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Congenital systemic disorder
- ... is occasionally found in people with systemic scleroderma, systemic lupus erythematosus, critical congenital heart disease, or Down syndrome.Researchers have also identified nongenetic ...
- ... factor X deficiency, is more common than the congenital form. Acquired factor X deficiency can be caused by other disorders such as severe liver disease or systemic amyloidosis, a condition involving the accumulation of abnormal ...
- ... other autoimmune disorders, including autoimmune thyroid disease and systemic lupus ... In most cases, myasthenia gravis is ...
- ... of these features overlap with those of another disorder called systemic lupus erythematosus (SLE). A feature of SLE that ...
- ... factor XIII is sometimes associated with immune system diseases such as systemic lupus erythematosus and rheumatoid arthritis. In other cases, ... Testing Registry: Factor XIII, A subunit, deficiency of Congenital factor XIII deficiency ... ClinicalTrials.gov FACTOR XIII, A SUBUNIT, DEFICIENCY ...
- ... malabsorption Folic acid transport defect Genetic Testing Registry: Congenital defect of folate absorption Hereditary folate malabsorption National Organization for Rare Disorders (NORD) FOLATE MALABSORPTION, HEREDITARY PubMed Andrews NC. When ...
- ... coloboma Ocular coloboma Uveoretinal coloboma Genetic ... ClinicalTrials.gov MICROPHTHALMIA/COLOBOMA 12; MCOPCB12 COLOBOMA, ...
- ... mutations have also been known to lead to systemic candidiasis in some affected individuals. ... Familial candidiasis can be inherited in different patterns. People with this disorder inherit a tendency to develop recurrent or chronic ...
- ... caused by CARD9 gene mutations can also develop systemic candidiasis, a ... of the disorder, which is sometimes called CARD9 deficiency.Mutations in ...
- ... LY, Dietz HC. Mutations in fibrillin-1 cause congenital scleroderma: stiff skin ... syndrome and Marfan-associated disorders. J Hum Genet. 2007;52(1):1-12. ...