Genetics of Endocrinology Flashcards

1
Q

what is a monogenic disorder

A

single gene aetiology

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

what are the patterns of inheritance of a monogenic disorder

A

AD, AR, XLD, XLR, Y-linked, mitochondrial

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

what are polygenic disorders

A

caused by multiple genes often with environmental influences

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

what pattern of monogenic inheritance means males can only pass it on to females

A

x linked dominant

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

what pattern of monogenic inheritance means females are carriers, males get affected

A

X linked recessive

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

what pattern of monogenic inheritance means only males are affected

A

Y linked

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

what pattern of monogenic inheritance means you inherit from mother

A

mitochondrial (always get mitochondrian DNA from mum)

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

name 3 monogenic endocrine tumour syndromes

A

MEN 1, MEN 2, von hippel-lindau disease

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

what gene causes MEN 1 syndrome

A

MEN 1, 11 q

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

what gene causes MEN 1 syndrome

A

REY

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

what gene causes von hippel lindau syndrome

A

VHL

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

what tumours associated with MEN 1

A

pituitary, parathryoid, pancreatic + loads more

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

what tumours are associated with MEN 2

A

thyroid medullary (C cell), adrenal chromaffin (pheochromocytoma), parathyroid hyperplasia

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

what pattern of inheritance does MEN 1 and 2 follow

A

autosomal dominant

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

what is the MEN 1 gene

A

a tumour suppressor

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

what is the RET gene

A

proto-oncogene

17
Q

what do MEN 1 mutations cause

A

loss/ reduced protein function

18
Q

what do RET mutations cause

A

activate activation of tyrosine kinase

19
Q

why is MEN 1 so important

A

premature morbidity and mortality (50%)
considerable psychological burden
dealing with incertainty

20
Q

what are the leading causes of death in MEN 1

A

malignant pancreatic neuroendocrine tumour

thymic carcinoids

21
Q

what does mutation analysis of

MEN 1 allow

A

Identification of ‘at risk’ individuals
Contact tracing of additional family members
Reassurance to those without the familial MEN1 mutation
Periodic screening and early tumour detection in those at risk
Appropriate genetic counselling

22
Q

what is the treatment for MEN 2

A

Medullary Thyroid Cancer
-Prophylactic thyroidectomy

Screening for Pheochromocytoma

screening for parathyroid disease

23
Q

where is the mutation in carney complex

A

protein kinase PKA

24
Q

what are the clinical features of carney complex

A

PPNAD (adrenal glands make excess cortisol - cushings)
acromegaly (GH producing adenoma)
thyroids carcinoma

25
what are the features of mccune albright syndrome
Café-au-lait skin pigmentation Precocious puberty (typically females) Thyroid nodules Pituitary – GH excess Cushing’s syndrome (adrenal)
26
what is the inheritance of von hippel lindau
autosomal dominant
27
what does von hippel lindau cause
range of vascular tumours
28
what are the features of neurofibromatosis
``` Axillary freckling Café-au-lait patches Neurofibromas Optic gliomas Scoliosis (learning difficulties in some) ``` Phaeochromocytoma (rare)- secrete high levels od adrenaline/ noradrenaline which can cause hypertension
29
where is the mutation in neurofibromatosis type 1
NF1 gene
30
what are SDH B, C and D
Key mitochondial enzymes involved in succinate metabolism and Kreb’s cycle
31
describe SDHD
causes head and neck paragangliomas | get it from Dad
32
decscribe SDHB
causes malignant paragangliomas | B for Bad