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Spondyloepimetaphyseal Dysplasia, Strudwick Type (SEMDSTWK)
Alias:
Spondylometaphyseal Dysplasia
|
Strudwick Syndrome
|
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type
|
Dappled Metaphysis Syndrome
|
Semd, Strudwick Type
|
Smed, Strudwick Type
|
Semdstwk
|
Semdc
|
Smd
|
Spondyloepiphyseal Dysplasia Congenita with Dappled Metaphyses
|
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
|
Smed Strudwick Type
|
Smed, Type I
|
Smed Type 1
|
Smed Type I
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spondyloepimetaphyseal dysplasia, Strudwick type is a genetic bone disorder characterized by disproportionate short stature, pectus carinatum, scoliosis, and skeletal abnormalities like lordosis, flattened vertebrae, coxa vara, and clubfoot. It affects bone growth, leading to dwarfism and vision problems. The condition is associated with mutations in the COL2A1 gene and is a subtype of type II collagenopathies. Radiographically, irregular sclerotic changes in the metaphyses of long bones are observed, described as dappled. Walking and growth disturbances typically manifest in the second year of life, with platyspondyly and distinct hip and knee metaphyseal lesions being common features.
Related ID:
Basic Information
Inheritance | Age of Onset | Prevalence | Related Genes | Related Mouse Models | Reference | MALACARDS |
|---|---|---|---|---|---|---|
AD Autosomal dominant XLR X-linked recessive AR Autosomal recessive | Infant | 1-9/100000 Prevalence at birth: 1-9/100000 (Europe) Point prevalence: <1/1000000 (Worldwide) | 406 | 2949 | 19 |
Medical Symptom
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.
Data Source: UniProt, PubMed