SEMDJL1
MCID: SPN253
MIFTS: 44
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Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures (SEMDJL1)
Categories:
Bone diseases, Genetic diseases
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Aliases & Classifications for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...
MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:
Name: Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures
57
11
28
5
Characteristics:Inheritance:
Autosomal recessive 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
common in afrikaan population, south africa death in first-second decade of life secondary to cardio-respiratory compromise Classifications: |
OMIM®: 57 Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Nonaxial skeletal involvement includes elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed (summary by Smith et al., 1999). Patients with a similar phenotype and fractures have been described (Malfait et al., 2013). (271640) (Updated 08-Dec-2022) MalaCards based summary: Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures, also known as semdjl1, is related to spondyloepimetaphyseal dysplasia and ehlers-danlos syndrome. An important gene associated with Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures is B3GALT6 (Beta-1,3-Galactosyltransferase 6), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include bone, heart and spinal cord, and related phenotypes are carpal synostosis and high palate UniProtKB/Swiss-Prot: 73 A bone disease characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Additional skeletal features include elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed. Disease Ontology: 11 A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has material basis in homozygous or compound heterozygous mutation in B3GALT6 on chromosome 1p36.33. |
Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...
Human phenotypes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:30 (show top 50) (show all 67)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:271640 (Updated 08-Dec-2022) |
Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...
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Organs/tissues related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:
MalaCards :
Bone,
Heart,
Spinal Cord,
Skin
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Articles related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:(show all 28)
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ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:5 (show all 20)
UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:73
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Search
GEO
for disease gene expression data for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures.
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Pathways related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures according to GeneCards Suite gene sharing:
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Cellular components related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures according to GeneCards Suite gene sharing:
Biological processes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures according to GeneCards Suite gene sharing:
Molecular functions related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures according to GeneCards Suite gene sharing:
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