MCID: SMD002
MIFTS: 39

Smed Strudwick Type malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Smed Strudwick Type

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Aliases & Descriptions for Smed Strudwick Type:

Name: Smed Strudwick Type 49 11 45
Spondyloepimetaphyseal Dysplasia, Strudwick Type 10 68 22 23 12 67
Strudwick Syndrome 68 45 22 23 67 65
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
Smed, Strudwick Type 68 23 67
Spondyloepimetaphyseal Dysplasia Strudwick Type 45 24
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

Characteristics:

HPO:

61
smed strudwick type:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 184250
Disease Ontology10 DOID:0080028
MedGen34 C0700635
MeSH36 D001848
UMLS65 C0700635

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 spondyloepimetaphyseal dysplasia, strudwick type, is related to spondylometaphyseal dysplasia with cone-rod dystrophy and spondylometaphyseal dysplasia, kozlowski type, and has symptoms including short thorax, abnormality of epiphysis morphology and short stature. An important gene associated with Smed Strudwick Type is COL2A1 (Collagen Type II Alpha 1), and among its related pathways are Collagen biosynthesis and modifying enzymes and Endochondral Ossification. 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 67)
idRelated DiseaseScoreTop Affiliating Genes
1spondylometaphyseal dysplasia with cone-rod dystrophy12.6
2spondylometaphyseal dysplasia, kozlowski type12.6
3spondylometaphyseal dysplasia sedaghatian type12.6
4axial spondylometaphyseal dysplasia12.6
5spondylometaphyseal dysplasia, megarbane-dagher-melike type12.5
6spondylometaphyseal dysplasia algerian type12.5
7spondylometaphyseal dysplasia corner fracture type12.5
8spondylometaphyseal dysplasia type a412.4
9spondylometaphyseal dysplasia, golden type12.4
10spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism12.4
11spondylometaphyseal dysplasia with dentinogenesis imperfecta12.4
12spondylometaphyseal dysplasia x-linked12.4
13spondylometaphyseal dysplasia east-african type12.3
14spondylometaphyseal dysplasia, czarny-ratajczak type12.3
15regressive spondylometaphyseal dysplasia12.3
16autosomal recessive spondylometaphyseal dysplasia, mégarbané type12.3
17metaphyseal chondrodysplasia, schmid type11.7
18spondyloenchondrodysplasia with immune dysregulation11.6
19spondyloenchondrodysplasia11.3
20rheumatoid arthritis10.6
21arthritis10.6
22atherosclerosis10.6
23motor neuron disease10.6
24neuronitis10.6
25opsismodysplasia10.4
26schizophrenia10.4
27malaria10.2
28prostate cancer10.2
29breast cancer10.2
30hepatitis c virus10.2
31dermatofibrosarcoma protuberans10.2
32craniosynostosis10.2
33cutaneous leishmaniasis10.2
34hepatitis10.2
35lymphomatoid granulomatosis10.2
36borderline personality disorder10.2
37allergic conjunctivitis10.2
38heart disease10.2
39pericardial effusion10.2
40blastomycosis10.2
41uveitis10.2
42addison's disease10.2
43prostatitis10.2
44personality disorder10.2
45vascular disease10.2
46pericarditis10.2
47hepatitis c10.2
48hypogonadism10.2
49dermatitis10.2
50contact dermatitis10.2

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

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

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

idNameGO IDScoreTop Affiliating Genes
1axon guidanceGO:00074119.3COL2A1, SEMA3A
2collagen catabolic processGO:00305749.0COL10A1, COL2A1
3extracellular matrix disassemblyGO:00226178.7COL10A1, 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