Osteopetrosis, Autosomal Dominant 1 malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Eye diseases, Blood diseases
Aliases & Descriptions for Osteopetrosis, Autosomal Dominant 1:
Orphanet epidemiological data:53
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, Blood diseases
NIH Rare Diseases:47 Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may include fractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures, and life-threatening pancytopenia. In rare cases, there may be neurological impairment or involvement of other body systems. Osteopetrosis may be caused by mutations in at least 10 genes. Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive. Management depends on the specific symptoms and severity and may include vitamin D supplements, various medications, and/or surgery. Adult osteopetrosis requires no treatment by itself, but complications may require intervention. Last updated: 7/20/2016
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 bone marrow.
OMIM:51 The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to... (607634) more...
UniProtKB/Swiss-Prot:69 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.
Human phenotypes related to Osteopetrosis, Autosomal Dominant 1:63 (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
Genetic tests related to Osteopetrosis, Autosomal Dominant 1:
MalaCards organs/tissues related to Osteopetrosis, Autosomal Dominant 1:35
Bone, Bone marrow
UniProtKB/Swiss-Prot genetic disease variations for Osteopetrosis, Autosomal Dominant 1:69
Clinvar genetic disease variations for Osteopetrosis, Autosomal Dominant 1:5
Search GEO for disease gene expression data for Osteopetrosis, Autosomal Dominant 1.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet