Niemann-Pick Syndrome
Niemann-Pick Syndrome Type A
General description
Niemann-Pick syndrome is a metabolic disorder that belongs to the group of lysosomal storage diseases. In addition to damage to nerve tissue, other organs such as the liver, spleen, lungs, kidneys, and the gastrointestinal tract are often affected as well. Clinical symptoms include weakness and balance problems (ataxia), as well as absent spinal reflexes. As the condition progresses, tremors may also occur during purposeful movements (intentional tremor). The disease usually begins in the first few months of life and is fatal.
Breeds
–
Order details
| Test Number | Included only in LABOGeneticsXXL – Cat |
| Abbreviation | NPS |
Test specifications
| Inheritance | probably autosomal recessive |
| Gen | SMPD I |
| Mutation | G-A |
| References | OMIA:001795-9685 |
Niemann-Pick Syndrome C1 (H441P)
General description
Niemann-Pick syndrome is a metabolic disorder that belongs to the group of lysosomal storage diseases and is associated with the destruction of nerve tissue. Other organs, such as the spleen and liver, may also be affected. Clinical symptoms include progressive balance problems (ataxia), which can progress to the point of an inability to walk. A lack of weight gain or even weight loss have also been reported. The disease usually begins in the first few months of life and is fatal.
Breeds
–
Order details
| Test Number | Included only in LABOGeneticsXXL – Cat |
| Abbreviation | NPS |
Test specifications
| Inheritance | probably autosomal recessive |
| Gene | NPC1 |
| Variant | A–C |
| References | OMIA:000725-9685 |
Niemann-Pick Syndrome Type C2 (G28_S29ins)
General description
Niemann-Pick syndrome is a metabolic disorder that belongs to the group of lysosomal storage diseases and is associated with the destruction of nerve tissue. Other organs, such as the liver and spleen, may also be affected. Clinical symptoms include progressive balance problems (ataxia), which can progress to the point of an inability to walk, and tremors during purposeful movements (intentional tremor). The development of seizures is also described. The disease usually begins in the first few months of life and is fatal.
Breeds
–
Order details
| Test Number | Included only in LABOGeneticsXXL – Cat |
| Abbreviation | NPS |
Test specifications
| Inheritance | probably autosomal recessive |
| Gen | NPC2 |
| Mutation | G-A |
| References | OMIA:002065-9685 |
Niemann-Pick Syndrome C2 (V126M)
General description
Niemann-Pick syndrome is a metabolic disorder that belongs to the group of lysosomal storage diseases and is associated with the destruction of nerve tissue. Other organs, such as the liver and spleen, may also be affected. Clinical symptoms primarily include progressive balance disorders (ataxia), which can progress to the point of an inability to walk, and tremors. The disease usually begins in the first few months of life and is fatal.
Breeds
Siamese/Japanese Domestic Cats
Order details
| Test Number | Included only in LABOGeneticsXXL – Cat |
| Abbreviation | NPS |
Test specifications
| Inheritance | probably autosomal recessive |
| Gen | NPC2 |
| Mutation | G-A |
| References | OMIA:002065-9685 |
Niemann-Pick Syndrome C1 (C955S)
General description
Niemann-Pick syndrome is a metabolic disorder that belongs to the group of lysosomal storage diseases and is associated with the destruction of nerve tissue. Other organs, such as the spleen and liver, may also be affected. Clinical symptoms include progressive balance problems (ataxia), which can progress to the point of an inability to walk. The disease usually begins in the first few months of life and is fatal.
Breeds
–
Order details
| Test Number | Included only in LABOGeneticsXXL – Cat |
| Abbreviation | NPS |
Test specifications
| Inheritance | probably autosomal recessive |
| Gene | NPC1 |
| Variant | G-C |
| References | OMIA:000725-9685 |
