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Results 1 - 10 of 30 for Cartilage development disorder
  1. SLC26A2 gene 
    ... in people with atelosteogenesis type 2, another severe disorder of cartilage and bone development. Affected individuals typically have a mutation in one ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  2. COL9A2 gene 
    ... shown to cause dominant multiple epiphyseal dysplasia, a disorder of cartilage and bone development that primarily affects the ends of the long ...
    https://medlineplus.gov/genetics/gene/col9a2 - Genetics
  3. COL9A1 gene 
    ... found to cause dominant multiple epiphyseal dysplasia, a disorder of cartilage and bone development that primarily affects the ends of the long ...
    https://medlineplus.gov/genetics/gene/col9a1 - Genetics
  4. ARSL gene 
    ... responsible for X-linked chondrodysplasia punctata 1, a disorder of bone and cartilage development that occurs almost exclusively in males. Between 60 ...
    https://medlineplus.gov/genetics/gene/arsl - Genetics
  5. COL2A1 gene 
    ... of type II collagen can impair bone and cartilage development, causing the signs ... hypochondrogenesis, a severe disorder of bone growth characterized by a small body, ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  6. FLNB gene 
    ... differentiation) of chondrocytes and for the ossification of cartilage. At least seven FLNB gene mutations have been identified that cause atelosteogenesis type 1, a disorder that affects the development of bones throughout the body. The mutations change ...
    https://medlineplus.gov/genetics/gene/flnb - Genetics
  7. ACAN gene 
    ... bone damage (lesions) caused by the detachment of cartilage and some of ... joint disorder called osteoarthritis.The ACAN gene variant associated with ...
    https://medlineplus.gov/genetics/gene/acan - Genetics
  8. TRIP11 gene 
    ... is later converted to bone, except for the cartilage that continues to cover and protect the ... rare disorder of bone development is characterized by extremely short limbs, a narrow ...
    https://medlineplus.gov/genetics/gene/trip11 - Genetics
  9. TGFB1 gene 
    ... regulate the formation and growth of bone and cartilage, a tough, flexible tissue that ... Camurati-Engelmann disease. This condition is characterized by abnormally thick bones ( ...
    https://medlineplus.gov/genetics/gene/tgfb1 - Genetics
  10. RMRP gene 
    ... unknown, impairment of this function likely disrupts skeletal development, leading to ... 90 percent of cases of this disorder result from a mutation in which the DNA ...
    https://medlineplus.gov/genetics/gene/rmrp - Genetics
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