Inheritance of Diseases

Question 1

NF1, NF2, TSC

Answer 1

Autosomal Dominant

NF1 - Chromosome 17
NF 2 - Chromosome 22
TSC - Chromosome 16

Question 2

LiFraumeni Syndrome

Answer 2

Autosomal Dominant

p53

Question 3

Familial Hypercholesterolemia

Answer 3

Autosomal Dominant

Mutation in LDL or LDL receptors (ApoB100)

Question 4

Cystinuria

Answer 4

Autosomal Recessive

Defect in PCT transporter - no reabsorption
Urinary Cyanide-Nitroprusside Test is diagnostic

Question 5

PKU

Answer 5

Autosomal Recessive

No Phenylalanine Hydroxylase or BH4

Question 6

Fabry Disease

Answer 6

X-Linked Recessive

Alpha-Galactosidase A

Question 7

Von Hippel-Lindau Disease

Answer 7

Autosomal Dominant

Chromosome 3 –> Renal Cell Carcinoma

Question 8

Bruton Agammaglobulinemia

Answer 8

X-Linked Recessive

Defect in BTK gene - Tyrosine Kinase

Question 9

Hunter Syndrome

Answer 9

X-Linked Recessive

Iduronate sulfatase

Question 10

Lesch-Nyhan Syndrome

Answer 10

X-Linked Recessive

Absent HGPRT
TX: Allopurinol or Febuxostat

Question 11

Sickle Cell Anemia

Answer 11

Autosomal Recessive

Glutamic Acid to Valine Missense in Beta Globin gene
Chromosome 11

Question 12

Rett’s Syndrome

Answer 12

X-Linked Dominant

De novo mutation of MECP2

Question 13

Wiskott-Aldrich Syndrome

Answer 13

X-Linked Recessive

WASp gene
Thrombocytopenia, Eczema, Recurrent infections

Question 14

CAG repeats

Answer 14

Huntington Disease
Autosomal Dominant

Atrophy of Caudate and Putamen
Chromosome 4

Question 15

Hurler Syndrome

Answer 15

Autosomal Recessive

a-L-Iduronidase

Gargoylism, Airway obstruction, Corneal Clouding, Hepatosplenomegaly

Question 16

GAA

Answer 16

Friedrich Ataxia

Chromosome 9 - Frataxin gene
Necessary for Mitochondrial IRON REGULATION - free radical damage to neurons

Diabetes, Pes Cavus, Kyphoscoliosis, Hypertorphic Cardiomyopathy

Question 17

Huntington Disease

Answer 17

Autosomal Dominant

CAG Repeats - Chromosome 4

Question 18

Hereditary Hemorrhagic Telangiectasia

Answer 18

Autosomal Dominant

Osler Weber Rendu

Question 19

Glycogen Storage Diseases

Answer 19

Autosomal Recessive

Question 20

CTG repeats

Answer 20

Myotonic Dystrophy

Cataracts
Toupee
Gonadal Atrophy

Question 21

Cystic Fibrosis

Answer 21

Autosomal Recessive

CFTR - Deletion of Phe508
Chromosome 7

Question 22

MSUD

Answer 22

Autosomal Recessive

Decreased Branched Chain alpha-Ketohydrogenase
THIAMINE as Cofactor

Question 23

CGG repeats

Answer 23

Fragile X

X-Linked Dominant
FMR1 gene - Hypermethylation

Question 24

Marfan Syndrome

Answer 24

Autosomal Dominant

Fibrillin-1 - Chromosome 15
Forms a sheath around elastin

Question 25

Fragile X

Answer 25

X-Linked Dominant

CGG Repeats
FMR1 gene - Hypermethylation

Question 26

Duchenne (and Becker) Muscular Dystrophy

Answer 26

X-Linked Recessive
DMD gene - point mutation, either frameshift or non-frameshift
Dilated Cardiomyopathy (vs. Freidrich which is HCM)

Question 27

Childhood Polycystic Kidney Disease

Answer 27

Autosomal Recessive

Associated with Congenital Hepatic fibrosis
Can lead to Potter sequence

Question 28

Achondroplasia

Answer 28

Autosomal Dominant

FGFR3 gene

Question 29

G6PD Deficiency

Answer 29

X-Linked Recessive

Question 30

Charcot Marie Tooth

Answer 30

X-Linked Dominant

Defective proteins for peripheral nerves or myelin sheath
Pes cavus, Hammer toe, Lower extremity weakness

Question 31

Lysosomal Storage Diseases

except Fabry

Answer 31

Autosomal Recessive

Question 32

Hereditary Spherocytosis

Answer 32

Autosomal Dominant

Ankyrin Band 3, Protein 4.2, Spectrin
TX: Splenectomy

Question 33

Familial Adenomatous Polyposis

Answer 33

Autosomal Dominant

APC - Tumor Suppressor Gene
Chromosome 5

Question 34

Multiple Endocrine Neoplasia

Answer 34

Autosomal Dominant

MEN1 - Menin Chromosome 11
MEN 2A/B - RET (Chromosome 10)

Question 35

Wilson Disease

Answer 35

Autosomal Recessive

ATP7B gene - Copper Transporting ATPase
Chromosome 13
TX: Chelation with Penicillamine, Trientine, Oral Zinc

Question 36

Kartagener Syndrome

Answer 36

Autosomal Recessive

Defect in Dynein arms affecting cilia

Question 37

Albinism

Answer 37

Autosomal Recessive

Locus Heterogeneity - mutations at different loci
Chediak - LYST mutation
Loss of Tyrosine Hydroxylase

Question 38

Hemochromatosis

Answer 38

Autosomal Recessive

HFE Gene - Chromosome 6
HLA-A3
Dilated/Restrictive Cardiomyopathy

Question 39

Thalassemias

Answer 39

Autosomal Recessive

Allelic Heterogeneity - different mutations, same locus
Mutations in SPLICE SITES and Promoter Regions

Question 40

Hemophilia A and B

Answer 40

X-Linked Recessive

A = Factor VIII
B = Factor IX

Hemophilia C (AR) = Factor XI

Question 41

Alport Syndrome

Answer 41

X-Linked Dominant

Type IV Collagen
Hearing loss, Cataracts, Nephritic Syndrome

“Can’t see, can’t pee, can’t hear a bee”

Question 42

Adult Polycystic Kidney Disease

Answer 42

Autosomal Dominant

PKD1 (85%) - Chromosome 16
PKD2 (15%) - Chromosome 4

Berry aneurysms
TX: ACE-I’s or ARBs

Question 43

Adrenoleukodystrophy

Answer 43

X-Linked Recessive

Disrupted VLCFA’s –> Excessive buildup in nercous system, adrenal gland, testes
Zellweger’s - peroxisomal disorder

Question 44

Ornitine Transcarbamylase (OTC) Deficiency

Answer 44

X-Linked Recessive

Most common Urea Disorder - Hyperammonemia

Question 45

Poliomyelitis/Werdnig-Hoffman

Answer 45

Autosomal Recessive

Congenital degeneration of Anterior Horn LMNs
Polio = Asymmetric weakness
Werdnig = Symmetric Weakness

Question 46

Menke’s Disease

Answer 46

X-Linked Recessive

Impaired copper absorption (ATP7a)
Decreased acitivity of lysyl oxidase –> Decreased collagen cross-linking in ECM

Question 47

Liddle Syndrome

Answer 47

Autosomal Dominant

all others are recessive - Bartter, Gitelmann