kemp high yield

Systemic lupus erythematosus antibodies

anti-dsDNA and anti-sm

non specific U1-RNP

Systemic sclerosis antibodies

DNA-topisomerase

not specific RNA polymerase III

Sjorgen syndrome antibodies

La/SS-b

not specific Ro SS-A

Autoimmune myositis antibodies

histidyl aminoacyl-tRNA synthetase, Mi-2 nuclear antigen

not specific Jo-1, MDA5

Rheumatoid arthritis antibodies

CCP

not specific- rheumatoid factor

Marfan syndrome inheritance, protein, clinical features

AD, Fibrillin (FBN1 gene), aortic root dilation associated with dissection, ectopia lentis, arachnodactyly, tall, mitral valve prolapse

Neurofibromatosis type I inheritance, protein, clinical features

AD, Neurofibromin, neurofibromas, cafe au lait spots, Lisch nodules

Neurofibromatosis type II inheritance, protein, clinical features

AD, Merlin, meningiomas

Familial hypercholesterolemia inheritance, protein, clinical features

AD, LDL receptor, atherosclerosis with associated conditions, often myocardial infarcts

Ehlers-Danlos inheritance, protein, clinical features

AD, Collagen, hypermobility, vascular abnormalities

Hereditary spherocytosis inheritance, protein, clinical features

AD, Ankyrin and spectrin (structural proteins), splenomegaly, potential for hypoxia

Adult polycystic kidney disease inheritance, protein, clinical features

AD, Polycystin-I (PKD-1), cystic kidneys, early renal failure, hypertension

Huntington chorea inheritance, protein/mutation, clinical features

AD, CAG repeats, chorea, dementia, suicide risk

Sickle cell anemia inheritance, protein, clinical features

AR, Hemoglobin (glutamic acid to valine), sickle cell crises, acute chest syndrome, auto infarction of spleen

Alpha and beta thalassemias inheritance, protein, clinical features

AR, Hemoglobin, severity varies from in-utero demise to asymptomatic depending on number of genes involved

Cystic fibrosis inheritance, protein, clinical features

AR, CFTR, pulmonary infections, pancreatic insufficiency, meconium ileus

Phenylketonuria inheritance, protein, clinical features

AR, Phenylalanine hydroxylase, impairment of brain development

Glycogen storage disorder inheritance, protein, clinical features

AR, Various, affects liver or skeletal muscle, Pompe disease affects heart

Galactosemia inheritance, protein, clinical features

AR, Galactose-1-phosphate uridyltransferase, cirrhosis, cataracts, aminoaciduria, E coli septicemia

Crest syndrome

type of systemic sclerosis, calcinosis, raynaud, esophageal dysmotility, sclerodactyly, telangiectasia

Systemic sclerosis

DNA topoisomerase, tight skin, thicken dermis, fibrosis

Mixed connective tissue disease antibodies

U1 ribonucleoprotein

Abeta2 microglobulin

long term hemodialysis

AL protein

immunoglobulin light chains, associated with multiple myeloma