Syndromes Flashcards
1
Q
Alzheimer Disease
A
- can be AD
- Downs risk is 70% for Alzheimer
- APP, PSEN1, PSEN2, APOE
2
Q
Charcot Marie Tooth
A
- nueropathy in hands and feet, traveling inwards
- muscle wasting
- PMP22 gene
- AD
- duplicaiton
- dominant negative
- myelination degeneration
3
Q
Non-syndromic holoprosencephaly
A
- hemispheres of brain don’t divide
- delayed devlopment, seizures
- SHH gene (sonic hedgehog)
- loss of function
4
Q
Marfan’s Syndrome
A
- FBN1 gene
- ectopia lentis (eye)
- aortic root dilation
5
Q
MERRF
Myoclonic Epilepsy with Ragged Red Fibers
A
- mitochondrial disorder (less ATP)
- seizures
- MT-TK gene
- heteroplasmy (inheritance is dosage dependent)
6
Q
Duchene’s Muscular Dystrophy
A
- DMD gene
- Duchene’s (dominant negative effect) = severe, Backer’s = less severe
- muscle wasting
- X-linked
- female carriers = dilated cardiomyopathy risk
- Gowers sign = child from floro to standing test
7
Q
Noonan Syndrome
A
- RASopathy
- gain of function
- AD
- PTPN11 gene
- sympotoms similar to Turner
- heart defects/ pulmonic stenosis
- genotype/phenotype correlation, lots of genes
8
Q
CHARGE Syndrome
A
Coloboma
Heart
Atresia of Choanae (nasal)
Restricted growth & developmental delays
Genital Abnormalities
Ear Abnormalities
- CHD7 gene
- AD
9
Q
Miller-Dieker Syndrome (MDS)
A
- microdeletion of 17p13.3
- de novo: 80%
- brain dysgenesis (lisencephaly: smooth brain)
- facial dysmorphism
- cardiac defects
- cleft palate
- polydactyly
10
Q
Rett Syndrome
A
- X Linked: prenatal male lethal
- loss of function in MECP2 gene
- progressive neuro disorder
- developmental regression
- severe ID
- sudden death
11
Q
Monogenic Diabetes
A
- MODY: Maturity Onset Diabetes of Young
- polyurea, polydypsea, weight loss
- HNF1 gene loss of function
- MODY gene panel
12
Q
G6PD
A
- malaria
- X-linked
- skewed inactivation
- hemolytic anemia
- jaundice
13
Q
hereditary hemachromatosis
A
- HFE gene
- iron overload
- incomplete penetrance
- AR
- blood letting
14
Q
thrombophelia
A
- blood clots
- common in white people
- gain of function factor IV Leiden
- loss of function protein C
15
Q
Lynch Syndrome
A
- colorectal cancer
- MSH2, MSH6 genes
- AD
