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Results 1 - 10 of 12 for cap
  1. Cap myopathy 
    Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle ...
    https://medlineplus.gov/genetics/condition/cap-myopathy - Genetics
  2. CLIP2 gene 
    ... gene provides instructions for making a protein called CAP-Gly domain containing linker protein 2. The protein ... of Williams syndrome. More About This Health Condition CAP-GLY domain containing linker protein 2 CLIP-115 ...
    https://medlineplus.gov/genetics/gene/clip2 - Genetics
  3. Cryopyrin-associated periodic syndromes 
    Cryopyrin-associated periodic syndromes (CAPS) are a group of conditions that have overlapping signs and symptoms and the same genetic cause. The group includes three ...
    https://medlineplus.gov/.../cryopyrin-associated-periodic-syndromes - Genetics
  4. Microcephaly-capillary malformation syndrome 
    ... instead of one copy from each parent. MIC-CAP syndrome Genetic Testing Registry: Microcephaly-capillary malformation syndrome ...
    https://medlineplus.gov/...rocephaly-capillary-malformation-syndrome - Genetics
  5. TGFBI gene 
    ... CSD1 CSD2 CSD3 EBMD kerato-epithelin LCD1 RGD-CAP RGD-containing collagen-associated protein transforming growth factor, ...
    https://medlineplus.gov/genetics/gene/tgfbi - Genetics
  6. TPM2 gene 
    ... gene mutations have been identified in people with cap myopathy, a disorder that leads to muscle weakness ( ... resulting in the muscle weakness that occurs in cap myopathy. More About This Health Condition At least ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics
  7. NLRP3 gene 
    ... been found to cause cryopyrin-associated periodic syndromes (CAPS). CAPS are a group of conditions that have overlapping ... episodes of skin rash, fever, and joint pain. CAPS include three conditions known as familial cold autoinflammatory ...
    https://medlineplus.gov/genetics/gene/nlrp3 - Genetics
  8. ACTA1 gene 
    ... variant has been identified as a cause of cap myopathy. The variant replaces the amino acid methionine ... interfere with the proper assembly of thin filaments. Cap myopathy is characterized by the presence of cap- ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  9. TPM3 gene 
    ... gene mutations have been identified in people with cap myopathy. These mutations replace the protein building block ( ... resulting in the muscle weakness that occurs in cap myopathy. More About This Health Condition At least ...
    https://medlineplus.gov/genetics/gene/tpm3 - Genetics
  10. Antiphospholipid syndrome 
    ... individuals are said to have catastrophic antiphospholipid syndrome (CAPS). CAPS typically affects the kidneys, lungs, brain, heart, and ... 1 percent of individuals with antiphospholipid syndrome develop CAPS. Antiphospholipid syndrome is estimated to affect 1 in ...
    https://medlineplus.gov/genetics/condition/antiphospholipid-syndrome - Genetics
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