SEMDIST
MCID: SPN439
MIFTS: 20
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Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type (SEMDIST)
Categories:
Bone diseases, Genetic diseases
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MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
upper limbs are relatively spared HPO:31Classifications: |
OMIM® :
57
The Isidor-Toutain type of spondyloepimetaphyseal dysplasia (SEMDIST) is characterized by normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. Skeletal radiographs show platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs (Le Caignec et al., 2019). (618728) (Updated 05-Mar-2021)
MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type, is also known as semdist. An important gene associated with Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type is RPL13 (Ribosomal Protein L13). Affiliated tissues include bone, and related phenotypes are scoliosis and platyspondyly UniProtKB/Swiss-Prot : 73 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type: An autosomal dominant bone disease characterized by early postnatal growth deficiency, severe short stature, genu varum, platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs. |
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Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:31 (show all 11)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618728 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:40
Bone
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Articles related to Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:
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ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:6
UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:73
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Search
GEO
for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type.
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