Lysosomal Disorders Listed by Genotype Print E-mail

 

Disorders of complex lipid degradation:

1.       Cholesterol ester storage disease and Wolman disease

2.       Fabry disease

3.       Farber disease

4.       Gaucher disease, Types 1, 2, and 3

5.       GM1 gangliosidosis

6.       GM2 gangliosidosis - Tay-Sachs disease, LOTS 

7.       GM2 gangliosidosis - Sandhoff disease

8.       GM2 gangliosidosis - Activator deficiency

9.       Krabbe disease

10.   Metachromatic leukodystrophy

11.   Niemann-Pick disease types A and B

 

Disorders of glycoprotein degradation:

12.   Aspartylglucosaminuria

13.   Fucosidosis

14.   Galactosialidosis

15.   Alpha-Mannosidosis

16.   Beta-Mannosidosis

17.   Schindler disease

18.   Sialidosis (mucolipidosis I)

 

Mucopolysaccharide storage disorders:

19.   MPS I: Hurler, Hurler-Scheie, Scheie syndrome

20.   MPS II: Hunter

21.   MPS III A: Sanfilippo type A

22.   MPS III B: Sanfilippo type B

23.   MPS III C: Sanfilippo type C

24.   MPS III D: Sanfilippo type D

25.   MPS IVA: Morquio type A

26.   MPS IVB: Morquio type B

27.   MPS VI: Maroteaux-Lamy

28.   MPS VII: Sly syndrome

29.   MPS IX

 

Neuronal Ceroid Lipofuscinoses (NCLs):

30.   Congenital/Late infantile, CLN10/CTSD disease

31.   Infantile CLN1/PPT disease (Santavuori-Haltia)

32.   Late infantile CLN2/TPP1 disease (Jansky-Bielschowsky)

33.   Finnish variant late infantile CLN5 disease

34.   Atypical late infantile/Early juvenile CLN6 disease

35.   Late infantile variant  CLN7 disease

36.   Northern Epilepsy/variant late infantile CLN8 disease

37.   Juvenile CLN3 disease (Batten-Spielmeyer-Vogt)

38.   Adult-onset CLN4 disease (Kufs)

39.   Late onset variants, CLCN6 disease

 

Disorders due to failure of exporting products  from lysosomes:

40.   Cystinosis

41.   Sialic acid storage diseases  - ISSC and Salla disease

42.   Niemann-Pick disease type C 1

43.   Niemann-Pick disease type C 2

 

Deficiencies in pathways of lysosomal enzyme targeting, maturation, or trafficking:

44.   Mucolipidoses II  (I-Cell disease) and Mucolipidosis IIIA (Pseudo-Hurler polydystrophy)  

45.   Mucolipidosis IIIC

46.   Multiple sulfatase deficiency

 

Other diseases of lysosomes:

47.   Glycogen storage disease II (Pompe disease)

48.   Danon disease

49.   Mucolipidosis IV

50.   Pycnodysostosis
 
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