MCID: SPN008
MIFTS: 58

Spondyloepiphyseal Dysplasia Congenita

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

Aliases & Classifications for Spondyloepiphyseal Dysplasia Congenita

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia Congenita:

Name: Spondyloepiphyseal Dysplasia Congenita 57 12 76 53 25 59 15
Sed Congenita 57 53 25 13 55
Sedc 57 53 25 59 75
Spondyloepiphyseal Dysplasia, Congenital Type 57 76 53 25
Spondyloepiphyseal Dysplasia Tarda, X-Linked; Sedt 12
Spondyloepiphyseal Dysplasia Tarda, X-Linked 73
Spondyloepiphyseal Dysplasia Congenital Type 75
Dysplasia, Spondyloepiphyseal, Congenita 40
Congenital Spondyloepiphyseal Dysplasia 59
Spondyloepiphyseal Dysplasia, Congenita 73
Late Spondyloepiphyseal Dysplasia 12
Spranger-Wiedemann Disease 59
Sed, Congenital Type 25

Characteristics:

Orphanet epidemiological data:

59
spondyloepiphyseal dysplasia congenita
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe);

OMIM:

57
Miscellaneous:
waddling gait
gonadal mosaicism reported

Inheritance:
autosomal dominant


HPO:

32
spondyloepiphyseal dysplasia congenita:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Spondyloepiphyseal Dysplasia Congenita

NIH Rare Diseases : 53 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.

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

Genetics Home Reference : 25 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.

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)

UniProtKB/Swiss-Prot : 75 Spondyloepiphyseal dysplasia congenital type: Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems.

Wikipedia : 76 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 68)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia with congenital joint dislocations 34.3 COL2A1 FGFR3 GALNS
2 spondyloepimetaphyseal dysplasia, strudwick type 32.6 COL10A1 COL2A1 SEMA3A
3 diastrophic dysplasia 31.0 COL2A1 COMP SLC26A2
4 multiple epiphyseal dysplasia 31.0 COL2A1 COMP SLC26A2
5 skeletal dysplasias 30.1 COL2A1 COMP FGFR3 FLNA SLC26A2
6 osteoarthritis 30.0 ASPN COL2A1 COMP DDR2 MMP13
7 scoliosis 29.2 COL1A1 COL1A2 COL2A1 FGFR3 RUNX2
8 spondyloepiphyseal dysplasia tarda, x-linked 11.1
9 marshall syndrome 10.8 COL11A1 COL2A1
10 achondrogenesis, type ia 10.7 COL2A1 SLC26A2
11 retinal perforation 10.7 COL11A1 COL2A1
12 cartilage disease 10.7 COL10A1 COL2A1 COMP
13 otospondylomegaepiphyseal dysplasia 10.7 COL11A1 COL2A1
14 vitreous syneresis 10.6 COL11A1 COL2A1
15 metaphyseal chondrodysplasia, jansen type 10.6 COL2A1 FGFR3 IHH
16 ehlers-danlos syndrome, cardiac valvular type 10.5 COL1A2 FLNA
17 ehlers-danlos/osteogenesis imperfecta syndrome 10.5 COL1A1 COL1A2
18 pilomyxoid astrocytoma 10.5 COL1A1 COL2A1
19 high bone mass osteogenesis imperfecta 10.5 COL1A1 COL1A2
20 spondyloepimetaphyseal dysplasia, missouri type 10.5 MMP13 SEMA3A
21 ehlers-danlos syndrome, hypermobility type 10.5 COL1A1 COL3A1
22 osteogenesis imperfecta, type viii 10.4 COL1A1 COL1A2
23 lipoblastoma 10.4 COL1A2 COL3A1
24 coxa vara 10.4 COL10A1 COL2A1 MMP13
25 tympanosclerosis 10.4 COL1A1 COL2A1
26 osteogenesis imperfecta, type vii 10.4 COL1A1 COL1A2
27 bone inflammation disease 10.4 COL2A1 COMP MMP13
28 achondrogenesis, type ii 10.4 COL11A1 COL2A1 COMP SEMA3A
29 atelosteogenesis 10.3 COMP FGFR3 FLNA SLC26A2
30 osteochondrodysplasia 10.3 COL2A1 FGFR3 FLNA SLC26A2
31 macroglossia 10.3 COL11A1 COL2A1
32 osteogenesis imperfecta, type ii 10.2 COL1A1 COL1A2 FGFR3
33 osteogenesis imperfecta, type i 10.2 COL1A1 COL1A2 FGFR3
34 larsen-like syndrome 10.2 COL1A1 COL1A2 COL3A1
35 achondroplasia 10.2
36 pseudoachondroplasia 10.2
37 cervicitis 10.2
38 brachyolmia 10.2 COL2A1 GALNS TRAPPC2B
39 otosclerosis 10.2 COL1A1 COL1A2 SLC26A2
40 strabismus 10.2 COL11A1 COL2A1 FGFR3
41 ehlers-danlos syndrome, classic type, 1 10.2 COL1A1 COL1A2 COL3A1
42 osteogenesis imperfecta, type v 10.2 COL1A1 COL1A2 IHH
43 cleft palate, isolated 10.1
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
45 pulmonary hypertension 10.1
46 atlantoaxial subluxation 10.1
47 patella, chondromalacia of 10.1 COMP LAX1
48 saethre-chotzen syndrome 10.1 COL1A2 FGFR3 RUNX2
49 hypochondrogenesis 10.1 ASPN COL11A1 COL2A1 COMP SEMA3A
50 vitreoretinal dystrophy 10.0 COL11A1 COL2A1

