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2. Birt–Hogg–Dubé syndrome - Wikipedia

   en.wikipedia.org/wiki/Birt–Hogg–Dubé_syndrome

   Birt–Hogg–Dubé syndrome (BHD), also Hornstein–Birt–Hogg–Dubé syndrome, Hornstein–Knickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons[1] is a human, adult onset, autosomal dominant genetic disorder caused by a mutation in the folliculin (FLCN) gene. It can cause susceptibility to kidney cancer, renal ...

3. Alport syndrome - Wikipedia

   en.wikipedia.org/wiki/Alport_syndrome

   Alport syndrome. Alport syndrome is a genetic disorder [ 1 ] affecting around 1 in 5,000–10,000 children, [ 2 ] characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. [ 3 ] Alport syndrome can also affect the eyes, though the changes do not usually affect vision, except when changes to the lens occur in later life.

4. WAGR syndrome - Wikipedia

   en.wikipedia.org/wiki/WAGR_syndrome

   WAGR syndrome (also known as WAGR complex, Wilms tumour-aniridia syndrome, aniridia-Wilms tumour syndrome) is a rare genetic syndrome in which affected children are predisposed to develop Wilms' tumour (a tumour of the kidneys), aniridia (absence of the coloured part of the eye, the iris), genitourinary anomalies, and mental retardation. [1]

5. Mitochondrial neurogastrointestinal encephalopathy syndrome

   en.wikipedia.org/wiki/Mitochondrial_neuro...

   Mutations in the TYMP gene result in the loss of function of thymidine phosphorylase activity leading to the onset of MNGIE. [1] Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is a rare autosomal recessive mitochondrial disease. [2] It has been previously referred to as polyneuropathy, ophthalmoplegia, leukoencephalopathy ...

6. Hermansky–Pudlak syndrome - Wikipedia

   en.wikipedia.org/wiki/Hermansky–Pudlak_syndrome

   Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive [1] disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).

7. Hereditary leiomyomatosis and renal cell cancer syndrome

   en.wikipedia.org/wiki/Hereditary_leiomyomatosis...

   H&E stain. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) or Reed's syndrome is rare autosomal dominant disorder associated with benign smooth muscle tumors and an increased risk of renal cell carcinoma. It is characterised by multiple cutaneous leiomyomas and, in women, uterine leiomyomas. It predisposes individuals to renal cell ...