 29.4 SLC26A2 CHST3 CANT1
24 spondyloepiphyseal dysplasia tarda, x-linked 13.1
25 spondyloepiphyseal dysplasia, maroteaux type 12.9
26 spondyloepiphyseal dysplasia, kimberley type 12.9
27 spondyloepiphyseal dysplasia, stanescu type 12.8
28 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 12.7
29 spondyloepiphyseal dysplasia tarda, autosomal dominant 12.7
30 spondyloepiphyseal dysplasia, kondo-fu type 12.6
31 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 12.6
32 spondyloepiphyseal dysplasia tarda with mental retardation 12.5
33 spondyloepiphyseal dysplasia with atlantoaxial instability 12.5
34 arthropathy, progressive pseudorheumatoid, of childhood 12.5
35 spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia 12.5
36 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness 12.5
37 spondyloepiphyseal dysplasia with punctate corneal dystrophy 12.4
38 spondyloepiphyseal dysplasia tarda with characteristic facies 12.4
39 spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger type 12.4
40 roifman syndrome 12.3
41 spondyloepiphyseal dysplasia tarda, autosomal recessive 12.2
42 czech dysplasia 12.0
43 3-beta-hydroxysteroid dehydrogenase deficiency 11.9
44 spondyloperipheral dysplasia 11.8
45 spondyloepimetaphyseal dysplasia, strudwick type 11.8
46 osteoarthritis with mild chondrodysplasia 11.8
47 brachyolmia type 1, toledo type 11.7
48 spondyloepimetaphyseal dysplasia, genevieve type 11.6
49 mucopolysaccharidosis, type iva 11.6
50 codas syndrome 11.6

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:

59 32 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
3 flexion contracture 59 32 hallmark (90%) Very frequent (99-80%) HP:0001371
4 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
5 disproportionate short-trunk short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003521
6 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
7 cubitus valgus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002967
8 waddling gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002515
9 rhizomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008905
10 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
11 sparse eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0045075
12 barrel-shaped chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0001552
13 enlarged joints 59 32 hallmark (90%) Very frequent (99-80%) HP:0003037
14 small epiphyses 59 32 hallmark (90%) Very frequent (99-80%) HP:0010585
15 irregular epiphyses 59 32 hallmark (90%) Very frequent (99-80%) HP:0010582
16 intervertebral space narrowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002945
17 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
18 highly arched eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0002553
19 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
20 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
21 kyphoscoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002751
22 broad forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000337
23 short metacarpal 59 32 frequent (33%) Frequent (79-30%) HP:0010049
24 abnormality of cardiovascular system morphology 59 32 frequent (33%) Frequent (79-30%) HP:0030680
25 sparse and thin eyebrow 32 frequent (33%) HP:0000535
26 short neck 32 HP:0000470
27 high palate 32 HP:0000218
28 scoliosis 59 Very frequent (99-80%)
29 hearing impairment 32 HP:0000365
30 widely spaced teeth 32 HP:0000687
31 delayed skeletal maturation 32 HP:0002750
32 pes planus 32 HP:0001763
33 microtia 32 HP:0008551
34 pulmonary arterial hypertension 32 HP:0002092
35 microdontia 32 HP:0000691
36 wide intermamillary distance 32 HP:0006610
37 shield chest 32 HP:0000914
38 talipes equinovarus 32 HP:0001762
39 mitral regurgitation 32 HP:0001653
40 bilateral single transverse palmar creases 32 HP:0007598
41 ventricular septal defect 32 HP:0001629
42 elbow dislocation 32 HP:0003042
43 flattened epiphysis 32 HP:0003071
44 pulmonic stenosis 32 HP:0001642
45 abnormality of the elbow 59 Very frequent (99-80%)
46 short distal phalanx of finger 32 HP:0009882
47 camptodactyly of finger 32 HP:0100490
48 hypoplasia of the ulna 32 HP:0003022
49 aortic valve stenosis 32 HP:0001650
50 delayed gross motor development 32 HP:0002194

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

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 renal/urinary system MP:0005367 9.35 COL2A1 FGFR3 GALNS SMARCA2 SMARCAL1
2 skeleton MP:0005390 9.17 CHST3 COL2A1 FGFR3 GALNS SLC26A2 SMARCA2

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
Losartan Approved Phase 2 114798-26-4 3961
2
Angiotensin II Approved, Investigational Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198
3
Morphine Approved, Investigational Phase 2 57-27-2 5288826
4 Angiotensinogen Phase 2
5 Angiotensin Receptor Antagonists Phase 2
6 Angiotensin II Type 1 Receptor Blockers Phase 2
7 Giapreza Phase 2
8 Anti-Arrhythmia Agents Phase 2
9 Antihypertensive Agents Phase 2
10 Pharmaceutical Solutions

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 Open-Label, Phase 3B Study to Evaluate the Efficacy and Safety of BMN 110 in Australian Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Unknown status NCT01966029 Phase 3 BMN 110
3 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
4 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
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 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
7 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
8 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
9 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
10 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
11 Gait Analysis in Patients With MPS IVA Treated With Enzyme Replacement Therapy Unknown status NCT01920828
12 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
13 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
14 Psychological Concomitants of Morquio Syndrome Completed NCT01752296
15 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome Completed NCT01961518
16 Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy Completed NCT02208661
17 A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Recruiting NCT02294877 Vimizim® (elosulfase alfa)
18 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
19 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]
20 Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT01457456
21 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
22 Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them? Recruiting NCT03150069
23 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Morquio Disease Recruiting NCT03872713
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 72 / NDF-RT 51 :


ELOSULFASE ALFA

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, Skin, Brain, Kidney, Eye, Spinal Cord

Publications for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Articles related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

(show top 50) (show all 558)
# Title Authors PMID Year
1
Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3. 38 4 8 71
19320654 2009
2
Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. 38 4 8 71
18698629 2008
3
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. 38 4 8 71
18513679 2008
4
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. 38 4 8 71
15215498 2004
5
Spondyloepiphyseal dysplasia Omani type: a new recessive type of SED with progressive spinal involvement. 38 4 8 71
15098240 2004
6
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. 4 8 71
20830804 2010
7
A newly recognized chondrodysplasia with multiple dislocations. 4 8 71
15368507 2004
8
Humero-spinal dysostosis: report of the fourth case with emphasis on generalized skeletal involvement, abnormal craniofacial features, and mitral valve thickening. 4 8 71
9039660 1997
9
Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability. 8 71
23918704 2013
10
Humero-spinal dysostosis. 8 71
112567 1979
11
Humero-spinal dysostosis with congenital heart disease. 4 8
4814886 1974
12
CHST3-Related Skeletal Dysplasia 38 71
21882400 2011
13
Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families. 38 4
27753269 2017
14
A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred. 38 4
26572954 2016
15
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome. 38 4
24755949 2015
16
Osseous dysplasia with severe short stature, multiple dislocations, and delayed bone age: report on a second Lebanese patient. 8
17618475 2007
17
Long QT Syndrome 71
20301308 2003
18
Humeroradioulnar synostosis appearing as distal humeral bifurcation in a patient with distal phocomelia of the upper limbs and radial ectrodactyly. 8
6465206 1984
19
Apparent bifurcatio of distal humerous with oligoectro-syndactyly. 8
6305194 1983
20
Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases. 4
28229453 2017
21
Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations. 4
28396765 2017
22
Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome). 4
24300290 2014
23
A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita. 9 38
17509551 2007
24
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. 4
16801345 2007
25
A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene. 9 38
16957471 2006
26
R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia. 9 38
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. 9 38
16080123 2005
28
Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia. 9 38
15316971 2004
29
Spondyloepiphyseal dysplasia congenita with absent femoral head. 9 38
15076581 2004
30
A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. 9 38
12968670 2003
31
Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene. 9 38
12205105 2002
32
A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. 9 38
11424925 2001
33
Familial calcium crystal diseases: what have we learned? 9 38
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. 9 38
10745044 2000
35
Familial and clinical aspects of calcium pyrophosphate deposition disease. 9 38
11123024 1999
36
Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders. 9 38
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. 9 38
8893763 1996
38
Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia--are there "hot spots" on COL2A1? 9 38
8877930 1996
39
Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation. 9 38
7705841 1995
40
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. 9 38
7847372 1995
41
Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis. 9 38
7738948 1995
42
Molecular genetics of the human chondrodysplasias-1995. 9 38
8825578 1995
43
The type II collagenopathies: a spectrum of chondrodysplasias. 9 38
8157027 1994
44
Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutation. 9 38
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. 9 38
8019561 1994
46
Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia. 9 38
7700721 1994
47
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1). 9 38
8244341 1993
48
Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia. 9 38
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. 9 38
8423604 1993
50
An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis. 9 38
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 212)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CHST3 NM_004273.5(CHST3): c.904G> C (p.Asp302His) single nucleotide variant Pathogenic rs1316347883 10:73767693-73767693 10:72007935-72007935
2 CHST3 NM_004273.5(CHST3): c.491C> T (p.Pro164Leu) single nucleotide variant Pathogenic rs771866012 10:73767280-73767280 10:72007522-72007522
3 CHST3 NM_004273.5(CHST3): c.1312C> T (p.Gln438Ter) single nucleotide variant Pathogenic rs1416783446 10:73768101-73768101 10:72008343-72008343
4 COL2A1 NM_001844.5(COL2A1): c.1114G> A (p.Gly372Arg) single nucleotide variant Pathogenic rs1555167783 12:48383019-48383019 12:47989236-47989236
5 CHST3 NM_004273.5(CHST3): c.776T> C (p.Leu259Pro) single nucleotide variant Pathogenic rs121908616 10:73767565-73767565 10:72007807-72007807
6 CHST3 NM_004273.5(CHST3): c.1114G> A (p.Glu372Lys) single nucleotide variant Pathogenic rs267606734 10:73767903-73767903 10:72008145-72008145
7 CHST3 NM_004273.5(CHST3): c.664C> T (p.Arg222Trp) single nucleotide variant Pathogenic rs121908617 10:73767453-73767453 10:72007695-72007695
8 CHST3 NM_004273.5(CHST3): c.920T> C (p.Leu307Pro) single nucleotide variant Pathogenic rs121908618 10:73767709-73767709 10:72007951-72007951
9 CHST3 CHST3, 1-BP DEL, 1086G deletion Pathogenic
10 CHST3 NM_004273.5(CHST3): c.603C> A (p.Tyr201Ter) single nucleotide variant Pathogenic rs121908619 10:73767392-73767392 10:72007634-72007634
11 CHST3 NM_004273.5(CHST3): c.857T> C (p.Leu286Pro) single nucleotide variant Pathogenic rs121908620 10:73767646-73767646 10:72007888-72007888
12 CHST3 NM_004273.5(CHST3): c.422C> T (p.Thr141Met) single nucleotide variant Pathogenic rs267606735 10:73767211-73767211 10:72007453-72007453
13 CHST3 NM_004273.5(CHST3): c.481C> T (p.Leu161Phe) single nucleotide variant Pathogenic rs267606733 10:73767270-73767270 10:72007512-72007512
14 CHST3 NM_004273.5(CHST3): c.988C> T (p.Gln330Ter) single nucleotide variant Pathogenic rs267606732 10:73767777-73767777 10:72008019-72008019
15 COL2A1 NM_001844.4(COL2A1): c.3490_3597del deletion Pathogenic rs1555164872 12:48369744-48370134 12:47975961-47976351
16 COL2A1 COL2A1, 45-BP DUP, EX48 duplication Pathogenic
17 COL2A1 NM_001844.5(COL2A1): c.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 12:48372112-48372112 12:47978329-47978329
18 COL2A1 NM_001844.5(COL2A1): c.3517G> C (p.Gly1173Arg) single nucleotide variant Pathogenic rs121912883 12:48369826-48369826 12:47976043-47976043
19 COL2A1 NM_001844.5(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 12:48377504-48377504 12:47983721-47983721
20 COL2A1 NM_001844.5(COL2A1): c.258C> A (p.Cys86Ter) single nucleotide variant Pathogenic rs794727261 12:48393736-48393736 12:47999953-47999953
21 COL2A1 NM_001844.5(COL2A1): c.3301G> A (p.Gly1101Arg) single nucleotide variant Pathogenic rs864621973 12:48370911-48370911 12:47977128-47977128
22 CHST3 NM_004273.5(CHST3): c.1063G> A (p.Gly355Arg) single nucleotide variant Pathogenic rs747171013 10:73767852-73767852 10:72008094-72008094
23 COL2A1 NM_001844.5(COL2A1): c.2024G> A (p.Gly675Asp) single nucleotide variant Pathogenic 12:48377193-48377193 12:47983410-47983410
24 COL2A1 NM_001844.5(COL2A1): c.3589G> A (p.Gly1197Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121912870 12:48369754-48369754 12:47975971-47975971
25 CHST3 NM_004273.5(CHST3): c.533dup (p.Ala179fs) duplication Pathogenic/Likely pathogenic rs769540174 10:73767322-73767322 10:72007564-72007564
26 CHST3 NM_004273.5(CHST3): c.680C> G (p.Ser227Cys) single nucleotide variant Likely pathogenic rs1554817549 10:73767469-73767469 10:72007711-72007711
27 CHST3 NM_004273.5(CHST3): c.417C> T (p.Ala139=) single nucleotide variant Conflicting interpretations of pathogenicity rs144287889 10:73767206-73767206 10:72007448-72007448
28 COL2A1 NM_001844.5(COL2A1): c.4316C> T (p.Thr1439Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121912886 12:48367873-48367873 12:47974090-47974090
29 CHST3 NM_004273.5(CHST3): c.1347C> T (p.Arg449=) single nucleotide variant Conflicting interpretations of pathogenicity rs200249458 10:73768136-73768136 10:72008378-72008378
30 CHST3 NM_004273.5(CHST3): c.561G> C (p.Val187=) single nucleotide variant Conflicting interpretations of pathogenicity rs147804585 10:73767350-73767350 10:72007592-72007592
31 TRAPPC2 NM_001011658.4(TRAPPC2): c.-97G> A single nucleotide variant Conflicting interpretations of pathogenicity rs746032983 X:13752240-13752240 X:13734121-13734121
32 CHST3 NM_004273.5(CHST3): c.911G> A (p.Arg304Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs28937593 10:73767700-73767700 10:72007942-72007942
33 TRAPPC2 NM_001011658.4(TRAPPC2): c.*2060G> A single nucleotide variant Uncertain significance rs1057515788 X:13730466-13730466 X:13712347-13712347
34 TRAPPC2 NM_001011658.4(TRAPPC2): c.*957_*958insTTTTTTT insertion Uncertain significance rs1057515790 X:13731568-13731569 X:13713449-13713450
35 TRAPPC2 NM_001011658.4(TRAPPC2): c.*950_*956dup duplication Uncertain significance rs57103709 X:13731570-13731576 X:13713451-13713457
36 TRAPPC2 NM_001011658.4(TRAPPC2): c.-179G> C single nucleotide variant Uncertain significance rs1057515797 X:13752661-13752661 X:13734542-13734542
37 TRAPPC2 NM_001011658.4(TRAPPC2): c.*263dup duplication Uncertain significance rs1057515794 X:13732263-13732263 X:13714144-13714144
38 TRAPPC2 NM_001011658.4(TRAPPC2): c.*179A> T single nucleotide variant Uncertain significance rs1057515796 X:13732347-13732347 X:13714228-13714228
39 TRAPPC2 NM_001011658.4(TRAPPC2): c.*243G> T single nucleotide variant Uncertain significance rs1057515795 X:13732283-13732283 X:13714164-13714164
40 TRAPPC2 NM_001011658.4(TRAPPC2): c.*703G> A single nucleotide variant Uncertain significance rs554971161 X:13731823-13731823 X:13713704-13713704
41 CHST3 NM_004273.5(CHST3): c.*1404C> G single nucleotide variant Uncertain significance rs886047170 10:73769633-73769633 10:72009875-72009875
42 CHST3 NM_004273.5(CHST3): c.*812G> A single nucleotide variant Uncertain significance rs886047162 10:73769041-73769041 10:72009283-72009283
43 CHST3 NM_004273.5(CHST3): c.*922C> T single nucleotide variant Uncertain significance rs886047164 10:73769151-73769151 10:72009393-72009393
44 CHST3 NM_004273.5(CHST3): c.*1088A> G single nucleotide variant Uncertain significance rs115617050 10:73769317-73769317 10:72009559-72009559
45 CHST3 NM_004273.5(CHST3): c.*1088A> T single nucleotide variant Uncertain significance rs115617050 10:73769317-73769317 10:72009559-72009559
46 CHST3 NM_004273.5(CHST3): c.*1184C> G single nucleotide variant Uncertain significance rs187692473 10:73769413-73769413 10:72009655-72009655
47 CHST3 NM_004273.5(CHST3): c.*1244G> T single nucleotide variant Uncertain significance rs886047168 10:73769473-73769473 10:72009715-72009715
48 CHST3 NM_004273.5(CHST3): c.394C> G (p.Arg132Gly) single nucleotide variant Uncertain significance rs766145797 10:73767183-73767183 10:72007425-72007425
49 CHST3 NM_004273.5(CHST3): c.*290G> C single nucleotide variant Uncertain significance rs184330297 10:73768519-73768519 10:72008761-72008761
50 CHST3 NM_004273.5(CHST3): c.*523A> G single nucleotide variant Uncertain significance rs189173490 10:73768752-73768752 10:72008994-72008994

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

74
# 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:

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 FGFR3 COL2A1 ACAN
2 10.36 COL2A1 CHST3 ACAN

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

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

# Name GO ID Score Top Affiliating Genes
1 DNA-dependent ATPase activity GO:0008094 8.62 SMARCAL1 SMARCA2

Sources for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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