Osteoglophonic Dysplasia malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
Aliases & Descriptions for Osteoglophonic Dysplasia:
Orphanet epidemiological data:51
Inheritance: Autosomal dominant
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases
Genetics Home Reference:23 Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, dwarfism, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed out (-glophonic) areas that appear as holes on x-ray images.
MalaCards based summary: Osteoglophonic Dysplasia, also known as osteoglophonic dwarfism, is related to mediastinitis and chordoma, and has symptoms including reduced number of teeth, short stature and abnormal form of the vertebral bodies. An important gene associated with Osteoglophonic Dysplasia is FGFR1 (Fibroblast Growth Factor Receptor 1). Affiliated tissues include bone, testes and bone marrow.
UniProtKB/Swiss-Prot:67 Osteoglophonic dysplasia: Characterized by craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge, as well as by rhizomelic dwarfism and nonossifying bone lesions. Inheritance is autosomal dominant.
Description from OMIM:49 166250
Diseases related to Osteoglophonic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:(show all 14)
Graphical network of diseases related to Osteoglophonic Dysplasia:
Symptoms by clinical synopsis from OMIM:166250
Clinical features from OMIM:166250
Symptoms:51 (show all 20)
HPO human phenotypes related to Osteoglophonic Dysplasia:(show all 62)
MalaCards organs/tissues related to Osteoglophonic Dysplasia:33
Bone, Testes, Bone marrow, Lung
Articles related to Osteoglophonic Dysplasia:
UniProtKB/Swiss-Prot genetic disease variations for Osteoglophonic Dysplasia:67
Clinvar genetic disease variations for Osteoglophonic Dysplasia:5
Search GEO for disease gene expression data for Osteoglophonic Dysplasia.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet