Genetic Disorders Flashcards
3 autosomal dominant disorders and associated defects
Marfan syndrome
Ehler danlos syndrome
Familial hypercholesterolemia type III
Autosomal recessive disorders
Example of most common
- Spingolipidoses
- Spingomyelinoses
- Sulfatidoses
- Mucopolysaccharidoses
- Glycogenoses
- Sphingolipidoses : Tay Sachs
- Sphingomyelinoses : Niemann Pick
- Sulfatidoses : Gaucher
- MPS : Hurler + Hunter
- Glycogenoses: Von Gierke, McArdle)
Tay Sachs disease
- Genetic defect type
- Defect
- Accumulation
- Morphology Neuron and Retina
- AR
- Alpha subunit of hexoaminidase A
- Accumulation of gm2 ganglioside
- Neurons Whorled onion skin on EM ;Retina cherry red spot
Niemann pick disease
- genetic
- Defect
- Accumulation
- EM
- More severe type
- AR
- Spinhgomyelinase
- Sphingomyelin
- Lamellated myelin figures Zebra bodies
- Type b
Clinical: also has cherry red spot (although less than tay sach), hepatosplenomegally
Gaucher disease
- Genetic
- Most common what?
- Defect
- Accumulation
- Morphology
- Type Severe vs common
- AR
- Lysosomal storage disorder
- Glucocerebrosidase (or beta glucosidase)
- Glucocerebrosides
- Crumpled tissue paper of cytoplasm
Type I common
Type II severe (aka infantile)
Mucopolysaccharidoses
- Defect
- Accumulation
- MPS I vs MPS II
- Enzymes to degrade GAGs
- GAGs
- MPSI : hurler | MPS II Hunter
Hurler syndrome
- MPS ___
- Enzyme defect
- Genetics
- Clinical morph vs Hunter
5: clinical course
- MPS I
- alpha L iduronase
- AR
- Present corneal clouding
- Severe
Hunter syndrome
- MPS ___
- Enzyme defect
- Genetics
- Clinical morph vs Hunter
5: clinical course
- MPS II
- L iduronosulfate sulfatase
- X linked
- No corneal clouding
- Milder
Glycogenoses
Hepatic
Myopathic
Lysosomes
Type I von gierke
Type V mcardle
Type II pompe
Von gierke disease
Enzyme
Type
With ____ no _____
Glucose 6 phosphatase
Type 1a
Hypoglycemia lactic acidosis NO CAD
Macardle syndrome
Enzyme
Type
Clinical
Muscle phosphorylase
Type 5
Lactic acidosis cramps high muscle glycogen
Pompe disease
Enzyme
Type
Clinical
Lysosomal acid maltase
Type II
INCREASE glycogen, heart failure in kids, muscle dystrophy in adults
Down
Edwards
Patau
Pathology:
21
18
13
Nondisjunction of ___ chromosome
Di George
Cardiac anomalies Abnormal fascies Thymic hypoplasia Cleft palate Hypocalcemia (secondary to parathyroid hypoplasia) 22
Klinefelter syndrome
Chromosome defect
Gender
Clinical
47 XXY
MALE hypogonadism
Micro penis, testicular atrophy
Metabolic syndrome
Gynecomastia
MVP
Turner syndrome
Gender
Chromosome
Clinical
Cause of mortality
Female
45X 0
infertility Ovarian streak short shoebox cystic hygromas preductal CoA
Amenorrhea
Short HOmeobox
Cystic hygroma webneck
Preductal Coarctation
Trinicleotide repeats
Anticipation means
Disease worsens with successive generation
Fragile x
Second most most common cause of _______ after _______
expansion
Gene
Clinical feature
MR downs
CGG FMR1 Gene on x chromosome
Macroorchidism
IQ 20-60 (Mental retardation)
Huntington
Autosomal ______
Expansion gene
Clinical
Dominant
CAG expansion HTT gene
Movement dysorders dementia progressive FATAL
In X linked disorder…
- All sons…
- All daughters are?
- All sons do not transmit to sons
2. All daughters are carriers
Mitcochondrial dystorder
- MELAS
- Bilaterial central vision blindnes
- Mitochondrial myopathy, enchephalopathy, lactic acidosis, stroke
- Leber hereditary optic neuropahty
In Angelman syndrome
- Deletion in _____ chromosome site
- Leads to activation of the imprinted _____ gene on the ____ chromosome
- Maternal chromosome site
- Prader willi gene on the paternal is active; and UBE3A is silenced on the paternal chromosome
LOSS OF FUNCTION
In prader willi syndrome;
- There is deletion of site in ___________
- On the ___________ chromosome, ___________ is imprinted, ________ is active?
- Paternal chromosome
- Maternal chromosome; prader willi is imprinted, UBE3a gene is active
Loss of function in prader willi gene
