Genmutationen Flashcards

1
Q

NOD2-Gen

A

Morbus Crohn

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

JAK-2 (V617F)

A

OMF, PV und ET

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

T315I

A

Sonderform der CML die nicht auf Imatinib anspricht, Th: Ponatinib

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

MRP-2

A

Dubin-Johnson- und Rotor-Syndrom

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

∆F508 (CFTR)

A

Mukoviszidose

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

HFE

A

Hämochromatose

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

APC

A

FAP

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

MADH4

A

Familiäre juvenile polyposis

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

STK11/LKB1

A

Peutz-Jeghers-Syndrom

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

PTEN/MMAC1

A

Cowden-Syndrom

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

t(8;14)

A

Burkitt-Lymphom

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

t(14;18)

A

Follikuläres Lymphom

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

t(11;14)

A

Mantelzelllymphom (zentrozystisches L.)

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

t(11;18)

A

MALT-Lymphom

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

PKD-1

A

ADPKD

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

MEFV

A

Familiäres Mittelmeerfieber

17
Q

FGFR-3

A

Achondroplasie

18
Q

WT1-Gen

A

Wilms-Tumor-Supressor-Gen (TS-Gen)

19
Q

TP53

A

Li-Fraumeni (TS-Gen)

20
Q

RET

A

MEN II (Onkogen)

21
Q

RB

A

Retinoblastom + Osteosarkom (TS-Gen)

22
Q

N-myc

A

Neuroblastom (Onkogen)

23
Q

Kras

A

KRK (Onkogen)

24
Q

Cu/Zn-Superoxiddismutase (SOD1)

A

ALS

25
Q

MeCP2-Gen (Xq28)

A

Rett-Syndrom