SEDC
MCID: SPN008
MIFTS: 54

Spondyloepiphyseal Dysplasia Congenita (SEDC)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia Congenita

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia Congenita:

Name: Spondyloepiphyseal Dysplasia Congenita 57 12 73 20 43 58 36 29 6 15
Sed Congenita 57 20 43 13 54
Sedc 57 20 43 58 72
Spondyloepiphyseal Dysplasia, Congenital Type 57 73 20 43
Spondyloepiphyseal Dysplasia Tarda, X-Linked 70
Spondyloepiphyseal Dysplasia Congenital Type 72
Dysplasia, Spondyloepiphyseal, Congenita 39
Congenital Spondyloepiphyseal Dysplasia 58
Spondyloepiphyseal Dysplasia, Congenita 70
Late Spondyloepiphyseal Dysplasia 12
Spranger-Wiedemann Disease 58
Sed, Congenital Type 43

Characteristics:

Orphanet epidemiological data:

58
spondyloepiphyseal dysplasia congenita
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe);

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
waddling gait
gonadal mosaicism reported

Inheritance:
autosomal dominant


HPO:

31
spondyloepiphyseal dysplasia congenita:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Spondyloepiphyseal Dysplasia Congenita

MedlinePlus Genetics : 43 Spondyloepiphyseal dysplasia congenita is an inherited bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. This condition affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. Congenita indicates that the condition is present from birth.People with spondyloepiphyseal dysplasia congenita have short stature from birth, with a very short trunk and neck and shortened limbs. Their hands and feet, however, are usually average-sized. Adult height ranges from 3 feet to just over 4 feet. Abnormal curvature of the spine (kyphoscoliosis and lordosis) becomes more severe during childhood. Instability of the spinal bones (vertebrae) in the neck may increase the risk of spinal cord damage. Other skeletal features include flattened vertebrae (platyspondyly); an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); a foot deformity called a clubfoot; and a broad, barrel-shaped chest. Abnormal development of the chest can cause problems with breathing. Arthritis and decreased joint mobility often develop early in life.People with spondyloepiphyseal dysplasia congenita have mild changes in their facial features. The cheekbones close to the nose may appear flattened. Some infants are born with an opening in the roof of the mouth (a cleft palate). Severe nearsightedness (high myopia) is common, as are other eye problems that can impair vision. About one quarter of people with this condition have hearing loss.

MalaCards based summary : Spondyloepiphyseal Dysplasia Congenita, also known as sed congenita, is related to spondyloepimetaphyseal dysplasia, strudwick type and spondyloepiphyseal dysplasia with congenital joint dislocations, and has symptoms including waddling gait, arthralgia and respiratory distress. An important gene associated with Spondyloepiphyseal Dysplasia Congenita is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include spinal cord, eye and bone, and related phenotypes are scoliosis and disproportionate short-trunk short stature

GARD : 20 Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that affects the bones of the spine and ends of the long bones in the arms and legs. Features of this condition include short stature ( dwarfism ); a very short trunk and neck; abnormal curvature of the spine; barrel-shaped chest; shortened limbs; an abnormality of the hip joint; and problems with vision and hearing. Arthritis and decreased joint mobility often develop early in life. More than 175 cases have been reported in the scientific literature. This condition is caused by mutations in the COL2A1 gene and is inherited in an autosomal dominant pattern. Most cases result from new mutations in the gene and occur in people with no family history of the condition.

OMIM® : 57 Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990). (183900) (Updated 05-Apr-2021)

KEGG : 36 Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Individuals with SED, Stanescu type (SEDS) are not short, although spondylar and epiphyseal abnormalities are radiologically quite conspicuous. Mutations in COL2A1 that encodes the alpha-1 chain of type II collagen, cause these diseases.

UniProtKB/Swiss-Prot : 72 Spondyloepiphyseal dysplasia congenital type: Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems.

Wikipedia : 73 Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of... more...

Related Diseases for Spondyloepiphyseal Dysplasia Congenita

Diseases related to Spondyloepiphyseal Dysplasia Congenita via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia, strudwick type 32.0 COL2A1 COL10A1
2 spondyloepiphyseal dysplasia with congenital joint dislocations 31.1 TRAPPC2 COMP COL9A3 COL9A2 COL9A1 COL2A1
3 hypochondrogenesis 31.1 MATN3 COL9A2 COL9A1 COL2A1
4 coxa vara 30.9 COL2A1 COL10A1
5 vitreoretinal degeneration 30.4 COL9A2 COL2A1
6 myopia 30.3 COL9A2 COL9A1 COL2A1 COL11A2
7 metatropic dysplasia 30.2 COL2A1 COL11A2
8 retinal detachment 30.1 COL9A3 COL9A2 COL9A1 COL2A1
9 cleft palate, isolated 30.1 COL9A2 COL9A1 COL2A1 COL11A2
10 legg-calve-perthes disease 29.8 MATN3 COL2A1
11 skeletal dysplasias 29.8 TRAPPC2 MATN3 COMP COL2A1 COL11A2
12 kniest dysplasia 29.6 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
13 vitreous syneresis 29.3 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
14 osteoarthritis 29.1 MATN3 COMP COL9A1 COL2A1 COL11A2 COL10A1
15 pseudoachondroplasia 29.0 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
16 achondrogenesis, type ii 29.0 MATN3 COMP COL9A1 COL2A1 COL11A2 COL10A1
17 diastrophic dysplasia 28.9 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
18 achondrogenesis 28.4 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
19 stickler syndrome 28.3 MATN3 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
20 multiple epiphyseal dysplasia 28.3 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
21 odontochondrodysplasia 27.2 TRAPPC2 MATN3 DYM COMP COL9A3 COL9A2
22 dwarfism 10.6
23 scoliosis 10.5
24 achondroplasia 10.4
25 odontoid hypoplasia 10.4
26 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
27 kohler's disease 10.2 COL2A1 COL11A2
28 hypochondroplasia 10.2
29 spondyloperipheral dysplasia 10.2
30 retinoschisis 1, x-linked, juvenile 10.2
31 pulmonary hypertension 10.2
32 type ii collagen disorders 10.2
33 patella, chondromalacia of 10.2 COMP COL2A1
34 macroglossia 10.2 COL9A1 COL2A1
35 retinal perforation 10.2 COL2A1 COL11A2
36 progressive pseudorheumatoid dysplasia 10.2 COL2A1 COL10A1
37 scheuermann disease 10.1 COL9A3 COL2A1
38 metachondromatosis 10.1 COL2A1 COL10A1
39 retinal lattice degeneration 10.1 COL9A3 COL2A1
40 hypertelorism 10.1
41 pectus excavatum 10.1
42 strabismus 10.1
43 bronchomalacia 10.1
44 spondyloepiphyseal dysplasia tarda, x-linked 10.1
45 respiratory failure 10.1
46 paraplegia 10.1
47 cataract 10.1
48 retinal degeneration 10.1
49 mechanical strabismus 10.1
50 refractive error 10.1

Graphical network of the top 20 diseases related to Spondyloepiphyseal Dysplasia Congenita:



Diseases related to Spondyloepiphyseal Dysplasia Congenita

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia Congenita

Human phenotypes related to Spondyloepiphyseal Dysplasia Congenita:

58 31 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 disproportionate short-trunk short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003521
3 lumbar hyperlordosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002938
4 dysplasia of the femoral head 58 31 hallmark (90%) Very frequent (99-80%) HP:0010575
5 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
6 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
7 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
8 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
9 flat face 58 31 frequent (33%) Frequent (79-30%) HP:0012368
10 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
11 platyspondyly 58 31 frequent (33%) Frequent (79-30%) HP:0000926
12 abnormally ossified vertebrae 58 31 frequent (33%) Frequent (79-30%) HP:0100569
13 hip pain 58 31 frequent (33%) Frequent (79-30%) HP:0030838
14 flat acetabular roof 58 31 frequent (33%) Frequent (79-30%) HP:0003180
15 upper limb undergrowth 58 31 frequent (33%) Frequent (79-30%) HP:0009824
16 increased head circumference 58 31 frequent (33%) Frequent (79-30%) HP:0040194
17 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
18 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
19 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
20 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
21 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
22 waddling gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002515
23 spinal rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003306
24 back pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0003418
25 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
26 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
27 limited elbow movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0002996
28 glossoptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000162
29 short femur 58 31 occasional (7.5%) Occasional (29-5%) HP:0003097
30 spinal cord compression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002176
31 short femoral neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0100864
32 laryngotracheomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008755
33 barrel-shaped chest 58 31 occasional (7.5%) Occasional (29-5%) HP:0001552
34 small epiphyses 58 31 occasional (7.5%) Occasional (29-5%) HP:0010585
35 knee pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0030839
36 cervical instability 58 31 occasional (7.5%) Occasional (29-5%) HP:0008462
37 abnormal respiratory system physiology 31 occasional (7.5%) HP:0002795
38 abnormal foot morphology 31 occasional (7.5%) HP:0001760
39 pectus carinatum 31 HP:0000768
40 ovoid vertebral bodies 31 HP:0003300
41 reduced bone mineral density 58 Occasional (29-5%)
42 growth delay 58 Very frequent (99-80%)
43 talipes equinovarus 31 HP:0001762
44 hip dislocation 31 HP:0002827
45 malar flattening 31 HP:0000272
46 abnormality of the foot 58 Occasional (29-5%)
47 coxa vara 31 HP:0002812
48 hypoplasia of the odontoid process 31 HP:0003311
49 respiratory distress 31 HP:0002098
50 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphosis
short neck
ovoid vertebral bodies
platyspondyly with irregular endplates
more
Head And Neck Mouth:
cleft palate
pierre robin sequence

Head And Neck Eyes:
myopia
retinal detachment
vitreoretinal degeneration

Skeletal Limbs:
coxa valga
joint pain
delayed epiphyseal ossification (childhood)
diminished joint mobility at elbows, knees, and hips

Neurologic Central Nervous System:
hypotonia
cervical myelopathy

Respiratory Lung:
restrictive lung disease
respiratory distress (newborn)

Growth Height:
dwarfism, short-trunk, identifiable at birth

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum

Head And Neck Face:
flat face
malar hypoplasia

Skeletal Feet:
talipes equinovarus
absent talus and calcaneal ossification (infancy)

Skeletal Pelvis:
coxa vara
dislocation of hip, congenital
absent pubic ossification (infancy)

Head And Neck Ears:
hearing loss

Growth Other:
specific growth curves are available

Chest External Features:
barrel chest

Clinical features from OMIM®:

183900 (Updated 05-Apr-2021)

UMLS symptoms related to Spondyloepiphyseal Dysplasia Congenita:


waddling gait; arthralgia; respiratory distress

MGI Mouse Phenotypes related to Spondyloepiphyseal Dysplasia Congenita:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.55 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
2 limbs/digits/tail MP:0005371 9.5 COL10A1 COL2A1 COL9A1 COL9A2 COMP DYM
3 skeleton MP:0005390 9.32 CHST3 COL10A1 COL11A2 COL2A1 COL9A1 COL9A2

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Congenita

Search Clinical Trials , NIH Clinical Center for Spondyloepiphyseal Dysplasia Congenita

Genetic Tests for Spondyloepiphyseal Dysplasia Congenita

Genetic tests related to Spondyloepiphyseal Dysplasia Congenita:

# Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia Congenita 29

Anatomical Context for Spondyloepiphyseal Dysplasia Congenita

MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia Congenita:

40
Spinal Cord, Eye, Bone, Lung

Publications for Spondyloepiphyseal Dysplasia Congenita

Articles related to Spondyloepiphyseal Dysplasia Congenita:

