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Sphingolipidoses

Categorical breakdown of terms falling inder the category of Sphingolipidoses. Sub categories will become more specific in nature to the terms listed for Sphingolipidoses.

Sub-Categories

Terms

Fabry Disease - An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. I...

Farber Lipogranulomatosis - A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous dep...

Gangliosidoses - A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDE...

Gangliosidoses, GM2 - A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) ...

Gangliosidosis, GM1 - An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACT...

Gaucher Disease - An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE)...

Leukodystrophy, Globoid Cell - An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to ...

Leukodystrophy, Metachromatic - An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to ...

Multiple Sulfatase Deficiency Disease - An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containin...

Niemann-Pick Disease, Type A - The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIEST...

Niemann-Pick Disease, Type B - An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation...

Niemann-Pick Disease, Type C - An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL a...

Niemann-Pick Diseases - A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the vis...

Sandhoff Disease - An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOS...

Sandhoff Disease - An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOS...

Sea-Blue Histiocyte Syndrome - A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID...

Sphingolipidoses - A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGO...

Sulfatidosis - A group of inherited metabolic disorders characterized by the intralysosomal accumulation of sulfur-...

Tay-Sachs Disease - An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exagge...

Tay-Sachs Disease, AB Variant - A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startl...