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| DISEASES (in alphabetical order) | CLINICAL PHENOTYPE | ENZYNE DEFICIENCY | CHROMOSOME LOCATION | BONE MARRO TRANSPLANTATION | ANIMAL MODEL | HUMAN ERT | AUSTRALIAN PREVALENCE | CARRIER FREQUENCY |
|---|---|---|---|---|---|---|---|---|
|
Mucolipidosis type I |
Sialidosis types I and II |
Neuaminidase |
6p21.3 |
1 in 1027 | ||||
|
Mucolipidosis types II and III |
Phosphotransferase |
4q.21-23 |
Benefit reported for one ML II patient |
Cat | 1 in 285 | |||
|
Mucolipidosis type IIIC |
Phosphotransferase y-subunit |
16p |
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|
Mucolipidosis type IV |
|
Unknown |
19p13.2-p13.3 |
|||||
|
Mucopolysaccharidosis type I |
a-L-Iduronidase |
4p16.3 |
May benefit presymptomatic patients |
Cat, Dog, Mouse |
Trials in progress |
1 in 88,000 |
1 in 148 | |
|
Mucopolysaccharidosis type II |
Iduronate-2-sulphatase |
Xq27--28 |
May benefit presymptomatic patients |
Mouse, Dog |
Trials in progress |
1 in 136,000 |
1 in 136,000 | |
|
Mucopolysaccharidosis type IIIA |
Heparan-N-sulphatase |
17q25.3 |
Not helpful in symptomatic patients |
Mouse, Dog |
1 in 114,000 |
1 in 169 | ||
|
Mucopolysaccharidosis type IIIB |
a-N-Acetylglucosaminidase |
17q21 |
Not helpful in symptomatic patients |
Mouse, Emu |
1 in 211,000 |
1 in 230 | ||
|
Mucopolysaccharidosis type IIIC |
AcetylCoA:N-acetyltransferase |
unknown |
Not helpful in symptomatic patients |
1 in 1,407,000 |
1 in 593 | |||
|
Mucopolysaccharidosis type IIID |
N-Acetylglucosamine 6-sulphatase |
12q14 |
Not helpful in symptomatic patients |
Goat |
1 in 1,056,000 |
1 in 514 | ||
|
Mucopolysaccharidosis type IVA |
Galactose 6-sulphatase |
16q24.3 |
Not helpful |
1 in 169,000 |
1 in 206 | |||
|
Mucopolysaccharidosis type IVB |
b-Galactosidase |
3p21-3pter |
Not helpful |
|
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|
Mucopolysaccharidosis type VI |
N-Acetylglucosamine 4-sulphatase |
5q11-13 |
May benefit
|
Cat, Rat, Dog, Mouse |
Trials in progress |
1 in 235,000 |
1 in 242 | |
|
Mucopolysaccharidosis type VII |
b-Glucuronidase |
7q21.1.11 |
Dog, Mouse, Cat |
1 in 2,111,000 |
1 in 726 | |||
|
Mucopolysaccharidosis type IX |
|
hyaluronoglucosaminidase-1 | 3p21.3-p21.2 | |||||
| RELATED DISEASES (in alphabetical order) | CLINICAL PHENOTYPE | ENZYNE DEFICIENCY | CHROMOSOME LOCATION | BONE MARRO TRANSPLANTATION | ANIMAL MODEL | HUMAN ERT | AUSTRALIAN PREVALENCE | CARRIER FREQUENCY |
|
Cholesterol ester storage disease |
Acid lipase |
10q24-25 |
1 in 528,000 |
1 in 363 | ||||
|
Fabry disease |
Fabry disease |
a-Galactosidase A |
Xq22 |
Mouse |
Europe, in clinical practice |
1 in 117,000 |
1 in 117,000 | |
|
Farber Lipogranulomatosis |
Acid ceramidase |
8p21.3-p22 |
Not helpful in severe forms |
|||||
|
Fucosidosis |
a-L-Fucosidase |
1p34 |
Benefit in dog model |
Dog |
>1 in 2,000,000 |
|||
|