(show top 50) (show all 180)
# Title Authors PMID Year
1
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. 57 6 61
11746045 2001
2
Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita. 61 57 6
7752132 1995
3
Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia. 61 6 57
8325895 1993
4
Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. 6 57
2339128 1990
5
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. 6 57
2543071 1989
6
A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. 57 54 61
12968670 2003
7
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. 61 57
25604898 2015
8
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual. 61 6
10678662 2000
9
Involvement of the humerus in two generations with spondyloepiphyseal dysplasia. 61 57
10627732 1999
10
Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia. 61 57
7586642 1995
11
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. 61 6
8423604 1993
12
Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita. 61 57
1453438 1992
13
Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI). 61 57
1971141 1990
14
Spondyloepiphyseal dysplasia congenita. Light and electron microscopic studies of the eye. 57 61
3977716 1985
15
Genetic heterogeneity in spondyloepiphyseal dysplasia congenita. 57 61
6431817 1984
16
Vitreoretinal degeneration in spondyloepiphyseal dysplasia congenita. 61 57
6807266 1982
17
Spondyloepiphyseal dysplasia congenita. A comparative study of chondrocytic inclusions. 57 61
6244801 1980
18
Spondyloepiphyseal dysplasia congenita. 57 61
5412797 1970
19
[Kniest dysplasia due to mutation of COL2A1 gene]. 6
26037341 2015
20
Ophthalmic and molecular genetic findings in Kniest dysplasia. 6
25592122 2015
21
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 6
26380986 2015
22
Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. 6
9101290 1997
23
Recurrent transition at a CG dinucleotide in exon 12 of COL2A1 produces kniest dysplasia with abnormal RNA splicing by chondrocytes and lymphoblasts and interruption of the triple helix of type II collagen. 6
8702139 1996
24
Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia. 6
7977371 1994
25
Type II collagen antibodies in patients with sensorineural hearing loss. 57
1346913 1992
26
Correlation between antibodies to type II collagen and treatment outcome in bilateral progressive sensorineural hearing loss. 57
1671423 1991
27
Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias. 57
2741952 1989
28
Abnormal type II collagen in the spondyloepiphyseal dysplasias. 57
3222214 1988
29
Type II collagen-induced autoimmune sensorineural hearing loss and vestibular dysfunction in rats. 57
6602578 1983
30
Two clinical variants of spondylo-epiphysial dysplasia congenita. 57
6807992 1982
31
Spondyloepiphyseal dysplasia. 57
4213775 1974
32
Dysplasia spondyloepiphysaria congenita and related generalized skeletal dysplasias among children with severe visual handicaps. 57
5803642 1969
33
A childhood syndrome of bone dysplasia, retinal detachment and deafness. 57
6036008 1967
34
[Congenital spondylo-epiphysial dysplasia with multiple abnormalities]. 57
6031460 1967
35
A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family. 61
33590889 2021
36
Radiologic Features of Type II and Type XI Collagenopathies. 61
33186059 2021
37
A Selenophene-Incorporated Metal-Organic Framework for Enhanced CO2 Uptake and Adsorption Selectivity. 61
32987864 2020
38
Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal dysplasia congenita mutation iPSC line, MCRIi001-B, using CRISPR/Cas9 gene editing. 61
32446218 2020
39
Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita. 61
31972903 2020
40
A case report of temple squamoid eccrine ductal carcinoma: A diagnostic challenge beneath the tip of the iceberg. 61
31895497 2020
41
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies. 61
31755234 2020
42
Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia. 61
32071555 2020
43
Developmental Retrocerebellar Cysts: A New Classification for Neuroendoscopic Management and Systematic Review. 61
31442641 2019
44
Comprehensive analysis of syndromic hearing loss patients in Japan. 61
31427586 2019
45
[Identification of a novel COL2A1 variant in a pedigree affected with spondyloepiphyseal dysplasia congenita]. 61
31302913 2019
46
Spondyloepiphyseal Dysplasia Congenita: A Rare Cause of Respiratory Distress. 61
31523532 2019
47
Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results. 61
31169747 2019
48
Squamoid eccrine ductal carcinoma of the ear helix. 61
31360499 2019
49
A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita. 61
30932712 2019
50
Potential Role of Febrile Seizures and Other Risk Factors Associated With Sudden Deaths in Children. 61
31026025 2019

Variations for Spondyloepiphyseal Dysplasia Congenita

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia Congenita:

6 (show top 50) (show all 171)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL2A1 NM_001844.4(COL2A1):c.3490_3597del Deletion Pathogenic 17351 GRCh37: 12:48369744-48370134
GRCh38: 12:47975961-47976351
2 COL2A1 COL2A1, 45-BP DUP, EX48 Duplication Pathogenic 17354 GRCh37:
GRCh38:
3 COL2A1 NM_001844.5(COL2A1):c.3517G>C (p.Gly1173Arg) SNV Pathogenic 17381 rs121912883 GRCh37: 12:48369826-48369826
GRCh38: 12:47976043-47976043
4 COL2A1 NM_001844.5(COL2A1):c.3301G>A (p.Gly1101Arg) SNV Pathogenic 208169 rs864621973 GRCh37: 12:48370911-48370911
GRCh38: 12:47977128-47977128
5 COL2A1 NM_001844.5(COL2A1):c.1114G>A (p.Gly372Arg) SNV Pathogenic 547251 rs1555167783 GRCh37: 12:48383019-48383019
GRCh38: 12:47989236-47989236
6 COL2A1 NM_001844.5(COL2A1):c.2024G>A (p.Gly675Asp) SNV Pathogenic 627589 rs1565679062 GRCh37: 12:48377193-48377193
GRCh38: 12:47983410-47983410
7 COL2A1 NM_001844.5(COL2A1):c.3553G>C (p.Gly1185Arg) SNV Pathogenic 978480 GRCh37: 12:48369790-48369790
GRCh38: 12:47976007-47976007
8 COL2A1 NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) SNV Pathogenic 17361 rs121912870 GRCh37: 12:48369754-48369754
GRCh38: 12:47975971-47975971
9 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) SNV Pathogenic 17366 rs121912874 GRCh37: 12:48372112-48372112
GRCh38: 12:47978329-47978329
10 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) SNV Pathogenic 17366 rs121912874 GRCh37: 12:48372112-48372112
GRCh38: 12:47978329-47978329
11 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) SNV Pathogenic 195148 rs794727261 GRCh37: 12:48393736-48393736
GRCh38: 12:47999953-47999953
12 COL2A1 NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) SNV Pathogenic 449001 rs1555168505 GRCh37: 12:48387611-48387611
GRCh38: 12:47993828-47993828
13 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) SNV Pathogenic 17395 rs121912893 GRCh37: 12:48377504-48377504
GRCh38: 12:47983721-47983721
14 COL2A1 NM_001844.5(COL2A1):c.1457G>A (p.Gly486Asp) SNV Likely pathogenic 974866 GRCh37: 12:48380189-48380189
GRCh38: 12:47986406-47986406
15 COL2A1 NM_001844.5(COL2A1):c.2860G>A (p.Gly954Ser) SNV Likely pathogenic 997991 GRCh37: 12:48372415-48372415
GRCh38: 12:47978632-47978632
16 COL2A1 NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg) SNV Likely pathogenic 597508 rs1565664095 GRCh37: 12:48367201-48367201
GRCh38: 12:47973418-47973418
17 CHST3 NM_004273.5(CHST3):c.*544C>T SNV Uncertain significance 300580 rs886047161 GRCh37: 10:73768773-73768773
GRCh38: 10:72009015-72009015
18 CHST3 NM_004273.5(CHST3):c.*406G>A SNV Uncertain significance 300575 rs80210009 GRCh37: 10:73768635-73768635
GRCh38: 10:72008877-72008877
19 COL2A1 NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) SNV Uncertain significance 547841 rs886042009 GRCh37: 12:48374344-48374344
GRCh38: 12:47980561-47980561
20 TRAPPC2 NM_001011658.4(TRAPPC2):c.*957_*958insTTTTTTT Insertion Uncertain significance 367975 rs1057515790 GRCh37: X:13731568-13731569
GRCh38: X:13713449-13713450
21 TRAPPC2 NM_001011658.4(TRAPPC2):c.*266_*267insT Insertion Uncertain significance 367992 rs1057515793 GRCh37: X:13732259-13732260
GRCh38: X:13714140-13714141
22 COL2A1 NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) SNV Uncertain significance 308931 rs142770543 GRCh37: 12:48388220-48388220
GRCh38: 12:47994437-47994437
23 TRAPPC2 NM_001011658.4(TRAPPC2):c.*956dup Duplication Uncertain significance 367976 rs57103709 GRCh37: X:13731569-13731570
GRCh38: X:13713450-13713451
24 TRAPPC2 NM_001011658.4(TRAPPC2):c.*263dup Duplication Uncertain significance 367993 rs1057515794 GRCh37: X:13732262-13732263
GRCh38: X:13714143-13714144
25 TRAPPC2 NM_001011658.4(TRAPPC2):c.*950_*956dup Duplication Uncertain significance 367977 rs57103709 GRCh37: X:13731569-13731570
GRCh38: X:13713450-13713451
26 CHST3 NM_004273.5(CHST3):c.828C>T (p.Arg276=) SNV Uncertain significance 300563 rs140547825 GRCh37: 10:73767617-73767617
GRCh38: 10:72007859-72007859
27 CHST3 NM_004273.5(CHST3):c.*1184C>G SNV Uncertain significance 300600 rs187692473 GRCh37: 10:73769413-73769413
GRCh38: 10:72009655-72009655
28 CHST3 NM_004273.5(CHST3):c.*2592C>T SNV Uncertain significance 300633 rs886047176 GRCh37: 10:73770821-73770821
GRCh38: 10:72011063-72011063
29 CHST3 NM_004273.5(CHST3):c.561G>C (p.Val187=) SNV Uncertain significance 286649 rs147804585 GRCh37: 10:73767350-73767350
GRCh38: 10:72007592-72007592
30 CHST3 NM_004273.5(CHST3):c.*3131G>A SNV Uncertain significance 300643 rs577353046 GRCh37: 10:73771360-73771360
GRCh38: 10:72011602-72011602
31 CHST3 NM_004273.5(CHST3):c.*1090G>A SNV Uncertain significance 300596 rs148125052 GRCh37: 10:73769319-73769319
GRCh38: 10:72009561-72009561
32 CHST3 NM_004273.5(CHST3):c.*4628A>C SNV Uncertain significance 300678 rs886047182 GRCh37: 10:73772857-73772857
GRCh38: 10:72013099-72013099
33 CHST3 NM_004273.5(CHST3):c.*4341C>A SNV Uncertain significance 300668 rs12267478 GRCh37: 10:73772570-73772570
GRCh38: 10:72012812-72012812
34 CHST3 NM_004273.5(CHST3):c.*3384G>A SNV Uncertain significance 300647 rs886047180 GRCh37: 10:73771613-73771613
GRCh38: 10:72011855-72011855
35 CHST3 NM_004273.5(CHST3):c.*4495G>A SNV Uncertain significance 300673 rs730721 GRCh37: 10:73772724-73772724
GRCh38: 10:72012966-72012966
36 CHST3 NM_004273.5(CHST3):c.*3571T>C SNV Uncertain significance 300652 rs575592721 GRCh37: 10:73771800-73771800
GRCh38: 10:72012042-72012042
37 CHST3 NM_004273.5(CHST3):c.*1584T>G SNV Uncertain significance 300615 rs886047171 GRCh37: 10:73769813-73769813
GRCh38: 10:72010055-72010055
38 CHST3 NM_004273.5(CHST3):c.*2660C>T SNV Uncertain significance 300635 rs143743853 GRCh37: 10:73770889-73770889
GRCh38: 10:72011131-72011131
39 CHST3 NM_004273.5(CHST3):c.*410C>T SNV Uncertain significance 300576 rs886047160 GRCh37: 10:73768639-73768639
GRCh38: 10:72008881-72008881
40 CHST3 NM_004273.5(CHST3):c.348G>T (p.Glu116Asp) SNV Uncertain significance 300559 rs144885813 GRCh37: 10:73767137-73767137
GRCh38: 10:72007379-72007379
41 CHST3 NM_004273.5(CHST3):c.*3306A>G SNV Uncertain significance 300646 rs12250549 GRCh37: 10:73771535-73771535
GRCh38: 10:72011777-72011777
42 CHST3 NM_004273.5(CHST3):c.*523A>G SNV Uncertain significance 300579 rs189173490 GRCh37: 10:73768752-73768752
GRCh38: 10:72008994-72008994
43 CHST3 NM_004273.5(CHST3):c.1197C>T (p.Asp399=) SNV Uncertain significance 300566 rs184636110 GRCh37: 10:73767986-73767986
GRCh38: 10:72008228-72008228
44 CHST3 NM_004273.5(CHST3):c.*4450G>C SNV Uncertain significance 300672 rs183731077 GRCh37: 10:73772679-73772679
GRCh38: 10:72012921-72012921
45 CHST3 NM_004273.5(CHST3):c.*1621C>G SNV Uncertain significance 300616 rs768478124 GRCh37: 10:73769850-73769850
GRCh38: 10:72010092-72010092
46 CHST3 NM_004273.5(CHST3):c.-51G>A SNV Uncertain significance 300554 rs202050418 GRCh37: 10:73765550-73765550
GRCh38: 10:72005792-72005792
47 CHST3 NM_004273.5(CHST3):c.*3445G>A SNV Uncertain significance 300648 rs185581202 GRCh37: 10:73771674-73771674
GRCh38: 10:72011916-72011916
48 CHST3 NM_004273.5(CHST3):c.*4884C>G SNV Uncertain significance 300685 rs886047185 GRCh37: 10:73773113-73773113
GRCh38: 10:72013355-72013355
49 CHST3 NM_004273.5(CHST3):c.*887A>G SNV Uncertain significance 300587 rs555113303 GRCh37: 10:73769116-73769116
GRCh38: 10:72009358-72009358
50 CHST3 NM_004273.5(CHST3):c.*1244G>T SNV Uncertain significance 300602 rs886047168 GRCh37: 10:73769473-73769473
GRCh38: 10:72009715-72009715

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepiphyseal Dysplasia Congenita:

72
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Gly375Arg VAR_001743
2 COL2A1 p.Gly447Ser VAR_001744
3 COL2A1 p.Gly774Ser VAR_001749 rs121912867
4 COL2A1 p.Gly891Arg VAR_001752 rs121912879
5 COL2A1 p.Arg989Cys VAR_001755 rs121912874
6 COL2A1 p.Gly1176Ser VAR_001763
7 COL2A1 p.Gly1197Ser VAR_001765 rs121912870
8 COL2A1 p.Thr1439Met VAR_017105 rs121912886
9 COL2A1 p.Gly1173Arg VAR_017651 rs121912883
10 COL2A1 p.Gly855Ser VAR_023930 rs119350752

Expression for Spondyloepiphyseal Dysplasia Congenita

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia Congenita.

Pathways for Spondyloepiphyseal Dysplasia Congenita

Pathways related to Spondyloepiphyseal Dysplasia Congenita according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL10A1
2
Show member pathways
12.78 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL10A1
3
Show member pathways
12.71 COMP COL9A3 COL9A2 COL9A1 COL2A1
4
Show member pathways
12.61 COMP COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
5
Show member pathways
12.47 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL10A1
6
Show member pathways
11.88 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
7
Show member pathways
11.75 COMP COL9A3 COL9A2 COL9A1 COL2A1
8 11.2 COL9A3 COL9A2 COL9A1
9 11.17 COMP COL2A1 CHST3
10 11.11 MATN3 COMP COL9A3 COL9A2 COL9A1
11 11.03 COL9A3 COL9A1
12 10.7 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL10A1

GO Terms for Spondyloepiphyseal Dysplasia Congenita

Cellular components related to Spondyloepiphyseal Dysplasia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.97 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
2 extracellular space GO:0005615 9.95 COMP COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
3 endoplasmic reticulum lumen GO:0005788 9.8 MATN3 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
4 collagen trimer GO:0005581 9.63 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL10A1
5 basement membrane GO:0005604 9.61 COL9A3 COL9A1 COL2A1
6 collagen-containing extracellular matrix GO:0062023 9.56 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
7 collagen type IX trimer GO:0005594 9.5 COL9A3 COL9A2 COL9A1
8 extracellular matrix GO:0031012 9.23 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1

Biological processes related to Spondyloepiphyseal Dysplasia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.5 TRAPPC2 MATN3 COMP COL9A2 COL2A1 COL11A2
2 cartilage development GO:0051216 9.46 MATN3 COMP COL2A1 COL11A2
3 collagen fibril organization GO:0030199 9.43 COMP COL2A1 COL11A2
4 chondrocyte differentiation GO:0002062 9.4 COL2A1 COL11A2
5 skeletal system morphogenesis GO:0048705 9.37 COL2A1 COL11A2
6 tissue homeostasis GO:0001894 9.32 COL2A1 COL11A2
7 extracellular matrix organization GO:0030198 9.23 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1

Molecular functions related to Spondyloepiphyseal Dysplasia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.43 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL10A1
2 extracellular matrix structural constituent GO:0005201 9.23 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
3 proteoglycan binding GO:0043394 9.16 COMP COL2A1

Sources for Spondyloepiphyseal Dysplasia Congenita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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