Metatropic Dysplasia malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
Aliases & Descriptions for Metatropic Dysplasia:
Orphanet epidemiological data:51
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases
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 kniest dysplasia and tauopathy, and has symptoms including long thorax, rough bone trabeculation and depressed nasal bridge. An important gene associated with Metatropic Dysplasia is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone, lung and brain.
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.
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...
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 43)
MalaCards organs/tissues related to Metatropic Dysplasia:33
Bone, Lung, Brain, Adrenal gland, Testis, Endothelial, Monocytes
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