Van Buchem Disease, Type 2 malady
Categories: Genetic diseases, Rare diseases, Bone diseases
Aliases & Descriptions for Van Buchem Disease, Type 2:
van buchem disease, type 2:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases
UniProtKB/Swiss-Prot:67 Van Buchem disease 2: VBCH2 is an autosomal dominant sclerosing bone dysplasia characterized by cranial osteosclerosis, thickened calvaria and cortices of long bones, enlarged mandible and normal serum alkaline phosphatase levels.
MalaCards based summary: Van Buchem Disease, Type 2, is also known as van buchem disease type 2, and has symptoms including mandibular prognathia, thickened cortex of long bones and thickened calvaria. An important gene associated with Van Buchem Disease, Type 2 is LRP5 (LDL Receptor Related Protein 5). Affiliated tissues include bone and cortex.
Description from OMIM:49 607636
MalaCards organs/tissues related to Van Buchem Disease, Type 2:33
UniProtKB/Swiss-Prot genetic disease variations for Van Buchem Disease, Type 2:67
Clinvar genetic disease variations for Van Buchem Disease, Type 2:5
Search GEO for disease gene expression data for Van Buchem Disease, Type 2.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet