Lizosomų kaupimosi liga (kiti ir nepatikslinti tipai)
Apima lizosomų kaupimosi ligas, kurioms nėra atskiros ataskaitos, pavyzdžiui, Farbero ligą ir kitus su ASAH1 susijusius sutrikimus, prosapozino (PSAP) trūkumus, daugybinį sulfatazių trūkumą, mukopolisacharidozės IX ir X tipus bei Dorfmano-Chanarino ligą. Paveldėjimo tipas priklauso nuo poformio, dažniausiai autosominis recesyvinis.
Tiriami genai
Taip pat žinoma kaip
disorder of lysosomal enzymes; lysosomal disease; lysosomal disorder; lysosomal storage disorder; lysosome disease; lysosome disorder
Apima 184 susijusius poporūšius ↓Slėpti poporūšius ↑
- acid sphingomyelinase deficiency
- adult Krabbe disease
- adult neuronal ceroid lipofuscinosis
- adult neuronal ceroid lipofuscinosis 1
- adult neuronal ceroid lipofuscinosis 5
- alpha-mannosidosis
- alpha-mannosidosis type 1
- alpha-mannosidosis, adult form
- alpha-mannosidosis, infantile form
- alpha-N-acetylgalactosaminidase deficiency
- alpha-N-acetylgalactosaminidase deficiency type 1
- alpha-N-acetylgalactosaminidase deficiency type 2
- alpha-N-acetylgalactosaminidase deficiency type 3
- ASAH1-related sphingolipidosis
- aspartylglucosaminuria
- autosomal recessive cerebellar ataxia with late-onset spasticity
- beta-mannosidosis
- cerebral lipidosis with dementia
- cerebrotendinous xanthomatosis
- ceroid lipofuscinosis, neuronal, 4 (Kufs type)
- ceroid lipofuscinosis, neuronal, 6A
- ceroid lipofuscinosis, neuronal, 6B (Kufs type)
- cholesteryl ester storage disease
- chronic neurovisceral acid sphingomyelinase deficiency
- combined PSAP deficiency
- congenital neuronal ceroid lipofuscinosis
- congenital neuronal ceroid lipofuscinosis 10
- congenital sialidosis type 2
- cystinosis
- Danon disease
- disorder of sialic acid metabolism
- Dorfman-Chanarin disease
- Fabry disease
- familial mucolipidosis
- Farber lipogranulomatosis
- free sialic acid storage disease
- free sialic acid storage disease, infantile form
- fucosidosis
- galactosialidosis
- gangliosidosis
- Gaucher disease
- Gaucher disease due to saposin C deficiency
- Gaucher disease perinatal lethal
- Gaucher disease type I
- Gaucher disease type II
- Gaucher disease type III
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- glycogen storage disease due to acid maltase deficiency, infantile onset
- glycogen storage disease due to acid maltase deficiency, late-onset
- glycogen storage disease II
- glycoprotein storage disease
- glycoproteinosis
- GM1 gangliosidosis
- GM1 gangliosidosis type 1
- GM1 gangliosidosis type 2
- GM1 gangliosidosis type 3
- GM2 gangliosidosis
- GNPTAB-mucolipidosis
- GNPTG-mucolipidosis
- hereditary spastic paraplegia 48
- Hurler syndrome
- Hurler-Scheie syndrome
- idiopathic triglyceride deposit cardiomyovasculopathy
- inborn disorder of lysosomal amino acid transport
- infantile Krabbe disease
- infantile neuronal ceroid lipofuscinosis
- infantile neuronal ceroid lipofuscinosis 1
- infantile neuronal ceroid lipofuscinosis 2
- intermediate severe Salla disease
- juvenile nephropathic cystinosis
- juvenile neuronal ceroid lipofuscinosis
- juvenile neuronal ceroid lipofuscinosis 1
- juvenile neuronal ceroid lipofuscinosis 10
- juvenile neuronal ceroid lipofuscinosis 2
- juvenile neuronal ceroid lipofuscinosis 3
- juvenile neuronal ceroid lipofuscinosis 5
- juvenile neuronal ceroid lipofuscinosis 6
- juvenile sialidosis type 2
- Krabbe disease
- Krabbe disease due to saposin A deficiency
- late infantile neuronal ceroid lipofuscinosis
- late infantile neuronal ceroid lipofuscinosis 1
- late infantile neuronal ceroid lipofuscinosis 10
- late infantile neuronal ceroid lipofuscinosis 2
- late infantile neuronal ceroid lipofuscinosis 5
- late infantile neuronal ceroid lipofuscinosis 6
- late infantile neuronal ceroid lipofuscinosis 8
- late-infantile/juvenile Krabbe disease
- lysosomal acid lipase deficiency
- lysosomal acid phosphatase deficiency
- lysosomal glycogen storage disease
- lysosomal lipid storage disorder
- metachromatic leukodystrophy
- metachromatic leukodystrophy due to saposin B deficiency
- metachromatic leukodystrophy, adult form
- metachromatic leukodystrophy, juvenile form
- metachromatic leukodystrophy, late infantile form
- Morquio syndrome C
- mucolipidosis
- mucolipidosis type II
- mucolipidosis type III, alpha/beta
- mucolipidosis type IV
- mucopolysaccharidosis
- mucopolysaccharidosis type 1
- mucopolysaccharidosis type 2
- mucopolysaccharidosis type 2, attenuated form
- mucopolysaccharidosis type 2, severe form
- mucopolysaccharidosis type 3
- mucopolysaccharidosis type 3A
- mucopolysaccharidosis type 3B
- mucopolysaccharidosis type 3C
- mucopolysaccharidosis type 3D
- mucopolysaccharidosis type 4
- mucopolysaccharidosis type 4A
- mucopolysaccharidosis type 4B
- mucopolysaccharidosis type 6
- mucopolysaccharidosis type 6, rapidly progressing
- mucopolysaccharidosis type 6, slowly progressing
- mucopolysaccharidosis type 7
- mucopolysaccharidosis type 9
- mucopolysaccharidosis, type 10
- mucosulfatidosis
- nephropathic cystinosis
- nephropathic infantile cystinosis
- neuronal ceroid lipofuscinosis
- neuronal ceroid lipofuscinosis 1
- neuronal ceroid lipofuscinosis 10
- neuronal ceroid lipofuscinosis 11
- neuronal ceroid lipofuscinosis 13
- neuronal ceroid lipofuscinosis 15
- neuronal ceroid lipofuscinosis 2
- neuronal ceroid lipofuscinosis 3
- neuronal ceroid lipofuscinosis 5
- neuronal ceroid lipofuscinosis 7
- neuronal ceroid lipofuscinosis 8
- neuronal ceroid lipofuscinosis 8 northern epilepsy variant
- neuronal ceroid lipofuscinosis 9
- neutral lipid storage disease
- neutral lipid storage myopathy
- Niemann-Pick disease
- Niemann-Pick disease type A
- Niemann-Pick disease type B
- Niemann-Pick disease type C
- Niemann-Pick disease type C, adult neurologic onset
- Niemann-Pick disease type C, juvenile neurologic onset
- Niemann-Pick disease type C, late infantile neurologic onset
- Niemann-Pick disease type C, severe early infantile neurologic onset
- Niemann-Pick disease type C, severe perinatal form
- Niemann-Pick disease type E
- Niemann-Pick disease, type C1
- Niemann-Pick disease, type C2
- ocular cystinosis
- oligosaccharidosis
- parkinsonism due to ATP13A2 deficiency
- primary triglyceride deposit cardiomyovasculopathy
- progressive myoclonic epilepsy type 3
- protracted juvenile neuronal ceroid lipofuscinosis 3
- PSAP-related sphingolipidosis
- pycnodysostosis
- Salla disease
- Sandhoff disease
- Sandhoff disease, adult form
- Sandhoff disease, infantile form
- Sandhoff disease, juvenile form
- Scheie syndrome
- sea-blue histiocyte syndrome
- sialidosis
- sialidosis type 1
- sialidosis type 2
- sialuria
- sphingolipidosis
- spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- Tay-Sachs disease
- Tay-Sachs disease AB variant
- Tay-Sachs disease, B variant, adult form
- Tay-Sachs disease, b variant, infantile form
- Tay-Sachs disease, b variant, juvenile form
- Tay-Sachs disease, B1 variant
- triglyceride deposit cardiomyovasculopathy
- triglyceride storage disease
- triglyceride storage disease, type 1
- triglyceride storage disease, type 2
- Wolman disease
- xanthomatosis
