Protein S deficiency is a disorder that increases the risk of developing blood clots. People with protein S deficiency are at risk of developing a type of clot ...

... disease Congenital betalipoprotein deficiency syndrome Microsomal triglyceride transfer protein deficiency disease MTP deficiency National Organization for Rare Disorders (NORD) ...

... the PROS1 gene have been found to cause protein S deficiency. People with this condition have an increased risk ... impair the function of protein S. Individuals with protein S deficiency may not have enough functional protein S to ...

... on PubMed Hamvas A. Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation. Semin Perinatol. 2006 Dec; ...

... consequences of mutations to the alpha-tocopherol transfer protein associated with the neurodegenerative disease ataxia with vitamin E deficiency. Biochemistry. 2013 Jun 18;52(24):4264-73. ...

... variant metachromatic leukodystrophy) prosaptides SAP1 SAP2 (sphingolipid activator protein-2) SAP_HUMAN SGP-1 (sulfoglycoprotein-1) Tests of PSAP PubMed PROSAPOSIN; PSAP GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY; GDSAPC COMBINED SAPOSIN DEFICIENCY; PSAPD KRABBE DISEASE, ATYPICAL, ...

... caused by other disorders such as severe liver disease or systemic amyloidosis, a condition involving the accumulation of abnormal proteins called amyloids. Acquired factor X deficiency can also be caused by certain drugs such ...

... gene cause a more severe disorder called Tangier disease (described below).Most ABCA1 gene variants that cause familial HDL deficiency change single protein building blocks (amino acids) in the ABCA1 protein. ...

... diffuse, metachromatic form Cerebroside sulphatase deficiency disease Greenfield disease Metachromatic leukoencephalopathy MLD Sulfatide ... National Organization for Rare Disorders (NORD) ...