genetic disorders classification Flashcards
1
Q
beta-thalassemia
A
AR
2
Q
alpha-thalassemia
A
AR
3
Q
cystic fibrosis
A
AR
4
Q
phenylketonuria
A
AR
5
Q
spinal muscular atrophy
A
AR
6
Q
SURF1 (mitochondrial disorder)
A
AR
7
Q
familial hypocholesteromia
A
AD
8
Q
familial adenomatous polyposis coli
A
AD
9
Q
neurofibromatosis type 1
A
AD
10
Q
achondroplasia
A
AD
11
Q
osteogenesis imperfecta
A
AD
12
Q
huntington chorea
A
AD
13
Q
multiple endocrine neoplasm
A
AD
14
Q
AD polycystic kidney disease
A
AD
15
Q
tuberous sclerosis
A
AD
16
Q
myotonic dystrophy
A
AD
17
Q
ANT1 (mitochondrial disorder)
A
AD
18
Q
G6PD deficiency
A
XLR
19
Q
red-green color blindness
A
XLR
20
Q
duchenne muscular dystrophy
A
XLR
21
Q
haemophilia A
A
XLR
22
Q
TIMM8 (mitochondrial disorder)
A
XLR
23
Q
incontinentia pigmenti
A
XLD
24
Q
X-linked hypophosphatemic rickets
A
XLD
25
Down Syndrome
trisomy 21
26
Chronic Myeloid Leukemia
translocation (22:9), philadelphia chromosome - BCR-ADL
27
MELAS - mitochondrial encephalopathy with lactic acidosis and stroke-like symptoms
mtDNA
28
MERRF (myoclonic epilepsy with ragged red fibres)
mtDNA
29
Kearns-Sayre Syndrome (KSS)
mtDNA
30
Chronic progressive external ophthalmoplegia (CPEO)
mtDNA
31
neurogenic weakness with ataxia and retinitis pigmentosa (NARP)
mtDNA
32
Leigh Syndrome
mtDNA
33
Leber heriditary Optic Neuropathy (single-organ)
mtDNA
