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List of Genetic Diseases HIGH YIELD USMLE STEP 1
List of Genetic Diseases HIGH YIELD USMLE STEP 1
DOMINANT
DISEASES
Tuberous sclerosis
Marfan syndrome
Neurofibromatosis
Huntington's
Retinoblastoma
Waardenburg
syndrome
Myotonic dystrophy
Familial
hypercholestrolemia
(LDL receptor defect
Type IIa)
Polycystic kidney
disease
Familial
adenomatous
polyposis and Peutz
Jeghers Syndrome
Polydactyly
Chondrodystrophy
Osteogenesis
Imperfecta (Except
Type VII)
CAH.
Congenital hepatic
fibrosis.
Cystic Fibrosis.
Cystinosis,
Cystinuria.
Dubin-Johnson
syndrome.
Endocardial
Fibroelastosis.
Familial
Mediterranean
Fever.
Fanconi Anemia.
Friedrech's Ataxia.
Gastroschisis.
Gaucher's
Hereditary
hemorrhagic
telengiactasia
(Osler-weber-rendu
syndrome)
Osteopetrosis Type
II (Adult type)
Hypokalemic Periodic
Paralysis
AUTOSOMAL
RECESSIVE
DISEASES
Abetalipoproteine
mia.
Glanzman's
Thromasthenia.
Hereditory
spherocytosis
Alkaptonuria.
Hitchhikers thumb
Achondroplasia
Albinism
Erhler's Danlos
(vascular type)
Metachromatic
Leukodystrophy
Bernard-Soulier
syndrome.
Acute intermittent
porphyria
Bloom syndrome.
Hypertrophic
Obstructive
Cardiomyopathy
(HOCM)
Carpenter
syndrome.
Von Willebrand
Disease
Chediak-Higashi
syndrome.
GLYCOGEN
STORAGE
DISEASES
(AUTOSOMAL
RECESSIVE).
Hartnup Disease.
Krabbe Disease.
Leukocyte
Adhesion Defect.
Nieman Pick
Disease.
Hemophilia A and
B
Rotor syndrome.
Fabry's Disease
Shwaman
Diamond
syndrome.
Wiskott-Aldrich
Syndrome
Bruton's
Aggamaglobuline
mia
Situs Inversus.
Color Blindness
Tay-Sachs.
Thalasemia.
Complete
Androgen
Insensitivity
Werner syndrome.
Wilson's Disease.
Congenital
Aqueductal
stenosis
(hydrocephalus)
Xeroderma
pigmentosa.
Inherited
Nephrogenic
Diabetes Insipidus
X-LINKED
RECESSIVE
DISEASES
Lesch-Nyhan
Syndrome
Duchene Muscular
Dystrophy
Becker muscular
dystrophy
Hunter's disease.
Menkes Disease
(Kinky hair
syndrome)
Glucose 6
Phosphate
Dehydrogenase
Deficiency
X-LINKED DOMINANT
DISEASES
There's no homozygous
females (because of the
random inactivation of
one of the X
chromosomes).
The inheritance follows
one of two patterns:
X linked
hypophos
photemic
rickets.
2. Manifested only in
females and is
lethal in utero in
males. Examples
include
Incontinenta
pigmenti,
Focal dermal
hypoplasia,
Orofaciodigit
al syndrome.
MITOCHONDRIA
L DISEASES
This type of inheritance,
also known as maternal
inheritance, applies to
genes in mitochondrial
DNA. Because only egg
cells contribute
mitochondria to the
developing embryo, only
mothers can pass on
mitochondrial conditions
to their children (males
and females)
Diabetes mellitus
and deafness
(DAD Syndrome)
Male Infertility
Excessive hair
on the ear pinna
(Hypertrichosis
pinnae)
Leber's hereditary
optic neuropathy
(LHON)
Leigh syndrome,
subacute
sclerosing
encephalopathy
Neuropathy,
ataxia, retinitis
pigmentosa, and
ptosis (NARP
Syndrome)
Retinitis
pigmentosa
Color blindness
Chromosome 6 :
Hemochromatosis.
XYY syndrome
Chromosome 7 :
Cystic Fibrosis.
Williams syndrome
CHROMOSOME 8
CMYC-Burkitt lymphoma
Myoneurogenic
gastrointestinal
encephalopathy
(MNGIE
Syndrome)
Chromosome 11p :
Sickle Cell disease.
Chromosome 11(short
arm):
Myoclonic Epilepsy
with Ragged Red
Fibers (MERRF
Syndrome)
Mitochondrial
myopathy,
encephalomyopath
y, lactic acidosis,
stroke-like ympto
ms. (MELAS
Syndrome)
Chromosome 13 :
Patau Syndrome.
Wilson Disease.
RB- Retinoblastoma gene
Chromosome 13q: RB
tumor supresor gene
Retinoblastoma
LIST OF Y LINKED
DISEASES:
CHROMOSOMAL
LINKED DISEASES
The Y chromosome is
relatively small and
contains very few genes,
there are relatively few Ylinked disorders.
Chromosome 3p:
VHL Von hippel lindau
syndrome
Chromosome 15 :
Angelman
Syndrome (band q12)
Prader-willi Syndrome
Tay-Sachs Disease.
Marfan syndrome
Chromosome 4
trinucleotide repeat CAG
Huntintons disease
Chromosome 16,16 :
ADULT Polycystic Kidney
Disease (PKD1, defect)
Chromosome 17p :
Celiac Disease.
Charcot-Marie-Tooth
Disease.
NF-1
Neurofibromatosis 1
Chromosome 18 :
Edward Syndrome.
Chromosome 21 :
Down Syndrome. 3
genetic variants
1. 3 full copies of 21, non
disjunction during
MEIOSIS I (95%)
2.Chromosomal
translocation
(Robertsonian) 14:21 in
3-4%
3. Mosaicism After
fertilization, 2 cell lines,
one with free trisomy and
one with normal
karyotype 1-3% occurs
during MITOSIS
MOST COMMON
AUTOSOMAL TRISOMIES
Chromosome 22 :
Digeorge Syndrome.
Neurofibromatosis
type 2 (22q).
18 EDWARDS
SYNDROME
Chromosome TP53
Li Fraumeni Sx
TRISOMY 16 (NEVER
ENCOUNTERED AT LIVE
BIRTHS)
CHROMOSOME X
Fragile X syndrome
X-Linked Agamma
globulinemia
Klinefelter Syndrome XXY
21 DOWN SYNDROME
(MOST COMMON
ABNORMALITY FOUND AT
THIRD TRIMESTER
AMNIOCENTESIS)
13 PATAU SYNDROME