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 |
---|---|---|---|---|---|---|
SCARB2 | SCARB2:c.1412A>T(p.Glu471Val) | Expressivity | Altered glucocerebrosidase | Pedigree analysis | A mutation in SCARB2 is a modifier in Gaucher diseasemore | more |
PSAP | PSAP | Expressivity | Altered Sap C deficiency | Gene activity study | The PSAP gene encoding saposin C is a prime candidate modifier for Gaucher disease.more | more |
IL6 | IL6:c.-174C>G | Expressivity | Altered severity | P<0.05 | The C/C genotype may be associated with a milder Gaucher phenotype, and may serve as a mitigating genetic modifier.more | more |
HLA | HLA:DR11allele | Expressivity | Altered severity | P=0.008 | An association was found between DR11 (p=0.008) and DR13 (p=0.011) alleles and the severity of the disease. DR11 allele seems to be associated to neurologic compromise, while DR13 seems to be associated to osteonecrosis.more | more |
HLA:DR13allele | Expressivity | Altered severity | P=0.011 | An association was found between DR11 (p=0.008) and DR13 (p=0.011) alleles and the severity of the disease. DR11 allele seems to be associated to neurologic compromise, while DR13 seems to be associated to osteonecrosis.more | more | |
GBA2 | GBA2:n.35766561C>T | Expressivity | Altered glucosylceramide | Study on animal models | GBA2 as a plausible modifier for GBA1 in patients with GDmore | more |
GBA | GBA:c.1093G>A(p.Glu365Lys) | Expressivity | Altered gene activity | Gene expression studies | c.1093G>A (p.E326K) should be considered a modifier variant rather than a neutral polymorphismmore | more |
GBA:c.1226A>G(p.Asn409Ser) | Expressivity | Altered severity | Assessment of genotype–phenotype associations | Modify disease severitymore | more | |
GBA:c.1342G>C(p.Asp448His) | Expressivity | Altered severity | Assessment of genotype–phenotype associations | Modify disease severitymore | more | |
GBA:c.1448T>G(p.Leu483Arg) | Expressivity | Altered severity | Assessment of genotype–phenotype associations | Modify disease severitymore | more |