SEMDSTWK
MCID: SPN028
MIFTS: 53

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 76 25 75 15
Spondylometaphyseal Dysplasia 57 76 25 75 37 29 55 6
Strudwick Syndrome 57 76 53 25 75 73
Dappled Metaphysis Syndrome 57 53 25 75
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type 57 25 75
Semd, Strudwick Type 57 25 75
Smed, Strudwick Type 57 25 75
Smed Strudwick Type 57 53 13
Smd 57 53 75
Smed, Type I 57 25
Smed Type 1 53 75
Semdstwk 57 75
Semdc 57 75
Spondyloepiphyseal Dysplasia Congenita with Dappled Metaphyses 75
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type 59
Dysplasia, Spondyloepimetaphyseal, Strudwick Type 40
Spondyloepimetaphyseal Dysplasia Strudwick Type 53
Spondylometaphyseal Dysplasia; Smd 57
Dysplasia, Spondylometaphyseal 40
Sed Strudwick 25
Smed Type I 75

Characteristics:

Orphanet epidemiological data:

59
spondyloepimetaphyseal dysplasia congenita, strudwick type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
spondyloepimetaphyseal dysplasia, strudwick type:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Spondyloepimetaphyseal Dysplasia, Strudwick Type

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93346Disease definitionSpondyloepimetaphyseal 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).EpidemiologyThe syndrome has been described in less than 30 patients so far.Clinical descriptionCleft palate and eye abnormalities (severe myopia and retinal detachment) are frequently associated. Arthritis may develop early in life.EtiologyThis condition is caused by mutations in the COL2A1 gene (12q13.11-q13.2).Genetic counselingIt is inherited in an autosomal dominant manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Strudwick Type, also known as spondylometaphyseal dysplasia, is related to spondylometaphyseal dysplasia, corner fracture type and spondyloepimetaphyseal dysplasia, matrilin-3 related. 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 Integrin Pathway. Affiliated tissues include bone, eye and t cells, and related phenotypes are hypertelorism and osteoarthritis

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).

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.

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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 53)
# Related Disease Score Top Affiliating Genes
1 spondylometaphyseal dysplasia, corner fracture type 34.0 FN1 COL2A1
2 spondyloepimetaphyseal dysplasia, matrilin-3 related 30.9 SEMA3A COL2A1
3 coxa vara 30.2 COL2A1 COL10A1
4 spondylometaphyseal dysplasia, kozlowski type 12.7
5 spondylometaphyseal dysplasia with cone-rod dystrophy 12.7
6 spondylometaphyseal dysplasia, megarbane-dagher-melki type 12.5
7 spondylometaphyseal dysplasia, algerian type 12.4
8 spondylometaphyseal dysplasia, type a4 12.3
9 spondylometaphyseal dysplasia, east african type 12.3
10 spondylometaphyseal dysplasia, x-linked 12.3
11 spondylometaphyseal dysplasia with dentinogenesis imperfecta 12.2
12 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism 12.2
13 spondylometaphyseal dysplasia, czarny-ratajczak type 12.1
14 metaphyseal chondrodysplasia, schmid type 11.8
15 spondylometaphyseal dysplasia, sedaghatian type 11.4
16 spondylometaphyseal dysplasia, axial 11.4
17 spondyloenchondrodysplasia with immune dysregulation 11.3
18 pelger-huet anomaly with mild skeletal anomalies 11.3
19 brachyolmia type 3 11.2
20 opsismodysplasia 11.2
21 spondyloenchondrodysplasia 11.1
22 stereotypic movement disorder 11.1
23 cone-rod dystrophy 2 10.4
24 retinal detachment 10.3
25 dysspondyloenchondromatosis 10.3
26 systemic lupus erythematosus 10.1
27 lupus erythematosus 10.1
28 cardiac arrhythmia 10.0
29 metatropic dysplasia 10.0
30 tetralogy of fallot 10.0
31 cerebellar hypoplasia 10.0
32 retinitis pigmentosa 10.0
33 leber congenital amaurosis 4 10.0
34 cataract 10.0
35 scoliosis 10.0
36 rickets 10.0
37 corneal dystrophy 10.0
38 retinitis 10.0
39 combined t cell and b cell immunodeficiency 10.0
40 fundus dystrophy 10.0
41 pachygyria 10.0
42 achondrogenesis, type ii 10.0 SEMA3A COL2A1
43 attention deficit-hyperactivity disorder 10.0
44 platelet membrane fluidity 10.0
45 aplastic anemia 10.0
46 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
47 hypochondrogenesis 9.9 SEMA3A COL2A1
48 kniest dysplasia 9.9 SEMA3A COL2A1
49 cartilage disease 9.9 COL2A1 COL10A1
50 pyle disease 9.8 COL2A1 COL10A1

