SEDCJD
MCID: SPN209
MIFTS: 66
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Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (SEDCJD)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations
MalaCards integrated aliases for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:
Name: Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations
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Characteristics:Orphanet epidemiological data:58
chst3-related skeletal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood; HPO:31
spondyloepiphyseal dysplasia with congenital joint dislocations:
Inheritance autosomal dominant inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Bone diseases Eye diseases
ICD10:
32
33
Orphanet: 58
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Genetics Home Reference :
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CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (congenital). Other bone and joint abnormalities can include an inward- and upward-turning foot (clubfoot), a limited range of motion in large joints, and abnormal curvature of the spine. The features of CHST3-related skeletal dysplasia are usually limited to the bones and joints; however, minor heart defects have been reported in a few affected individuals.
CHST3
CHST3
Researchers have not settled on a preferred name for this condition. It is sometimes known as autosomal recessive Larsen syndrome based on its similarity to another skeletal disorder called Larsen syndrome. Other names that have been used to describe the condition include spondyloepiphyseal dysplasia, Omani type; humero-spinal dysostosis; and chondrodysplasia with multiple dislocations. Recently, researchers have proposed the umbrella term CHST3-related skeletal dysplasia to refer to bone and joint abnormalities resulting from mutations in the CHST3 gene.
CHST3
CHST3
MalaCards based summary : Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations, also known as spondyloepiphyseal dysplasia, is related to spondyloepiphyseal dysplasia tarda, x-linked and spondyloepiphyseal dysplasia, maroteaux type, and has symptoms including waddling gait and respiratory distress. An important gene associated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations is CHST3 (Carbohydrate Sulfotransferase 3), and among its related pathways/superpathways are Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate and Phospholipase-C Pathway. The drugs Pharmaceutical Solutions and Losartan have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and skin, and related phenotypes are hypertelorism and flexion contracture Disease Ontology : 12 A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. NIH Rare Diseases : 52 Spondyloepiphyseal dysplasia (SED) is a group of rare genetic conditions that affect bone growth in the spine, arms, and legs. Other features include problems with vision and hearing, clubfeet , cleft palate , arthritis , and difficulty with breathing as curvature of the spine progresses. There are two main types of SED, spondyloepiphyseal dysplasia congenita (which is present from bith) and spondyloepiphyseal dysplasia tarda (which develops later in childhood or adolescence). Spondyloepiphyseal dysplasia is caused by mutations in genes that are responsible for making proteins that are needed for the creation of bone and cartilage. Most cases are due to a new (de novo ) mutation, although it can be passed down through families. Treatment is aimed at managing the symptoms and associated complications as they arise. OMIM : 56 Although patients with mutations in the CHST3 gene may initially be given varying diagnostic labels, they have similar clinical features, including dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture, and affected individuals may receive an initial clinical diagnosis of Larsen syndrome (see 245600) or humerospinal dysostosis. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disc degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood; at this stage, the clinical features are those previously described as the Omani type of SED (summary by Unger et al., 2010). (143095) KEGG : 36 Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) is also known as SED Omani type. Knees, hip and elbow dislocations are common. Thoracic kyphoscoliosis develops in late childhood. Affected individuals are homozygous for a missense mutation of CHST3 encoding the enzyme chondroitin 6-O-sulfotransferase-1 (C6ST-1). UniProtKB/Swiss-Prot : 73 Spondyloepiphyseal dysplasia with congenital joint dislocations: A bone dysplasia clinically characterized by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood. Wikipedia : 74 Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of... more...
GeneReviews:
NBK62112
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Human phenotypes related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:58 31 (show top 50) (show all 73)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:143095UMLS symptoms related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:waddling gait, respiratory distress MGI Mouse Phenotypes related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:45
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Drugs for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 10)
Interventional clinical trials:(show all 27)
Inferred drug relations via UMLS 71 / NDF-RT 50 :
Cell-based therapeutics:![]() Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:
Embryonic/Adult Cultured Cells Related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:
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Genetic tests related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:
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MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:40
Bone,
Heart,
Skin,
Brain,
Eye,
Spinal Cord,
Kidney
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Articles related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:(show top 50) (show all 577)
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ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:6 (show top 50) (show all 231)
UniProtKB/Swiss-Prot genetic disease variations for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:73
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Search
GEO
for disease gene expression data for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations.
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Pathways related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations according to KEGG:36
Pathways related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations according to GeneCards Suite gene sharing:(show all 11)
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Cellular components related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations according to GeneCards Suite gene sharing:
Biological processes related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations according to GeneCards Suite gene sharing:(show all 16)
Molecular functions related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations according to GeneCards Suite gene sharing:
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