MIDTERM - Genes to Know Flashcards Preview

Endocrine II > MIDTERM - Genes to Know > Flashcards

Flashcards in MIDTERM - Genes to Know Deck (28)
Loading flashcards...
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

Most common gene affecting transcription factors found in pheochromocytomas

HIF-1a