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



Diseases related to Spondyloepiphyseal Dysplasia Congenita

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia Congenita

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
short neck
scoliosis
kyphosis
ovoid vertebral bodies
platyspondyly
more
Head And Neck Mouth:
cleft palate

Head And Neck Face:
flat face
malar hypoplasia

Skeletal Feet:
talipes equinovarus
absent talus and calcaneal ossification in infancy

Neurologic Central Nervous System:
hypotonia
cervical myelopathy

Growth Height:
dwarfism, short-trunk, identifiable at birth
final adult height, 84-128cm

Skeletal Limbs:
flattened epiphyses
diminished joint mobility at elbows, knees, and hips

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Respiratory Lung:
respiratory distress
restrictive lung disease

Head And Neck Eyes:
myopia
retinal detachment
vitreoretinal degeneration

Skeletal Pelvis:
coxa vara
dislocation of hip
absent pubic ossification in infancy

Growth Other:
specific growth curves are available

Chest External Features:
barrel chest


Clinical features from OMIM:

183900

Human phenotypes related to Spondyloepiphyseal Dysplasia Congenita:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
3 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
4 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
5 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
6 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
7 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
8 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
9 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
10 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
11 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
12 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
13 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
14 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
15 platyspondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000926
16 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
17 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
18 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
19 flat face 59 32 frequent (33%) Frequent (79-30%) HP:0012368
20 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
21 broad forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000337
22 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
23 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000541
24 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
25 coxa vara 59 32 frequent (33%) Frequent (79-30%) HP:0002812
26 malar flattening 32 HP:0000272
27 muscular hypotonia 32 HP:0001252
28 pectus carinatum 32 HP:0000768
29 ovoid vertebral bodies 32 HP:0003300
30 respiratory distress 32 HP:0002098
31 hip dislocation 32 HP:0002827
32 limited elbow movement 32 HP:0002996
33 flattened epiphysis 32 HP:0003071
34 hypoplasia of the odontoid process 32 HP:0003311
35 vitreoretinal degeneration 32 HP:0000655
36 generalized hypotonia 32 HP:0001290
37 restrictive ventilatory defect 32 HP:0002091
38 barrel-shaped chest 32 HP:0001552
39 lumbar hyperlordosis 32 HP:0002938
40 waddling gait 32 HP:0002515
41 neonatal short-trunk short stature 32 HP:0008857
42 delayed pubic bone ossification 32 HP:0008788
43 spondyloepiphyseal dysplasia 32 HP:0002655
44 limited hip movement 32 HP:0008800
45 cervical myelopathy 32 HP:0002318
46 delayed calcaneal ossification 32 HP:0008142
47 limitation of knee mobility 32 HP:0010501

UMLS symptoms related to Spondyloepiphyseal Dysplasia Congenita:


waddling gait, respiratory distress, arthralgia

MGI Mouse Phenotypes related to Spondyloepiphyseal Dysplasia Congenita:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.44 COL10A1 COL1A1 COL1A2 COL2A1 COL3A1 COMP
2 growth/size/body region MP:0005378 10.37 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
3 cardiovascular system MP:0005385 10.29 COL2A1 COL3A1 COMP DDR2 FLNA IHH
4 homeostasis/metabolism MP:0005376 10.26 FGFR3 FLNA GALNS MMP13 RUNX2 SDC1
5 immune system MP:0005387 10.23 COMP FGFR3 FLNA LAX1 COL10A1 COL11A1
6 craniofacial MP:0005382 10.22 RUNX2 SLC26A2 COL10A1 COL11A1 COL1A1 COL2A1
7 limbs/digits/tail MP:0005371 10.22 ASPN COL10A1 COL11A1 COL1A1 COL1A2 COL2A1
8 mortality/aging MP:0010768 10.21 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
9 digestive/alimentary MP:0005381 10.11 COL11A1 COL1A1 COL2A1 COL3A1 FGFR3 FLNA
10 integument MP:0010771 10.03 COL1A1 COL1A2 COL3A1 DDR2 FGFR3 MMP13
11 nervous system MP:0003631 9.96 IHH RUNX2 SEMA3A COL10A1 COL11A1 COL1A1
12 muscle MP:0005369 9.87 COL1A1 COL1A2 COL3A1 COMP DDR2 IHH
13 skeleton MP:0005390 9.83 MMP13 RUNX2 SEMA3A SLC26A2 COL10A1 COL11A1
14 respiratory system MP:0005388 9.81 COL11A1 COL1A1 COL2A1 COL3A1 FGFR3 FLNA
15 vision/eye MP:0005391 9.23 COL1A1 COL2A1 DDR2 FGFR3 FLNA GALNS

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Congenita

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
2 Study of Skeletal Disorders and Short Stature Completed NCT00001754

Search NIH Clinical Center for Spondyloepiphyseal Dysplasia Congenita

Genetic Tests for Spondyloepiphyseal Dysplasia Congenita

Anatomical Context for Spondyloepiphyseal Dysplasia Congenita

MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia Congenita:

41
Bone, Lung, Eye

Publications for Spondyloepiphyseal Dysplasia Congenita

Articles related to Spondyloepiphyseal Dysplasia Congenita:

