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  2. Primary familial brain calcification - Wikipedia

    en.wikipedia.org/wiki/Primary_familial_brain...

    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.

  3. Progressive familial intrahepatic cholestasis - Wikipedia

    en.wikipedia.org/wiki/Progressive_familial_intra...

    Progressive familial intrahepatic cholestasis (PFIC) is a group of familial cholestatic conditions caused by defects in biliary epithelial transporters. The clinical presentation usually occurs first in childhood with progressive cholestasis. This usually leads to failure to thrive, cirrhosis, and the need for liver transplantation. [citation ...

  4. Generalized arterial calcification of infancy - Wikipedia

    en.wikipedia.org/wiki/Generalized_arterial...

    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 ]

  5. Tumoral calcinosis - Wikipedia

    en.wikipedia.org/wiki/Tumoral_calcinosis

    Hand radiograph showing tumoral calcinosis, PA radiograph of the right hand showing tumoral calcinosis-like metastatic calcification in a patient on dialysis. Dialysis alters calcium phosphate product (>70). Idiopathic tumoral calcinosis is autosomal dominant and is not associated with dialysis. Note the premature arterial calcification which ...

  6. Familial cirrhosis - Wikipedia

    en.wikipedia.org/wiki/Familial_cirrhosis

    Familial cirrhosis is a form of liver disease that is inherited and the liver scarring is not caused by any obvious disease process. This type of cirrhosis is a keratin disease . Damage progresses until function becomes impaired.

  7. SLC20A2 - Wikipedia

    en.wikipedia.org/wiki/SLC20A2

    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.

  8. Hereditary haemochromatosis - Wikipedia

    en.wikipedia.org/wiki/Hereditary_haemochromatosis

    Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...

  9. Lysosomal acid lipase deficiency - Wikipedia

    en.wikipedia.org/wiki/Lysosomal_acid_lipase...

    An ultrasound examination shows accumulation of chalky material (calcification) in the adrenal gland in about half of infants with LAL-D. [2] [4] Complications of LAL-D progress over time, eventually leading to life-threatening problems such as extremely low levels of circulating red blood cells (severe anemia), liver dysfunction or failure ...

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