Xeroderma pigmentosum type B, XPB, Xeroderma pigmentosum type D, XPD, Tay syndrome, TTD
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Disease
Articles
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trichothiodystrophy
19 November 2003 -
Carney complex
23 June 2003Carney’s complex
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Tangier disease
21 April 2004ABCA1 deficiency WP
Tangier disease is a severe HDL deficiency syndrome characterized by accumulation of cholesterol in tissue macrophages and prevalent atherosclerosis. People with Tangier disease have defective ABCA1 transporters resulting in a greatly reduced ability to transport cholesterol out of their cells.
Clinics
People affected by this condition also have slightly elevated amounts of fat in the blood (mild hypertriglyceridemia) and disturbances in nerve function (...) -
Jeune syndrome
26 May 2004Jeune’s asphyxiating thoracic dystrophy, Jeune dystrophy, asphyxiating thoracic dysplasia, ATDs
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tuberous sclerosis
15 December 2003Tuberous sclerosis complex (TSC), Bourneville tuberous sclerosis
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Fabry disease
24 September 2003Fabry’s disease, Anderson-Fabry disease, Angiokeratoma corporis diffusum, Ruiter-Pompen-Wyers syndrome, Ceramide trihexosidosis, Sweeley-Klionsky disease
Definition: Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism due to mutations in the GLA gene that encodes the lysosomal exoglycohydrolase alpha-galactosidase A (alpha-GalA) (MIM.301500)
Fabry disease is an X-linked generalized progressive debilitating lysosomal storage disorder. The disease usually (...) -
Huntington disease
22 September 2003Huntington’s disease, Huntington’s chorea
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xeroderma pigmentosum
6 March 2004XP
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Angelman syndrome
2 October 2003Angelman’s syndrome
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neonatal citrin deficiency
9 March 2010neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD); neonatal onset type 2 citrullinemia; citrin deficiency, neonatal onset