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condition
- ... the formation of tumors. More About This Health Condition Mutations in the RET gene are the most common genetic cause of Hirschsprung disease, a disorder that causes severe constipation or blockage ...
- ... the COL4A4 gene can cause Alport syndrome, a condition characterized by kidney disease, hearing loss, and eye abnormalities. Most of these ... COL4A4 gene can cause a form of the condition called autosomal dominant Alport syndrome. Individuals with this ...
- ... have been identified in people with polycystic kidney disease. These mutations are responsible for about 85 percent of cases of autosomal dominant polycystic kidney disease (ADPKD), which is the most common type of ...
- ... also called mutations) that can cause Parkinson's disease, a condition characterized by progressive problems with movement and balance. ... functional DJ-1 protein leads to Parkinson's disease. Some studies suggest that PARK7 gene variants disrupt ...
- ... have been identified in people with polycystic kidney disease. These mutations are responsible for about 15 percent of all cases of autosomal dominant polycystic kidney disease (ADPKD), which is the most common type of ...
- ... been found to cause hyperkalemic periodic paralysis, a condition that causes episodes of extreme muscle weakness that ... muscle weakness or paralysis. More About This Health Condition At least nine variants in the SCN4A gene ...
- ... CLN3 gene have been found to cause CLN3 disease. CLN3 disease is an inherited disorder that begins in childhood ... primarily affects the nervous system. People with this condition develop worsening vision impairment, intellectual disability, movement problems, ...
- ... have been identified in people with the eye disease familial exudative vitreoretinopathy. This disorder affects the retina ... bone mineral density and other features of a condition called osteoporosis-pseudoglioma syndrome (described below) in some ...
- ... been identified in people with X-linked lymphoproliferative disease (XLP). Some SH2D1A gene mutations impair SAP function. ... properly destroyed by apoptosis. More About This Health Condition DSHP Duncan disease SH2-protein EBVS MTCP1 SAP ...
- ... Atypical hemolytic-uremic syndrome More About This Health Condition At least one mutation in the C3 gene ... found to cause a rare form of kidney disease called C3 glomerulopathy. This disorder damages the kidneys ...
