PDF-httpsmedlineplusgovgeneticshttpsmedlineplusgovgenetics

1 Psoriatic arthritis Description arthritisarthritis in combination with a skin disorder called psoriasis Psoriasis is a chronic inflammatory condition characterized by patches of red irritated ski. 1 HEXA gene hexosaminidase subunit alpha Normal Function The HEXA subunitsubunit beta-hexosaminidase A. Specifically, the protein produced from the HEXA gene forms the alpha subunit of this enzyme 1RARA generetinoic acid receptor alphaNormal FunctionThe RARA gene provides instructions for making a transcription factor called the retinoic acid receptor alpha RARa A transcription factor is a prot 1 Ankylosing spondylitis Description Ankylosing spondylitis is a form of painful, ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. Early symptoms of anky 1 Chronic myeloid leukemia Description Chronic myeloid leukemia is a slow-growing cancer of the blood-forming tissue (bone erythrocyteserythrocytes leukocytesleukocytes( thrombocytes) that are involv 1 Alpers-Huttenlocher syndrome Description Alpers-Huttenlocher syndrome is one of the most severe of a group of conditions called the POLG -related disorders. The conditions in this group feature a 1 Dyskeratosis congenita Description Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and to 1 Terminal osseous dysplasia Description Terminal osseous dysplasia is a disorder primarily involving skeletal abnormalities and certain skin changes. It is a member of a group of related conditions 1 ADAMTS2 gene ADAM metallopeptidase with thrombospondin type 1 motif 2 Normal Function The ADAMTS2 gene provides instructions for making an enzyme that processes several types of procollagen molec 1 Autosomal dominant partial epilepsy with auditory features Description ADPEAFADPEAF form of epilepsy that runs in families. This disorder causes seizures usually auditoryauditory ringing. Some peop 1 Parkinson disease Description Parkinson disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra th 1 X-linked severe combined immunodeficiency Description SCIDSCID immune system that occurs almost exclusively in males. Children with X-linked SCID are prone to recurrent and persistent infections be 1 Hypertension Description Hypertension is abnormally high blood pressure in the arteries, which are the blood vessels that carry blood from the heart to the rest of the body. As the heart beats, it 1 Nail-patella syndrome Description Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between aff 1 Y chromosome infertility Description Y chromosome infertility is a condition that affects the production of sperm and causes male infertility, which means it is difficult or impossible for affected