Disorder "Niemann-Pick Disease Type C"
Found 1 record
Disorder information
Disorder name:
Niemann-Pick Disease Type C
Disoder ID:
OMIM entry:
Definition:
Niemann–Pick?type?C?is?a?lysosomal?storage?disease?associated?withmutations?in?NPC1?and?NPC2?genes.?Niemann–Pick?type?C?affects?anestimated?1:150,000?people.?Approximately?50%?of?cases?present?before10?years?of?age,?but?manifestations?may?first?be?recognized?as?late?as?thesixth?decade.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered onset time(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| NPC1 | NPC1:c.2848G>A(p.Val950Met) | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | The V950M variant being sufficient for adult-onset NPC diseasemore | more |
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