Brachyolmia Type 3 malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
Aliases & Descriptions for Brachyolmia Type 3:
Orphanet epidemiological data:53
brachyolmia type 3:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy
brachyolmia type 3:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases
UniProtKB/Swiss-Prot:69 Brachyolmia 3: A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM3 is an autosomal dominant form with severe scoliosis with or without kyphosis, and flattened irregular cervical vertebrae.
MalaCards based summary: Brachyolmia Type 3, also known as brachyrachia, is related to brachyolmia type 2 and brachyolmia 4 with mild epiphyseal and metaphyseal changes, and has symptoms including platyspondyly, scoliosis and kyphosis. An important gene associated with Brachyolmia Type 3 is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone and spinal cord, and related mouse phenotypes are craniofacial and homeostasis/metabolism.
Disease Ontology:11 An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.
Description from OMIM:51 113500
Human phenotypes related to Brachyolmia Type 3:63 53 (show all 17)
MalaCards organs/tissues related to Brachyolmia Type 3:35
Bone, Spinal cord
UniProtKB/Swiss-Prot genetic disease variations for Brachyolmia Type 3:69
Clinvar genetic disease variations for Brachyolmia Type 3:5
Search GEO for disease gene expression data for Brachyolmia Type 3.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet