SEMDSTWK
MCID: SPN028
MIFTS: 58

Spondyloepimetaphyseal Dysplasia, Strudwick Type (SEMDSTWK)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Strudwick Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Strudwick Type:

Name: Spondyloepimetaphyseal Dysplasia, Strudwick Type 57 11 42 75 73 28 5 14
Spondylometaphyseal Dysplasia 57 11 42 58 75 73 28 53 5 14
Strudwick Syndrome 57 19 42 75 73 71
Dappled Metaphysis Syndrome 57 19 42 73
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type 57 42 73
Semd, Strudwick Type 57 42 73
Smed, Strudwick Type 57 42 73
Smed Strudwick Type 57 19 12
Smd 57 19 73
Smed, Type I 57 42
Smed Type 1 19 73
Semdstwk 57 73
Semdc 57 73
Spondyloepiphyseal Dysplasia Congenita with Dappled Metaphyses 73
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type 58
Dysplasia, Spondyloepimetaphyseal, Strudwick Type 38
Spondyloepimetaphyseal Dysplasia Strudwick Type 19
Dysplasia, Spondylometaphyseal 38
Sed Strudwick 42
Smed Type I 73

Characteristics:


Inheritance:

Spondyloepimetaphyseal Dysplasia, Strudwick Type: Autosomal dominant 57
Spondylometaphyseal Dysplasia: Autosomal dominant,Autosomal recessive,X-linked recessive 58
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type: Autosomal dominant 58

Prevelance:

Spondylometaphyseal Dysplasia: 1-9/100000 (Europe) 58
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type: <1/1000000 (Worldwide) 58

Age Of Onset:

Spondylometaphyseal Dysplasia: Infancy 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Spondyloepimetaphyseal Dysplasia, Strudwick Type

MedlinePlus Genetics: 42 Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision. This condition affects the bones of the spine (spondylo-) and two regions (epiphyses and metaphyses) near the ends of long bones in the arms and legs. The Strudwick type was named after the first reported patient with the disorder.People with this condition have short stature from birth, with a very short trunk and shortened limbs. Their hands and feet, however, are usually average-sized. Affected individuals may have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). This abnormal spinal curvature may be severe and can cause problems with breathing. Instability of the spinal bones (vertebrae) in the neck may increase the risk of spinal cord damage. Other skeletal features include flattened vertebrae (platyspondyly), severe protrusion of the breastbone (pectus carinatum), an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara), and an inward- and upward-turning foot (clubfoot). Arthritis may develop early in life.People with spondyloepimetaphyseal dysplasia, Strudwick type have mild changes in their facial features. Some infants are born with an opening in the roof of the mouth (a cleft palate) and their cheekbones may appear flattened. Eye problems that can impair vision are common, such as severe nearsightedness (high myopia) and tearing of the lining of the eye (retinal detachment).

MalaCards based summary: Spondyloepimetaphyseal Dysplasia, Strudwick Type, also known as spondylometaphyseal dysplasia, is related to spondylometaphyseal dysplasia, corner fracture type and spondyloepimetaphyseal dysplasia. An important gene associated with Spondyloepimetaphyseal Dysplasia, Strudwick Type is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include bone, spinal cord and eye, and related phenotypes are flared metaphysis and aplasia/hypoplasia involving bones of the extremities

Orphanet 58 Spondylometaphyseal dysplasia: Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.

Spondyloepimetaphyseal dysplasia congenita, strudwick type: Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

Disease Ontology 11 Spondyloepimetaphyseal dysplasia, strudwick type: A spondyloepimetaphyseal dysplasia that has material basis in mutations in the COL2A1 gene which results in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

Spondylometaphyseal dysplasia: An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions.

UniProtKB/Swiss-Prot: 73 A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses. A distinctive radiographic feature is irregular sclerotic changes, described as dappled in the metaphyses of the long bones.

GARD: 19 Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

OMIM®: 57 The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and scoliosis, as well as dappled metaphyses (summary by Tiller et al., 1995). (184250) (Updated 08-Dec-2022)

Wikipedia 75 Spondyloepimetaphyseal dysplasia, strudwick type: Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in... more...

Spondylometaphyseal dysplasia: Spondyloepimetaphyseal dysplasia is a genetic condition affecting the... more...

