MCID: SMD002
MIFTS: 41

Smed Strudwick Type malady

Genetic diseases, Rare diseases, Bone diseases categories

Aliases & Classifications for Smed Strudwick Type

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Aliases & Descriptions for Smed Strudwick Type:

Name: Smed Strudwick Type 49 11 45
Strudwick Syndrome 68 45 22 23 65 67
Spondyloepimetaphyseal Dysplasia, Strudwick Type 10 68 23 12 67
Spondylometaphyseal Dysplasia 68 23 47 67
Dappled Metaphysis Syndrome 68 45 23 67
Semd, Strudwick Type 68 22 23 67
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type 68 23 67
Spondyloepimetaphyseal Dysplasia Strudwick Type 45 22 24
Smed, Strudwick Type 68 23 67
Spondylometaphyseal Dysplasia, Strudwick Type 68 22
 
Sed Strudwick 68 23
Smed, Type I 68 23
Smed Type 1 45 67
Smd 45 67
Spondyloepiphyseal Dysplasia Congenita with Dappled Metaphyses 67
Spondylometaepiphyseal Dysplasia, Strudwick Type 22
Smed Type I 67
Semdstwk 67
Semdc 67


Classifications:



External Ids:

OMIM49 184250
Disease Ontology10 DOID:0080028
MedGen34 C0700635
MeSH36 D001848

Summaries for Smed Strudwick Type

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UniProtKB/Swiss-Prot:67 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 strudwick syndrome, is related to spondylometaphyseal dysplasia with cone-rod dystrophy and axial spondylometaphyseal dysplasia, and has symptoms including platyspondyly, skeletal dysplasia and micromelia. An important gene associated with Smed Strudwick Type is COL2A1 (Collagen, Type II, Alpha 1), 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:10 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:23 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:49 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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Diseases related to Smed Strudwick Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1spondylometaphyseal dysplasia with cone-rod dystrophy10.8
2axial spondylometaphyseal dysplasia10.8
3spondyloepimetaphyseal dysplasia10.8
4spondylometaphyseal dysplasia, kozlowski type10.7
5spondylometaphyseal dysplasia sedaghatian type10.7
6spondylometaphyseal dysplasia algerian type10.7
7spondylometaphyseal dysplasia corner fracture type10.6
8cone-rod dystrophy10.6
9spondylometaphyseal dysplasia, megarbane-dagher-melike type10.5
10spondylometaphyseal dysplasia type a410.5
11spondylometaphyseal dysplasia with dentinogenesis imperfecta10.5
12spondylometaphyseal dysplasia x-linked10.5
13retinal detachment10.5
14retinitis10.5
15dysspondyloenchondromatosis10.5
16spondyloenchondrodysplasia with immune dysregulation10.5
17spondylometaphyseal dysplasia east-african type10.5
18spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism10.5
19spondylometaphyseal dysplasia, golden type10.5
20spondylometaphyseal dysplasia, czarny-ratajczak type10.4
21autosomal recessive spondylometaphyseal dysplasia, mégarbané type10.4
22metaphyseal chondrodysplasia, schmid type10.3
23spondyloenchondrodysplasia10.3
24opsismodysplasia10.2
25metatropic dysplasia10.2
26retinitis pigmentosa10.2
27cerebellar hypoplasia10.2
28pachygyria10.2
29stargardt disease 110.1
30systemic lupus erythematosus10.1
31macular degeneration, age-related, 110.1
32stargardt disease10.1
33eye degenerative disease10.1
34fundus dystrophy10.1
35lupus erythematosus10.1
36retinal degeneration10.1
37retinal disease10.1
38stargardt macular degeneration10.1
39macular degeneration, age-related, 210.0
40macular degeneration, age-related, 410.0
41hepatocellular carcinoma10.0
42myelodysplastic syndrome10.0
43leukemia, acute myeloid10.0
44aplastic anemia10.0
45adult syndrome10.0
46attention deficit-hyperactivity disorder10.0
47stargardt disease 410.0
48macular dystrophy, retinal, 210.0
49macular dystrophy, retinal, 310.0
50stargardt disease 310.0

Graphical network of the top 20 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

HPO human phenotypes related to Smed Strudwick Type:

(show all 51)
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 autosomal dominant inheritance HP:0000006
29 inguinal hernia HP:0000023
30 cleft palate HP:0000175
31 myopia HP:0000545
32 pectus carinatum HP:0000768
33 anterior rib cupping HP:0000907
34 platyspondyly HP:0000926
35 brachydactyly syndrome HP:0001156
36 protuberant abdomen HP:0001538
37 pes planus HP:0001763
38 scoliosis HP:0002650
39 spondyloepimetaphyseal dysplasia HP:0002651
40 coxa vara HP:0002812
41 genu valgum HP:0002857
42 metaphyseal irregularity HP:0003025
43 hypoplastic pubic bone HP:0003173
44 hyperlordosis HP:0003307
45 hypoplasia of the odontoid process HP:0003311
46 c1-c2 subluxation HP:0003320
47 narrow greater sacrosciatic notches HP:0003375
48 severe short stature HP:0003510
49 club-shaped proximal femur HP:0006406
50 delayed pubic bone ossification HP:0008788
51 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 Type22 COL2A1
2 Spondyloepimetaphyseal Dysplasia Strudwick Type24

Anatomical Context for Smed Strudwick Type

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MalaCards organs/tissues related to Smed Strudwick Type:

33
Bone

Animal Models for Smed Strudwick Type or affiliated genes

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MGI Mouse Phenotypes related to Smed Strudwick Type:

38
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:

67
id Symbol AA change Variation ID SNP ID
1COL2A1p.Gly492ValVAR_001745
2COL2A1p.Gly504CysVAR_001746
3COL2A1p.Gly909CysVAR_001753
4COL2A1p.Gly897ValVAR_023931
5COL2A1p.Arg992GlyVAR_023932

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
1proteinaceous extracellular matrixGO:00055789.2COL10A1, COL2A1
2collagen trimerGO:00055818.9COL10A1, COL2A1
3endoplasmic reticulum lumenGO:00057888.7COL10A1, COL2A1
4extracellular regionGO:00055768.5COL10A1, COL2A1, SEMA3A

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

idNameGO IDScoreTop Affiliating Genes
1skeletal system developmentGO:00015019.2COL10A1, COL2A1
2extracellular matrix disassemblyGO:00226179.0COL10A1, COL2A1
3extracellular matrix organizationGO:00301989.0COL10A1, COL2A1
4collagen catabolic processGO:00305748.7COL10A1, COL2A1

Sources for Smed Strudwick Type

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet