MCID: SMD002
MIFTS: 41

Smed Strudwick Type malady

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

Aliases & Classifications for Smed Strudwick Type

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Aliases & Descriptions for Smed Strudwick Type:

Name: Smed Strudwick Type 50 46 12
Spondyloepimetaphyseal Dysplasia, Strudwick Type 50 11 69 23 24 13 68
Strudwick Syndrome 69 46 23 24 68 66
Spondylometaphyseal Dysplasia 24 68 25 48
Dappled Metaphysis Syndrome 46 24 68
Semd, Strudwick Type 23 24 68
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type 24 68
Spondyloepimetaphyseal Dysplasia Strudwick Type 46 25
Smed, Strudwick Type 24 68
Smed Type 1 46 68
 
Smd 46 68
Spondyloepiphyseal Dysplasia Congenita with Dappled Metaphyses 68
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type 52
Spondylometaepiphyseal Dysplasia, Strudwick Type 23
Spondylometaphyseal Dysplasia, Strudwick Type 23
Sed Strudwick 24
Smed, Type I 24
Smed Type I 68
Semdstwk 68
Semdc 68

Characteristics:

Orphanet epidemiological data:

52
spondyloepimetaphyseal dysplasia congenita, strudwick type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)

HPO:

62
smed strudwick type:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 184250
Disease Ontology11 DOID:0080028
Orphanet52 ORPHA93346
ICD10 via Orphanet29 Q77.7
MedGen35 C0700635
MeSH37 D001848

Summaries for Smed Strudwick Type

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UniProtKB/Swiss-Prot:68 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, kozlowski type and spondylometaphyseal dysplasia, sedaghatian 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:24 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:50 The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature,... (184250) more...

Related Diseases for Smed Strudwick Type

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Graphical network of diseases related to Smed Strudwick Type:



Diseases related to smed strudwick type

Symptoms for Smed Strudwick Type

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Symptoms by clinical synopsis from OMIM:

184250

Clinical features from OMIM:

184250

Symptoms:

 52 (show all 25)
  • cleft palate
  • hypertelorism
  • retinal detachment
  • myopia
  • abnormality of the sternum
  • platyspondyly
  • abnormality of the metaphyses
  • gait disturbance
  • talipes equinovarus
  • respiratory distress
  • scoliosis
  • spondyloepimetaphyseal dysplasia
  • osteoarthritis
  • kyphosis
  • coxa vara
  • genu valgum
  • genu varum
  • micromelia
  • hyperlordosis
  • hypoplasia of the odontoid process
  • disproportionate short stature
  • abnormality of epiphysis morphology
  • short thorax
  • flat face
  • short femoral neck

HPO human phenotypes related to Smed Strudwick Type:

(show all 50)
id Description Frequency HPO Source Accession
1 platyspondyly hallmark (90%) HP:0000926
2 skeletal dysplasia hallmark (90%) HP:0002652
3 micromelia hallmark (90%) HP:0002983
4 hyperlordosis hallmark (90%) HP:0003307
5 short stature hallmark (90%) HP:0004322
6 abnormality of epiphysis morphology hallmark (90%) HP:0005930
7 short thorax hallmark (90%) HP:0010306
8 abnormality of the metaphyses hallmark (90%) HP:0000944
9 gait disturbance hallmark (90%) HP:0001288
10 abnormality of the hip bone hallmark (90%) HP:0003272
11 limb undergrowth hallmark (90%) HP:0009826
12 cleft palate typical (50%) HP:0000175
13 malar flattening typical (50%) HP:0000272
14 hypertelorism typical (50%) HP:0000316
15 retinal detachment typical (50%) HP:0000541
16 myopia typical (50%) HP:0000545
17 gait disturbance typical (50%) HP:0001288
18 osteoarthritis typical (50%) HP:0002758
19 kyphosis typical (50%) HP:0002808
20 abnormality of the femur typical (50%) HP:0002823
21 genu valgum typical (50%) HP:0002857
22 abnormality of the hip bone typical (50%) HP:0003272
23 talipes occasional (7.5%) HP:0001883
24 respiratory insufficiency occasional (7.5%) HP:0002093
25 scoliosis occasional (7.5%) HP:0002650
26 genu varum occasional (7.5%) HP:0002970
27 hypoplasia of the odontoid process occasional (7.5%) HP:0003311
28 inguinal hernia HP:0000023
29 cleft palate HP:0000175
30 myopia HP:0000545
31 pectus carinatum HP:0000768
32 anterior rib cupping HP:0000907
33 platyspondyly HP:0000926
34 brachydactyly syndrome HP:0001156
35 protuberant abdomen HP:0001538
36 pes planus HP:0001763
37 scoliosis HP:0002650
38 spondyloepimetaphyseal dysplasia HP:0002651
39 coxa vara HP:0002812
40 genu valgum HP:0002857
41 metaphyseal irregularity HP:0003025
42 hypoplastic pubic bone HP:0003173
43 hyperlordosis HP:0003307
44 hypoplasia of the odontoid process HP:0003311
45 c1-c2 subluxation HP:0003320
46 narrow greater sacrosciatic notches HP:0003375
47 severe short stature HP:0003510
48 club-shaped proximal femur HP:0006406
49 delayed pubic bone ossification HP:0008788
50 metaphyseal dappling HP:0011860

Drugs & Therapeutics for Smed Strudwick Type

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Smed Strudwick Type

Genetic Tests for Smed Strudwick Type

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Genetic tests related to Smed Strudwick Type:

id Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia Strudwick Type25
2 Spondylometaphyseal Dysplasia25
3 Spondyloepimetaphyseal Dysplasia, Strudwick Type23 COL2A1

Anatomical Context for Smed Strudwick Type

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MalaCards organs/tissues related to Smed Strudwick Type:

34
Bone

Animal Models for Smed Strudwick Type or affiliated genes

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MGI Mouse Phenotypes related to Smed Strudwick Type:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5COL10A1, COL2A1, SEMA3A

Publications for Smed Strudwick Type

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Variations for Smed Strudwick Type

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

68
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)single nucleotide variantPathogenicrs121912871GRCh37Chr 12, 48383552: 48383552
2COL2A1NM_001844.4(COL2A1): c.2725G> T (p.Gly909Cys)single nucleotide variantPathogenicrs121912875GRCh37Chr 12, 48373302: 48373302
3COL2A1NM_001844.4(COL2A1): c.1510G> T (p.Gly504Cys)single nucleotide variantPathogenicrs121912880GRCh37Chr 12, 48380136: 48380136
4COL2A1NM_001844.4(COL2A1): c.1475G> T (p.Gly492Val)single nucleotide variantPathogenicrs121912881GRCh37Chr 12, 48380171: 48380171
5COL2A1NM_001844.4(COL2A1): c.2974A> G (p.Arg992Gly)single nucleotide variantPathogenicrs121912895GRCh37Chr 12, 48372103: 48372103
6COL2A1NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser)single nucleotide variantPathogenicrs121912880GRCh37Chr 12, 48380136: 48380136

Expression for genes affiliated with Smed Strudwick Type

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

Pathways for genes affiliated with Smed Strudwick Type

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GO Terms for genes affiliated with Smed Strudwick Type

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

idNameGO IDScoreTop Affiliating Genes
1collagen trimerGO:00055819.5COL10A1, COL2A1
2proteinaceous extracellular matrixGO:00055789.2COL10A1, COL2A1
3endoplasmic reticulum lumenGO:00057889.1COL10A1, 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:00512169.1COL10A1, COL2A1
3endochondral ossificationGO:00019589.0COL10A1, COL2A1
4extracellular matrix organizationGO:00301989.0COL10A1, COL2A1
5skeletal system developmentGO:00015018.7COL10A1, COL2A1

Sources for Smed Strudwick Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet