MCID: SPN300
MIFTS: 16
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Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Categories:
Bone diseases, Rare diseases
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MalaCards integrated aliases for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
progressive disease onset between 2 to 20 years HPO:32Classifications: |
NIH Rare Diseases
:
53
Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.
MalaCards based summary : Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant, is also known as autosomal dominant spondyloepiphyseal dysplasia tarda, and has symptoms including bilateral knee pain An important gene associated with Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant is SPDT (Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant). Affiliated tissues include bone, and related phenotypes are malar flattening and short neck
Description from OMIM:
184100
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:184100Human phenotypes related to Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant:32 (show all 16)
UMLS symptoms related to Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant:bilateral knee pain |
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MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant:41
Bone
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Search
GEO
for disease gene expression data for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant.
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