SMD
MCID: SPN028
MIFTS: 31

Spondyloepimetaphyseal Dysplasia, Strudwick Type (SMD) malady

Bone, Fetal categories

Summaries for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Sources:
8Disease Ontology, 21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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.

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 hypertelorism, genu valgum and epiphyseal anomaly. An important gene associated with Spondyloepimetaphyseal Dysplasia, Strudwick Type is COL2A1 (collagen, type II, alpha 1).

Disease Ontology:8 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).

Description from OMIM:47 184250

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
spondyloepimetaphyseal dysplasia congenita, strudwick type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000


Aliases & Descriptions:

spondyloepimetaphyseal dysplasia, strudwick type 8 64 21
strudwick syndrome 64 43 21 61
spondyloepimetaphyseal dysplasia strudwick type 43 20 22
spondylometaphyseal dysplasia 64 21 45
dappled metaphysis syndrome 64 43 21
spondylometaepiphyseal dysplasia congenita, strudwick type 64 21
smed, strudwick type 64 21
semd, strudwick type 64 21
smed strudwick type 43 47
sed strudwick 64 21
smed, type i 64 21
spondyloepimetaphyseal dysplasia congenita, strudwick type 49
spondylometaphyseal dysplasia, strudwick type 64
smed type 1 43
smd 43


External Ids:

Disease Ontology8 DOID:0080028
OMIM47 184250
ICD10 via Orphanet26 Q77.7

Related Diseases for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:



Diseases related to spondyloepimetaphyseal dysplasia, strudwick type

Clinical Features for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

184250

Clinical synopsis from OMIM:

184250

Symptoms:

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

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Drug clinical trials:

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Genetic Tests for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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20GeneTests, 22GTR
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Genetic tests related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

id Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia, Strudwick Type20 COL2A1
2 Spondyloepimetaphyseal Dysplasia Strudwick Type22

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Animal Models for Spondyloepimetaphyseal Dysplasia, Strudwick Type or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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51PubMed
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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

Genetic Variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type:

63
id Symbol AA change Variation SNP ID
1COL2A1p.Gly492ValVAR_001745
2COL2A1p.Gly504CysVAR_001746
3COL2A1p.Gly909CysVAR_001753
4COL2A1p.Gly897ValVAR_023931
5COL2A1p.Arg992GlyVAR_023932

Expression for genes affiliated with Spondyloepimetaphyseal Dysplasia, Strudwick Type

Sources:
1BioGPS, 15Gene 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

Compounds for genes affiliated with Spondyloepimetaphyseal Dysplasia, Strudwick Type

GO Terms for genes affiliated with Spondyloepimetaphyseal Dysplasia, Strudwick Type

Products for genes affiliated with Spondyloepimetaphyseal Dysplasia, Strudwick Type

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Sources for Spondyloepimetaphyseal Dysplasia, Strudwick Type

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet