SMD
MCID: SPN028
MIFTS: 39

Spondyloepimetaphyseal Dysplasia, Strudwick Type (SMD) malady

Bone diseases, Fetal diseases categories

Summaries for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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8Disease Ontology, 21Genetics Home Reference, 46OMIM, 32MalaCards
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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 algerian 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 bone and lung.

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:46 184250

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
spondyloepimetaphyseal dysplasia congenita, strudwick type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000


Aliases & Descriptions:

spondyloepimetaphyseal dysplasia, strudwick type 8 63 21
strudwick syndrome 63 42 21 60
spondyloepimetaphyseal dysplasia strudwick type 42 20 22
spondylometaphyseal dysplasia 63 21 44
dappled metaphysis syndrome 63 42 21
spondylometaepiphyseal dysplasia congenita, strudwick type 63 21
smed, strudwick type 63 21
semd, strudwick type 63 21
smed strudwick type 42 46
sed strudwick 63 21
smed, type i 63 21
spondyloepimetaphyseal dysplasia congenita, strudwick type 48
spondylometaphyseal dysplasia, strudwick type 63
smed type 1 42
smd 42


External Ids:

Disease Ontology8 DOID:0080028
OMIM46 184250
ICD10 via Orphanet26 Q77.7

Related Diseases for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

184250

Clinical synopsis from OMIM:

184250

Symptoms:

48 (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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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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

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32MalaCards
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MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

32
Bone, Lung

Animal Models for Spondyloepimetaphyseal Dysplasia, Strudwick Type or affiliated genes

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Publications for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type:

62
id Symbol AA change Variation ID 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

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spondyloepimetaphyseal Dysplasia, Strudwick Type

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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet