OPTB6
MCID: OST134
MIFTS: 46
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Osteopetrosis, Autosomal Recessive 6 (OPTB6)
Categories:
Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 6:
Characteristics:Orphanet epidemiological data:58
intermediate osteopetrosis
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
based on report of 1 patient (last curated august 2018) younger homozygous sib showed only dense metaphyseal bands in femur HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Neuronal diseases Immune diseases Eye diseases Nephrological diseases Blood diseases Liver diseases
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
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.
MalaCards based summary : Osteopetrosis, Autosomal Recessive 6, also known as autosomal recessive osteopetrosis 6, is related to osteopetrosis and pycnodysostosis. An important gene associated with Osteopetrosis, Autosomal Recessive 6 is PLEKHM1 (Pleckstrin Homology And RUN Domain Containing M1), and among its related pathways/superpathways are Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Interferon-gamma and interferons have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related phenotypes are back pain and recurrent fractures Disease Ontology : 12 An osteopetrosis characterized by autosomal recessive inheritance of that has material basis in mutation in the PLEKHM1 gene on chromosome 17q21.31. UniProtKB/Swiss-Prot : 73 Osteopetrosis, autosomal recessive 6: 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. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. |
Human phenotypes related to Osteopetrosis, Autosomal Recessive 6:58 31 (show all 25)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:611497MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Recessive 6:45
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Drugs for Osteopetrosis, Autosomal Recessive 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Osteopetrosis, Autosomal Recessive 6:40
Bone,
Bone Marrow
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Articles related to Osteopetrosis, Autosomal Recessive 6:(show all 11)
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ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 6:6
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Search
GEO
for disease gene expression data for Osteopetrosis, Autosomal Recessive 6.
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Pathways related to Osteopetrosis, Autosomal Recessive 6 according to GeneCards Suite gene sharing:
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Cellular components related to Osteopetrosis, Autosomal Recessive 6 according to GeneCards Suite gene sharing:
Biological processes related to Osteopetrosis, Autosomal Recessive 6 according to GeneCards Suite gene sharing:(show all 16)
Molecular functions related to Osteopetrosis, Autosomal Recessive 6 according to GeneCards Suite gene sharing:
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