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autosomal recessive osteopetrosis 6

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0012679:  autosomal recessive osteopetrosis 6
GARD:0004156: 
MESH:C566931: 
Orphanet:210110: 
UMLS:C1969093: