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First Aid for the USMLE Step 1 (2023) | Medicine (MD/DO) School Study Aid

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

2 mins

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

3 mins

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

3 mins

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

4 mins

Hereditary Spherocytosis Disease

Northern Europeans

Autosomal Dominant

Spectrin/Ankyrin Deficiency

Spherocyte Formation

Hemolytic Anemia

Bilirubin Gallstones

Jaundice

Splenomegaly

3 mins

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

3 mins

Li-Fraumeni Syndrome

Autosomal Dominant

TP53 Mutation

Loss of Heterozygosity

Osteosarcoma

Breast Cancer

Brain Tumors

Leukemia/Lymphoma

Adrenocortical Carcinoma

Supportive Care

3 mins

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)

2 mins

MEN 1 (Multiple Endocrine Neoplasia)

Autosomal Dominant

Menin Mutation (Tumor Suppression Gene)

Chromosome 11

Pancreatic Endocrine Tumors

Pituitary Tumors

Parathyroid Adenomas

2 mins

MEN 2A (Multiple Endocrine Neoplasia)

Autosomal Dominant

RET Gene

Medullary Thyroid carcinoma

Calcitonin

Parathyroid

Pheochromocytoma

45 secs

MEN 2B (Multiple Endocrine Neoplasia)

RET Gene

Autosomal Dominant

Medullary Thyroid Carcinoma

Pheochromocytoma

Mucosal Neuromas

Marfanoid Body Habitus

2 mins

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

2 mins

Neurofibromatosis Type 1

Autosomal Dominant

Chromosome 17

Neurofibromas

Optic Glioma

Lisch Nodules

Hamartomas

Cafe Au Lait Spots

Scoliosis

Pheochromocytoma

4 mins

Neurofibromatosis Type 2

Autosomal-Dominant

Chromosome 22

Vestibular Schwannoma

Meningioma

Ependymoma

Cafe Au Lait Spots

Cataracts

2 mins

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

2 mins

Von Hippel-Lindau Disease

Chromosome 3

Hemangioblastomas

Medulla, Retina, Cerebellum

Cysts

Kidney, Liver, Pancreas

Develop Bilateral Renal Carcinomas

Pheochromocytomas

2 mins

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

2 mins

Sickle Cell Anemia (Mechanism)

Intrinsic Normocytic Hemolytic Anemia

Point Mutation

Autosomal Recessive

African American

Dehydration or Decreased O2

Newborns Asymptomatic

Heterozygote Malarial Resistance

2 mins

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

2 mins

Niemann-Pick Disease

Autosomal Recessive

Sphingomyelinase Deficiency

More Common in Ashkenazi Jewish Population

Cherry Red Spot on Macula

Hepatosplenomegaly

Neurodegeneration

Foam Cells

1 min

Krabbe Disease

Autosomal Recessive

Galactocerebrosidase Deficiency

Increased Psychosine

Developmental Delay

Peripheral Neuropathy

Optic Atrophy

Globoid Cells

1 min

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

2 mins

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

1 min

Metachromatic Leukodystrophy

Autosomal Recessive

Arylsulfatase A Deficiency

Increased Cerebroside Sulfate

Demyelination

Ataxia

Dementia

1 min

Hemochromatosis Pathophysiology

Hemosiderin Deposition

Autosomal Recessive

HLA-A3

Secondary to Transfusion Therapy

Increase Iron

Increase Ferritin

Increased Transferrin Saturation

2 mins

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

2 mins

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)

2 mins

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)

4 mins

McArdles Disease

Type V Glycogen Storage Disease

Muscle Glycogen Phosphorylase Deficiency

Increased Glycogen in Muscle

Painful Muscle Cramps

Myoglobinuria

Normal Lactic Acid

Vitamin B6

2 mins

Beta Thalassemia

Microcytic, Hypochromic Anemia

Mediterranean Populations

Decreased Beta-Globin

Increased HbA2

No Intervention

Blood Transfusions

Hemochromatosis

Crew-cut on Skull X-Ray

Electrophoresis

2 mins

Hurler Syndrome

Autosomal Recessive

Mucopolysaccharidoses

Alpha-L-Iduronidase Deficiency

Increased Heparan Sulfate

Increased Dermatan Sulfate

Hepatosplenomegaly

Developmental Delay

Gargoylism

Corneal Clouding

Airway Obstruction

2 mins

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

1 min

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

5 mins

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

2 mins

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

1 min

Cystic Fibrosis Diagnosis and Treatment

Sweat Chloride Test > 60 mmol/L

Meconium Ileus

N-acetylcysteine

Antibiotic Prophylaxis

Pulmonary Maintenance

Lung Transplant

Vitamin Replacement

1 min

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