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Results: 3

1.

Multiple sclerosis susceptibility

Multiple sclerosis (MS) is an inflammatory, demyelinating, neurodegenerative disorder of the central nervous system (CNS) of unknown etiology. The peak onset is between age 20 and 40 years; it may develop in children and has also been identified in persons over age 60 years. Women are affected approximately twice as often as men. The most common clinical signs and symptoms, occurring in isolation or in combination, include sensory disturbance of the limbs (~30%), partial or complete visual loss (~15%), acute and subacute motor dysfunction of the limbs (~13%), diplopia (7%), and gait dysfunction (5%). The course may be relapsing-remitting or progressive, severe or mild, and may involve the entire neuroaxis in a widespread fashion or predominantly affect the spinal cord and optic nerves. The four clinical phenotypes of MS are: relapsing-remitting MS (RR-MS) (initially occurring in more than 80% of individuals with MS); primary progressive MS (PP-MS) (occurring in 10%-20% of individuals with MS); progressive relapsing MS (PR-MS) (a rare form); and secondary progressive MS (SP-MS), to which approximately half of all persons diagnosed with RR-MS convert within a decade after the initial diagnosis. [from GeneReviews]

MedGen UID:
429785
Concept ID:
CN031763
Disease or Syndrome
2.

Sarcoidosis 1

Sarcoidosis is a granulomatous disorder associated with an accumulation of CD4+ T cells and a Th1 immune response. In childhood, 2 distinct types of sarcoidosis have been described (Shetty and Gedalia, 1998). Usually the disease is detected in older children by chest radiography, and the clinical manifestations are characterized by a classic triad of lung, lymph node, and eye involvement, similar to those in adults. In contrast, early-onset sarcoidosis (EOS; 609464), which usually appears in those younger than 4 years of age, is rare and has a distinct triad of skin, joint, and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, EOS is progressive and in many cases causes severe complications, such as blindness, joint destruction, and visceral involvement. [from OMIM]

MedGen UID:
394568
Concept ID:
C2697310
Finding
3.

Rheumatoid arthritis

Rheumatoid arthritis is an inflammatory disease, primarily of the joints, with autoimmune features and a complex genetic component. [from OMIM]

MedGen UID:
2078
Concept ID:
C0003873
Disease or Syndrome

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