Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Endocrine II > MIDTERM - Genes to Know > Flashcards

MIDTERM - Genes to Know Flashcards

(28 cards)

Start Studying
1
Q

GNAS

A

Gs-alpha
40% of somatotrophs
McCune-Albright Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

PRKAR1A

A

GH and prolactin adenomas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Cyclin D1

A

hyperparathyroidism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

MEN1

A

Primary Hyperparathyroidism

GH, PRL, and ACTH adenomas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

AIP

A

GH adenoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

WNT pathway

A

Craniopharyngioma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Anti-thyroglobulin + Anti-thyroid peroxidase

A

Hashimoto’s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Anti-thyroid peroxidase

A

Painless thyroiditis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

CTLA4 + PTPN22

A

Hashimoto’s/Graves

Type 1 DM

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

TSI

A

Graves

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Most common gene in functional thyroid adenomas:

A

TSHR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Most common genes in nonfunctional thyroid adenomas:

A

RAS, PI3KA, PAX8-PPARG fusion gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Genes for papillary carcinoma:

A

RET/PTC fusion, NTRK1, BRAF

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Genes for follicular carcinoma:

A

RAS, PI3K/AKT, PTEN

Translocation (2;3) - PAX8/PPARG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Genes for anaplastic carcinoma:

A

P53, b-catenin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Genes for medullary carcinoma:

Study These Flashcards
A

RET (as in MEN) or just a germline RET

17
Q

CASR

Study These Flashcards
A

Familial Hypocalciuric Hypercalcemia

18
Q

Mutation in gene for PTH precursor peptide or glial cells missing 2 (GCM2)

Study These Flashcards
A

Familial isolated hypoparathyroidism (FIH)

19
Q

Genes associated with type 1 DM:

Study These Flashcards
A

HLA: DR3, DR4, DQ8
gene for insulin
CTLA4 & PTPN22
AIRE

20
Q

Defect in GCK (glucokinase)

21
Q

insulin receptor mutation

Study These Flashcards
A

Diabetes associated with PCOS, lipoatrophic types

22
Q

Genes associated with PanNETs

Study These Flashcards
A

MEN1, PTEN, TSC2, ATRX, DAXX

23
Q

Gene common to bilateral idiopathic hyperaldosteronism and Conn Syndrome:

24
Q

CYP11

Study These Flashcards
A

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

Endocrine II (1 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions