4: Endocrine genetics Flashcards Preview

Endocrine Week 4 2017/18 > 4: Endocrine genetics > Flashcards

Flashcards in 4: Endocrine genetics Deck (19)
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1

Endocrine diseases have a ___ component.

genetic component

2

What are two general types of genetic disease?

Monogenic (caused by one gene)

Polygenic (caused by several genes + probably environment)

3

What are six modes of inheritance of monogenic disorders?

Autosomal dom

Autosomal recessive

X-linked dom and recessive

Y-linked

Mitochondrial

4

linkage studies for monogenic

5

What is a GWAS?

Genome-wide association study

used to identify mutations responsible for polygenic disease

6

Mendelian diseases tend to have ___ penetrance and ___ frequency.

Polygenic diseases tend to have ___ penetrance and __ frequency.

Mendelian - high penetrance, low frequency

Polygenic - low penetrance, high frequency

7

What are the two most understood monogenic endocrine syndromes?

MEN1

MEN2

8

MEN1 =  3 Ps (pituitary, parathyroid, pancreas)

MEN2A = parathyroid, medullary thyroid cancer, phaeo

MEN2B = mucosal neuromas, marfanoid appearance, medullary thyroid cancer, phaeo

9

Mutation in which gene causes MEN1?

MEN1 gene

10

Mutation in which gene causes MEN2?

RET gene

11

men1 = tumour suppressor gene, one copy

then "second hit" - environmental factor switches off second tumour suppressor gene, leading to tumour genesis

12

MEN1 - inactivation of tumour suppressor

MEN2 - activation of oncogene

13

What disease tends to cause the 50% early mortality seen in MEN1 patients?

Malignant pancreatic tumours

14

As most patients with MEN2 will develop a medullary thyroid cancer, what treatment is carried out prophylactically?

Thyroidectomy

15

Carney Complex:

cushing's disease

acromegaly

thyroid cancer

16

mccune-albright:

cafe au lait macules

bone disease

precocious puberty

17

Von-Hippel-Lindau:

renal cysts > cancer

haemangioblastomas

phaeochromocytomas

18

Neurofibromatosis type 1:

cafe au lait macules

neurofibromas

optic gliomas

scoliosis

19

10%s of phaeochromocytoma:

10% malignant

10% bilateral

10% genetic basis