Disorder "Multiple Endocrine Neoplasia Type 2A"
Found 3 records
Disorder information
Disorder name:
Multiple Endocrine Neoplasia Type 2A 
Disoder ID:
OMIM entry:
Synonyms:
MEN2A,Sipple syndrome,multiple endocrine neoplasia II 
Definition:
An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. 
Modifier statisitcs
Record:
Gene:
Variant:
Reference:
Effect type:
Expressivity(3)  
Modifier effect:
Altered onset time(3)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
RET RET:c.2712C>G(p.Ser904Ser) Expressivity  Altered onset time  100% fisher's exact test, P<0.001  The G691S and S904S variants of RET have a modifier effect on the age at onset of MEN 3Amore more
RET:c.2071G>C(p.Gly691Arg) Expressivity  Altered onset time  100% fisher's exact test, P<0.001  The G691S and S904S variants of RET have a modifier effect on the age at onset of MEN 2Amore more
RET:p.Ala432Ala Expressivity  Altered onset time  P=0.01  RET A432A showed a positive weak effect on tumor spectrum within MEN2Amore more
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