SEMDSTWK
MCID: SPN028
MIFTS: 50

Spondyloepimetaphyseal Dysplasia, Strudwick Type (SEMDSTWK)

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

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Strudwick Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Strudwick Type:

Name: Spondyloepimetaphyseal Dysplasia, Strudwick Type 57 12 73 43 72 6 15
Spondylometaphyseal Dysplasia 57 73 43 58 72 36 29 54 6
Strudwick Syndrome 57 73 20 43 72 70
Dappled Metaphysis Syndrome 57 20 43 72
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type 57 43 72
Semd, Strudwick Type 57 43 72
Smed, Strudwick Type 57 43 72
Smed Strudwick Type 57 20 13
Smd 57 20 72
Smed, Type I 57 43
Smed Type 1 20 72
Semdstwk 57 72
Semdc 57 72
Spondyloepiphyseal Dysplasia Congenita with Dappled Metaphyses 72
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type 58
Dysplasia, Spondyloepimetaphyseal, Strudwick Type 39
Spondyloepimetaphyseal Dysplasia Strudwick Type 20
Spondylometaphyseal Dysplasia; Smd 57
Dysplasia, Spondylometaphyseal 39
Sed Strudwick 43
Smed Type I 72

Characteristics:

Orphanet epidemiological data:

58
spondylometaphyseal dysplasia
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy; Age of death: any age;
spondyloepimetaphyseal dysplasia congenita, strudwick type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
spondyloepimetaphyseal dysplasia, strudwick type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Spondyloepimetaphyseal Dysplasia, Strudwick Type

MedlinePlus Genetics : 43 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 metaphyseal dysplasia and coxa vara. An important gene associated with Spondyloepimetaphyseal Dysplasia, Strudwick Type is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are Degradation of the extracellular matrix and PI3K-Akt signaling pathway. Affiliated tissues include eye, bone and spinal cord, and related phenotypes are platyspondyly and flared metaphysis

Disease Ontology : 12 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).

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93346 Definition 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). Epidemiology The syndrome has been described in less than 30 patients so far. Clinical description Cleft palate and eye abnormalities (severe myopia and retinal detachment) are frequently associated. Arthritis may develop early in life. Etiology This condition is caused by mutations in the COL2A1 gene (12q13.11-q13.2). Genetic counseling It is inherited in an autosomal dominant manner.

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 20-May-2021)

KEGG : 36 The spondylometaphyseal dysplasias (SMD) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. Aside from the most common SMD Kozlowski type (SMDK) and the second most common SMD corner fracture type (SMDCF), there are several rare subtypes and numerous unclassifiable cases of SMD.

UniProtKB/Swiss-Prot : 72 Spondyloepimetaphyseal dysplasia, Strudwick type: 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.

Wikipedia : 73 Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in... 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 138)
# Related Disease Score Top Affiliating Genes
1 metaphyseal dysplasia 30.6 COL2A1 COL10A1
2 coxa vara 30.4 COL2A1 COL10A1
3 spondylometaphyseal dysplasia, corner fracture type 30.4 FN1 COL2A1
4 spondyloepiphyseal dysplasia congenita 30.4 COL2A1 COL10A1
5 achondrogenesis, type ii 30.3 COL2A1 COL10A1
6 achondrogenesis 30.3 COL2A1 COL10A1
7 stickler syndrome 29.9 COL2A1 COL10A1
8 osteochondrodysplasia 29.5 FN1 CREB3L1 COL2A1 COL10A1
9 spondylometaphyseal dysplasia, sedaghatian type 11.8
10 spondylometaphyseal dysplasia, kozlowski type 11.8
11 spondylometaphyseal dysplasia, axial 11.8
12 spondylometaphyseal dysplasia with cone-rod dystrophy 11.8
13 spondylometaphyseal dysplasia, algerian type 11.7
14 spondylometaphyseal dysplasia, megarbane-dagher-melki type 11.7
15 spondylometaphyseal dysplasia, x-linked 11.6
16 calvarial doughnut lesions with bone fragility 11.6
17 spondylometaphyseal dysplasia, type a4 11.6
18 spondylometaphyseal dysplasia with corneal dystrophy 11.6
19 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy 11.5
20 odontochondrodysplasia 1 11.5
21 metaphyseal chondrodysplasia, schmid type 11.5
22 spondyloenchondrodysplasia with immune dysregulation 11.4
23 pelger-huet anomaly with mild skeletal anomalies 11.4
24 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism 11.4
25 spondylometaphyseal dysplasia, east african type 11.3
26 spondylometaphyseal dysplasia, czarny-ratajczak type 11.1
27 stereotypic movement disorder 11.1
28 brachyolmia type 3 11.0
29 opsismodysplasia 11.0
30 polycythemia vera 10.9
31 spondyloepimetaphyseal dysplasia 10.5
32 cone-rod dystrophy 2 10.4
33 dwarfism 10.3
34 spondyloepiphyseal dysplasia with congenital joint dislocations 10.2
35 kniest dysplasia 10.2
36 retinal detachment 10.2
37 autosomal recessive disease 10.2
38 scoliosis 10.2
39 hypochondrogenesis 10.2
40 myopia 10.2
41 chondroma 10.2
42 enchondroma 10.2
43 hip subluxation 10.2
44 pectus carinatum 10.2
45 vitreoretinal degeneration 10.2
46 dysspondyloenchondromatosis 10.2
47 retinitis pigmentosa 10.2
48 neuroretinitis 10.2
49 retinitis 10.2
50 fundus dystrophy 10.2

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 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 platyspondyly 58 31 hallmark (90%) Occasional (29-5%) HP:0000926
2 flared metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003015
3 aplasia/hypoplasia involving bones of the extremities 58 31 hallmark (90%) Very frequent (99-80%) HP:0045060
4 gait disturbance 31 hallmark (90%) HP:0001288
5 hip dysplasia 31 hallmark (90%) HP:0001385
6 abnormality of the metaphysis 31 hallmark (90%) HP:0000944
7 rhizomelia 31 hallmark (90%) HP:0008905
8 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
9 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
10 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
11 flat face 58 31 frequent (33%) Frequent (79-30%) HP:0012368
12 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
13 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
14 glossoptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000162
15 abnormally ossified vertebrae 58 31 frequent (33%) Frequent (79-30%) HP:0100569
16 hypoplastic pubic bone 58 31 frequent (33%) Frequent (79-30%) HP:0003173
17 short long bone 58 31 frequent (33%) Frequent (79-30%) HP:0003026
18 small epiphyses 58 31 frequent (33%) Frequent (79-30%) HP:0010585
19 cervical instability 58 31 frequent (33%) Frequent (79-30%) HP:0008462
20 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
21 maternal diabetes 58 31 occasional (7.5%) Occasional (29-5%) HP:0009800
22 spinal cord compression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002176
23 laryngotracheomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008755
24 limited hip movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0008800
25 delayed ossification of carpal bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0001216
26 restricted large joint movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0005193
27 abnormal respiratory system physiology 31 occasional (7.5%) HP:0002795
28 scoliosis 31 HP:0002650
29 hyperlordosis 31 HP:0003307
30 inguinal hernia 31 HP:0000023
31 pectus carinatum 31 HP:0000768
32 pes planus 31 HP:0001763
33 abnormal vertebral morphology 58 Frequent (79-30%)
34 genu valgum 31 HP:0002857
35 cleft palate 31 HP:0000175
36 brachydactyly 31 HP:0001156
37 coxa vara 31 HP:0002812
38 hypoplasia of the odontoid process 31 HP:0003311
39 severe short stature 31 HP:0003510
40 protuberant abdomen 31 HP:0001538
41 anterior rib cupping 31 HP:0000907
42 metaphyseal irregularity 31 HP:0003025
43 spondyloepimetaphyseal dysplasia 31 HP:0002651
44 functional respiratory abnormality 58 Occasional (29-5%)
45 delayed pubic bone ossification 31 HP:0008788
46 c1-c2 subluxation 31 HP:0003320
47 club-shaped proximal femur 31 HP:0006406
48 narrow greater sciatic notch 31 HP:0003375
49 metaphyseal dappling 31 HP:0011860

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Search Clinical Trials , 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 29 COL2A1

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Strudwick Type

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

40
Eye, Bone, Spinal Cord

Publications for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Articles related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

(show top 50) (show all 143)
# Title Authors PMID Year
1
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. 54 61 6 57
7550321 1995
2
Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. 6 57
16088915 2005
3
Spondylometaphyseal dysplasia. 61 57
4199241 1973
4
Spondylometaphyseal dysplasia (Kozlowski). Report of affected mother and son. 61 57
5000428 1971
5
Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD). 6
8723096 1996
6
A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia. 6
8486375 1993
7
Autosomal recessive spondylometepiphyseal dysplasia, type Strudwick. 57
6702905 1984
8
Spondylometepiphyseal dysplasia, Strudwick type. 57
6817637 1982
9
Genetic heterogeneity of spondyloepiphyseal dysplasia congenita? 57
6817636 1982
10
Spondylometaepiphyseal dysplasia in a mother and her child. 57
110035 1979
11
[Kozlowski-Maroteaux-Spranger spondylo-metaphyseal dysostosis]. 57
4987883 1970
12
[2 familial cases of spondylo-metaphyseal dysplasia]. 57
4987138 1970
13
[Spondylo-metaphyseal dysostosis. 2 cases]. 57
4987884 1970
14
[Spondylo-metaphysial dysostosis (type Kozlowski-Maroteaux-Spranger)]. 57
4981286 1969
15
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
16
Severe neonatal spondylometaphyseal dysplasia in two siblings. 61 54
19764033 2009
17
Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. 61 54
16280719 2006
18
Spondylar dysplasia in type X collagenopathy. 61 54
11214689 2001
19
Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. 61 54
9837818 1998
20
Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition. 54 61
8361538 1993
21
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination. 61
33439541 2021
22
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype. 61
33774370 2021
23
Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1). 61
33605604 2021
24
Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4. 61
32827718 2020
25
Spondylometaphyseal Dysplasia, Corner Fracture Type 61
32200603 2020
26
A novel sequence variant in COL10A1 causing spondylometaphyseal dysplasia accompanied with coxa valga: A case report. 61
31348255 2019
27
Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant. 61
31191204 2019
28
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures". 61
30599297 2019
29
Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. 61
30779713 2019
30
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. 61
30773277 2019
31
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes. 61
30561119 2019
32
Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCT╬▒ impair enzymatic activity and fold stability. 61
30559292 2019
33
Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia. 61
30051459 2018
34
Surgical Orthopedics in a Spondylometaphyseal Dysplastic Patient. 61
29180078 2018
35
Sperm RNA elements as markers of health. 61
29199464 2018
36
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy. 61
29122926 2018
37
Spondyloepiphyseal or spondylometaphyseal dysplasia in ancient Greek art. 61
29194044 2018
38
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. 61
28842795 2017
39
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". 61
29100092 2017
40
SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae. 61
28687525 2017
41
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum. 61
28422394 2017
42
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy. 61
28272537 2017
43
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations. 61
28123176 2017
44
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. 61
27888646 2017
45
Spondylometaphyseal dysplasia: an uncommon disease. 61
28298736 2017
46
Spondylometaphyseal Dysplasia Corner Fracture (Sutcliffe) Type. 61
27130511 2016
47
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. 61
26974433 2016
48
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). 61
26250472 2015
49
Brace treatment of thoracolumbar kyphosis in spondylometaphyseal dysplasia with restoration of vertebral morphology and sagittal profile: a case report. 61
24291408 2015
50
Spondylometaphyseal dysplasia with developmental cataract: first report of the association in two sibling pairs. 61
25798709 2015

Variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type:

6 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL2A1 NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg) SNV Pathogenic 17363 rs121912871 GRCh37: 12:48383552-48383552
GRCh38: 12:47989769-47989769
2 COL2A1 NM_001844.5(COL2A1):c.2725G>T (p.Gly909Cys) SNV Pathogenic 17367 rs121912875 GRCh37: 12:48373302-48373302
GRCh38: 12:47979519-47979519
3 COL2A1 NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys) SNV Pathogenic 17377 rs121912880 GRCh37: 12:48380136-48380136
GRCh38: 12:47986353-47986353
4 COL2A1 NM_001844.5(COL2A1):c.1475G>T (p.Gly492Val) SNV Pathogenic 17378 rs121912881 GRCh37: 12:48380171-48380171
GRCh38: 12:47986388-47986388
5 COL2A1 NM_001844.5(COL2A1):c.2974A>G (p.Arg992Gly) SNV Pathogenic 17397 rs121912895 GRCh37: 12:48372103-48372103
GRCh38: 12:47978320-47978320
6 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) SNV Pathogenic 17366 rs121912874 GRCh37: 12:48372112-48372112
GRCh38: 12:47978329-47978329
7 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) SNV Pathogenic 195148 rs794727261 GRCh37: 12:48393736-48393736
GRCh38: 12:47999953-47999953
8 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) SNV Pathogenic 17395 rs121912893 GRCh37: 12:48377504-48377504
GRCh38: 12:47983721-47983721
9 COL2A1 NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) SNV Pathogenic 449001 rs1555168505 GRCh37: 12:48387611-48387611
GRCh38: 12:47993828-47993828
10 FN1 NM_002026.3(FN1):c.2422_2424ACA[1] (p.Thr809del) Microsatellite Likely pathogenic 424648 rs1553636502 GRCh37: 2:216273022-216273024
GRCh38: 2:215408299-215408301
11 FN1 NM_212482.3(FN1):c.260G>T (p.Cys87Phe) SNV Likely pathogenic 424643 rs1553669703 GRCh37: 2:216299436-216299436
GRCh38: 2:215434713-215434713
12 FN1 NM_212482.3(FN1):c.718T>G (p.Tyr240Asp) SNV Likely pathogenic 424646 rs1553659131 GRCh37: 2:216293029-216293029
GRCh38: 2:215428306-215428306
13 FN1 NM_212482.3(FN1):c.638G>A (p.Cys213Tyr) SNV Likely pathogenic 549707 rs1559604072 GRCh37: 2:216295485-216295485
GRCh38: 2:215430762-215430762
14 FN1 NM_212482.3(FN1):c.368G>A (p.Cys123Tyr) SNV Likely pathogenic 549708 rs1559616744 GRCh37: 2:216298094-216298094
GRCh38: 2:215433371-215433371
15 FN1 NM_212482.3(FN1):c.506G>A (p.Cys169Tyr) SNV Likely pathogenic 549709 rs1559609410 GRCh37: 2:216296597-216296597
GRCh38: 2:215431874-215431874
16 FN1 NM_212482.3(FN1):c.693C>G (p.Cys231Trp) SNV Likely pathogenic 421465 rs1064795155 GRCh37: 2:216293054-216293054
GRCh38: 2:215428331-215428331
17 FN1 NM_212482.3(FN1):c.773G>A (p.Cys258Tyr) SNV Likely pathogenic 450072 rs1553658948 GRCh37: 2:216292974-216292974
GRCh38: 2:215428251-215428251
18 FN1 NM_212482.3(FN1):c.367T>C (p.Cys123Arg) SNV Likely pathogenic 424644 rs1553667072 GRCh37: 2:216298095-216298095
GRCh38: 2:215433372-215433372
19 FN1 NM_212482.3(FN1):c.778T>G (p.Cys260Gly) SNV Likely pathogenic 424647 rs1553658926 GRCh37: 2:216292969-216292969
GRCh38: 2:215428246-215428246
20 FN1 NM_212482.3(FN1):c.675C>G (p.Cys225Trp) SNV Likely pathogenic 424645 rs1181638652 GRCh37: 2:216295448-216295448
GRCh38: 2:215430725-215430725
21 COL2A1 NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) SNV Uncertain significance 547841 rs886042009 GRCh37: 12:48374344-48374344
GRCh38: 12:47980561-47980561
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 TRPV4 NM_021625.4(TRPV4):c.2484C>T (p.Arg828=) SNV Likely benign 307122 rs142656819 GRCh37: 12:110221558-110221558
GRCh38: 12:109783753-109783753
24 TRPV4 , MIR4497 NR_039718.1(MIR4497):n.66C>T SNV Likely benign 368980 rs56079803 GRCh37: 12:110271218-110271218
GRCh38: 12:109833413-109833413
25 FN1 NM_002026.3(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:

72
# 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

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 space GO:0005615 9.67 INA FN1 COL2A1 COL10A1
2 collagen-containing extracellular matrix GO:0062023 9.33 FN1 COL2A1 COL10A1
3 basement membrane GO:0005604 9.32 FN1 COL2A1
4 collagen trimer GO:0005581 9.26 COL2A1 COL10A1
5 endoplasmic reticulum lumen GO:0005788 9.13 FN1 COL2A1 COL10A1
6 extracellular matrix GO:0031012 8.8 FN1 COL2A1 COL10A1

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

# Name GO ID Score Top Affiliating Genes
1 response to unfolded protein GO:0006986 9.26 CREB3L3 CREB3L1
2 endoplasmic reticulum unfolded protein response GO:0030968 9.16 CREB3L3 CREB3L1
3 extracellular matrix organization GO:0030198 9.13 FN1 COL2A1 COL10A1
4 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 8.62 CREB3L3 CREB3L1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.26 COL2A1 COL10A1
2 cAMP response element binding GO:0035497 9.16 CREB3L3 CREB3L1
3 proteoglycan binding GO:0043394 8.96 FN1 COL2A1
4 extracellular matrix structural constituent GO:0005201 8.8 FN1 COL2A1 COL10A1

Sources for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....