Search results
Results from the WOW.Com Content Network
Primary familial brain calcification [1] (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, [1] is a rare, [2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare genetic disorder, which affects multiple organs. [ 1 ] [ 2 ] Its hallmarks are widespread progressive calcifications , cysts and abnormalities of the white matter of the brain, usually occurring together with abnormalities of the blood vessels of the retina .
NAA60 was found to be important in brain phosphate homeostasis. It was identified as causative of the genetic disease primary familial brian calcification (PFBC). [9] PFBC is a neurodegenerative disease characterized by bilateral calcification distributed in the basal ganglia, thalamus, and cerebellum.
Mutations in the SLC20A2 gene are associated with idiopathic basal ganglia calcification (Fahr's syndrome).This association suggests that familial idiopathic basal ganglia calcification is caused by changes in phosphate homeostasis, since this gene encodes for PIT-2, an inorganic phosphate transporter.
Additional characteristics include short stature, obesity, developmental delay, and calcification of the basal ganglia in the deep white matter of the brain. [ citation needed ] Type 1a pseudohypoparathyroidism is clinically manifest by bone resorption with blunting of the fourth and fifth knuckles of the hand, most notable when the dorsum of ...
Dystrophic calcinosis cutis is the most prevalent kind of calcification on the skin. [2] The ectopic calcified mass usually consists of amorphous calcium phosphate and hydroxyapatite. [6] Dystrophic calcification is linked to a number of illnesses, such as infections, hereditary diseases, cutaneous neoplasms, and connective tissue diseases. [7]
Familial hypocalciuric hypercalcemia (FHH) is an inherited condition that can cause hypercalcemia, a serum calcium level typically above 10.2 mg/dL; although uncommon. [1] It is also known as familial benign hypocalciuric hypercalcemia (FBHH) where there is usually a family history of hypercalcemia which is mild, a urine calcium to creatinine ratio <0.01, and urine calcium <200 mg/day ...
Generalized arterial calcification of infancy (GACI) is an extremely rare [2] genetic disorder. It is caused by mutations in the ENPP1 gene in 75% of the subjects [ 3 ] or in mutations in the ABCC6 genes in 10% of patients. [ 4 ]