(show top 50) (show all 73)
# Title Authors Year
1
A Rare Form of Corneal Opacity Associated with Spondyloepiphyseal Dysplasia Congenita. ( 29643796 )
2018
2
A novel<i>de novo</i>mutation in<i>COL2A1</i>leading to spondyloepiphyseal dysplasia congenita in a Chinese family. ( 29354277 )
2018
3
Awake fibreoptic intubation for caesarean section in a patient with spondyloepiphyseal dysplasia congenita. ( 29103886 )
2018
4
A novel mutation in the C-propeptide of<i>COL2A1</i>causes atypical spondyloepiphyseal dysplasia congenita. ( 28265456 )
2017
5
Upper Cervical Fusion in Children With Spondyloepiphyseal Dysplasia Congenita. ( 26683502 )
2017
6
Airway stenting in a child with spondyloepiphyseal dysplasia congenita: 13-Year survival. ( 28688555 )
2017
7
Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results. ( 28141691 )
2017
8
Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families. ( 27059630 )
2016
9
Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling. ( 26358419 )
2016
10
Spondyloepiphyseal Dysplasia Congenita in a painting of Vicente LA^pez y PortaA+a (1825). ( 26670922 )
2016
11
Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1. ( 25900302 )
2015
12
Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita. ( 26030151 )
2015
13
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. ( 25604898 )
2015
14
[Identification of a novel mutation of COL2A1 gene in a Chinese family affected with spondyloepiphyseal dysplasia congenita]. ( 25863096 )
2015
15
Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita. ( 25967556 )
2015
16
A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family. ( 24736929 )
2014
17
Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature. ( 22381876 )
2013
18
A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita. ( 23932928 )
2013
19
Structural variations in articular cartilage matrix are associated with early-onset osteoarthritis in the spondyloepiphyseal dysplasia congenita (sedc) mouse. ( 23939426 )
2013
20
A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation. ( 22028304 )
2012
21
Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family. ( 21204228 )
2011
22
Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita. ( 21924244 )
2011
23
Modified lightwand intubation in a child with spondyloepiphyseal dysplasia congenita. ( 21729813 )
2011
24
Spondyloepiphyseal dysplasia congenita. ( 20055564 )
2010
25
Molecular prenatal diagnosis in 2 pregnancies at risk for spondyloepiphyseal dysplasia congenita. ( 17920052 )
2008
26
Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay. ( 19072565 )
2008
27
The diagnosis of art: Achilles Emperaire and spondyloepiphyseal dysplasia congenita. ( 17821829 )
2007
28
A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita. ( 17509551 )
2007
29
Treatment of pulmonary hypertension with sildenafil in a neonate with spondyloepiphyseal dysplasia congenita. ( 16966128 )
2006
30
Thoracolumbar kyphosing scoliosis associated with spondyloepiphyseal dysplasia congenita: a case report. ( 15795968 )
2005
31
Surgical treatment for atlantoaxial subluxation with myelopathy in spondyloepiphyseal dysplasia congenita. ( 15507788 )
2004
32
Spondyloepiphyseal dysplasia congenita with absent femoral head. ( 15076581 )
2004
33
Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia. ( 14558035 )
2003
34
A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. ( 12968670 )
2003
35
Cleft palate repair in spondyloepiphyseal dysplasia congenita: minimizing the risk of cervical cord compression. ( 14577812 )
2003
36
Intra-articular fracture of the knee with spondyloepiphyseal dysplasia congenita: successful result of open reduction and internal fixation. ( 12029516 )
2002
37
Improvement in daily activities using a portable ventilator in a patient with spondyloepiphyseal dysplasia congenita. ( 11380934 )
2001
38
Cleft palate in spondyloepiphyseal dysplasia congenita: case reports. ( 11878179 )
2001
39
A case report of spondyloepiphyseal dysplasia congenita. ( 11301365 )
2001
40
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. ( 11746045 )
2001
41
Spondyloepiphyseal dysplasia congenita associated with conductive hearing loss. ( 10743764 )
2000
42
Spondyloepiphyseal dysplasia congenita: report of one case. ( 10910613 )
1999
43
Massive pyramidal tract signs after endotracheal intubation: a case report of spondyloepiphyseal dysplasia congenita. ( 9822019 )
1998
44
Risk factors of myelopathy at the atlantoaxial level in spondyloepiphyseal dysplasia congenita. ( 9801784 )
1998
45
Spondyloepiphyseal dysplasia congenita with ventilator dependence: two case reports. ( 8931537 )
1996
46
Spondyloepiphyseal dysplasia congenita syndrome: anesthetic implications. ( 8694336 )
1996
47
Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita. ( 7752132 )
1995
48
Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia. ( 7586642 )
1995
49
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. ( 7847372 )
1995
50
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. ( 8423604 )
1993

Variations for Spondyloepiphyseal Dysplasia Congenita

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

75
# 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

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia Congenita:

6
(show top 50) (show all 379)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.3490_3597del108 deletion Pathogenic GRCh38 Chromosome 12, 47975961: 47976351
2 COL2A1 NM_001844.4(COL2A1): c.3490_3597del108 deletion Pathogenic GRCh37 Chromosome 12, 48369744: 48370134
3 COL2A1 COL2A1, 45-BP DUP, EX48 duplication Pathogenic
4 COL2A1 NM_001844.4(COL2A1): c.3589G> A (p.Gly1197Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121912870 GRCh37 Chromosome 12, 48369754: 48369754
5 COL2A1 NM_001844.4(COL2A1): c.3589G> A (p.Gly1197Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121912870 GRCh38 Chromosome 12, 47975971: 47975971
6 COL2A1 NM_001844.4(COL2A1): c.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 GRCh37 Chromosome 12, 48372112: 48372112
7 COL2A1 NM_001844.4(COL2A1): c.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 GRCh38 Chromosome 12, 47978329: 47978329
8 COL2A1 NM_001844.4(COL2A1): c.3517G> C (p.Gly1173Arg) single nucleotide variant Pathogenic rs121912883 GRCh37 Chromosome 12, 48369826: 48369826
9 COL2A1 NM_001844.4(COL2A1): c.3517G> C (p.Gly1173Arg) single nucleotide variant Pathogenic rs121912883 GRCh38 Chromosome 12, 47976043: 47976043
10 COL2A1 NM_001844.4(COL2A1): c.4316C> T (p.Thr1439Met) single nucleotide variant Likely pathogenic rs121912886 GRCh37 Chromosome 12, 48367873: 48367873
11 COL2A1 NM_001844.4(COL2A1): c.4316C> T (p.Thr1439Met) single nucleotide variant Likely pathogenic rs121912886 GRCh38 Chromosome 12, 47974090: 47974090
12 COL2A1 NM_001844.4(COL2A1): c.1358G> C (p.Gly453Ala) single nucleotide variant Pathogenic rs794727339 GRCh37 Chromosome 12, 48380868: 48380868
13 COL2A1 NM_001844.4(COL2A1): c.1358G> C (p.Gly453Ala) single nucleotide variant Pathogenic rs794727339 GRCh38 Chromosome 12, 47987085: 47987085
14 COL2A1 NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser) single nucleotide variant Pathogenic rs121912880 GRCh37 Chromosome 12, 48380136: 48380136
15 COL2A1 NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser) single nucleotide variant Pathogenic rs121912880 GRCh38 Chromosome 12, 47986353: 47986353
16 CHST3 NM_004273.4(CHST3): c.417C> T (p.Ala139=) single nucleotide variant Conflicting interpretations of pathogenicity rs144287889 GRCh37 Chromosome 10, 73767206: 73767206
17 CHST3 NM_004273.4(CHST3): c.417C> T (p.Ala139=) single nucleotide variant Conflicting interpretations of pathogenicity rs144287889 GRCh38 Chromosome 10, 72007448: 72007448
18 COL2A1 NM_001844.4(COL2A1): c.3275G> A (p.Gly1092Asp) single nucleotide variant Likely pathogenic rs794727684 GRCh37 Chromosome 12, 48370937: 48370937
19 COL2A1 NM_001844.4(COL2A1): c.3275G> A (p.Gly1092Asp) single nucleotide variant Likely pathogenic rs794727684 GRCh38 Chromosome 12, 47977154: 47977154
20 COL2A1 NM_001844.4(COL2A1): c.3301G> A (p.Gly1101Arg) single nucleotide variant Pathogenic rs864621973 GRCh37 Chromosome 12, 48370911: 48370911
21 COL2A1 NM_001844.4(COL2A1): c.3301G> A (p.Gly1101Arg) single nucleotide variant Pathogenic rs864621973 GRCh38 Chromosome 12, 47977128: 47977128
22 TRAPPC2 NM_001128835.2(TRAPPC2): c.12G> A (p.Trp4Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs746032983 GRCh37 Chromosome X, 13752240: 13752240
23 TRAPPC2 NM_001128835.2(TRAPPC2): c.12G> A (p.Trp4Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs746032983 GRCh38 Chromosome X, 13734121: 13734121
24 CHST3 NM_004273.4(CHST3): c.1347C> T (p.Arg449=) single nucleotide variant Conflicting interpretations of pathogenicity rs200249458 GRCh37 Chromosome 10, 73768136: 73768136
25 CHST3 NM_004273.4(CHST3): c.1347C> T (p.Arg449=) single nucleotide variant Conflicting interpretations of pathogenicity rs200249458 GRCh38 Chromosome 10, 72008378: 72008378
26 COL2A1 NM_001844.4(COL2A1): c.1717G> C (p.Gly573Arg) single nucleotide variant Likely pathogenic rs886042741 GRCh37 Chromosome 12, 48379334: 48379334
27 COL2A1 NM_001844.4(COL2A1): c.1717G> C (p.Gly573Arg) single nucleotide variant Likely pathogenic rs886042741 GRCh38 Chromosome 12, 47985551: 47985551
28 CHST3 NM_004273.4(CHST3): c.*7C> T single nucleotide variant Benign/Likely benign rs202242499 GRCh37 Chromosome 10, 73768236: 73768236
29 CHST3 NM_004273.4(CHST3): c.*7C> T single nucleotide variant Benign/Likely benign rs202242499 GRCh38 Chromosome 10, 72008478: 72008478
30 CHST3 NM_004273.4(CHST3): c.561G> C (p.Val187=) single nucleotide variant Conflicting interpretations of pathogenicity rs147804585 GRCh37 Chromosome 10, 73767350: 73767350
31 CHST3 NM_004273.4(CHST3): c.561G> C (p.Val187=) single nucleotide variant Conflicting interpretations of pathogenicity rs147804585 GRCh38 Chromosome 10, 72007592: 72007592
32 CHST3 NM_004273.4(CHST3): c.1070G> A (p.Arg357Gln) single nucleotide variant Benign rs3740129 GRCh37 Chromosome 10, 73767859: 73767859
33 CHST3 NM_004273.4(CHST3): c.1070G> A (p.Arg357Gln) single nucleotide variant Benign rs3740129 GRCh38 Chromosome 10, 72008101: 72008101
34 COL2A1 NM_001844.4(COL2A1): c.1340G> A (p.Gly447Asp) single nucleotide variant Likely pathogenic rs886043561 GRCh37 Chromosome 12, 48380886: 48380886
35 COL2A1 NM_001844.4(COL2A1): c.1340G> A (p.Gly447Asp) single nucleotide variant Likely pathogenic rs886043561 GRCh38 Chromosome 12, 47987103: 47987103
36 COL2A1 NM_001844.4(COL2A1): c.1636G> A (p.Gly546Ser) single nucleotide variant Pathogenic/Likely pathogenic rs886044555 GRCh37 Chromosome 12, 48379555: 48379555
37 COL2A1 NM_001844.4(COL2A1): c.1636G> A (p.Gly546Ser) single nucleotide variant Pathogenic/Likely pathogenic rs886044555 GRCh38 Chromosome 12, 47985772: 47985772
38 CHST3 NM_004273.4(CHST3): c.-270delC deletion Likely benign rs886047157 GRCh37 Chromosome 10, 73724290: 73724290
39 CHST3 NM_004273.4(CHST3): c.-270delC deletion Likely benign rs886047157 GRCh38 Chromosome 10, 71964532: 71964532
40 CHST3 NM_004273.4(CHST3): c.394C> G (p.Arg132Gly) single nucleotide variant Uncertain significance rs766145797 GRCh37 Chromosome 10, 73767183: 73767183
41 CHST3 NM_004273.4(CHST3): c.394C> G (p.Arg132Gly) single nucleotide variant Uncertain significance rs766145797 GRCh38 Chromosome 10, 72007425: 72007425
42 CHST3 NM_004273.4(CHST3): c.*290G> C single nucleotide variant Uncertain significance rs184330297 GRCh38 Chromosome 10, 72008761: 72008761
43 CHST3 NM_004273.4(CHST3): c.*290G> C single nucleotide variant Uncertain significance rs184330297 GRCh37 Chromosome 10, 73768519: 73768519
44 CHST3 NM_004273.4(CHST3): c.*523A> G single nucleotide variant Uncertain significance rs189173490 GRCh38 Chromosome 10, 72008994: 72008994
45 CHST3 NM_004273.4(CHST3): c.*523A> G single nucleotide variant Uncertain significance rs189173490 GRCh37 Chromosome 10, 73768752: 73768752
46 CHST3 NM_004273.4(CHST3): c.*763C> A single nucleotide variant Benign rs4148941 GRCh38 Chromosome 10, 72009234: 72009234
47 CHST3 NM_004273.4(CHST3): c.*763C> A single nucleotide variant Benign rs4148941 GRCh37 Chromosome 10, 73768992: 73768992
48 CHST3 NM_004273.4(CHST3): c.*812G> A single nucleotide variant Uncertain significance rs886047162 GRCh38 Chromosome 10, 72009283: 72009283
49 CHST3 NM_004273.4(CHST3): c.*812G> A single nucleotide variant Uncertain significance rs886047162 GRCh37 Chromosome 10, 73769041: 73769041
50 CHST3 NM_004273.4(CHST3): c.*922C> T single nucleotide variant Uncertain significance rs886047164 GRCh37 Chromosome 10, 73769151: 73769151

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
2
Show member pathways
13.26 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
3
Show member pathways
12.86 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
4
Show member pathways
12.77 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1 COMP
5
Show member pathways
12.7 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
6
Show member pathways
12.02 ASPN COL10A1 COL11A1 COL1A1 COL1A2 COL2A1
7
Show member pathways
11.98 COL1A1 COL1A2 COL2A1 COMP SDC1
8 11.89 COL1A1 DDR2 MMP13 SDC1
9 11.85 COL1A1 COL1A2 COL3A1
10 11.78 COL10A1 COL1A1 COL3A1
11
Show member pathways
11.76 COL1A1 COL1A2 COL3A1
12 11.73 COL1A1 COL1A2 COL3A1
13 11.71 COL1A1 COL1A2 COL3A1
14 11.44 COL1A1 COL1A2 COL2A1 COL3A1 MMP13
15 11.42 COL1A1 COL1A2 COL3A1
16 11.31 COL10A1 COL2A1 DDR2 FGFR3 IHH MMP13
17 11.18 COL2A1 COMP DDR2 SDC1
18 11.17 COL1A1 COL1A2 COL3A1
19 11.14 COL1A1 COL1A2 IHH MMP13 RUNX2

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 9.83 ASPN COL10A1 COL11A1 COL1A1 COL1A2 COL2A1
2 extracellular matrix GO:0031012 9.76 ASPN COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
3 endoplasmic reticulum lumen GO:0005788 9.73 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
4 collagen type I trimer GO:0005584 9.32 COL1A1 COL1A2
5 collagen trimer GO:0005581 9.17 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
6 extracellular space GO:0005615 10.02 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1 COMP

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.92 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
2 regulation of immune response GO:0050776 9.9 COL1A1 COL1A2 COL2A1 COL3A1
3 osteoblast differentiation GO:0001649 9.81 COL1A1 IHH RUNX2
4 wound healing GO:0042060 9.8 COL1A1 COL3A1 SDC1
5 platelet activation GO:0030168 9.8 COL1A1 COL1A2 COL3A1 FLNA
6 cartilage development GO:0051216 9.78 COL11A1 COL2A1 IHH MMP13
7 endochondral ossification GO:0001958 9.77 COL1A1 COL2A1 FGFR3 MMP13 RUNX2
8 response to mechanical stimulus GO:0009612 9.76 COL1A1 COL3A1 IHH
9 blood vessel development GO:0001568 9.73 COL1A1 COL1A2 COL3A1
10 collagen fibril organization GO:0030199 9.73 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1 DDR2
11 cellular response to amino acid stimulus GO:0071230 9.71 COL1A1 COL1A2 COL3A1
12 skeletal system morphogenesis GO:0048705 9.71 COL11A1 COL1A1 COL2A1 RUNX2
13 chondrocyte differentiation GO:0002062 9.7 COL2A1 FGFR3 RUNX2
14 ossification GO:0001503 9.7 COL11A1 COL1A1 COL2A1 DDR2 IHH RUNX2
15 bone mineralization GO:0030282 9.69 ASPN FGFR3 MMP13
16 cartilage condensation GO:0001502 9.64 COL11A1 COL2A1
17 chondrocyte development GO:0002063 9.63 COL11A1 RUNX2
18 chondrocyte proliferation GO:0035988 9.63 DDR2 FGFR3 IHH
19 protein heterotrimerization GO:0070208 9.62 COL1A1 COL1A2
20 positive regulation of neuron migration GO:2001224 9.61 FLNA SEMA3A
21 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.61 COL1A1 DDR2
22 proteoglycan metabolic process GO:0006029 9.61 COL11A1 COL2A1 IHH
23 skin morphogenesis GO:0043589 9.59 COL1A1 COL1A2
24 growth plate cartilage development GO:0003417 9.58 COMP MMP13
25 endochondral bone growth GO:0003416 9.57 DDR2 FGFR3
26 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.55 COL1A1 COL2A1
27 collagen catabolic process GO:0030574 9.5 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
28 skeletal system development GO:0001501 9.28 COL10A1 COL1A1 COL1A2 COL2A1 COL3A1 COMP
29 negative regulation of apoptotic process GO:0043066 10.03 COMP DDR2 FGFR3 FLNA IHH

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

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.56 COL1A1 COL1A2 COL3A1 COMP
2 SMAD binding GO:0046332 9.5 COL1A2 COL3A1 FLNA
3 collagen binding GO:0005518 9.46 ASPN COMP DDR2 MMP13
4 platelet-derived growth factor binding GO:0048407 9.26 COL1A1 COL1A2 COL2A1 COL3A1
5 extracellular matrix structural constituent GO:0005201 9.1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1 COMP

Sources for Spondyloepiphyseal Dysplasia Congenita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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