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

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Aliases & Descriptions for Smed Strudwick Type:

Name: Smed Strudwick Type 52 48 12
Spondyloepimetaphyseal Dysplasia, Strudwick Type 52 11 71 24 25 70 13
Strudwick Syndrome 71 48 24 25 70 68
Spondylometaphyseal Dysplasia 25 70 27 50
Dappled Metaphysis Syndrome 48 25 70
Semd, Strudwick Type 24 25 70
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type 25 70
Spondyloepimetaphyseal Dysplasia Strudwick Type 48 27
Smed, Strudwick Type 25 70
Smed Type 1 48 70
 
Smd 48 70
Spondyloepiphyseal Dysplasia Congenita with Dappled Metaphyses 70
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type 54
Spondylometaepiphyseal Dysplasia, Strudwick Type 24
Spondylometaphyseal Dysplasia, Strudwick Type 24
Sed Strudwick 25
Smed, Type I 25
Smed Type I 70
Semdstwk 70
Semdc 70

Characteristics:

Orphanet epidemiological data:

54
spondyloepimetaphyseal dysplasia congenita, strudwick type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)

HPO:

64
smed strudwick type:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 184250
Disease Ontology11 DOID:0080028
Orphanet54 ORPHA93346
ICD10 via Orphanet31 Q77.7
MedGen37 C0700635
MeSH39 D001848

Summaries for Smed Strudwick Type

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UniProtKB/Swiss-Prot:70 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 Array, Array and Array. An important gene associated with Smed Strudwick Type is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways are Endochondral Ossification and Degradation of the extracellular matrix. Affiliated tissues include bone, and related mouse phenotype skeleton.

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

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).

Related Diseases for Smed Strudwick Type

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



Diseases related to smed strudwick type

Symptoms & Phenotypes for Smed Strudwick Type

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Symptoms by clinical synopsis from OMIM:

184250

Clinical features from OMIM:

184250

Human phenotypes related to Smed Strudwick Type:

 54 64 (show all 41)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate64 54 Frequent (79-30%) HP:0000175
2 hypertelorism64 54 Frequent (79-30%) HP:0000316
3 retinal detachment64 54 Frequent (79-30%) HP:0000541
4 myopia64 54 Frequent (79-30%) HP:0000545
5 abnormality of the sternum64 54 Very frequent (99-80%) HP:0000766
6 platyspondyly64 54 Very frequent (99-80%) HP:0000926
7 abnormality of the metaphyses64 54 Very frequent (99-80%) HP:0000944
8 gait disturbance64 54 Frequent (79-30%) HP:0001288
9 talipes equinovarus64 54 Occasional (29-5%) HP:0001762
10 respiratory distress64 54 Occasional (29-5%) HP:0002098
11 scoliosis64 54 Occasional (29-5%) HP:0002650
12 spondyloepimetaphyseal dysplasia64 54 Very frequent (99-80%) HP:0002651
13 osteoarthritis64 54 Frequent (79-30%) HP:0002758
14 kyphosis64 54 Frequent (79-30%) HP:0002808
15 coxa vara64 54 Frequent (79-30%) HP:0002812
16 genu valgum64 54 Frequent (79-30%) HP:0002857
17 genu varum64 54 Occasional (29-5%) HP:0002970
18 micromelia64 54 Very frequent (99-80%) HP:0002983
19 hyperlordosis64 54 Very frequent (99-80%) HP:0003307
20 hypoplasia of the odontoid process64 54 Occasional (29-5%) HP:0003311
21 disproportionate short stature64 54 Very frequent (99-80%) HP:0003498
22 abnormality of epiphysis morphology64 54 Very frequent (99-80%) HP:0005930
23 short thorax64 54 Very frequent (99-80%) HP:0010306
24 flat face64 54 Frequent (79-30%) HP:0012368
25 short femoral neck64 54 Frequent (79-30%) HP:0100864
26 inguinal hernia64 HP:0000023
27 pectus carinatum64 HP:0000768
28 anterior rib cupping64 HP:0000907
29 brachydactyly syndrome64 HP:0001156
30 protuberant abdomen64 HP:0001538
31 pes planus64 HP:0001763
32 metaphyseal irregularity64 HP:0003025
33 hypoplastic pubic bone64 HP:0003173
34 c1-c2 subluxation64 HP:0003320
35 narrow greater sacrosciatic notches64 HP:0003375
36 severe short stature64 HP:0003510
37 club-shaped proximal femur64 HP:0006406
38 delayed pubic bone ossification64 HP:0008788
39 metaphyseal dappling64 HP:0011860
40 hip dysplasia64 HP:0001385
41 rhizomelia64 HP:0008905

MGI Mouse Phenotypes related to Smed Strudwick Type according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5COL10A1, COL2A1, SEMA3A

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 Type27
2 Spondylometaphyseal Dysplasia27
3 Spondyloepimetaphyseal Dysplasia, Strudwick Type24 COL2A1

Anatomical Context for Smed Strudwick Type

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MalaCards organs/tissues related to Smed Strudwick Type:

36
Bone

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:

70
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

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

idSuper pathwaysScoreTop Affiliating Genes
19.0COL10A1, COL2A1
2
Show member pathways
9.0COL10A1, COL2A1
3
Show member pathways
8.5COL10A1, COL2A1, SEMA3A

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:00055819.8COL10A1, COL2A1
2endoplasmic reticulum lumenGO:00057889.8COL10A1, COL2A1
3extracellular regionGO:00055769.1COL10A1, COL2A1, SEMA3A
4proteinaceous extracellular matrixGO:00055789.0COL10A1, COL2A1

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

idNameGO IDScoreTop Affiliating Genes
1cartilage developmentGO:00512169.7COL10A1, COL2A1
2collagen catabolic processGO:00305749.7COL10A1, COL2A1
3endochondral ossificationGO:00019589.7COL10A1, COL2A1
4extracellular matrix organizationGO:00301989.6COL10A1, COL2A1
5skeletal system developmentGO:00015019.0COL10A1, COL2A1

Sources for Smed Strudwick Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet