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:
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
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