Related Diseases for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Diseases related to Spondyloepimetaphyseal Dysplasia, Strudwick Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 228)
# Related Disease Score Top Affiliating Genes
1 spondylometaphyseal dysplasia, corner fracture type 33.2 FN1 COL2A1
2 spondyloepimetaphyseal dysplasia 31.2 TRPV4 COL2A1 ACAN
3 metaphyseal dysplasia 31.0 PTH1R COL2A1 COL10A1
4 coxa vara 30.9 COL2A1 COL10A1
5 pectus carinatum 30.7 FBN1 COL2A1
6 clubfoot 30.5 TRPV4 SHOX COL2A1
7 metatropic dysplasia 30.4 TRPV4 COL2A1 ACAN
8 avascular necrosis 30.4 TRPV4 COL2A1
9 cartilage disease 30.1 COMP COL2A1 COL10A1 ACAN
10 retinal detachment 30.1 FBN1 COL9A3 COL9A2 COL9A1 COL2A1 COL11A1
11 retinal perforation 30.1 FN1 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
12 achondrogenesis, type ii 30.0 COMP COL9A1 COL2A1 COL11A2 COL11A1 COL10A1
13 bone disease 30.0 PTH1R FGFR3 COMP COL2A1 COL10A1 ACAN
14 spondyloepiphyseal dysplasia with congenital joint dislocations 30.0 FGFR3 COMP COL9A3 COL9A2 COL9A1 COL2A1
15 kniest dysplasia 29.9 COMP COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
16 myopia 29.8 FBN1 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
17 fundus dystrophy 29.8 PCYT1A FN1 COL2A1 COL11A2 COL11A1 CFAP410
18 spondyloepiphyseal dysplasia congenita 29.7 FGFR3 COMP COL9A3 COL9A2 COL9A1 COL2A1
19 systemic scleroderma 29.7 FN1 FBN1 COL1A2
20 hypochondrogenesis 29.7 COMP COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
21 cataract 29.6 FN1 FBN1 COL9A1 COL2A1 COL11A1
22 scoliosis 29.3 TRPV4 SHOX FN1 FGFR3 FBN1 COMP
23 stickler syndrome 29.2 FBN1 COL9A3 COL9A2 COL9A1 COL2A1 COL1A2
24 spinal stenosis 29.2 COL9A3 COL9A2 COL9A1 COL2A1 COL1A2 COL11A2
25 achondrogenesis 29.2 FGFR3 COMP COL9A3 COL9A2 COL9A1 COL2A1
26 connective tissue disease 28.3 TRPV4 SHOX FN1 FGFR3 FBN1 COMP
27 osteochondrodysplasia 28.2 TRPV4 SHOX PTH1R FN1 FGFR3 FBN1
28 spondylometaphyseal dysplasia with cone-rod dystrophy 11.9
29 spondylometaphyseal dysplasia, axial 11.9
30 spondylometaphyseal dysplasia, sedaghatian type 11.9
31 spondylometaphyseal dysplasia, kozlowski type 11.8
32 spondylometaphyseal dysplasia, algerian type 11.8
33 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism 11.7
34 spondylometaphyseal dysplasia, megarbane-dagher-melki type 11.7
35 spondylometaphyseal dysplasia, type a4 11.7
36 spondylometaphyseal dysplasia with corneal dystrophy 11.7
37 spondylometaphyseal dysplasia, x-linked 11.7
38 calvarial doughnut lesions with bone fragility 11.7
39 spondylometaphyseal dysplasia, east african type 11.6
40 odontochondrodysplasia 1 11.6
41 rhizomelic skeletal dysplasia with or without pelger-huet anomaly 11.6
42 spondylometaphyseal dysplasia, pagnamenta type 11.6
43 metaphyseal chondrodysplasia, schmid type 11.5
44 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy 11.5
45 spondyloenchondrodysplasia with immune dysregulation 11.5
46 spondylometaphyseal dysplasia, czarny-ratajczak type 11.4
47 sbds-related severe neonatal spondylometaphyseal dysplasia 11.2
48 stereotypic movement disorder 11.1
49 opsismodysplasia 11.1
50 type ii collagen disorders 10.5

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:



Diseases related to Spondyloepimetaphyseal Dysplasia, Strudwick Type

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

58 30 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 flared metaphysis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003015
2 aplasia/hypoplasia involving bones of the extremities 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0045060
3 coarse facial features 58 30 Frequent (33%) Frequent (79-30%)
HP:0000280
4 hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000365
5 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000316
6 flat face 58 30 Frequent (33%) Frequent (79-30%)
HP:0012368
7 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000347
8 myopia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000545
9 glossoptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000162
10 abnormally ossified vertebrae 58 30 Frequent (33%) Frequent (79-30%)
HP:0100569
11 hypoplastic pubic bone 58 30 Frequent (33%) Frequent (79-30%)
HP:0003173
12 short long bone 58 30 Frequent (33%) Frequent (79-30%)
HP:0003026
13 small epiphyses 58 30 Frequent (33%) Frequent (79-30%)
HP:0010585
14 cervical instability 58 30 Frequent (33%) Frequent (79-30%)
HP:0008462
15 carious teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000670
16 platyspondyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000926
17 maternal diabetes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009800
18 spinal cord compression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002176
19 laryngotracheomalacia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008755
20 limited hip movement 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008800
21 delayed ossification of carpal bones 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001216
22 restricted large joint movement 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005193
23 abnormal respiratory system physiology 30 Occasional (7.5%) HP:0002795
24 scoliosis 30 HP:0002650
25 hyperlordosis 30 HP:0003307
26 inguinal hernia 30 HP:0000023
27 pectus carinatum 30 HP:0000768
28 pes planus 30 HP:0001763
29 abnormal vertebral morphology 58 Frequent (79-30%)
30 genu valgum 30 HP:0002857
31 cleft palate 30 HP:0000175
32 brachydactyly 30 HP:0001156
33 coxa vara 30 HP:0002812
34 severe short stature 30 HP:0003510
35 protuberant abdomen 30 HP:0001538
36 anterior rib cupping 30 HP:0000907
37 metaphyseal irregularity 30 HP:0003025
38 hypoplasia of the odontoid process 30 HP:0003311
39 spondyloepimetaphyseal dysplasia 30 HP:0002651
40 functional respiratory abnormality 58 Occasional (29-5%)
41 delayed pubic bone ossification 30 HP:0008788
42 narrow greater sciatic notch 30 HP:0003375
43 c1-c2 subluxation 30 HP:0003320
44 club-shaped proximal femur 30 HP:0006406
45 metaphyseal dappling 30 HP:0011860

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis
platyspondyly
c1-c2 subluxation
lordosis
odontoid hypoplasia

Chest External Features:
pectus carinatum

Head And Neck Mouth:
cleft palate

Skeletal Hands:
brachydactyly

Abdomen External Features:
protuberant abdomen

Skeletal Limbs:
genu valga
generalized epiphyseal delay (infancy)
metaphyseal irregularity and sclerosis (childhood)
club-shaped proximal femurs (infancy)
dappled metaphyses (proximal femora, proximal humeri, distal radii, distal ulnae, and proximal and distal tibiae and fibulae)
more
Chest Ribs Sternum Clavicles And Scapulae:
anteriorly splayed ribs

Genitourinary External Genitalia Male:
inguinal hernia

Skeletal Feet:
pes planus

Head And Neck Eyes:
myopia

Skeletal Pelvis:
coxa vara
delayed pubic bone ossification
hypoplastic pubic bones
narrow sacrosciatic notches

Neurologic:
normal intelligence

Growth Height:
dwarfism, short-trunk, short-limbed

Clinical features from OMIM®:

184250 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Spondyloepimetaphyseal Dysplasia, Strudwick Type according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 ACAN CFAP410 COL10A1 COL11A1 COL11A2 COL1A2
2 no effect GR00402-S-2 10.15 ACAN CFAP410 COL11A1 COL11A2 COL1A2 COL2A1

MGI Mouse Phenotypes related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.28 ACAN COL11A2 COL1A2 COL2A1 COL9A1 COL9A2
2 nervous system MP:0003631 10.23 ACAN COL10A1 COL11A1 COL1A2 COL2A1 COL9A2
3 limbs/digits/tail MP:0005371 10.21 ACAN COL10A1 COL11A1 COL1A2 COL2A1 COL9A1
4 hearing/vestibular/ear MP:0005377 10.02 ACAN COL11A1 COL11A2 COL2A1 COL9A1 COL9A2
5 cardiovascular system MP:0005385 10 ACAN COL11A1 COL11A2 COL1A2 COL2A1 COMP
6 immune system MP:0005387 10 ACAN CFAP410 COL10A1 COL11A1 COL1A2 COL2A1
7 craniofacial MP:0005382 9.97 ACAN COL10A1 COL11A1 COL11A2 COL2A1 FBN1
8 respiratory system MP:0005388 9.56 ACAN COL11A1 COL2A1 FBN1 FGFR3 PCYT1A
9 skeleton MP:0005390 9.44 ACAN COL10A1 COL11A1 COL11A2 COL1A2 COL2A1

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An International Prospective Natural History Study in Children With a Type II Collagen Disorder With Short Stature Recruiting NCT05408715

Search NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Genetic tests related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

# Genetic test Affiliating Genes
1 Spondylometaphyseal Dysplasia 28
2 Spondyloepimetaphyseal Dysplasia, Strudwick Type 28 COL2A1

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Organs/tissues related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

MalaCards : Bone, Spinal Cord, Eye

Publications for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Articles related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

(show top 50) (show all 158)
# Title Authors PMID Year
1
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. 53 62 57 5
7550321 1995
2
Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. 62 57 5
16088915 2005
3
Spondylometaphyseal dysplasia. 62 57
4199241 1973
4
Spondylometaphyseal dysplasia (Kozlowski). Report of affected mother and son. 62 57
5000428 1971
5
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. 5
34008892 2021
6
Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen. 5
17347327 2007
7
Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD). 5
8723096 1996
8
A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia. 5
8486375 1993
9
Autosomal recessive spondylometepiphyseal dysplasia, type Strudwick. 57
6702905 1984
10
Genetic heterogeneity of spondyloepiphyseal dysplasia congenita? 57
6817636 1982
11
Spondylometepiphyseal dysplasia, Strudwick type. 57
6817637 1982
12
Spondylometaepiphyseal dysplasia in a mother and her child. 57
110035 1979
13
[Spondylo-metaphyseal dysostosis. 2 cases]. 57
4987884 1970
14
[2 familial cases of spondylo-metaphyseal dysplasia]. 57
4987138 1970
15
[Kozlowski-Maroteaux-Spranger spondylo-metaphyseal dysostosis]. 57
4987883 1970
16
[Spondylo-metaphysial dysostosis (type Kozlowski-Maroteaux-Spranger)]. 57
4981286 1969
17
Combined metaphyseal and epiphyseal dysostosis. Report of two cases--one, in which metaphyseal changes predominate, and a second one, in which epiphyseal changes are more marked. 57
4957100 1966
18
Severe neonatal spondylometaphyseal dysplasia in two siblings. 53 62
19764033 2009
19
Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. 53 62
16280719 2006
20
Spondylar dysplasia in type X collagenopathy. 53 62
11214689 2001
21
Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. 53 62
9837818 1998
22
Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition. 53 62
8361538 1993
23
Human skeletal dysplasia causing L596P-mutant alters the conserved amino acid pattern at the lipid-water-Interface of TRPV4. 62
36403799 2022
24
A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants. 62
36341712 2022
25
Sedaghatian spondylometaphyseal dysplasia in two siblings. 62
35718083 2022
26
Fibronectin isoforms in skeletal development and associated disorders. 62
35759430 2022
27
Automated reanalysis application to assist in detecting novel gene-disease associations after genome sequencing. 62
34949530 2022
28
NFE2L1-mediated proteasome function protects from ferroptosis. 62
34999280 2022
29
Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review. 62
34806157 2022
30
Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin-B receptor (LBR)-related regressive spondylometaphyseal dysplasia. 62
34467646 2022
31
Characterization of a patient-derived variant of GPX4 for precision therapy. 62
34931062 2022
32
Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US. 62
34949201 2021
33
Missense mutation in selenocysteine synthase causes cardio-respiratory failure and perinatal death in mice which can be compensated by selenium-independent GPX4. 62
34794077 2021
34
Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities. 62
34688299 2021
35
Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1). 62
33605604 2021
36
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype. 62
33774370 2021
37
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination. 62
33439541 2021
38
Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4. 62
32827718 2020
39
Spondylometaphyseal Dysplasia, Corner Fracture Type 62
32200603 2020
40
A novel sequence variant in COL10A1 causing spondylometaphyseal dysplasia accompanied with coxa valga: A case report. 62
31348255 2019
41
Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant. 62
31191204 2019
42
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures". 62
30599297 2019
43
Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. 62
30779713 2019
44
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. 62
30773277 2019
45
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes. 62
30561119 2019
46
Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCT╬▒ impair enzymatic activity and fold stability. 62
30559292 2019
47
Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia. 62
30051459 2018
48
Surgical Orthopedics in a Spondylometaphyseal Dysplastic Patient. 62
29180078 2018
49
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy. 62
29122926 2018
50
Sperm RNA elements as markers of health. 62
29199464 2018

Variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type:

5 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL2A1 NM_001844.5(COL2A1):c.2725G>T (p.Gly909Cys) SNV Pathogenic
17367 rs121912875 GRCh37: 12:48373302-48373302
GRCh38: 12:47979519-47979519
2 COL2A1 NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys) SNV Pathogenic
17377 rs121912880 GRCh37: 12:48380136-48380136
GRCh38: 12:47986353-47986353
3 COL2A1 NM_001844.5(COL2A1):c.1475G>T (p.Gly492Val) SNV Pathogenic
17378 rs121912881 GRCh37: 12:48380171-48380171
GRCh38: 12:47986388-47986388
4 COL2A1 NM_001844.5(COL2A1):c.3554G>A (p.Gly1185Glu) SNV Pathogenic
1326881 GRCh37: 12:48369789-48369789
GRCh38: 12:47976006-47976006
5 COL2A1 NM_001844.5(COL2A1):c.1348G>C (p.Gly450Arg) SNV Pathogenic
1326897 GRCh37: 12:48380878-48380878
GRCh38: 12:47987095-47987095
6 COL2A1 NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) SNV Pathogenic
1224342 GRCh37: 12:48371427-48371427
GRCh38: 12:47977644-47977644
7 COL2A1 NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) SNV Pathogenic
449001 rs1555168505 GRCh37: 12:48387611-48387611
GRCh38: 12:47993828-47993828
8 COL2A1 NM_001844.5(COL2A1):c.2974A>G (p.Arg992Gly) SNV Pathogenic
17397 rs121912895 GRCh37: 12:48372103-48372103
GRCh38: 12:47978320-47978320
9 COL2A1 NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg) SNV Pathogenic
Likely Pathogenic
17363 rs121912871 GRCh37: 12:48383552-48383552
GRCh38: 12:47989769-47989769
10 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) SNV Pathogenic
195148 rs794727261 GRCh37: 12:48393736-48393736
GRCh38: 12:47999953-47999953
11 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) SNV Pathogenic
17366 rs121912874 GRCh37: 12:48372112-48372112
GRCh38: 12:47978329-47978329
12 COL2A1 NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) SNV Pathogenic
17361 rs121912870 GRCh37: 12:48369754-48369754
GRCh38: 12:47975971-47975971
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.1573G>A (p.Gly525Ser) SNV Likely Pathogenic
1676793 GRCh37: 12:48379703-48379703
GRCh38: 12:47985920-47985920
15 FN1 NM_212482.4(FN1):c.2422ACA[1] (p.Thr809del) MICROSAT Likely Pathogenic
424648 rs1553636502 GRCh37: 2:216273022-216273024
GRCh38: 2:215408299-215408301
16 FN1 NM_212482.4(FN1):c.260G>T (p.Cys87Phe) SNV Likely Pathogenic
424643 rs1553669703 GRCh37: 2:216299436-216299436
GRCh38: 2:215434713-215434713
17 FN1 NM_212482.4(FN1):c.718T>G (p.Tyr240Asp) SNV Likely Pathogenic
424646 rs1553659131 GRCh37: 2:216293029-216293029
GRCh38: 2:215428306-215428306
18 FN1 NM_212482.4(FN1):c.638G>A (p.Cys213Tyr) SNV Likely Pathogenic
549707 rs1559604072 GRCh37: 2:216295485-216295485
GRCh38: 2:215430762-215430762
19 COL2A1 NM_001844.5(COL2A1):c.1043G>A (p.Gly348Asp) SNV Likely Pathogenic
1347701 GRCh37: 12:48383569-48383569
GRCh38: 12:47989786-47989786
20 FN1 NM_212482.4(FN1):c.367T>C (p.Cys123Arg) SNV Likely Pathogenic
424644 rs1553667072 GRCh37: 2:216298095-216298095
GRCh38: 2:215433372-215433372
21 FN1 NM_212482.4(FN1):c.778T>G (p.Cys260Gly) SNV Likely Pathogenic
424647 rs1553658926 GRCh37: 2:216292969-216292969
GRCh38: 2:215428246-215428246
22 FN1 NM_212482.4(FN1):c.675C>G (p.Cys225Trp) SNV Likely Pathogenic
424645 rs1181638652 GRCh37: 2:216295448-216295448
GRCh38: 2:215430725-215430725
23 FN1 NM_212482.4(FN1):c.368G>A (p.Cys123Tyr) SNV Likely Pathogenic
549708 rs1559616744 GRCh37: 2:216298094-216298094
GRCh38: 2:215433371-215433371
24 FN1 NM_212482.4(FN1):c.506G>A (p.Cys169Tyr) SNV Likely Pathogenic
549709 rs1559609410 GRCh37: 2:216296597-216296597
GRCh38: 2:215431874-215431874
25 FN1 NM_212482.4(FN1):c.693C>G (p.Cys231Trp) SNV Likely Pathogenic
421465 rs1064795155 GRCh37: 2:216293054-216293054
GRCh38: 2:215428331-215428331
26 FN1 NM_212482.4(FN1):c.773G>A (p.Cys258Tyr) SNV Likely Pathogenic
450072 rs1553658948 GRCh37: 2:216292974-216292974
GRCh38: 2:215428251-215428251
27 COL2A1 NM_001844.5(COL2A1):c.2167G>A (p.Gly723Ser) SNV Likely Pathogenic
1320218 GRCh37: 12:48376657-48376657
GRCh38: 12:47982874-47982874
28 COL2A1 NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) SNV Uncertain Significance
547841 rs886042009 GRCh37: 12:48374344-48374344
GRCh38: 12:47980561-47980561
29 COL2A1 NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) SNV Uncertain Significance
308931 rs142770543 GRCh37: 12:48388220-48388220
GRCh38: 12:47994437-47994437
30 TRPV4 NM_021625.5(TRPV4):c.2484C>T (p.Arg828=) SNV Likely Benign
307122 rs142656819 GRCh37: 12:110221558-110221558
GRCh38: 12:109783753-109783753
31 TRPV4, MIR4497 NR_039718.1(MIR4497):n.66C>T SNV Likely Benign
368980 rs56079803 GRCh37: 12:110271218-110271218
GRCh38: 12:109833413-109833413
32 FN1 NM_212482.4(FN1):c.44A>T (p.Gln15Leu) SNV Benign
801895 rs1250259 GRCh37: 2:216300482-216300482
GRCh38: 2:215435759-215435759

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type:

73
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Gly492Val VAR_001745 rs121912881
2 COL2A1 p.Gly504Cys VAR_001746 rs121912880
3 COL2A1 p.Gly909Cys VAR_001753 rs121912875
4 COL2A1 p.Gly897Val VAR_023931
5 COL2A1 p.Arg992Gly VAR_023932 rs121912895

Expression for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Strudwick Type.

Pathways for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Pathways related to Spondyloepimetaphyseal Dysplasia, Strudwick Type according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 ACAN COL10A1 COL11A1 COL11A2 COL1A2 COL2A1
2 13.71 PTH1R FN1 FGFR3 FBN1 COL9A3 COL9A2
3
Show member pathways
13.34 ACAN COL10A1 COL11A1 COL11A2 COL1A2 COL2A1
4
Show member pathways
12.93 ACAN COL10A1 COL11A1 COL11A2 COL1A2 COL2A1
5
Show member pathways
12.83 FN1 FGFR3 COMP COL9A3 COL9A2 COL9A1
6
Show member pathways
12.79 COL9A3 COL9A2 COL9A1 COL2A1 COL1A2 COL11A2
7 12.78 FN1 FGFR3 COL9A3 COL9A2 COL9A1 COL2A1
8
Show member pathways
12.42 FN1 FBN1 COL2A1 COL1A2 COL11A2 COL11A1
9 12.19 FN1 COMP COL2A1 COL1A2
10
Show member pathways
12.19 FN1 COL2A1 COL1A2 COL11A2 COL11A1 COL10A1
11
Show member pathways
12.05 ACAN COL10A1 COL2A1 FGFR3 PTH1R
12
Show member pathways
12.04 FN1 FBN1 COMP COL9A3 COL9A2 COL9A1
13
Show member pathways
11.9 COL9A3 COL9A2 COL9A1 COL2A1
14
Show member pathways
11.88 FN1 FBN1 COMP COL9A3 COL9A2 COL9A1
15
Show member pathways
11.81 COL9A3 COL9A2 COL9A1 COL2A1
16 11.8 FGFR3 COL2A1 COL11A2
17 11.77 FN1 COL2A1 ACAN
18 11.66 FGFR3 FBN1 COL1A2
19 11.59 FN1 COL2A1 COL1A2 COL11A2 COL11A1
20 11.56 FN1 COL2A1 COL1A2
21 11.38 FN1 COMP COL2A1 ACAN
22 11.35 COL1A2 FBN1 FN1
23 11.24 COL11A1 COL11A2 COL1A2 COL2A1 FGFR3
24 11.01 FN1 COL1A2
25 10.88 FN1 COL2A1
26 10.85 FN1 FBN1
27 10.84 FN1 FGFR3 FBN1 COL9A3 COL9A2 COL9A1

GO Terms for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Cellular components related to Spondyloepimetaphyseal Dysplasia, Strudwick Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.55 ACAN COL10A1 COL11A1 COL11A2 COL1A2 COL2A1
2 extracellular space GO:0005615 10.5 FN1 FBN1 COMP COL9A3 COL9A2 COL9A1
3 endoplasmic reticulum lumen GO:0005788 10.26 COL10A1 COL11A1 COL11A2 COL1A2 COL2A1 COL9A1
4 basement membrane GO:0005604 10.06 FN1 FBN1 COL9A3 COL9A1 COL2A1 ACAN
5 collagen-containing extracellular matrix GO:0062023 10.03 ACAN COL10A1 COL11A1 COL11A2 COL1A2 COL2A1
6 collagen trimer GO:0005581 9.9 COL9A3 COL9A2 COL9A1 COL2A1 COL1A2 COL11A2
7 collagen type XI trimer GO:0005592 9.88 COL2A1 COL11A2 COL11A1
8 collagen type IX trimer GO:0005594 9.85 COL9A1 COL9A2 COL9A3
9 extracellular matrix GO:0031012 9.7 FN1 FBN1 COMP COL9A3 COL9A2 COL9A1

Biological processes related to Spondyloepimetaphyseal Dysplasia, Strudwick Type according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 bone mineralization GO:0030282 9.92 PTH1R FGFR3 COMP COL1A2
2 chondrocyte differentiation GO:0002062 9.91 PTH1R FGFR3 COL2A1 COL11A2
3 collagen fibril organization GO:0030199 9.9 COMP COL2A1 COL1A2 COL11A2 COL11A1 ACAN
4 cartilage development GO:0051216 9.88 COMP COL2A1 COL11A2 COL11A1
5 extracellular matrix organization GO:0030198 9.86 COL10A1 COL11A1 COL11A2 COL1A2 COL2A1 COL9A1
6 cartilage condensation GO:0001502 9.85 COL2A1 COL11A1 ACAN
7 proteoglycan metabolic process GO:0006029 9.84 COL2A1 COL11A1
8 chondrocyte development GO:0002063 9.83 ACAN COL11A1 COMP
9 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.81 TRPV4 COL2A1
10 ossification GO:0001503 9.8 COL11A1 COL2A1 COMP PAM16 PTH1R
11 tendon development GO:0035989 9.78 COMP COL11A1
12 endochondral bone growth GO:0003416 9.7 FGFR3 COMP
13 skeletal system morphogenesis GO:0048705 9.67 COL2A1 COL11A2 COL11A1
14 skeletal system development GO:0001501 9.66 SHOX PTH1R FGFR3 FBN1 COMP COL9A2

Molecular functions related to Spondyloepimetaphyseal Dysplasia, Strudwick Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.86 FN1 FBN1 COMP COL11A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.86 COL10A1 COL11A1 COL11A2 COL1A2 COL2A1 COL9A1
3 extracellular matrix structural constituent GO:0005201 9.7 FN1 FBN1 COMP COL9A3 COL9A2 COL9A1
4 proteoglycan binding GO:0043394 9.63 FN1 COMP COL2A1
5 platelet-derived growth factor binding GO:0048407 9.62 COL2A1 COL1A2

Sources for Spondyloepimetaphyseal Dysplasia, Strudwick Type

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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