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
platyspondyly
lordosis
odontoid hypoplasia
c1-c2 subluxation

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

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
3 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
4 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
5 gait disturbance 59 32 hallmark (90%) Frequent (79-30%) HP:0001288
6 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
7 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
8 hyperlordosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003307
9 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
10 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
11 platyspondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000926
12 respiratory distress 59 32 occasional (7.5%) Occasional (29-5%) HP:0002098
13 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
14 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
15 flat face 59 32 frequent (33%) Frequent (79-30%) HP:0012368
16 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
17 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
18 retinal detachment 59 32 frequent (33%) Frequent (79-30%) HP:0000541
19 genu varum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002970
20 coxa vara 59 32 frequent (33%) Frequent (79-30%) HP:0002812
21 abnormality of the sternum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000766
22 hypoplasia of the odontoid process 59 32 occasional (7.5%) Occasional (29-5%) HP:0003311
23 disproportionate short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003498
24 short femoral neck 59 32 frequent (33%) Frequent (79-30%) HP:0100864
25 spondyloepimetaphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002651
26 inguinal hernia 32 HP:0000023
27 hip dysplasia 32 hallmark (90%) HP:0001385
28 pectus carinatum 32 HP:0000768
29 pes planus 32 HP:0001763
30 rhizomelia 32 hallmark (90%) HP:0008905
31 brachydactyly 32 HP:0001156
32 severe short stature 32 HP:0003510
33 hypoplastic pubic bone 32 HP:0003173
34 anterior rib cupping 32 HP:0000907
35 protuberant abdomen 32 HP:0001538
36 delayed pubic bone ossification 32 HP:0008788
37 metaphyseal irregularity 32 HP:0003025
38 c1-c2 subluxation 32 HP:0003320
39 club-shaped proximal femur 32 HP:0006406
40 narrow greater sacrosciatic notches 32 HP:0003375
41 metaphyseal dappling 32 HP:0011860

MGI Mouse Phenotypes related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.71 COL10A1 COL2A1 FN1 SEMA3A
2 growth/size/body region MP:0005378 9.62 COL10A1 COL2A1 FN1 SEMA3A
3 immune system MP:0005387 9.56 COL10A1 COL2A1 FN1 SEMA3A
4 craniofacial MP:0005382 9.54 COL10A1 COL2A1 FN1
5 limbs/digits/tail MP:0005371 9.33 COL10A1 COL2A1 FN1
6 nervous system MP:0003631 9.26 COL10A1 COL2A1 FN1 SEMA3A
7 skeleton MP:0005390 8.92 COL10A1 COL2A1 FN1 SEMA3A

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:

41
Bone, Eye, T Cells, B Cells, Bone Marrow

Publications for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Articles related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

(show top 50) (show all 81)
# Title Authors Year
1
Defect in phosphoinositide signalling through a homozygous variant in<i>PLCB3</i>causes a new form of spondylometaphyseal dysplasia with corneal dystrophy. ( 29122926 )
2018
2
Spondyloepiphyseal or spondylometaphyseal dysplasia in ancient Greek art. ( 29194044 )
2018
3
Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia. ( 30051459 )
2018
4
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations. ( 28123176 )
2017
5
Spondylometaphyseal dysplasia: an uncommon disease. ( 28298736 )
2017
6
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. ( 28842795 )
2017
7
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". ( 29100092 )
2017
8
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. ( 26974433 )
2016
9
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. ( 27888646 )
2016
10
Spondylometaphyseal Dysplasia Corner Fracture (Sutcliffe) Type. ( 27130511 )
2016
11
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). ( 26250472 )
2015
12
Brace treatment of thoracolumbar kyphosis in spondylometaphyseal dysplasia with restoration of vertebral morphology and sagittal profile: a case report. ( 24291408 )
2015
13
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. ( 25348816 )
2015
14
Spondylometaphyseal dysplasia with developmental cataract: first report of the association in two sibling pairs. ( 25798709 )
2015
15
Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy. ( 24387991 )
2014
16
Novel mutations in PCYT1A are responsible for spondylometaphyseal dysplasia with cone-rod dystrophy. ( 24476460 )
2014
17
BILATERAL RHEGMATOGENOUS RETINAL DETACHMENT IN SPONDYLOEPIMETAPHYSEAL DYSPLASIA-STRUDWICK TYPE. ( 25383842 )
2014
18
Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy. ( 24387990 )
2014
19
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian- type spondylometaphyseal dysplasia. ( 24706940 )
2014
20
A second family with autosomal recessive spondylometaphyseal dysplasia and early death. ( 24458487 )
2014
21
COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type. ( 23653587 )
2013
22
Axial spondylometaphyseal dysplasia with retinitis pigmentosa--a clinical report and diagnostic clues. ( 23371363 )
2013
23
Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: a clinical report and review of the literature. ( 22529034 )
2012
24
Spondylometaphyseal dysplasia with cone-rod dystrophy. ( 21412974 )
2011
25
Axial spondylometaphyseal dysplasia: additional reports. ( 21910225 )
2011
26
Spondylometaphyseal dysplasia with cone-rod dystrophy. ( 20141353 )
2010
27
Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy. ( 20503334 )
2010
28
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. ( 19232556 )
2009
29
Severe neonatal spondylometaphyseal dysplasia in two siblings. ( 19764033 )
2009
30
Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy. ( 19012331 )
2008
31
Spondylometaphyseal dysplasia-Sedaghatian type associated with intra-partum cardiac arrhythmia and neonatal death. ( 18097914 )
2007
32
A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: comment on &amp;quot;A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia&amp;quot; by M.L. Kulkarni, K. Baskar, and P.M. Kulkarni [2006]. ( 17497723 )
2007
33
A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia. ( 17163538 )
2007
34
Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum. ( 16892303 )
2006
35
Kozlowski type spondylometaphyseal dysplasia: a case report with literature review. ( 16752352 )
2006
36
Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. ( 16280719 )
2006
37
A dominantly inherited spondylometaphyseal dysplasia with &amp;quot;corner fractures&amp;quot; and congenital scoliosis. ( 15666313 )
2005
38
Tetralogy of fallot in a patient with developmental coxa vara/spondylometaphyseal dysplasia-corner fracture type (DCV/SMD-CF) expanding the variability. ( 16001436 )
2005
39
Spondylometaphyseal dysplasia with cone-rod dystrophy. ( 15326626 )
2004
40
Distinctive spondylometaphyseal dysplasia in two siblings. ( 12503112 )
2003
41
A female case of Sedaghatian type spondylometaphyseal dysplasia. ( 12687672 )
2003
42
A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia. ( 12786759 )
2003
43
Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae. ( 12457408 )
2002
44
Combined spinal epidural anaesthesia for elective caesarean section in a patient with spondylometaphyseal dysplasia. ( 15321554 )
2002
45
Spondylometaphyseal dysplasia: Sedaghatian type. ( 10678656 )
2000
46
Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the &amp;quot;Japanese&amp;quot; type. ( 10929364 )
2000
47
Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrhythmia and normal intrauterine growth in three siblings. ( 10955475 )
2000
48
Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): "SMD-corner fracture type" (DCV/SMD-CF) demonstrated in most reported cases. ( 10663502 )
2000
49
Jansen type of spondylometaphyseal dysplasia. ( 10855475 )
2000
50
Spondylometaphyseal dysplasia-Sedaghatian type. ( 9556300 )
1998

Variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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

75
# 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

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type:

6 (show top 50) (show all 158)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser) single nucleotide variant Benign rs3742030 GRCh37 Chromosome 12, 110252547: 110252547
2 TRPV4 NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser) single nucleotide variant Benign rs3742030 GRCh38 Chromosome 12, 109814742: 109814742
3 COL2A1 NM_001844.4(COL2A1): c.1060G> A (p.Gly354Arg) single nucleotide variant Pathogenic rs121912871 GRCh37 Chromosome 12, 48383552: 48383552
4 COL2A1 NM_001844.4(COL2A1): c.1060G> A (p.Gly354Arg) single nucleotide variant Pathogenic rs121912871 GRCh38 Chromosome 12, 47989769: 47989769
5 COL2A1 NM_001844.4(COL2A1): c.2725G> T (p.Gly909Cys) single nucleotide variant Pathogenic rs121912875 GRCh37 Chromosome 12, 48373302: 48373302
6 COL2A1 NM_001844.4(COL2A1): c.2725G> T (p.Gly909Cys) single nucleotide variant Pathogenic rs121912875 GRCh38 Chromosome 12, 47979519: 47979519
7 COL2A1 NM_001844.4(COL2A1): c.1510G> T (p.Gly504Cys) single nucleotide variant Pathogenic rs121912880 GRCh37 Chromosome 12, 48380136: 48380136
8 COL2A1 NM_001844.4(COL2A1): c.1510G> T (p.Gly504Cys) single nucleotide variant Pathogenic rs121912880 GRCh38 Chromosome 12, 47986353: 47986353
9 COL2A1 NM_001844.4(COL2A1): c.1475G> T (p.Gly492Val) single nucleotide variant Pathogenic rs121912881 GRCh37 Chromosome 12, 48380171: 48380171
10 COL2A1 NM_001844.4(COL2A1): c.1475G> T (p.Gly492Val) single nucleotide variant Pathogenic rs121912881 GRCh38 Chromosome 12, 47986388: 47986388
11 COL2A1 NM_001844.4(COL2A1): c.2974A> G (p.Arg992Gly) single nucleotide variant Pathogenic rs121912895 GRCh37 Chromosome 12, 48372103: 48372103
12 COL2A1 NM_001844.4(COL2A1): c.2974A> G (p.Arg992Gly) single nucleotide variant Pathogenic rs121912895 GRCh38 Chromosome 12, 47978320: 47978320
13 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187864727 GRCh37 Chromosome 12, 110240859: 110240859
14 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187864727 GRCh38 Chromosome 12, 109803054: 109803054
15 TRPV4 NM_021625.4(TRPV4): c.789T> C (p.Asp263=) single nucleotide variant Benign rs3742034 GRCh37 Chromosome 12, 110238487: 110238487
16 TRPV4 NM_021625.4(TRPV4): c.789T> C (p.Asp263=) single nucleotide variant Benign rs3742034 GRCh38 Chromosome 12, 109800682: 109800682
17 TRPV4 NM_021625.4(TRPV4): c.795C> T (p.His265=) single nucleotide variant Benign rs1344554 GRCh37 Chromosome 12, 110238481: 110238481
18 TRPV4 NM_021625.4(TRPV4): c.795C> T (p.His265=) single nucleotide variant Benign rs1344554 GRCh38 Chromosome 12, 109800676: 109800676
19 TRPV4 NM_021625.4(TRPV4): c.1153-10C> T single nucleotide variant Benign/Likely benign rs149541389 GRCh37 Chromosome 12, 110234519: 110234519
20 TRPV4 NM_021625.4(TRPV4): c.1153-10C> T single nucleotide variant Benign/Likely benign rs149541389 GRCh38 Chromosome 12, 109796714: 109796714
21 TRPV4 NM_021625.4(TRPV4): c.2034C> T (p.Ile678=) single nucleotide variant Benign rs3742037 GRCh37 Chromosome 12, 110226379: 110226379
22 TRPV4 NM_021625.4(TRPV4): c.2034C> T (p.Ile678=) single nucleotide variant Benign rs3742037 GRCh38 Chromosome 12, 109788574: 109788574
23 TRPV4 NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys) single nucleotide variant Benign/Likely benign rs55728855 GRCh37 Chromosome 12, 110221524: 110221524
24 TRPV4 NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys) single nucleotide variant Benign/Likely benign rs55728855 GRCh38 Chromosome 12, 109783719: 109783719
25 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh37 Chromosome 12, 110230597: 110230597
26 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh38 Chromosome 12, 109792792: 109792792
27 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh37 Chromosome 12, 110252569: 110252569
28 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh38 Chromosome 12, 109814764: 109814764
29 COL2A1 NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser) single nucleotide variant Pathogenic rs121912880 GRCh37 Chromosome 12, 48380136: 48380136
30 COL2A1 NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser) single nucleotide variant Pathogenic rs121912880 GRCh38 Chromosome 12, 47986353: 47986353
31 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs371733585 GRCh37 Chromosome 12, 110236721: 110236721
32 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs371733585 GRCh38 Chromosome 12, 109798916: 109798916
33 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh38 Chromosome 12, 109783632: 109783632
34 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh37 Chromosome 12, 110221437: 110221437
35 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh38 Chromosome 12, 109783739: 109783739
36 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh37 Chromosome 12, 110221544: 110221544
37 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh38 Chromosome 12, 109786798: 109786798
38 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh37 Chromosome 12, 110224603: 110224603
39 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh38 Chromosome 12, 109793968: 109793968
40 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh37 Chromosome 12, 110231773: 110231773
41 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh38 Chromosome 12, 109796549: 109796549
42 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh37 Chromosome 12, 110234354: 110234354
43 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh38 Chromosome 12, 109800702: 109800702
44 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh37 Chromosome 12, 110238507: 110238507
45 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Benign/Likely benign rs115657305 GRCh38 Chromosome 12, 109802981: 109802981
46 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Benign/Likely benign rs115657305 GRCh37 Chromosome 12, 110240786: 110240786
47 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 GRCh37 Chromosome 12, 110252450: 110252450
48 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 GRCh38 Chromosome 12, 109814645: 109814645
49 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 GRCh38 Chromosome 12, 109784341: 109784341
50 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 GRCh37 Chromosome 12, 110222146: 110222146

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 region GO:0005576 9.62 COL10A1 COL2A1 FN1 SEMA3A
2 extracellular space GO:0005615 9.56 COL10A1 COL2A1 FN1 SEMA3A
3 basement membrane GO:0005604 9.4 COL2A1 FN1
4 collagen trimer GO:0005581 9.37 COL10A1 COL2A1
5 extracellular matrix GO:0031012 9.33 COL10A1 COL2A1 FN1
6 endoplasmic reticulum lumen GO:0005788 9.13 COL10A1 COL2A1 FN1
7 collagen-containing extracellular matrix GO:0062023 8.8 COL10A1 COL2A1 FN1

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.16 COL10A1 COL2A1
2 extracellular matrix organization GO:0030198 9.13 COL10A1 COL2A1 FN1
3 neural crest cell migration involved in autonomic nervous system development GO:1901166 8.62 FN1 SEMA3A

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 8.96 COL10A1 COL2A1
2 extracellular matrix structural constituent GO:0005201 8.8 COL10A1 COL2A1 FN1

Sources for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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