MCID: SMD002
MIFTS: 40

Smed Strudwick Type malady

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

Aliases & Classifications for Smed Strudwick Type

About this section

Aliases & Descriptions for Smed Strudwick Type:

Name: Smed Strudwick Type 51 47 12
Spondyloepimetaphyseal Dysplasia, Strudwick Type 51 11 70 24 25 69 13
Strudwick Syndrome 70 47 24 25 69 67
Spondylometaphyseal Dysplasia 25 69 26 49
Dappled Metaphysis Syndrome 47 25 69
Semd, Strudwick Type 24 25 69
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type 25 69
Spondyloepimetaphyseal Dysplasia Strudwick Type 47 26
Smed, Strudwick Type 25 69
Smed Type 1 47 69
 
Smd 47 69
Spondyloepiphyseal Dysplasia Congenita with Dappled Metaphyses 69
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type 53
Spondylometaepiphyseal Dysplasia, Strudwick Type 24
Spondylometaphyseal Dysplasia, Strudwick Type 24
Sed Strudwick 25
Smed, Type I 25
Smed Type I 69
Semdstwk 69
Semdc 69

Characteristics:

Orphanet epidemiological data:

53
spondyloepimetaphyseal dysplasia congenita, strudwick type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)

HPO:

63
smed strudwick type:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 184250
Disease Ontology11 DOID:0080028
Orphanet53 ORPHA93346
ICD10 via Orphanet30 Q77.7
MedGen36 C0700635
MeSH38 D001848

Summaries for Smed Strudwick Type

About this section
UniProtKB/Swiss-Prot:69 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 platyspondyly, skeletal dysplasia and micromelia. An important gene associated with Smed Strudwick Type is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways are Degradation of the extracellular matrix and Collagen biosynthesis and modifying enzymes. Affiliated tissues include bone, and related mouse phenotype skeleton.

Disease Ontology:11 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:51 The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature,... (184250) more...

Related Diseases for Smed Strudwick Type

About this section

Graphical network of diseases related to Smed Strudwick Type:



Diseases related to smed strudwick type

Symptoms for Smed Strudwick Type

About this section

Symptoms by clinical synopsis from OMIM:

184250

Clinical features from OMIM:

184250

Human phenotypes related to Smed Strudwick Type:

 63 53 (show all 47)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 platyspondyly63 53 hallmark (90%) Very frequent (99-80%) HP:0000926
2 skeletal dysplasia63 hallmark (90%) HP:0002652
3 micromelia63 53 hallmark (90%) Very frequent (99-80%) HP:0002983
4 hyperlordosis63 53 hallmark (90%) Very frequent (99-80%) HP:0003307
5 short stature63 hallmark (90%) HP:0004322
6 abnormality of epiphysis morphology63 53 hallmark (90%) Very frequent (99-80%) HP:0005930
7 short thorax63 53 hallmark (90%) Very frequent (99-80%) HP:0010306
8 abnormality of the metaphyses63 53 hallmark (90%) Very frequent (99-80%) HP:0000944
9 gait disturbance63 53 hallmark (90%) Frequent (79-30%) HP:0001288
10 abnormality of the hip bone63 hallmark (90%) HP:0003272
11 limb undergrowth63 hallmark (90%) HP:0009826
12 cleft palate63 53 typical (50%) Frequent (79-30%) HP:0000175
13 malar flattening63 typical (50%) HP:0000272
14 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
15 retinal detachment63 53 typical (50%) Frequent (79-30%) HP:0000541
16 myopia63 53 typical (50%) Frequent (79-30%) HP:0000545
17 osteoarthritis63 53 typical (50%) Frequent (79-30%) HP:0002758
18 kyphosis63 53 typical (50%) Frequent (79-30%) HP:0002808
19 abnormality of the femur63 typical (50%) HP:0002823
20 genu valgum63 53 typical (50%) Frequent (79-30%) HP:0002857
21 talipes63 occasional (7.5%) HP:0001883
22 respiratory insufficiency63 occasional (7.5%) HP:0002093
23 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
24 genu varum63 53 occasional (7.5%) Occasional (29-5%) HP:0002970
25 hypoplasia of the odontoid process63 53 occasional (7.5%) Occasional (29-5%) HP:0003311
26 inguinal hernia63 HP:0000023
27 pectus carinatum63 HP:0000768
28 anterior rib cupping63 HP:0000907
29 brachydactyly syndrome63 HP:0001156
30 protuberant abdomen63 HP:0001538
31 pes planus63 HP:0001763
32 spondyloepimetaphyseal dysplasia63 53 Very frequent (99-80%) HP:0002651
33 coxa vara63 53 Frequent (79-30%) HP:0002812
34 metaphyseal irregularity63 HP:0003025
35 hypoplastic pubic bone63 HP:0003173
36 c1-c2 subluxation63 HP:0003320
37 narrow greater sacrosciatic notches63 HP:0003375
38 severe short stature63 HP:0003510
39 club-shaped proximal femur63 HP:0006406
40 delayed pubic bone ossification63 HP:0008788
41 metaphyseal dappling63 HP:0011860
42 abnormality of the sternum53 Very frequent (99-80%)
43 talipes equinovarus53 Occasional (29-5%)
44 respiratory distress53 Occasional (29-5%)
45 disproportionate short stature53 Very frequent (99-80%)
46 flat face53 Frequent (79-30%)
47 short femoral neck53 Frequent (79-30%)

Drugs & Therapeutics for Smed Strudwick Type

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Smed Strudwick Type

Genetic Tests for Smed Strudwick Type

About this section

Genetic tests related to Smed Strudwick Type:

id Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia Strudwick Type26
2 Spondylometaphyseal Dysplasia26
3 Spondyloepimetaphyseal Dysplasia, Strudwick Type24 COL2A1

Anatomical Context for Smed Strudwick Type

About this section

MalaCards organs/tissues related to Smed Strudwick Type:

35
Bone

Animal Models for Smed Strudwick Type or affiliated genes

About this section

MGI Mouse Phenotypes related to Smed Strudwick Type:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5COL10A1, COL2A1, SEMA3A

Publications for Smed Strudwick Type

About this section

Variations for Smed Strudwick Type

About this section

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

69
id Symbol AA change Variation ID SNP ID
1COL2A1p.Gly492ValVAR_001745rs121912881
2COL2A1p.Gly504CysVAR_001746rs121912880
3COL2A1p.Gly909CysVAR_001753rs121912875
4COL2A1p.Gly897ValVAR_023931
5COL2A1p.Arg992GlyVAR_023932rs121912895

Clinvar genetic disease variations for Smed Strudwick Type:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL2A1NM_001844.4(COL2A1): c.1060G> A (p.Gly354Arg)SNVPathogenicrs121912871GRCh37Chr 12, 48383552: 48383552
2COL2A1NM_001844.4(COL2A1): c.2725G> T (p.Gly909Cys)SNVPathogenicrs121912875GRCh37Chr 12, 48373302: 48373302
3COL2A1NM_001844.4(COL2A1): c.1510G> T (p.Gly504Cys)SNVPathogenicrs121912880GRCh37Chr 12, 48380136: 48380136
4COL2A1NM_001844.4(COL2A1): c.1475G> T (p.Gly492Val)SNVPathogenicrs121912881GRCh37Chr 12, 48380171: 48380171
5COL2A1NM_001844.4(COL2A1): c.2974A> G (p.Arg992Gly)SNVPathogenicrs121912895GRCh37Chr 12, 48372103: 48372103
6COL2A1NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser)SNVPathogenicrs121912880GRCh37Chr 12, 48380136: 48380136

Expression for genes affiliated with Smed Strudwick Type

About this section
Search GEO for disease gene expression data for Smed Strudwick Type.

Pathways for genes affiliated with Smed Strudwick Type

About this section

GO Terms for genes affiliated with Smed Strudwick Type

About this section

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

idNameGO IDScoreTop Affiliating Genes
1collagen trimerGO:00055819.6COL10A1, COL2A1
2endoplasmic reticulum lumenGO:00057889.2COL10A1, COL2A1
3proteinaceous extracellular matrixGO:00055788.9COL10A1, COL2A1
4extracellular regionGO:00055768.5COL10A1, COL2A1, SEMA3A

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

idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:00305749.3COL10A1, COL2A1
2cartilage developmentGO:00512169.2COL10A1, COL2A1
3endochondral ossificationGO:00019589.1COL10A1, COL2A1
4extracellular matrix organizationGO:00301989.0COL10A1, COL2A1
5skeletal system developmentGO:00015018.7COL10A1, COL2A1

Sources for Smed Strudwick Type

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet