Metatropic Dysplasia malady
Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
Aliases & Descriptions for Metatropic Dysplasia:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases
Characteristics (Orphanet epidemiological data):51
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age
NIH Rare Diseases:45 Metatropic dwarfism is a severe skeletal dysplasia characterized by extremely small stature with short arms and legs. other characteristics of this disorder are a narrow thorax, short ribs, and kyphoscoliosis (backward and sideways curvature of the spinal column) which develops into short trunk dwarfism. this condition, caused by mutations in the trpv4 gene, may be inherited in either an autosomal dominant or autosomal recessive manner. treatment is symptomatic and supportive. last updated: 1/12/2010
MalaCards based summary: Metatropic Dysplasia, also known as metatropic dwarfism, is related to spondylometaphyseal dysplasia, kozlowski type and dwarfism, and has symptoms including high forehead, abnormality of the ribs and narrow chest. An important gene associated with Metatropic Dysplasia is TRPV4 (Transient Receptor Potential Cation Channel, Subfamily V, Member 4). Affiliated tissues include bone and lung.
Genetics Home Reference:23 Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is derived from the Greek word "metatropos," which means "changing patterns." This name reflects the fact that the skeletal abnormalities associated with the condition change over time.
OMIM:49 Metatropic dysplasia (MD) is characterized by short limbs with limitation and enlargement of joints and usually severe... (156530) more...
UniProtKB/Swiss-Prot:67 Metatropic dysplasia: A severe spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis. Radiologic features include severe platyspondyly, severe metaphyseal enlargement and shortening of long bones.
Symptoms by clinical synopsis from OMIM:156530
Clinical features from OMIM:156530
Symptoms:51 (show all 26)
HPO human phenotypes related to Metatropic Dysplasia:(show all 44)
MalaCards organs/tissues related to Metatropic Dysplasia:33
Articles related to Metatropic Dysplasia:(show all 22)
UniProtKB/Swiss-Prot genetic disease variations for Metatropic Dysplasia:67 (show all 17)
Clinvar genetic disease variations for Metatropic Dysplasia:5 (show all 12)
Search GEO for disease gene expression data for Metatropic Dysplasia.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet