TNFRSF11A-related autosomal recessive osteopetrosis is a rare genetic bone disease. It happens when a child inherits two faulty copies of the TNFRSF11A gene, which makes a receptor called RANK. RANK ...
Autosomal recessive osteopetrosis type 7 (OPTB7) caused by mutations in TNFRSF11A is a very rare, inherited bone disease. It happens when both copies of the TNFRSF11A gene carry harmful changes. This ...
Osteoclast-poor osteopetrosis with hypogammaglobulinemia is a very rare genetic disorder in which bones become too dense and hard because the body cannot make or activate osteoclasts—the cells that ...
Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia is a genetic bone and immune disorder. “Osteopetrosis” means the bones look very dense on X-rays because they are not ...
Autosomal recessive osteopetrosis-7 is a severe, infant-onset, osteoclast-poor form of osteopetrosis caused by biallelic pathogenic variants in TNFRSF11A (RANK). Children typically present with very ...
PLEKHM1-related autosomal recessive osteopetrosis is a rare genetic bone disease. It happens when a child inherits two non-working copies of the PLEKHM1 gene, one from each parent. PLEKHM1 is a ...
Autosomal recessive osteopetrosis type 6 is a rare inherited bone disease. the bones look very dense on x-ray, but they are brittle and can break easily. the main problem is in a special bone cell ...
Autosomal recessive osteopetrosis, intermediate form, is a rare genetic bone disorder. Bones become abnormally dense and heavy, but they are also brittle. The problem starts because bone-resorbing ...
Autosomal recessive osteopetrosis 6 is a rare, inherited bone condition. The bones become abnormally dense and hard, but at the same time brittle and fragile. This happens because the bone “recycling ...
OSTM1-related autosomal recessive osteopetrosis is a very rare, inherited bone disease. It happens when a child inherits two non-working copies of a gene called OSTM1. This gene helps special bone ...
Autosomal recessive osteopetrosis type 5 is a very rare, severe bone disease that starts in early infancy. It happens when both copies of the OSTM1 gene have harmful changes (mutations). Because of ...
Autosomal recessive osteopetrosis-5 (ARO5) is a very severe, inherited bone disease that begins in infancy. It is caused by harmful changes (mutations) in a gene called OSTM1. In healthy bone, ...
TNFSF11-related autosomal recessive osteopetrosis is a very rare bone disease present from birth. It happens when both copies of the TNFSF11 gene do not work as they should. The TNFSF11 gene makes a ...
TNFSF11 autosomal recessive malignant osteopetrosis is a severe genetic bone disease that starts in infancy. The TNFSF11 gene makes a signal called RANKL. RANKL tells early bone-eating cells ...
Autosomal recessive osteopetrosis 2 is a rare, inherited bone disease where bones become very dense and “stone-like.” The density looks strong on x-rays, but the bones are actually brittle and break ...
TCIRG1-related malignant osteopetrosis is a severe, inherited bone disease that usually starts in the first months of life. In this condition, bone-eating cells (called osteoclasts) cannot dissolve ...
Autosomal recessive osteopetrosis 1 (ARO1) is a very rare genetic bone disease that starts in infancy. In this condition, bone-eating cells (called osteoclasts) do not work properly. Because these ...
Autosomal recessive osteopetrosis is a rare genetic bone disease. The body makes too much bone and does not remove old bone well. This happens because bone-eating cells (osteoclasts) are missing or ...
TMEM126A-related optic atrophy (with or without extra-ocular features) is a rare inherited eye and nerve condition. It mainly damages the optic nerves—the “cables” that carry visual signals from the ...
Autosomal recessive optic atrophy, OPA7 type, is a rare inherited eye and nerve condition that mainly damages the optic nerves—the “cables” that carry visual signals from the eyes to the brain. ...
