SEMDSTWK
MCID: SMD002
MIFTS: 39

Smed Strudwick Type (SEMDSTWK) malady

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

Aliases & Classifications for Smed Strudwick Type

Aliases & Descriptions for Smed Strudwick Type:

Name: Smed Strudwick Type 54 50 13
Spondyloepimetaphyseal Dysplasia, Strudwick Type 54 12 71 24 25 66 14
Strudwick Syndrome 71 50 24 25 66 69
Spondylometaphyseal Dysplasia 25 66 29 52
Dappled Metaphysis Syndrome 50 25 66
Semd, Strudwick Type 24 25 66
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type 25 66
Spondyloepimetaphyseal Dysplasia Strudwick Type 50 29
Smed, Strudwick Type 25 66
Smed Type 1 50 66
Smd 50 66
Spondyloepiphyseal Dysplasia Congenita with Dappled Metaphyses 66
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 66
Semdstwk 66
Semdc 66

Characteristics:

Orphanet epidemiological data:

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

HPO:

32
smed strudwick type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 184250
Disease Ontology 12 DOID:0080028
Orphanet 56 ORPHA93346
ICD10 via Orphanet 34 Q77.7
MedGen 40 C0700635
MeSH 42 D001848

Summaries for Smed Strudwick Type

UniProtKB/Swiss-Prot : 66 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.

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 respiratory distress, hypertelorism and osteoarthritis. 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 related phenotype is skeleton.

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 : 54 The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature,... (184250) more...

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 by clinical synopsis from OMIM:

184250

Clinical features from OMIM:

184250

Human phenotypes related to Smed Strudwick Type:

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

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

Publications for Smed Strudwick Type

Variations for Smed Strudwick Type

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

66
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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