Λυσοσωμική αποθησαυριστική νόσος (άλλοι και μη προσδιορισμένοι τύποι)
Καλύπτει λυσοσωμικές αποθησαυριστικές νόσους χωρίς ειδική αναφορά, όπως η νόσος Farber και άλλες διαταραχές που σχετίζονται με το ASAH1, ελλείψεις προσαπσίνης (PSAP), πολλαπλή ελλειψη σουλφατάσης, μουκοπολυσακχαριδώσεις τύπων IX και X, και η νόσος Dorfman-Chanarin· ο τρόπος κληρονομικότητας διαφέρει ανάλογα με τον υποτύπο, συχνότερα αυτοσωμικός υπολειπόμενος.
Γονίδια που αναλύθηκαν
Γνωστή επίσης ως
disorder of lysosomal enzymes; lysosomal disease; lysosomal disorder; lysosomal storage disorder; lysosome disease; lysosome disorder
Περιλαμβάνει 184 συναφείς υποτύπους ↓Απόκρυψη υποτύπων ↑
- 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
