Smed Strudwick Type malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
Aliases & Descriptions for Smed Strudwick Type:
Orphanet epidemiological data:52
spondyloepimetaphyseal dysplasia congenita, strudwick type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)
smed strudwick type:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases
UniProtKB/Swiss-Prot:68 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, kozlowski type and spondylometaphyseal dysplasia, sedaghatian type, and has symptoms including platyspondyly, skeletal dysplasia and micromelia. An important gene associated with Smed Strudwick Type is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways are Degradation of the extracellular matrix and Collagen biosynthesis and modifying enzymes. Affiliated tissues include bone, and related mouse phenotype skeleton.
Disease Ontology:11 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:24 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:50 The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature,... (184250) more...
Symptoms by clinical synopsis from OMIM:184250
Clinical features from OMIM:184250
Symptoms:52 (show all 25)
HPO human phenotypes related to Smed Strudwick Type:(show all 50)
MalaCards organs/tissues related to Smed Strudwick Type:34
UniProtKB/Swiss-Prot genetic disease variations for Smed Strudwick Type:68
Clinvar genetic disease variations for Smed Strudwick Type:5
Search GEO for disease gene expression data for Smed Strudwick Type.
Pathways related to Smed Strudwick Type according to GeneCards Suite gene sharing:
Cellular components related to Smed Strudwick Type according to GeneCards Suite gene sharing:
Biological processes related to Smed Strudwick Type according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet