Flashcards in MIDTERM - Genes to Know Deck (28)
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1
GNAS
Gs-alpha
40% of somatotrophs
McCune-Albright Syndrome
2
PRKAR1A
GH and prolactin adenomas
3
Cyclin D1
hyperparathyroidism
4
MEN1
Primary Hyperparathyroidism
GH, PRL, and ACTH adenomas
5
AIP
GH adenoma
6
WNT pathway
Craniopharyngioma
7
Anti-thyroglobulin + Anti-thyroid peroxidase
Hashimoto's
8
Anti-thyroid peroxidase
Painless thyroiditis
9
CTLA4 + PTPN22
Hashimoto's/Graves
Type 1 DM
10
TSI
Graves
11
Most common gene in functional thyroid adenomas:
TSHR
12
Most common genes in nonfunctional thyroid adenomas:
RAS, PI3KA, PAX8-PPARG fusion gene
13
Genes for papillary carcinoma:
RET/PTC fusion, NTRK1, BRAF
14
Genes for follicular carcinoma:
RAS, PI3K/AKT, PTEN
Translocation (2;3) - PAX8/PPARG
15
Genes for anaplastic carcinoma:
P53, b-catenin
16
Genes for medullary carcinoma:
RET (as in MEN) or just a germline RET
17
CASR
Familial Hypocalciuric Hypercalcemia
18
Mutation in gene for PTH precursor peptide or glial cells missing 2 (GCM2)
Familial isolated hypoparathyroidism (FIH)
19
Genes associated with type 1 DM:
HLA: DR3, DR4, DQ8
gene for insulin
CTLA4 & PTPN22
AIRE
20
Defect in GCK (glucokinase)
MODY
21
insulin receptor mutation
Diabetes associated with PCOS, lipoatrophic types
22
Genes associated with PanNETs
MEN1, PTEN, TSC2, ATRX, DAXX
23
Gene common to bilateral idiopathic hyperaldosteronism and Conn Syndrome:
KCNJ5
24
CYP11
glucocorticoid-remediable hyperaldosteronism
(possibly AME)
25
Genetic mutation in CAH
CYP21A2
26
Auto-antibodies to 17 and 21 hydroxylase
Autoimmune adrenalitis
27
Syndromic genes associated with pheochromocytomas:
VHL, NF1, RET
28
