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Results 1 - 10 of 121 for "X-linked" disease
  1. X-linked lymphoproliferative disease 
    X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood-forming cells that is found almost exclusively in males. More than ...
    https://medlineplus.gov/.../x-linked-lymphoproliferative-disease - Genetics
  2. Chronic granulomatous disease 
    ... recessive chronic granulomatous disease CGD Granulomatous disease, chronic X-linked chronic granulomatous disease Genetic Testing Registry: Granulomatous disease, chronic, autosomal recessive, ...
    https://medlineplus.gov/.../condition/chronic-granulomatous-disease - Genetics
  3. SH2D1A gene 
    ... gene mutations have been identified in people with X-linked lymphoproliferative disease (XLP). Some SH2D1A gene mutations impair SAP function. ... Yeo WC, Rothman J, Koretzky GA, Nichols KE. X-linked lymphoproliferative disease (XLP): a model of impaired anti-viral, anti- ...
    https://medlineplus.gov/genetics/gene/sh2d1a - Genetics
  4. XIAP gene 
    ... mutations have been identified in some people with X-linked lymphoproliferative disease (XLP). These mutations reduce or eliminate production of ... X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood. 2010 Aug 19;116(7):1079-82. ...
    https://medlineplus.gov/genetics/gene/xiap - Genetics
  5. GJB1 gene 
    ... Gene ClinVar Abrams CK, Freidin M. GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous ... Scherer SS. How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease? Brain Res. 2012 Dec 3;1487:198-205. ...
    https://medlineplus.gov/genetics/gene/gjb1 - Genetics
  6. Charcot-Marie-Tooth disease 
    ... TOOTH DISEASE, TYPE 4A; CMT4A CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA; CMTX4 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5 ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  7. Spinal and bulbar muscular atrophy 
    ... linked traits to their sons. Bulbospinal muscular atrophy, X-linked KD Kennedy disease Kennedy spinal and bulbar muscular atrophy Kennedy's ... CR, Allingham-Hawkins DJ, Spriggs EL. Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. Neurology. 2002 Sep 10; ...
    https://medlineplus.gov/.../spinal-and-bulbar-muscular-atrophy - Genetics
  8. IKBKG gene 
    ... for some cases of a condition known as X-linked susceptibility to mycobacterial disease. People with this condition have an increased risk ... life-threatening. The IKBKG gene variants associated with X-linked susceptibility to mycobacterial disease alter the structure of the IKBKG protein. The ...
    https://medlineplus.gov/genetics/gene/ikbkg - Genetics
  9. X-linked dilated cardiomyopathy 
    X-linked dilated cardiomyopathy is a form of heart disease. Dilated cardiomyopathy enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. ...
    https://medlineplus.gov/.../x-linked-dilated-cardiomyopathy - Genetics
  10. Glycogen storage disease type IX 
    Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to break down a complex sugar called glycogen. The different forms ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-ix - Genetics
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