Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures (SEMDJL1)

External Ids:

Disease Ontology 11 DOID:0112198 OMIM® 57 271640 OMIM Phenotypic Series 57 PS271640

MeSH 43 D010009 MedGen 40 C0432243 SNOMED-CT via HPO 69 122480009 157265008 161832001 18265008 203534009 203598005 204164000 22640007 237836003 237837007 247427007 247488004 248342006 249704008 249808002 253366007 253549006 253930002 254062008 254080004 262285001 263057000 268029009 27272007 27911000 298203008 299236004 299330008 30288003 32958008 385522000 397932003 398151007 398152000 405752007 405773007 415692008 417109008 422065006 48724000 53226007 55033002 57048009 57190000 60389000 63567004 64859006 70142008 71286001 72352009 74969002 77599005 7890003 87979003 88565003 89362005 95427009 95854004 9634000 more

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.

Clinical features from OMIM®:

271640 (Updated 08-Dec-2022)

Search Clinical Trials, NIH Clinical Center for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures.