Achondroplasia
- Autosomal Dominant
- Advanced Paternal Age
- Most Common Cause of Dwarfism
- Mutation of FGFR3 (Fibroblast Growth Factor Receptor 3)
- Defective Endochondral Ossification
- Delayed Motor Milestones
- Shortened Limbs with Normal Axial Skeleton Size
- May Develop Hydrocephalus
- Symptoms of Spinal Stenosis
- Normal Life Span and Fertility
Autosomal Dominant Polycystic Kidney Disease
- Autosomal Dominant
- Mutations in PKD1/2
- Cystic Enlargement of Renal Tubules
- Chronic Kidney Disease
- Hypertension
- Mitral Valve Prolapse
- Hepatic Cysts
- Berry (Saccular) Aneurysms
Familial Adenomatous Polyposis
- Autosomal Dominant
- Mutation in Chromosome 5
- APC Gene Mutation
- Overexpression of Beta-catenin
- Two-Hit Hypothesis
- Change in Bowel Habits
- Colonic Polyps
- Colonoscopy
- Prophylactic Surgery
- Progresses to Colorectal Carcinoma
Familial Hypercholesterolemia (Type IIa Familial Dyslipidemia)
- Autosomal Dominant
- Defective or Absent LDL Receptors
- Defective Apolipoprotein B-100 (ApoB-100)
- Increased LDL
- Decreased HDL
- Type IIb also has Increased VLDL
- Accelerated Atherosclerosis
- Achilles Tendon Xanthomas
- Xanthelasma
- Corneal Arcus
Hereditary Spherocytosis Disease
- Northern Europeans
- Autosomal Dominant
- Spectrin/Ankyrin Deficiency
- Spherocyte Formation
- Hemolytic Anemia
- Bilirubin Gallstones
- Jaundice
- Splenomegaly
Huntington's Disease
- Autosomal Dominant
- Trinucleotide Repeat
- CAG Repeats
- Chromosome 4
- Anticipation
- Caudate
- Decrease of ACh
- Decrease of GABA
- Chorea
- Dementia
- Depression
- Glutamate Toxicity
- Neuronal Death via NMDA Binding
Li-Fraumeni Syndrome
- Autosomal Dominant
- TP53 Mutation
- Loss of Heterozygosity
- Osteosarcoma
- Breast Cancer
- Brain Tumors
- Leukemia/Lymphoma
- Adrenocortical Carcinoma
- Supportive Care
Marfan Syndrome
- Fibrillin-1 Mutation
- Autosomal Dominant
- Tall
- Arachnodactyly
- Pectus Excavatum
- Hypermobile Joints
- Aortic Aneurysm And Dissection
- Mitral Valve Prolapse (MVP)
- Subluxation of Lens (Superior)
MEN 1 (Multiple Endocrine Neoplasia)
- Autosomal Dominant
- Menin Mutation (Tumor Suppression Gene)
- Chromosome 11
- Pancreatic Endocrine Tumors
- Pituitary Tumors
- Parathyroid Adenomas
MEN 2A (Multiple Endocrine Neoplasia)
- Autosomal Dominant
- RET Gene
- Medullary Thyroid carcinoma
- Calcitonin
- Parathyroid
- Pheochromocytoma
MEN 2B (Multiple Endocrine Neoplasia)
- RET Gene
- Autosomal Dominant
- Medullary Thyroid Carcinoma
- Pheochromocytoma
- Mucosal Neuromas
- Marfanoid Body Habitus
Myotonic Dystrophy
- Autosomal Dominant
- Trinucleotide Repeat
- CTG
- Facial Muscle Weakness
- Frontal Balding
- Sustained Grip
- Conduction Defects
- Cataracts
- Selective Atrophy of Type 1 Fibers
- Testicular Atrophy
Neurofibromatosis Type 1
- Autosomal Dominant
- Chromosome 17
- Neurofibromas
- Optic Glioma
- Lisch Nodules
- Hamartomas
- Cafe Au Lait Spots
- Scoliosis
- Pheochromocytoma
Neurofibromatosis Type 2
- Autosomal-Dominant
- Chromosome 22
- Vestibular Schwannoma
- Meningioma
- Ependymoma
- Cafe Au Lait Spots
- Cataracts
Tuberous Sclerosis
- Autosomal Dominant
- Hamartomas in CNS and Skin
- Phakoma
- Subependymal Giant Cell Astrocytoma
- Seizures
- Intellectual Disability (Mental Retardation)
- Adenoma Sebaceum
- Shagreen Patch
- Ash-leaf Spots
- Renal Angiomyolipoma
- Cardiac Rhabdomyoma
Von Hippel-Lindau Disease
- Chromosome 3
- Hemangioblastomas
- Medulla, Retina, Cerebellum
- Cysts
- Kidney, Liver, Pancreas
- Develop Bilateral Renal Carcinomas
- Pheochromocytomas
Phenylketonuria (PKU)
- Decreased Phenylalanine Hydroxylase
- Decreased Tetrahydrobiopterin Cofactor
- Autosomal Recessive
- Tyrosine Becomes Essential
- Phenylalanine Found in Nutrasweet
- Musty or Mousy Body Odor
- Growth Retardation
- Seizures
- Intellectual Disability
- Hypopigmentation
Sickle Cell Anemia (Mechanism)
- Intrinsic Normocytic Hemolytic Anemia
- Point Mutation
- Autosomal Recessive
- African American
- Dehydration or Decreased O2
- Newborns Asymptomatic
- Heterozygote Malarial Resistance
Wilson's Disease Pathophysiology
- Autosomal Recessive
- Mutation in ATP7B gene
- Chromosome 13
- Decrease in Ceruloplasmin
- Inadequate copper excretion
- Liver
- Brain
- Kidney
- Cornea
- Joints
- Treat with Penicillamine
Niemann-Pick Disease
- Autosomal Recessive
- Sphingomyelinase Deficiency
- More Common in Ashkenazi Jewish Population
- Cherry Red Spot on Macula
- Hepatosplenomegaly
- Neurodegeneration
- Foam Cells
Krabbe Disease
- Autosomal Recessive
- Galactocerebrosidase Deficiency
- Increased Psychosine
- Developmental Delay
- Peripheral Neuropathy
- Optic Atrophy
- Globoid Cells
Gauchers Disease
- Autosomal Recessive
- Beta Glucocerebrosidase Deficiency
- Lipid-laden Macrophages
- Crumpled Tissue Paper
- Osteoporosis
- Bone Crises
- Aseptic Necrosis of Femur
- Erlenmeyer Flask Deformity
- Hepatosplenomegaly
- Pancytopenia
Tay-Sachs Disease
- Autosomal Recessive
- Hexosaminidase A Deficiency
- Increased GM2 Ganglioside
- More Common in Ashkenazi Jewish Population
- Cherry Red Spot on Macula
- Neurodegeneration
- Developmental Delay
- Onion Skin Lysosomes
Metachromatic Leukodystrophy
- Autosomal Recessive
- Arylsulfatase A Deficiency
- Increased Cerebroside Sulfate
- Demyelination
- Ataxia
- Dementia
Hemochromatosis Pathophysiology
- Hemosiderin Deposition
- Autosomal Recessive
- HLA-A3
- Secondary to Transfusion Therapy
- Increase Iron
- Increase Ferritin
- Increased Transferrin Saturation
Von Gierke Disease
- Autosomal Recessive
- Type I Glycogen Storage Disease
- Glucose-6-Phosphatase Deficiency
- Increased Glycogen in Liver
- Hepatomegaly
- Enlarged Kidneys
- Severe Fasting Hypoglycemia
- Increased Triglycerides
- Increased Uric Acid (Gout)
- Increased Lactic Acid
- Doll-like Facies
- Continuous Oral Glucose (or Cornstarch)
- Avoid Fructose and Galactose
Pompe Disease
- Type II Glycogen Storage Disease
- Autosomal Recessive
- Deficiency of Lysosomal Alpha 1,4 Glucosidase
- Acid Maltase
- Hypertrophic Cardiomyopathy
- Hepatomegaly
- Macroglossia
- Hypotonia
- Increased Glycogen within Lysosomes
- Increased Lactate Dehydrogenase (LDH)
- Increased Creatine Kinase (CK/CPK)
Cori Disease
- Type III Glycogen Storage Disease
- Deficiency of Alpha 1, 6 Glucosidase
- Debranching Enzyme
- Limit-Dextrin Accumulation (In Cytosolic Structures)
- Hypoglycemia
- Muscle Weakness
- Hypotonia
- Stunted Growth
- Hepatomegaly
- Normal Blood Lactic Acid Levels
- Gluconeogenesis Intact
- Increased LFT's
- Increased Creatine Kinase (CK/CPK)
- Continuous Feeding
- High Protein Diet
- Cornstarch (Uncooked)
McArdles Disease
- Type V Glycogen Storage Disease
- Muscle Glycogen Phosphorylase Deficiency
- Increased Glycogen in Muscle
- Painful Muscle Cramps
- Myoglobinuria
- Normal Lactic Acid
- Vitamin B6
Beta Thalassemia
- Microcytic, Hypochromic Anemia
- Mediterranean Populations
- Decreased Beta-Globin
- Increased HbA2
- No Intervention
- Blood Transfusions
- Hemochromatosis
- Crew-cut on Skull X-Ray
- Electrophoresis
Hurler Syndrome
- Autosomal Recessive
- Mucopolysaccharidoses
- Alpha-L-Iduronidase Deficiency
- Increased Heparan Sulfate
- Increased Dermatan Sulfate
- Hepatosplenomegaly
- Developmental Delay
- Gargoylism
- Corneal Clouding
- Airway Obstruction
Friedreich's Ataxia
- Trinucleotide Repeat
- GAA Repeat
- Frataxin
- Mitochondrial Dysfunction
- Autosomal Recessive
- Hammertoes
- High Arches
- Kyphoscoliosis
- Lateral Corticospinal Tract
- Posterior Column
- Spinocerebellar Tract
- Type I Diabetes Mellitus
- Hypertrophic Cardiomyopathy
Kartagener Syndrome (Primary Ciliary Dyskinesia)
- Autosomal Recessive
- Immotile Cilia Due to a Dynein Arm Defect
- Decreased Male and Female Fertility
- Immotile Sperm
- Dysfunctional Fallopian Tube Cilia
- Increased Risk of Ectopic Pregnancy
- Bronchiectasis
- Recurrent Sinusitis
- Chronic Ear Infections
- Conductive Hearing Loss
- Situs Inversus (Dextrocardia on Chest X-Ray)
- Decreased Nasal Nitric Oxide Used as Screening Test
Cystic Fibrosis Mechanisms
- Autosomal Recessive
- CFTR Chromosome 7
- Cl- channel Defect
- Decreased Chloride Secretion
- Increased Na and Water Reabsorption
- Increased Na and Cl in Sweat
- Dehydration of Mucous Layers
Cystic Fibrosis Symptoms and Complications
- Recurrent Pulmonary Infections
- Chronic Bronchitis
- Nasal Polyps
- Pancreatic Insufficiency
- Intestinal Obstruction
- Malabsorption and Diarrhea
- Vitamin Deficiencies
- Chronic Hepatic Disease
- Infertility in Males
Cystic Fibrosis Diagnosis and Treatment
- Sweat Chloride Test > 60 mmol/L
- Meconium Ileus
- N-acetylcysteine
- Antibiotic Prophylaxis
- Pulmonary Maintenance
- Lung Transplant
- Vitamin Replacement