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:
3
Gene:
1
Variant:
3
Reference:
2
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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