Sed, Maroteaux Type malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
Aliases & Descriptions for Sed, Maroteaux Type:
Orphanet epidemiological data:52
spondyloepiphyseal dysplasia, maroteaux type:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
sed, maroteaux type:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases
NIH Rare Diseases:46 Spondyloepiphyseal dysplasia (sed) maroteaux type is a rare skeletal dysplasia that is characterized by short stature beginning in infancy, short, stubby hands and feet, and genu valgum (knock knees). in addition to these physical characteristics, individuals with sed maroteaux type have some common radiographic findings, including platyspondyly (flattened vertebral bodies in the spine), abnormalities of the pelvis and severe brachydactyly (short fingers and toes). intelligence is generally normal and there is no clouding of the cornea, which distinguishes sed maroteaux type from other forms of spondyloepiphyseal dysplasia. sed maroteaux type is caused by mutations in the trpv4 gene and is inherited any an autosomal dominant fashion. last updated: 7/8/2013
MalaCards based summary: Sed, Maroteaux Type, also known as spondyloepiphyseal dysplasia, maroteaux type, is related to sed congenita and spondyloepiphyseal dysplasia with congenital joint dislocations, and has symptoms including abnormality of the eye, platyspondyly and spondyloepiphyseal dysplasia. An important gene associated with Sed, Maroteaux Type is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone and eye.
UniProtKB/Swiss-Prot:68 Spondyloepiphyseal dysplasia Maroteaux type: A clinically variable spondyloepiphyseal dysplasia with manifestations limited to the musculoskeletal system. Clinical features include short stature, brachydactyly, platyspondyly, short and stubby hands and feet, epiphyseal hypoplasia of the large joints, and iliac hypoplasia. Intelligence is normal.
Description from OMIM:50 184095
MalaCards organs/tissues related to Sed, Maroteaux Type:34
Clinvar genetic disease variations for Sed, Maroteaux Type:5
Search GEO for disease gene expression data for Sed, Maroteaux Type.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet