genetic disorders classification

Question 1

beta-thalassemia

Answer 1

AR

Question 2

alpha-thalassemia

Answer 2

AR

Question 3

cystic fibrosis

Answer 3

AR

Question 4

phenylketonuria

Answer 4

AR

Question 5

spinal muscular atrophy

Answer 5

AR

Question 6

SURF1 (mitochondrial disorder)

Answer 6

AR

Question 7

familial hypocholesteromia

Answer 7

AD

Question 8

familial adenomatous polyposis coli

Answer 8

AD

Question 9

neurofibromatosis type 1

Answer 9

AD

Question 10

achondroplasia

Answer 10

AD

Question 11

osteogenesis imperfecta

Answer 11

AD

Question 12

huntington chorea

Answer 12

AD

Question 13

multiple endocrine neoplasm

Answer 13

AD

Question 14

AD polycystic kidney disease

Answer 14

AD

Question 15

tuberous sclerosis

Answer 15

AD

Question 16

myotonic dystrophy

Answer 16

AD

Question 17

ANT1 (mitochondrial disorder)

Answer 17

AD

Question 18

G6PD deficiency

Answer 18

XLR

Question 19

red-green color blindness

Answer 19

XLR

Question 20

duchenne muscular dystrophy

Answer 20

XLR

Question 21

haemophilia A

Answer 21

XLR

Question 22

TIMM8 (mitochondrial disorder)

Answer 22

XLR

Question 23

incontinentia pigmenti

Answer 23

XLD

Question 24

X-linked hypophosphatemic rickets

Answer 24

XLD

Question 25

Down Syndrome

Answer 25

trisomy 21

Question 26

Chronic Myeloid Leukemia

Answer 26

translocation (22:9), philadelphia chromosome - BCR-ADL

Question 27

MELAS - mitochondrial encephalopathy with lactic acidosis and stroke-like symptoms

Answer 27

mtDNA

Question 28

MERRF (myoclonic epilepsy with ragged red fibres)

Answer 28

mtDNA

Question 29

Kearns-Sayre Syndrome (KSS)

Answer 29

mtDNA

Question 30

Chronic progressive external ophthalmoplegia (CPEO)

Answer 30

mtDNA

Question 31

neurogenic weakness with ataxia and retinitis pigmentosa (NARP)

Answer 31

mtDNA

Question 32

Leigh Syndrome

Answer 32

mtDNA

Question 33

Leber heriditary Optic Neuropathy (single-organ)

Answer 33

mtDNA