SEMDSTWK
MCID: SPN028
MIFTS: 51

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 56 12 74 25 73 15
Spondylometaphyseal Dysplasia 56 74 25 58 73 36 29 54 6
Strudwick Syndrome 56 74 52 25 73 71
Dappled Metaphysis Syndrome 56 52 25 73
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type 56 25 73
Semd, Strudwick Type 56 25 73
Smed, Strudwick Type 56 25 73
Smed Strudwick Type 56 52 13
Smd 56 52 73
Smed, Type I 56 25
Smed Type 1 52 73
Semdstwk 56 73
Semdc 56 73
Spondyloepiphyseal Dysplasia Congenita with Dappled Metaphyses 73
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type 58
Dysplasia, Spondyloepimetaphyseal, Strudwick Type 39
Spondyloepimetaphyseal Dysplasia Strudwick Type 52
Spondylometaphyseal Dysplasia; Smd 56
Dysplasia, Spondylometaphyseal 39
Sed Strudwick 25
Smed Type I 73

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:

56
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

Genetics Home Reference : 25 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 odontochondrodysplasia 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 PI3K-Akt signaling pathway and Amphetamine addiction. Affiliated tissues include bone, eye and spinal cord, and related phenotypes are abnormality of epiphysis morphology and gait disturbance

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).

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

OMIM : 56 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)

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 : 73 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 : 74 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 140)
# Related Disease Score Top Affiliating Genes
1 odontochondrodysplasia 32.2 SEMA3A COL2A1 COL10A1
2 coxa vara 30.6 COL2A1 COL10A1
3 spondyloepiphyseal dysplasia congenita 30.6 COL2A1 COL10A1
4 pyle disease 30.6 COL2A1 COL10A1
5 achondrogenesis 30.5 COL2A1 COL10A1
6 spondyloepimetaphyseal dysplasia, matrilin-3 related 30.5 SEMA3A COL2A1
7 hypochondrogenesis 30.5 SEMA3A COL2A1
8 achondrogenesis, type ii 30.5 SEMA3A COL2A1
9 kniest dysplasia 30.5 SEMA3A COL2A1
10 spondyloepiphyseal dysplasia with congenital joint dislocations 30.2 SEMA3A COL2A1
11 brachyolmia 30.0 SEMA3A COL2A1
12 spondylometaphyseal dysplasia, corner fracture type 12.9
13 spondylometaphyseal dysplasia, kozlowski type 12.9
14 spondylometaphyseal dysplasia, algerian type 12.8
15 spondylometaphyseal dysplasia, megarbane-dagher-melki type 12.8
16 spondylometaphyseal dysplasia, type a4 12.7
17 spondylometaphyseal dysplasia, x-linked 12.6
18 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism 12.5
19 spondylometaphyseal dysplasia, east african type 12.4
20 obsolete: unclassified spondylometaphyseal dysplasia 12.3
21 spondylometaphyseal dysplasia, czarny-ratajczak type 12.3
22 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy 12.2
23 metaphyseal chondrodysplasia, schmid type 12.2
24 calvarial doughnut lesions with bone fragility 12.1
25 spondyloenchondrodysplasia with immune dysregulation 11.8
26 pelger-huet anomaly with mild skeletal anomalies 11.8
27 spondyloenchondrodysplasia 11.7
28 spondylometaphyseal dysplasia, sedaghatian type 11.7
29 spondylometaphyseal dysplasia with cone-rod dystrophy 11.5
30 spondylometaphyseal dysplasia, axial 11.5
31 stereotypic movement disorder 11.3
32 brachyolmia type 3 11.3
33 opsismodysplasia 11.3
34 polycythemia vera 11.2
35 cone-rod dystrophy 2 10.5
36 dwarfism 10.4
37 skeletal dysplasias 10.4
38 retinal detachment 10.3
39 autosomal recessive disease 10.3
40 scoliosis 10.3
41 stickler syndrome 10.3
42 myopia 10.3
43 chondroma 10.3
44 enchondroma 10.3
45 hip subluxation 10.3
46 pectus carinatum 10.3
47 vitreoretinal degeneration 10.3
48 dysspondyloenchondromatosis 10.3
49 retinitis pigmentosa 10.3
50 neuroretinitis 10.3

