Month December 2020

Prader-Willi Syndrome

Prader-Will Syndrome is caused by genetic variation. A rare genetic condition, due to deletion of chromosome 15, is located at chr15q11.2. Imprinted genes of NPAP1/C15orf2. NAPAP1 stands for Nuclear Pore Associated Protein 1. Due to a heterozygous deletion of chromosome… Continue Reading →

Angelman syndrome

Angelman syndrome is also known as Happy Puppet Syndrome. Rare disease, the development of the nervous system failed to progress as a normal person. This means Angelman syndrome patient will have abnormal brain function, speech impairment epilepsy, absence of speech… Continue Reading →

Hermansky-Pudlak Syndrome (HPS)

Another form of albinism is also known as Hermansky-Pudlak Syndrome (HPS) by GeneCards. According to the BMJ article, HPS is common in Puerto Rico and the Swiss Alps. The report also indicates the collection of the HPS group was detected… Continue Reading →


Albinism/Albino is a genetic disorder that causes the skin and hair without color or less color. This is due to without or reduce melanin. Pigmented cells in skin and eyes make the pigment called melanin. Sun protection is required because… Continue Reading →


Galactosemia means galactose in the blood. Galactose is a simple sugar generally found in milk, organs, and other living things. Galactosemia is a genetic disorder that the body is unable to process galactose. The person who is diagnosed with galactosemia… Continue Reading →

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