MalaCards: The human disease database

MalaCards is an integrated database of human maladies and their annotations, modeled on the architecture and richness of the popular GeneCards database of human genes.

The MalaCards disease and disorders database is organized into "disease cards", each integrating prioritized information, and listing numerous known aliases for each disease, along with a variety of annotations, as well as inter-disease connections, empowered by the GeneCards relational database, searches, and GeneAnalytics set-analyses. Annotations include: symptoms, drugs, articles, genes, clinical trials, related diseases/disorders and more. An automatic computational information retrieval engine populates the disease cards, using remote data, as well as information gleaned using the GeneCards platform to compile the disease database. The MalaCards disease database integrates both specialized and general disease lists, including rare diseases, genetic diseases, complex disorders and more.


On this site, you can search for 'retinitis pigmentosa', and see the following:

Picture description: Above picture is a sample MalaCard.


MedlinePlus Genetics : 42 Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.The first sign of retinitis pigmentosa is usually a loss of night vision, which becomes apparent in childhood. Problems with night vision can make it difficult to navigate in low light. Later, the disease causes blind spots to develop in the side (peripheral) vision. Over time, these blind spots merge to produce tunnel vision. The disease progresses over years or decades to affect central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In adulthood, many people with retinitispigmentosa become legally blind.The signs and symptoms of retinitis pigmentosa are most often limited to vision loss. When the disorder occurs by itself, it is described as nonsyndromic. Researchers have identified several major types of nonsyndromic retinitis pigmentosa, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked.Less commonly, retinitis pigmentosa occurs as part of syndromes that affect other organs and tissues in the body. These forms of the disease are described as syndromic. The most common form of syndromic retinitis pigmentosa is Usher syndrome, which is characterized by the combination of vision loss and hearing loss beginning early in life. Retinitis pigmentosa is also a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa (NARP).

MalaCards based summary : Retinitis Pigmentosa, also known as rp, is related to cone-rod dystrophy 2 and usher syndrome. An important gene associated with RetinitisPigmentosa is CRX (Cone-Rod Homeobox), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and The phototransduction cascade. The drugs Tocopherol and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include Eye, and related phenotypes are intellectual disability and nystagmus


Click here to read more.