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 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
2 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001288
3 hyperlordosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003307
4 hip dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001385
5 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000944
6 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000926
7 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
8 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
9 rhizomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008905
10 abnormality of the sternum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000766
11 disproportionate short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003498
12 spondyloepimetaphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002651
13 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
14 osteoarthritis 58 31 frequent (33%) Frequent (79-30%) HP:0002758
15 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
16 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
17 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
18 flat face 58 31 frequent (33%) Frequent (79-30%) HP:0012368
19 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
20 retinal detachment 58 31 frequent (33%) Frequent (79-30%) HP:0000541
21 coxa vara 58 31 frequent (33%) Frequent (79-30%) HP:0002812
22 short femoral neck 58 31 frequent (33%) Frequent (79-30%) HP:0100864
23 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
24 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
25 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
26 genu varum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002970
27 hypoplasia of the odontoid process 58 31 occasional (7.5%) Occasional (29-5%) HP:0003311
28 inguinal hernia 31 HP:0000023
29 pectus carinatum 31 HP:0000768
30 pes planus 31 HP:0001763
31 brachydactyly 31 HP:0001156
32 short stature 58 Very frequent (99-80%)
33 severe short stature 31 HP:0003510
34 hypoplastic pubic bone 31 HP:0003173
35 anterior rib cupping 31 HP:0000907
36 protuberant abdomen 31 HP:0001538
37 delayed pubic bone ossification 31 HP:0008788
38 metaphyseal irregularity 31 HP:0003025
39 narrow greater sacrosciatic notches 31 HP:0003375
40 club-shaped proximal femur 31 HP:0006406
41 c1-c2 subluxation 31 HP:0003320
42 metaphyseal dappling 31 HP:0011860

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
platyspondyly
c1-c2 subluxation
lordosis
odontoid hypoplasia

Chest External Features:
pectus carinatum

Skeletal Hands:
brachydactyly

Head And Neck Eyes:
myopia

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 Mouth:
cleft palate

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

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
Bone, Eye, Spinal Cord, T Cells, Myeloid, Bone Marrow, Heart

Publications for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Articles related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

(show top 50) (show all 139)
# Title Authors PMID Year
1
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. 54 61 56 6
7550321 1995
2
Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. 56 6
16088915 2005
3
Spondylometaphyseal dysplasia. 61 56
4199241 1973
4
Spondylometaphyseal dysplasia (Kozlowski). Report of affected mother and son. 61 56
5000428 1971
5
Type II Collagen Disorders Overview 6
31021589 2019
6
Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD). 6
8723096 1996
7
A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia. 6
8486375 1993
8
Autosomal recessive spondylometepiphyseal dysplasia, type Strudwick. 56
6702905 1984
9
Genetic heterogeneity of spondyloepiphyseal dysplasia congenita? 56
6817636 1982
10
Spondylometepiphyseal dysplasia, Strudwick type. 56
6817637 1982
11
Spondylometaepiphyseal dysplasia in a mother and her child. 56
110035 1979
12
[2 familial cases of spondylo-metaphyseal dysplasia]. 56
4987138 1970
13
[Kozlowski-Maroteaux-Spranger spondylo-metaphyseal dysostosis]. 56
4987883 1970
14
[Spondylo-metaphyseal dysostosis. 2 cases]. 56
4987884 1970
15
[Spondylo-metaphysial dysostosis (type Kozlowski-Maroteaux-Spranger)]. 56
4981286 1969
16
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. 56
4957100 1966
17
Severe neonatal spondylometaphyseal dysplasia in two siblings. 54 61
19764033 2009
18
Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. 54 61
16280719 2006
19
Spondylar dysplasia in type X collagenopathy. 54 61
11214689 2001
20
Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. 54 61
9837818 1998
21
Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition. 54 61
8361538 1993
22
A novel sequence variant in COL10A1 causing spondylometaphyseal dysplasia accompanied with coxa valga: A case report. 61
31348255 2019
23
Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant. 61
31191204 2019
24
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures". 61
30599297 2019
25
Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. 61
30779713 2019
26
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. 61
30773277 2019
27
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
28
Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCTα impair enzymatic activity and fold stability. 61
30559292 2019
29
Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia. 61
30051459 2018
30
Surgical Orthopedics in a Spondylometaphyseal Dysplastic Patient. 61
29180078 2018
31
Sperm RNA elements as markers of health. 61
29199464 2018
32
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy. 61
29122926 2018
33
Spondyloepiphyseal or spondylometaphyseal dysplasia in ancient Greek art. 61
29194044 2018
34
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. 61
28842795 2017
35
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". 61
29100092 2017
36
SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae. 61
28687525 2017
37
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum. 61
28422394 2017
38
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy. 61
28272537 2017
39
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations. 61
28123176 2017
40
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. 61
27888646 2017
41
Spondylometaphyseal dysplasia: an uncommon disease. 61
28298736 2017
42
Spondylometaphyseal Dysplasia Corner Fracture (Sutcliffe) Type. 61
27130511 2016
43
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. 61
26974433 2016
44
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). 61
26250472 2015
45
Brace treatment of thoracolumbar kyphosis in spondylometaphyseal dysplasia with restoration of vertebral morphology and sagittal profile: a case report. 61
24291408 2015
46
L596-W733 bond between the start of the S4-S5 linker and the TRP box stabilizes the closed state of TRPV4 channel. 61
25737550 2015
47
Spondylometaphyseal dysplasia with developmental cataract: first report of the association in two sibling pairs. 61
25798709 2015
48
Bilateral rhegmatogenous retinal detachment in spondyloepimetaphyseal dysplasia-Strudwick type. 61
25383842 2015
49
An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. 61
25348816 2015
50
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. 61
25178427 2015

Variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type:

6 (show top 50) (show all 88) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)SNV Pathogenic 195148 rs794727261 12:48393736-48393736 12:47999953-47999953
2 COL2A1 NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg)SNV Pathogenic 17363 rs121912871 12:48383552-48383552 12:47989769-47989769
3 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)SNV Pathogenic 17366 rs121912874 12:48372112-48372112 12:47978329-47978329
4 COL2A1 NM_001844.5(COL2A1):c.2725G>T (p.Gly909Cys)SNV Pathogenic 17367 rs121912875 12:48373302-48373302 12:47979519-47979519
5 COL2A1 NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys)SNV Pathogenic 17377 rs121912880 12:48380136-48380136 12:47986353-47986353
6 COL2A1 NM_001844.5(COL2A1):c.1475G>T (p.Gly492Val)SNV Pathogenic 17378 rs121912881 12:48380171-48380171 12:47986388-47986388
7 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)SNV Pathogenic 17395 rs121912893 12:48377504-48377504 12:47983721-47983721
8 COL2A1 NM_001844.5(COL2A1):c.2974A>G (p.Arg992Gly)SNV Pathogenic 17397 rs121912895 12:48372103-48372103 12:47978320-47978320
9 FN1 NM_212482.3(FN1):c.778T>G (p.Cys260Gly)SNV Likely pathogenic 424647 rs1553658926 2:216292969-216292969 2:215428246-215428246
10 FN1 NM_212482.3(FN1):c.718T>G (p.Tyr240Asp)SNV Likely pathogenic 424646 rs1553659131 2:216293029-216293029 2:215428306-215428306
11 FN1 NM_212482.3(FN1):c.675C>G (p.Cys225Trp)SNV Likely pathogenic 424645 rs1181638652 2:216295448-216295448 2:215430725-215430725
12 FN1 NM_212482.3(FN1):c.367T>C (p.Cys123Arg)SNV Likely pathogenic 424644 rs1553667072 2:216298095-216298095 2:215433372-215433372
13 FN1 NM_212482.3(FN1):c.260G>T (p.Cys87Phe)SNV Likely pathogenic 424643 rs1553669703 2:216299436-216299436 2:215434713-215434713
14 FN1 NM_212482.3(FN1):c.638G>A (p.Cys213Tyr)SNV Likely pathogenic 549707 rs1559604072 2:216295485-216295485 2:215430762-215430762
15 FN1 NM_212482.3(FN1):c.506G>A (p.Cys169Tyr)SNV Likely pathogenic 549709 rs1559609410 2:216296597-216296597 2:215431874-215431874
16 FN1 NM_212482.3(FN1):c.368G>A (p.Cys123Tyr)SNV Likely pathogenic 549708 rs1559616744 2:216298094-216298094 2:215433371-215433371
17 FN1 NM_212482.3(FN1):c.693C>G (p.Cys231Trp)SNV Likely pathogenic 421465 rs1064795155 2:216293054-216293054 2:215428331-215428331
18 TRPV4 NM_021625.4(TRPV4):c.205A>C (p.Met69Leu)SNV Conflicting interpretations of pathogenicity 307143 rs200199102 12:110252397-110252397 12:109814592-109814592
19 COL2A1 NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)SNV Conflicting interpretations of pathogenicity 308931 rs142770543 12:48388220-48388220 12:47994437-47994437
20 TRPV4 NM_021625.4(TRPV4):c.769C>G (p.Leu257Val)SNV Conflicting interpretations of pathogenicity 215921 rs56217500 12:110238507-110238507 12:109800702-109800702
21 TRPV4 NM_021625.4(TRPV4):c.402C>A (p.Ser134Arg)SNV Conflicting interpretations of pathogenicity 246556 rs201241092 12:110246258-110246258 12:109808453-109808453
22 TRPV4 NM_021625.4(TRPV4):c.1491+10C>TSNV Conflicting interpretations of pathogenicity 282949 rs201815805 12:110232124-110232124 12:109794319-109794319
23 TRPV4 NM_021625.4(TRPV4):c.1390C>T (p.Arg464Cys)SNV Uncertain significance 246534 rs373049874 12:110232235-110232235 12:109794430-109794430
24 TRPV4 NM_021625.4(TRPV4):c.2605G>A (p.Ala869Thr)SNV Uncertain significance 216733 rs138396764 12:110221437-110221437 12:109783632-109783632
25 TRPV4 NM_021625.4(TRPV4):c.1352C>T (p.Ala451Val)SNV Uncertain significance 307131 rs886048940 12:110232273-110232273 12:109794468-109794468
26 TRPV4 NM_021625.4(TRPV4):c.1211G>A (p.Arg404His)SNV Uncertain significance 307132 rs377257364 12:110234451-110234451 12:109796646-109796646
27 TRPV4 NM_021625.4(TRPV4):c.*212G>ASNV Uncertain significance 307118 rs886048938 12:110221214-110221214 12:109783409-109783409
28 TRPV4 NM_021625.4(TRPV4):c.*99C>TSNV Uncertain significance 307119 rs552478250 12:110221327-110221327 12:109783522-109783522
29 TRPV4 NM_021625.4(TRPV4):c.*51G>ASNV Uncertain significance 307120 rs886048939 12:110221375-110221375 12:109783570-109783570
30 TRPV4 NM_021625.4(TRPV4):c.1796C>G (p.Thr599Arg)SNV Uncertain significance 307127 rs769225216 12:110230485-110230485 12:109792680-109792680
31 TRPV4 NM_021625.4(TRPV4):c.1601T>C (p.Met534Thr)SNV Uncertain significance 307128 rs775011025 12:110231389-110231389 12:109793584-109793584
32 FN1 NM_212482.3(FN1):c.773G>A (p.Cys258Tyr)SNV Uncertain significance 450072 rs1553658948 2:216292974-216292974 2:215428251-215428251
33 COL2A1 NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val)SNV Uncertain significance 547841 rs886042009 12:48374344-48374344 12:47980561-47980561
34 TRPV4 NM_021625.4(TRPV4):c.622G>A (p.Asp208Asn)SNV Uncertain significance 307139 rs769445973 12:110240886-110240886 12:109803081-109803081
35 TRPV4 NM_021625.4(TRPV4):c.-74G>ASNV Uncertain significance 307145 rs886048942 12:110271197-110271197 12:109833392-109833392
36 TRPV4 NM_021625.4(TRPV4):c.171T>C (p.Pro57=)SNV Uncertain significance 307144 rs886048941 12:110252431-110252431 12:109814626-109814626
37 TRPV4 NM_021625.4(TRPV4):c.2236C>G (p.Arg746Gly)SNV Uncertain significance 307123 rs375189134 12:110224615-110224615 12:109786810-109786810
38 TRPV4 NM_021625.4(TRPV4):c.963C>A (p.Gly321=)SNV Uncertain significance 307134 rs148534854 12:110236608-110236608 12:109798803-109798803
39 TRPV4 NM_021625.4(TRPV4):c.*405G>ASNV Uncertain significance 307114 rs886048937 12:110221021-110221021 12:109783216-109783216
40 FN1 NM_212482.3(FN1):c.2422_2424ACA[1] (p.Thr809del)short repeat Uncertain significance 424648 rs1553636502 2:216273022-216273024 2:215408299-215408301
41 TRPV4 NM_021625.4(TRPV4):c.1825-15C>GSNV Likely benign 307126 rs200602134 12:110230249-110230249 12:109792444-109792444
42 TRPV4 NM_021625.4(TRPV4):c.1455C>T (p.Phe485=)SNV Likely benign 307130 rs189872222 12:110232170-110232170 12:109794365-109794365
43 TRPV4 NM_021625.4(TRPV4):c.650C>T (p.Ala217Val)SNV Likely benign 307138 rs548909101 12:110240858-110240858 12:109803053-109803053
44 TRPV4 NM_021625.4(TRPV4):c.427C>A (p.Pro143Thr)SNV Likely benign 307142 rs201642486 12:110246233-110246233 12:109808428-109808428
45 TRPV4 NM_021625.4(TRPV4):c.936G>A (p.Ala312=)SNV Likely benign 307135 rs202084699 12:110236635-110236635 12:109798830-109798830
46 TRPV4 NM_021625.4(TRPV4):c.1825-15C>TSNV Likely benign 307125 rs200602134 12:110230249-110230249 12:109792444-109792444
47 TRPV4 NR_039718.1(MIR4497):n.66C>TSNV Likely benign 368980 rs56079803 12:110271218-110271218 12:109833413-109833413
48 TRPV4 NM_021625.4(TRPV4):c.*423G>ASNV Likely benign 307113 rs151286044 12:110221003-110221003 12:109783198-109783198
49 TRPV4 NM_021625.4(TRPV4):c.1584+13C>TSNV Likely benign 307129 rs199712027 12:110231722-110231722 12:109793917-109793917
50 TRPV4 NM_021625.4(TRPV4):c.1093G>A (p.Val365Met)SNV Likely benign 307133 rs570675468 12:110236478-110236478 12:109798673-109798673

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 CREB3L3 CREB3L1 COL2A1
2
Show member pathways
11.5 CREB3L3 CREB3L1
3 11.45 CREB3L3 CREB3L1
4
Show member pathways
11.41 CREB3L3 CREB3L1
5 11.35 CREB3L3 CREB3L1
6 11.28 CREB3L3 CREB3L1
7 10.77 COL2A1 COL10A1
8 10.27 CREB3L3 CREB3L1
9 10.23 SEMA3A COL2A1 COL10A1

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 9.26 SEMA3A INA COL2A1 COL10A1
2 collagen trimer GO:0005581 8.62 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 9.16 CREB3L3 CREB3L1
2 endoplasmic reticulum unfolded protein response GO:0030968 8.96 CREB3L3 CREB3L1
3 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 GO:0005201 9.16 COL2A1 COL10A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL2A1 COL10A1
3 cAMP response element binding GO:0035497 8.62 CREB3L3 CREB3L1

Sources for Spondyloepimetaphyseal Dysplasia, Strudwick Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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