SMD
MCID: SPN028
MIFTS: 38

Spondyloepimetaphyseal Dysplasia, Strudwick Type (SMD) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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9Disease Ontology, 48OMIM, 34MalaCards
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Disease Ontology:9 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).

MalaCards: Spondyloepimetaphyseal Dysplasia, Strudwick Type, also known as strudwick syndrome, is related to axial spondylometaphyseal dysplasia and spondylometaphyseal dysplasia sedaghatian type, and has symptoms including femur anomaly/absence/agenesis/hypoplasia/bifurcation, genu valgum and abnormal gait. An important gene associated with Spondyloepimetaphyseal Dysplasia, Strudwick Type is COL2A1 (collagen, type II, alpha 1). Affiliated tissues include lung and bone.

Description from OMIM:48 184250

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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9Disease Ontology, 66Wikipedia, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

50
spondyloepimetaphyseal dysplasia congenita, strudwick type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000


Aliases & Descriptions:

spondyloepimetaphyseal dysplasia, strudwick type 9 66 22
strudwick syndrome 66 44 22 63
spondyloepimetaphyseal dysplasia strudwick type 44 21 23
spondylometaphyseal dysplasia 66 22 46
dappled metaphysis syndrome 66 44 22
spondylometaepiphyseal dysplasia congenita, strudwick type 66 22
smed, strudwick type 66 22
semd, strudwick type 66 22
smed strudwick type 44 48
sed strudwick 66 22
smed, type i 66 22
spondyloepimetaphyseal dysplasia congenita, strudwick type 50
spondylometaphyseal dysplasia, strudwick type 66
smed type 1 44
smd 44


External Ids:

Disease Ontology9 DOID:0080028
OMIM48 184250
ICD10 via Orphanet27 Q77.7

Related Diseases for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:



Diseases related to spondyloepimetaphyseal dysplasia, strudwick type

Symptoms for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

184250

Clinical features from OMIM:

184250

Symptoms:

50 (show all 25)
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • genu valgum
  • abnormal gait
  • osteoarthritis
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • scoliosis
  • odontoid hypoplasia
  • genu varum
  • talipes-varus/metatarsal varus
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • kyphosis
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • myopia
  • lordosis
  • platyspondyly
  • short limbs/micromelia/brachymelia
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • metaphyseal anomaly
  • epiphyseal anomaly
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • flat face
  • hypertelorism
  • retinal detachment
  • short rib cage/thorax

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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21GeneTests, 23GTR
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Genetic tests related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

id Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia, Strudwick Type21 COL2A1
2 Spondyloepimetaphyseal Dysplasia Strudwick Type23

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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34MalaCards
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MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

34
Lung, Bone

Animal Models for Spondyloepimetaphyseal Dysplasia, Strudwick Type or affiliated genes

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Publications for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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53PubMed
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Articles related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

idTitleAuthorsYear
1
Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. (16280719)
2006
2
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. (7550321)
1995

Variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type:

65
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 Spondyloepimetaphyseal Dysplasia, Strudwick Type:

1
id Gene Name 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

Expression for genes affiliated with Spondyloepimetaphyseal Dysplasia, Strudwick Type

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spondyloepimetaphyseal Dysplasia, Strudwick Type

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Strudwick Type.

Pathways for genes affiliated with Spondyloepimetaphyseal Dysplasia, Strudwick Type

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Compounds for genes affiliated with Spondyloepimetaphyseal Dysplasia, Strudwick Type

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GO Terms for genes affiliated with Spondyloepimetaphyseal Dysplasia, Strudwick Type

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Products for genes affiliated with Spondyloepimetaphyseal Dysplasia, Strudwick Type

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Sources for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet