Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 26 for Abnormality of the skeletal system
  1. RMRP gene 
    ... cells. Impaired RNase MRP enzyme complex causes dwarfism, skeletal abnormalities, abnormal immune system function (immune deficiency), elevated cancer risk, sparse hair ...
    https://medlineplus.gov/genetics/gene/rmrp - Genetics
  2. ACP5 gene 
    ... with SPENCDI, increased bone breakdown contributes to the skeletal abnormalities, including irregularly shaped bones and short stature. An overactive immune system leads to increased susceptibility to autoimmune disorders, which ...
    https://medlineplus.gov/genetics/gene/acp5 - Genetics
  3. TRPV4 gene 
    ... TRPV4 channel activity result in the particular skeletal abnormalities associated with ... skeletal disorders associated with TRPV4 gene mutations include autosomal ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  4. POR gene 
    ... that can affect the development of the reproductive system, skeleton, and other parts of the body. The disorder affects sexual development before birth and at puberty, and severe cases are also characterized by skeletal abnormalities.Most of the mutations that cause cytochrome P450 ...
    https://medlineplus.gov/genetics/gene/por - Genetics
  5. TGFB3 gene 
    ... regulation of bone growth, wound healing, and immune system function. ... heart defects, and skeletal deformities. The TGFB3 gene mutations that cause this ...
    https://medlineplus.gov/genetics/gene/tgfb3 - Genetics
  6. CRLF1 gene 
    ... loss of this signaling pathway during sympathetic nervous system development ... and skeletal abnormalities. However, little is known about how a lack ...
    https://medlineplus.gov/genetics/gene/crlf1 - Genetics
  7. CLCF1 gene 
    ... loss of this signaling pathway during sympathetic nervous system development ... and skeletal abnormalities. However, little is known about how a lack ...
    https://medlineplus.gov/genetics/gene/clcf1 - Genetics
  8. TYROBP gene 
    ... TYROBP-TREM2 complex also activates cells in the skeletal system and in the brain and spinal cord (central nervous system). In the skeletal system, the complex is found in osteoclasts, which are ...
    https://medlineplus.gov/genetics/gene/tyrobp - Genetics
  9. TREM2 gene 
    ... TYROBP-TREM2 complex also activates cells in the skeletal system and in the brain and spinal cord (central nervous system). In the skeletal system, the complex is found in osteoclasts, which are ...
    https://medlineplus.gov/genetics/gene/trem2 - Genetics
  10. STAT3 gene 
    ... cellular processes that promote allergic reactions. In the skeletal system, the STAT3 protein is involved in the formation ... and other immune system cells. The resulting immune system abnormalities make people with AD-HIES highly susceptible to ...
    https://medlineplus.gov/genetics/gene/stat3 - Genetics
previous · 1 · 2 · 3 · next