SEMDSTWK
MCID: SPN028
MIFTS: 47

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 58 12 77 26 76 15
Spondylometaphyseal Dysplasia 58 77 26 76 38 30 56 6
Strudwick Syndrome 58 77 54 26 76 74
Dappled Metaphysis Syndrome 58 54 26 76
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type 58 26 76
Semd, Strudwick Type 58 26 76
Smed, Strudwick Type 58 26 76
Smed Strudwick Type 58 54 13
Smd 58 54 76
Smed, Type I 58 26
Smed Type 1 54 76
Semdstwk 58 76
Semdc 58 76
Spondyloepiphyseal Dysplasia Congenita with Dappled Metaphyses 76
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type 60
Dysplasia, Spondyloepimetaphyseal, Strudwick Type 41
Spondyloepimetaphyseal Dysplasia Strudwick Type 54
Spondylometaphyseal Dysplasia; Smd 58
Dysplasia, Spondylometaphyseal 41
Sed Strudwick 26
Smed Type I 76

Characteristics:

Orphanet epidemiological data:

60
spondyloepimetaphyseal dysplasia congenita, strudwick type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
spondyloepimetaphyseal dysplasia, strudwick type:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Spondyloepimetaphyseal Dysplasia, Strudwick Type

NIH Rare Diseases : 54 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 spondyloepimetaphyseal dysplasia, matrilin-3 related 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 Phospholipase-C Pathway and Degradation of the extracellular matrix. Affiliated tissues include bone, eye and t cells, 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).

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 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 58)
# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia, matrilin-3 related 30.8 COL2A1 SEMA3A
2 coxa vara 30.0 COL10A1 COL2A1
3 spondylometaphyseal dysplasia, corner fracture type 12.8
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 12.5
8 spondylometaphyseal dysplasia, type a4 12.4
9 spondylometaphyseal dysplasia, east african type 12.3
10 spondylometaphyseal dysplasia, x-linked 12.3
11 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism 12.2
12 spondylometaphyseal dysplasia, czarny-ratajczak type 12.1
13 metaphyseal chondrodysplasia, schmid type 12.0
14 spondyloenchondrodysplasia with immune dysregulation 11.7
15 pelger-huet anomaly with mild skeletal anomalies 11.7
16 spondyloenchondrodysplasia 11.5
17 spondylometaphyseal dysplasia, sedaghatian type 11.5
18 spondylometaphyseal dysplasia, axial 11.4
19 odontochondrodysplasia 11.4
20 brachyolmia type 3 11.2
21 opsismodysplasia 11.2
22 stereotypic movement disorder 11.1
23 cone-rod dystrophy 2 10.4
24 retinal detachment 10.4
25 dysspondyloenchondromatosis 10.4
26 cystic fibrosis 10.2
27 systemic lupus erythematosus 10.1
28 lupus erythematosus 10.1
29 cardiac arrhythmia 10.0
30 metatropic dysplasia 10.0
31 parastremmatic dwarfism 10.0
32 spondyloepiphyseal dysplasia, maroteaux type 10.0
33 tetralogy of fallot 10.0
34 cerebellar hypoplasia 10.0
35 short-rib thoracic dysplasia 6 with or without polydactyly 10.0
36 retinitis pigmentosa 10.0
37 leber congenital amaurosis 4 10.0
38 cataract 10.0
39 scoliosis 10.0
40 rickets 10.0
41 corneal dystrophy 10.0
42 retinitis 10.0
43 combined t cell and b cell immunodeficiency 10.0
44 fundus dystrophy 10.0
45 pachygyria 10.0
46 attention deficit-hyperactivity disorder 10.0
47 platelet membrane fluidity 10.0
48 aplastic anemia 10.0
49 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
50 pol iii-related leukodystrophies 10.0

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:

60 33 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005930
2 gait disturbance 60 33 hallmark (90%) Frequent (79-30%) HP:0001288
3 hyperlordosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0003307
4 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
5 platyspondyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000926
6 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
7 short thorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0010306
8 abnormality of the sternum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000766
9 disproportionate short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003498
10 spondyloepimetaphyseal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002651
11 hip dysplasia 33 hallmark (90%) HP:0001385
12 rhizomelia 33 hallmark (90%) HP:0008905
13 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
14 osteoarthritis 60 33 frequent (33%) Frequent (79-30%) HP:0002758
15 genu valgum 60 33 frequent (33%) Frequent (79-30%) HP:0002857
16 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
17 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
18 flat face 60 33 frequent (33%) Frequent (79-30%) HP:0012368
19 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
20 retinal detachment 60 33 frequent (33%) Frequent (79-30%) HP:0000541
21 coxa vara 60 33 frequent (33%) Frequent (79-30%) HP:0002812
22 short femoral neck 60 33 frequent (33%) Frequent (79-30%) HP:0100864
23 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
24 respiratory distress 60 33 occasional (7.5%) Occasional (29-5%) HP:0002098
25 talipes equinovarus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001762
26 genu varum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002970
27 hypoplasia of the odontoid process 60 33 occasional (7.5%) Occasional (29-5%) HP:0003311
28 inguinal hernia 33 HP:0000023
29 pectus carinatum 33 HP:0000768
30 pes planus 33 HP:0001763
31 brachydactyly 33 HP:0001156
32 severe short stature 33 HP:0003510
33 hypoplastic pubic bone 33 HP:0003173
34 anterior rib cupping 33 HP:0000907
35 protuberant abdomen 33 HP:0001538
36 delayed pubic bone ossification 33 HP:0008788
37 metaphyseal irregularity 33 HP:0003025
38 c1-c2 subluxation 33 HP:0003320
39 club-shaped proximal femur 33 HP:0006406
40 narrow greater sacrosciatic notches 33 HP:0003375
41 metaphyseal dappling 33 HP:0011860

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 8.8 COL10A1 COL2A1 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 30 COL2A1

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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

42
Bone, Eye, T Cells, B Cells

Publications for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Articles related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

(show top 50) (show all 85)
# Title Authors Year
1
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 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
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures". ( 30599297 )
2018
5
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. ( 27888646 )
2017
6
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations. ( 28123176 )
2017
7
Spondylometaphyseal dysplasia: an uncommon disease. ( 28298736 )
2017
8
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. ( 28842795 )
2017
9
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". ( 29100092 )
2017
10
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. ( 26974433 )
2016
11
Spondylometaphyseal Dysplasia Corner Fracture (Sutcliffe) Type. ( 27130511 )
2016
12
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). ( 26250472 )
2015
13
Bilateral rhegmatogenous retinal detachment in spondyloepimetaphyseal dysplasia-Strudwick type. ( 25383842 )
2015
14
Brace treatment of thoracolumbar kyphosis in spondylometaphyseal dysplasia with restoration of vertebral morphology and sagittal profile: a case report. ( 24291408 )
2015
15
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
16
Spondylometaphyseal dysplasia with developmental cataract: first report of the association in two sibling pairs. ( 25798709 )
2015
17
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. ( 24387990 )
2014
18
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. ( 24387991 )
2014
19
Novel mutations in PCYT1A are responsible for spondylometaphyseal dysplasia with cone-rod dystrophy. ( 24476460 )
2014
20
A second family with autosomal recessive spondylometaphyseal dysplasia and early death. ( 24458487 )
2014
21
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. ( 24706940 )
2014
22
Axial spondylometaphyseal dysplasia with retinitis pigmentosa--a clinical report and diagnostic clues. ( 23371363 )
2013
23
COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type. ( 23653587 )
2013
24
Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: a clinical report and review of the literature. ( 22529034 )
2012
25
Spondylometaphyseal dysplasia with cone-rod dystrophy. ( 21412974 )
2011
26
Axial spondylometaphyseal dysplasia: additional reports. ( 21910225 )
2011
27
Spondylometaphyseal dysplasia with cone-rod dystrophy. ( 20141353 )
2010
28
Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy. ( 20503334 )
2010
29
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. ( 19232556 )
2009
30
Severe neonatal spondylometaphyseal dysplasia in two siblings. ( 19764033 )
2009
31
Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy. ( 19012331 )
2008
32
Spondylometaphyseal dysplasia-Sedaghatian type associated with intra-partum cardiac arrhythmia and neonatal death. ( 18097914 )
2007
33
A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: comment on "A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia" by M.L. Kulkarni, K. Baskar, and P.M. Kulkarni [2006]. ( 17497723 )
2007
34
A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia. ( 17163538 )
2007
35
Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum. ( 16892303 )
2006
36
Kozlowski type spondylometaphyseal dysplasia: a case report with literature review. ( 16752352 )
2006
37
Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. ( 16280719 )
2006
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
A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis. ( 15666313 )
2005
40
Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. ( 16088915 )
2005
41
Spondylometaphyseal dysplasia with cone-rod dystrophy. ( 15326626 )
2004
42
Distinctive spondylometaphyseal dysplasia in two siblings. ( 12503112 )
2003
43
A female case of Sedaghatian type spondylometaphyseal dysplasia. ( 12687672 )
2003
44
A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia. ( 12786759 )
2003
45
Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae. ( 12457408 )
2002
46
Combined spinal epidural anaesthesia for elective caesarean section in a patient with spondylometaphyseal dysplasia. ( 15321554 )
2002
47
Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): "SMD-corner fracture type" (DCV/SMD-CF) demonstrated in most reported cases. ( 10663502 )
2000
48
Spondylometaphyseal dysplasia: Sedaghatian type. ( 10678656 )
2000
49
Jansen type of spondylometaphyseal dysplasia. ( 10855475 )
2000
50
Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type. ( 10929364 )
2000

Variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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

76
# 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 176)
# 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.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 GRCh37 Chromosome 12, 48372112: 48372112
6 COL2A1 NM_001844.4(COL2A1): c.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 GRCh38 Chromosome 12, 47978329: 47978329
7 COL2A1 NM_001844.4(COL2A1): c.2725G> T (p.Gly909Cys) single nucleotide variant Pathogenic rs121912875 GRCh37 Chromosome 12, 48373302: 48373302
8 COL2A1 NM_001844.4(COL2A1): c.2725G> T (p.Gly909Cys) single nucleotide variant Pathogenic rs121912875 GRCh38 Chromosome 12, 47979519: 47979519
9 COL2A1 NM_001844.4(COL2A1): c.1510G> T (p.Gly504Cys) single nucleotide variant Pathogenic rs121912880 GRCh37 Chromosome 12, 48380136: 48380136
10 COL2A1 NM_001844.4(COL2A1): c.1510G> T (p.Gly504Cys) single nucleotide variant Pathogenic rs121912880 GRCh38 Chromosome 12, 47986353: 47986353
11 COL2A1 NM_001844.4(COL2A1): c.1475G> T (p.Gly492Val) single nucleotide variant Pathogenic rs121912881 GRCh37 Chromosome 12, 48380171: 48380171
12 COL2A1 NM_001844.4(COL2A1): c.1475G> T (p.Gly492Val) single nucleotide variant Pathogenic rs121912881 GRCh38 Chromosome 12, 47986388: 47986388
13 COL2A1 NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 GRCh37 Chromosome 12, 48377504: 48377504
14 COL2A1 NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 GRCh38 Chromosome 12, 47983721: 47983721
15 COL2A1 NM_001844.4(COL2A1): c.2974A> G (p.Arg992Gly) single nucleotide variant Pathogenic rs121912895 GRCh37 Chromosome 12, 48372103: 48372103
16 COL2A1 NM_001844.4(COL2A1): c.2974A> G (p.Arg992Gly) single nucleotide variant Pathogenic rs121912895 GRCh38 Chromosome 12, 47978320: 47978320
17 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187864727 GRCh37 Chromosome 12, 110240859: 110240859
18 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187864727 GRCh38 Chromosome 12, 109803054: 109803054
19 TRPV4 NM_021625.4(TRPV4): c.789T> C (p.Asp263=) single nucleotide variant Benign rs3742034 GRCh37 Chromosome 12, 110238487: 110238487
20 TRPV4 NM_021625.4(TRPV4): c.789T> C (p.Asp263=) single nucleotide variant Benign rs3742034 GRCh38 Chromosome 12, 109800682: 109800682
21 TRPV4 NM_021625.4(TRPV4): c.795C> T (p.His265=) single nucleotide variant Benign rs1344554 GRCh37 Chromosome 12, 110238481: 110238481
22 TRPV4 NM_021625.4(TRPV4): c.795C> T (p.His265=) single nucleotide variant Benign rs1344554 GRCh38 Chromosome 12, 109800676: 109800676
23 TRPV4 NM_021625.4(TRPV4): c.1153-10C> T single nucleotide variant Benign/Likely benign rs149541389 GRCh37 Chromosome 12, 110234519: 110234519
24 TRPV4 NM_021625.4(TRPV4): c.1153-10C> T single nucleotide variant Benign/Likely benign rs149541389 GRCh38 Chromosome 12, 109796714: 109796714
25 TRPV4 NM_021625.4(TRPV4): c.2034C> T (p.Ile678=) single nucleotide variant Benign rs3742037 GRCh37 Chromosome 12, 110226379: 110226379
26 TRPV4 NM_021625.4(TRPV4): c.2034C> T (p.Ile678=) single nucleotide variant Benign rs3742037 GRCh38 Chromosome 12, 109788574: 109788574
27 TRPV4 NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys) single nucleotide variant Benign/Likely benign rs55728855 GRCh37 Chromosome 12, 110221524: 110221524
28 TRPV4 NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys) single nucleotide variant Benign/Likely benign rs55728855 GRCh38 Chromosome 12, 109783719: 109783719
29 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh37 Chromosome 12, 110230597: 110230597
30 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh38 Chromosome 12, 109792792: 109792792
31 COL2A1 NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter) single nucleotide variant Pathogenic rs794727261 GRCh37 Chromosome 12, 48393736: 48393736
32 COL2A1 NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter) single nucleotide variant Pathogenic rs794727261 GRCh38 Chromosome 12, 47999953: 47999953
33 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh37 Chromosome 12, 110252569: 110252569
34 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh38 Chromosome 12, 109814764: 109814764
35 COL2A1 NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser) single nucleotide variant Pathogenic rs121912880 GRCh37 Chromosome 12, 48380136: 48380136
36 COL2A1 NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser) single nucleotide variant Pathogenic rs121912880 GRCh38 Chromosome 12, 47986353: 47986353
37 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Benign/Likely benign rs371733585 GRCh37 Chromosome 12, 110236721: 110236721
38 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Benign/Likely benign rs371733585 GRCh38 Chromosome 12, 109798916: 109798916
39 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh38 Chromosome 12, 109783632: 109783632
40 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh37 Chromosome 12, 110221437: 110221437
41 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh38 Chromosome 12, 109783739: 109783739
42 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh37 Chromosome 12, 110221544: 110221544
43 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh38 Chromosome 12, 109786798: 109786798
44 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh37 Chromosome 12, 110224603: 110224603
45 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh38 Chromosome 12, 109793968: 109793968
46 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh37 Chromosome 12, 110231773: 110231773
47 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh38 Chromosome 12, 109796549: 109796549
48 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh37 Chromosome 12, 110234354: 110234354
49 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh38 Chromosome 12, 109800702: 109800702
50 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh37 Chromosome 12, 110238507: 110238507

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
12.22 COL10A1 COL2A1 SEMA3A
2
Show member pathways
11.91 COL10A1 COL2A1
3 10.77 COL10A1 COL2A1
4 9.7 COL10A1 COL2A1 SEMA3A

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 9.54 COL10A1 COL2A1 SEMA3A
2 extracellular matrix GO:0031012 9.32 COL10A1 COL2A1
3 endoplasmic reticulum lumen GO:0005788 9.26 COL10A1 COL2A1
4 collagen-containing extracellular matrix GO:0062023 9.16 COL10A1 COL2A1
5 extracellular space GO:0005615 9.13 COL10A1 COL2A1 SEMA3A
6 collagen trimer GO:0005581 8.62 COL10A1 COL2A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.96 COL10A1 COL2A1
2 skeletal system development GO:0001501 8.62 COL10A1 COL2A1

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 8.96 COL10A1 COL2A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL10A1 COL2A1

Sources for Spondyloepimetaphyseal Dysplasia, Strudwick Type

3 CDC
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17 EFO
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