Nucleotides

Klinefelter's syndrome is a genetic or chromosomal abnormality in which a male with XY genotype inherits at the minimum or sometimes more than one extra X-chromosome. It results in decreased testosterone levels and increased luteinizing and follicle stimulating hormones, all resulting in male infertility and feminine physical characteristics.

Zellweger Spectrum Disorders or ZSDs are referred to as a group of rare genetic diseases that impairs development of peroxisomes. It impairs the functioning of peroxisomes leading to very-long-chain fatty acids build up and nerve degeneration, causing multiple system complications. 

Marfan syndrome is referred to as a rare genetic condition in which there is a malfunctioned connective tissue affecting an individual’s heart, blood vessels, skeleton, eyes and lungs.

Adrenoleukodystrophy or ALD is a rare genetic disorder caused by mutation in the ABCD1 gene located in the X-chromosome that results in a progressive loss of white matter in the nervous system and degradation of adrenal glands.

Horner’s syndrome named after the Swiss Ophthalmologist Johann Friedrich Horner happens due to error occurring in sympathetic nerve supply towards one side of the face.

Alport syndrome occurs due to mutations in COL4A3,4 and 5 genes that encode for collagen type IV alpha subunits 3, 4 and 5 causing kidney issues like hematuria, glomerulonephritis, inner ear problems like sensorineural hearing loss and eye problems like anterior lenticonus.

Lesch-Nyhan syndrome is an X-linked recessive condition caused by mutation in the HGPRT gene that is located on the X chromosome and it blocks the purine salvage pathway. End result is hyperuricemia and hyperuricosuria leading to kidney stones, gouty arthritis, neurological and behavioral problems.