MCID: SMD002
MIFTS: 41

Smed Strudwick Type

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

Aliases & Classifications for Smed Strudwick Type

MalaCards integrated aliases for Smed Strudwick Type:

Name: Smed Strudwick Type 54 50 13
Spondyloepimetaphyseal Dysplasia, Strudwick Type 12 72 24 25 71 14
Strudwick Syndrome 72 50 24 25 71 69
Spondylometaphyseal Dysplasia 25 71 29 52
Dappled Metaphysis Syndrome 50 25 71
Semd, Strudwick Type 24 25 71
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type 25 71
Spondyloepimetaphyseal Dysplasia Strudwick Type 50 29
Smed, Strudwick Type 25 71
Smed Type 1 50 71
Smd 50 71
Spondyloepiphyseal Dysplasia Congenita with Dappled Metaphyses 71
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type 56
Spondylometaepiphyseal Dysplasia, Strudwick Type 24
Spondylometaphyseal Dysplasia, Strudwick Type 24
Sed Strudwick 25
Smed, Type I 25
Smed Type I 71
Semdstwk 71
Semdc 71

Characteristics:

Orphanet epidemiological data:

56
spondyloepimetaphyseal dysplasia congenita, strudwick type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
smed strudwick type:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Smed Strudwick Type

NIH Rare Diseases : 50 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. last updated: 9/30/2009

MalaCards based summary : Smed Strudwick Type, also known as spondyloepimetaphyseal dysplasia, strudwick type, is related to spondylometaphyseal dysplasia, sedaghatian type and spondylometaphyseal dysplasia, kozlowski type, and has symptoms including scoliosis, myopia and retinal detachment. An important gene associated with Smed 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 and eye, and related phenotype is skeleton.

UniProtKB/Swiss-Prot : 71 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.

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 : 54
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)

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).

Related Diseases for Smed Strudwick Type

Graphical network of the top 20 diseases related to Smed Strudwick Type:



Diseases related to Smed Strudwick Type

Symptoms & Phenotypes for Smed Strudwick Type

Symptoms via clinical synopsis from OMIM:

54

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

Head And Neck- Eyes:
myopia

Chest- External Features:
pectus carinatum

Abdomen- External Features:
protuberant abdomen

Neurologic:
normal intelligence

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

Skeletal- Hands:
brachydactyly

Head And Neck- Mouth:
cleft palate

Genitourinary- External Genitalia Male:
inguinal hernia

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

Skeletal- Feet:
pes planus

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


Clinical features from OMIM:

184250

Human phenotypes related to Smed Strudwick Type:

56 32 (show all 42)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
2 myopia 56 32 frequent (33%) Frequent (79-30%) HP:0000545
3 retinal detachment 56 32 frequent (33%) Frequent (79-30%) HP:0000541
4 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
5 platyspondyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000926
6 kyphosis 56 32 frequent (33%) Frequent (79-30%) HP:0002808
7 cleft palate 56 32 frequent (33%) Frequent (79-30%) HP:0000175
8 respiratory distress 56 32 occasional (7.5%) Occasional (29-5%) HP:0002098
9 genu valgum 56 32 frequent (33%) Frequent (79-30%) HP:0002857
10 genu varum 56 32 occasional (7.5%) Occasional (29-5%) HP:0002970
11 talipes equinovarus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001762
12 spondyloepimetaphyseal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002651
13 osteoarthritis 56 32 frequent (33%) Frequent (79-30%) HP:0002758
14 coxa vara 56 32 frequent (33%) Frequent (79-30%) HP:0002812
15 flat face 56 32 frequent (33%) Frequent (79-30%) HP:0012368
16 hyperlordosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0003307
17 micromelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002983
18 short femoral neck 56 32 frequent (33%) Frequent (79-30%) HP:0100864
19 gait disturbance 56 32 hallmark (90%) Frequent (79-30%) HP:0001288
20 short thorax 56 32 hallmark (90%) Very frequent (99-80%) HP:0010306
21 abnormality of epiphysis morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0005930
22 abnormality of the sternum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000766
23 hypoplasia of the odontoid process 56 32 occasional (7.5%) Occasional (29-5%) HP:0003311
24 disproportionate short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0003498
25 brachydactyly 32 HP:0001156
26 pectus carinatum 32 HP:0000768
27 inguinal hernia 32 HP:0000023
28 protuberant abdomen 32 HP:0001538
29 hypoplastic pubic bone 32 HP:0003173
30 anterior rib cupping 32 HP:0000907
31 c1-c2 subluxation 32 HP:0003320
32 pes planus 32 HP:0001763
33 rhizomelia 32 hallmark (90%) HP:0008905
34 delayed pubic bone ossification 32 HP:0008788
35 hip dysplasia 32 hallmark (90%) HP:0001385
36 metaphyseal irregularity 32 HP:0003025
37 abnormality of the metaphyses 56 Very frequent (99-80%)
38 severe short stature 32 HP:0003510
39 club-shaped proximal femur 32 HP:0006406
40 narrow greater sacrosciatic notches 32 HP:0003375
41 metaphyseal dappling 32 HP:0011860
42 abnormality of the metaphysis 32 hallmark (90%) HP:0000944

MGI Mouse Phenotypes related to Smed Strudwick Type:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 8.8 COL10A1 COL2A1 SEMA3A

Drugs & Therapeutics for Smed Strudwick Type

Search Clinical Trials , NIH Clinical Center for Smed Strudwick Type

Genetic Tests for Smed Strudwick Type

Genetic tests related to Smed Strudwick Type:

id Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia Strudwick Type 29
2 Spondylometaphyseal Dysplasia 29
3 Spondyloepimetaphyseal Dysplasia, Strudwick Type 24 COL2A1

Anatomical Context for Smed Strudwick Type

MalaCards organs/tissues related to Smed Strudwick Type:

39
Bone, Eye

Publications for Smed Strudwick Type

Variations for Smed Strudwick Type

UniProtKB/Swiss-Prot genetic disease variations for Smed Strudwick Type:

71
id 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 Smed Strudwick Type:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.1060G> A (p.Gly354Arg) single nucleotide variant Pathogenic rs121912871 GRCh37 Chromosome 12, 48383552: 48383552
2 COL2A1 NM_001844.4(COL2A1): c.2725G> T (p.Gly909Cys) single nucleotide variant Pathogenic rs121912875 GRCh37 Chromosome 12, 48373302: 48373302
3 COL2A1 NM_001844.4(COL2A1): c.1510G> T (p.Gly504Cys) single nucleotide variant Pathogenic rs121912880 GRCh37 Chromosome 12, 48380136: 48380136
4 COL2A1 NM_001844.4(COL2A1): c.1475G> T (p.Gly492Val) single nucleotide variant Pathogenic rs121912881 GRCh37 Chromosome 12, 48380171: 48380171
5 COL2A1 NM_001844.4(COL2A1): c.2974A> G (p.Arg992Gly) single nucleotide variant Pathogenic rs121912895 GRCh37 Chromosome 12, 48372103: 48372103
6 COL2A1 NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser) single nucleotide variant Pathogenic rs121912880 GRCh37 Chromosome 12, 48380136: 48380136

Expression for Smed Strudwick Type

Search GEO for disease gene expression data for Smed Strudwick Type.

Pathways for Smed Strudwick Type

Pathways related to Smed Strudwick Type according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.02 COL10A1 COL2A1 SEMA3A
2
Show member pathways
11.81 COL10A1 COL2A1
3 10.44 COL10A1 COL2A1

GO Terms for Smed Strudwick Type

Cellular components related to Smed Strudwick Type according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 COL10A1 COL2A1 SEMA3A
2 proteinaceous extracellular matrix GO:0005578 9.16 COL10A1 COL2A1
3 endoplasmic reticulum lumen GO:0005788 8.96 COL10A1 COL2A1
4 collagen trimer GO:0005581 8.62 COL10A1 COL2A1

Biological processes related to Smed Strudwick Type according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.32 COL10A1 COL2A1
2 skeletal system development GO:0001501 9.26 COL10A1 COL2A1
3 cartilage development GO:0051216 9.16 COL10A1 COL2A1
4 collagen catabolic process GO:0030574 8.96 COL10A1 COL2A1
5 endochondral ossification GO:0001958 8.62 COL10A1 COL2A1

Sources for Smed Strudwick Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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