What is ENPP1 deficiency?
Mutations in the ENPP1 gene, also known as ENPP1 Deficiency, can cause an inability to regulate pyrophosphate levels in the blood. This disorder can manifest as either Generalized Arterial Calcification of Infancy (GACI) Type 1 or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2).
Where is ENPP1 located?
plasma membranes
Structures of different cyclic dinucleotides: c-di-GMP, c-di-AMP, 2 3 -cGAMP, and 3 3 -cGAMP. ENPP1 is located on plasma membranes and ER lumen [43].
What is ABCC6 deficiency?
ABCC6 deficiency is the primary cause for chronic and acute forms of ectopic mineralization described in diseases such as pseudoxanthoma elasticum (PXE), β-thalassemia, and generalized arterial calcification of infancy (GACI) in humans and dystrophic cardiac calcification (DCC) in mice.
What is GACI disease?
Generalized arterial calcification of infancy (GACI) is a rare, genetic disease that affects the circulatory system in general, and the large and medium sized arteries in particular, throughout the body.
What protein does the ABCC6 gene code for?
Normal Function The ABCC6 gene provides instructions for making a protein called multidrug resistance-associated protein 6 (MRP6, also known as the ABCC6 protein). This protein is found primarily in the liver and kidneys, with small amounts in other tissues such as the skin, stomach, blood vessels, and eyes.
What is PXE disease?
Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Elastic fibers are a component of connective tissue, which provides strength and flexibility to structures throughout the body.
Can babies get calcium deposits?
From the Pediatric Service of the Parkchester General Hospital. METASTATIC calcification may be defined as a deposition of calcium or calcium salts in abnormal locations in the body. This manifestation is quite uncommon in children and is especially unusual in the newborn.
What is arterial calcinosis?
Arterial calcification is a gradual and progressive process that is seen in most people after the 6th decade of life. This results in a reduction of arterial elasticity and an increased propensity for morbidity and mortality due to the impairment of the cardiovascular system’s hemodynamics.
Is PXE genetic?
PXE is inherited in a recessive pattern. Recessive genetic disorders occur when an individual inherits an abnormal gene from each parent. If an individual receives one normal gene and one abnormal gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.
Is PXE an autoimmune disease?
Pseudoxanthoma elasticum (PXE) is a rare, inherited disorder of the connective tissue. Possible association of autoimmune thyroiditis and PXE has been suggested, but reports of other autoimmune diseases complicating PXE are rare.
Does EIF mean Down syndrome?
An echogenic intracardial focus (EIF) is an ultrasound „soft marker“ for aneuploidy, most commonly for Down syndrome and trisomy 18. An EIFs are found in about 5% of all fetuses during second trimester sonography. An EIF seems like a small bright spot in the baby’s heart ventricle.
How can you tell Down syndrome from ultrasound?
An ultrasound can detect fluid at the back of a fetus’s neck, which sometimes indicates Down syndrome. The ultrasound test is called measurement of nuchal translucency. During the first trimester, this combined method results in more effective or comparable detection rates than methods used during the second trimester.