Galatosialidosis types I and II |
Protective protein |
20q13.1 |
Sheep | |||||
|
Gaucher disease types I, II and III |
Glucocerebrosidase (b-glucosidase) |
1q21 |
May benefit in type I; uncertain other types |
Mouse |
Type I in clinical practice; trial in Type III in progress |
1 in 57,000 |
1 in 119 | |
|
Globoid cell leucodystrophy |
Krabbe disease |
Glactorcerebrosidase |
14q31 |
May benefit presymptomatic patients |
Mouse, Sheep, Dog, Monkey |
1 in 201,000 |
1 in 188 | |
|
Glycogen storage disease II |
Pompe disease |
a-Glucosidase |
17q25.2-25.3 |
Not helpful |
Dog, Cattle, Quail |
Trials in progress |
1 in 146,000 |
1 in 191 |
|
GMI - Gangliosidosis types I, II and III |
b-Galactosidase |
3q21.3pter |
No benefit in dog |
Cat, Dog, Sheep, Cattle |
1 in 384,000 |
1 in 310 | ||
|
GM2 - Gangliosidosis type I |
Tay Sachs disease |
b-Hexosaminidase A |
15q23-24 |
No benefit |
Mouse |
1 in 201,000 |
1 in 224 | |
|
GM2 - Gangliosidosis type II |
Sandhoff disease |
b-Hexosaminidase A & B |
5q13 |
No benefit |
Mouse |
1 in 384,000 |
1 in 310 | |
|
GM2 - Gangliosidosis |
GM2-activator deficiency |
5q32-33 |
Dog | |||||
|
a-Mannosidosis types I and II |
a-D-Mannosidase |
19p13.2-q12 |
Mouse, Cat, Cattle, Guinea pig |
1 in 1,056,000 |
1 in 514 | |||
|
b-Mannosidosis |
b-D-Mannosidase |
4q.22-q25 |
Goats, Cattle | |||||
|
Metachromatic leucodystrophy |
Arylsulphatase A |
22q13.3-qter |
May benefit presymptomatic patients |
Mouse |
1 in 92,000 |
1 in 152 | ||
|
Metachromatic leucodystrophy |
Saposin B |
10q2 |
May benefit presymptomatic patients |
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|
Neuronal Ceroid Lipofuscinosis, CLN1 |
Palmitoyl protein thieoesterase |
1p34 |
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|
Neuronal Ceroid Lipofuscinosis, CLN2 |
Tripeptidyl peptidase I |
11p15.5 |
||||||
|
Neuronal Ceroid Lipofuscinosis, CLN3 |
Vogt-Spielmeyer disease |
Protein function not known |
16p12.1 |
Mouse, Dog, Sheep | ||||
|
Neuronal Ceroid Lipofuscinosis, CLN5 |
Protein function not known |
13q22 |
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|
Neuronal Ceroid Lipofuscinosis, CLN6 |
Batten disease, late infantile |
Protein function not known |
15q21-23 | Sheep, Mouse | ||||
|
Neuronal Ceroid Lipofuscinosis, CLN8 |
Northern Epilepsy |
Protein function not known |
8pter-p23 |
Mouse | ||||
|
Niemann-Pick disease types A and B |
Niemann-Pick disease |
Acid sphingomyelinase |
11p15.1-p15.4 |
Not helpful for type A |
Mouse |
Trials planned for B |
1 in 248,000 | 1 in 249 |
|
Niemann-Pick disease type C1 |
Niemann-Pick disease |
Cholesterol trafficking |
18q11-12 |
Cat, Mouse |
1 in 211,000 |
1 in 230 | ||
|
Niemann-Pick disease type C2 |
Niemann-Pick disease |
Cholesterol trafficking |
unknown |
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|
Schindler disease types I and II |
Schlinder disease |
a-Galactosidase B |
22q13.1-13.2 |