Osteopetrosis, Autosomal Dominant 1 malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Eye diseases
Aliases & Descriptions for Osteopetrosis, Autosomal Dominant 1:
Orphanet epidemiological data:51
autosomal dominant osteopetrosis type 1:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy
osteopetrosis, autosomal dominant 1:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases, Eye diseases
OMIM:49 The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to... (607634) more...
MalaCards based summary: Osteopetrosis, Autosomal Dominant 1, also known as autosomal dominant osteopetrosis type 1, is related to osteopetrosis, autosomal recessive 1 and osteopetrosis, autosomal dominant 2, and has symptoms including conductive hearing impairment, abnormality of the vertebral column and headache. An important gene associated with Osteopetrosis, Autosomal Dominant 1 is LRP5 (LDL Receptor Related Protein 5). Affiliated tissues include bone and eye.
NIH Rare Diseases:45 Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or x-linked. the different types of the disorder can also be distinguished by the severity of their signs and symptoms. mutations in at least nine genes cause the various types of osteopetrosis. last updated: 11/14/2011
UniProtKB/Swiss-Prot:67 Osteopetrosis, autosomal dominant 1: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA1 is an autosomal dominant form characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate.
HPO human phenotypes related to Osteopetrosis, Autosomal Dominant 1:(show all 7)
UMLS symptoms related to Osteopetrosis, Autosomal Dominant 1:headache
Drugs for Osteopetrosis, Autosomal Dominant 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Osteopetrosis, Autosomal Dominant 1
MalaCards organs/tissues related to Osteopetrosis, Autosomal Dominant 1:33
UniProtKB/Swiss-Prot genetic disease variations for Osteopetrosis, Autosomal Dominant 1:67
Clinvar genetic disease variations for Osteopetrosis, Autosomal Dominant 1:5
Search GEO for disease gene expression data for Osteopetrosis, Autosomal Dominant 1.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet