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 13 for respiratory failure
  1. TTN gene 
    ... been found to cause hereditary myopathy with early respiratory failure (HMERF), an inherited disease that affects muscles used ... Hackman P, Udd B. Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry. ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics
  2. MAPT gene 
    ... palsy. These disorders include corticobasal degeneration, tauopathy with respiratory failure, and a form of dementia with seizures (epilepsy). ... English kindred with a novel recessive tauopathy and respiratory failure. Ann Neurol. 2003 Nov;54(5):682-6. ...
    https://medlineplus.gov/genetics/gene/mapt - Genetics
  3. IGHMBP2 gene 
    ... an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy. Most mutations that cause this condition change single protein building blocks (amino acids) in the IGHMBP2 protein and ... with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster ...
    https://medlineplus.gov/genetics/gene/ighmbp2 - Genetics
  4. COL11A2 gene 
    ... are stillborn or die shortly after birth from respiratory failure, although some have lived into childhood.The COL11A2 ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  5. COL11A1 gene 
    ... are stillborn or die shortly after birth from respiratory failure, although some have lived into childhood.Some cases ...
    https://medlineplus.gov/genetics/gene/col11a1 - Genetics
  6. UBA1 gene 
    ... muscles that control breathing often causes death from respiratory failure in early childhood.UBA1 gene variants that cause ...
    https://medlineplus.gov/genetics/gene/uba1 - Genetics
  7. CTSD gene 
    ... usually present at birth and include muscle rigidity, respiratory failure, and severe seizures; death typically occurs in infancy. ...
    https://medlineplus.gov/genetics/gene/ctsd - Genetics
  8. PRKAG2 gene 
    ... signaling within the heart. These abnormalities lead to respiratory distress and heart failure early in life. The mutation responsible for this ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  9. BCS1L gene 
    ... A, Rustin P, Rotig A. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet. 2001 Sep;29(1):57-60. ...
    https://medlineplus.gov/genetics/gene/bcs1l - Genetics
  10. NPHP1 gene 
    ... base of cilia in cells of the kidneys, respiratory tract, and the light-sensitive ... leads to a life-threatening failure of kidney function (end-stage renal disease or ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
previous · 1 · 2 · next