Disorder "Gaucher's Disease"
Found 16 records
Disorder information
Disorder name:
Gaucher's Disease
Disoder ID:
Synonyms:
glocucerebrosidase deficiency, Gaucher disease, acid beta-glucosidase deficiency, glucosylceramide beta-glucosidase deficiency, kerasin thesaurismosis
Definition:
A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
Modifier statisitcs
Record:
16
Gene:
7
Variant:
14
Reference:
10
Effect type:
Expressivity(15)
,Penetrance(1)
Modifier effect:
Altered severity(7)
,Altered gene activity(3)
,Altered glucosylceramide(2)
,Altered Sap C deficiency(1)
,Altered glucocerebrosidase(1)
,Altered incidence(1)
,Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| GBA | GBA:c.680A>G(p.Asn227Ser) | Expressivity | Altered gene activity | Gene expression studies | c.680A>G (p.N188S) is a very mild mutation or another modifier variant.more | more |
| GBA:c.84insG | Expressivity | Altered severity | Assessment of genotype–phenotype associations | Modify disease severitymore | more | |
| GBA:p.Leu444Pro | Expressivity | Altered gene activity | Gene expression studies | The L444P homozygotes implicates the contribution of genetic modifiers in defining the phenotype in Gaucher disease.more | more | |
| GBA:p.Leu444Pro | Expressivity | Altered glucosylceramide | Study on animal models | GBA2 as a plausible modifier for GBA1 in patients with GDmore | more | |
| GBA:c.1226A>G(p.Asn409Ser) | Expressivity | Risk factor | Assessment of genotype–phenotype associations | The N370S(1226G) homozygosity predisposes to Gaucher's disease, may be a prediposing polymorphic variant.more | more | |
| CLN8 | CLN8 | Penetrance | Altered incidence | From review article | Overexpression of CLN8 may have a positive/protective modifying effectmore | more |