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Medicine (MD/DO)
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USMLE Step 1
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Biochemistry
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Other Genetic Disorders

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Biochemistry | Medicine (MD/DO) School Study Aid

Other Genetic Disorders
25 Picmonics to Learn | 1 hr 5 mins
Osteogenesis Imperfecta
Pathophysiology
Autosomal Dominant
Decreased Type I Collagen Production
Symptoms
Phenotypically Diverse
Brittle Bone Disease
Fractures from Minimal Trauma
Confused with Child Abuse
Hearing Loss
Dental Imperfections
Blue Sclera
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1 min
Ehlers-Danlos Syndrome Disease
Pathophysiology
Faulty Collagen Synthesis
Autosomal Dominant or Recessive
Various Severities
Signs and Symptoms
Hypermobile Joints
Hyperextensible Skin
Easy Bruising/Bleeding
Berry (Saccular) Aneurysm
Considerations
Brighton Criteria
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2 mins
Ehlers-Danlos Syndrome Types
Types
Types 1 and 2 - Classical
Type V Collagen Mutation
Joints and Skin
Type 3 - Hypermobility
Most Common
Tenascin X Deficiency
Joint Instability
Type 4 - Vascular
Type III Collagen Mutation
Vascular and Organ Rupture
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2 mins
Marfan Syndrome
Mechanism
Fibrillin-1 Mutation
Symptoms
Autosomal Dominant
Tall
Arachnodactyly
Pectus Excavatum
Hypermobile Joints
Aortic Aneurysm And Dissection
Mitral Valve Prolapse (MVP)
Subluxation of Lens (Superior)
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2 mins
Thymic Aplasia (DiGeorge Syndrome)
Pathophysiology
DiGeorge Syndrome
22q11 Deletion
Failure to Develop Third and Fourth Pharyngeal Pouches
Signs and Symptoms
Undeveloped Thymus
T Cell Deficiency
Recurrent Viral and Fungal Infections
Undeveloped Parathyroids
Hypocalcemia
Tetany
Aortic Defects
Congenital Heart Defects
Diagnosis
Absent Thymic Shadow on CXR
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2 mins
Cri Du Chat
Pathophysiology
Congenital Deletion of Short Arm of Chromosome 5p
Signs and Symptoms
High Pitched Cry/Mewing
Microcephaly
Hypotonia
Difficulty Sucking and Swallowing
Epicanthal Folds
Widely Spaced Eyes
Wide & Flat Nasal Bridge
High Arched Palate
Intellectual Disability
Cardiac Abnormalities
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3 mins
Williams Syndrome
Pathophysiology
Microdeletion Of Long Arm Of Chromosome 7
Elastin Gene
Signs and Symptoms
Elfin Facies
Intellectual Disability
Extreme Friendliness with Strangers
Well Developed Verbal Skills
Cardiovascular Problems
Hypercalcemia
Increased Sensitivity To Vitamin D
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2 mins
Muscular Dystrophy
Mechanism
X-linked Recessive
Signs and Symptoms
Muscle Weakness
Motor Problems
Gower Sign
Large Calves
Waddling Gait
Loss of Ambulation
Consideration
Cardiac and Respiratory Failure
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2 mins
Von Hippel-Lindau Disease
Pathophysiology
Chromosome 3
Presentation
Hemangioblastomas
Medulla, Retina, Cerebellum
Cysts
Kidney, Liver, Pancreas
Develop Bilateral Renal Carcinomas
Pheochromocytomas
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2 mins
Achondroplasia
Mechanism
Autosomal Dominant
Advanced Paternal Age
Most Common Cause of Dwarfism
Mutation of FGFR3 (Fibroblast Growth Factor Receptor 3)
Defective Endochondral Ossification
Symptoms
Delayed Motor Milestones
Shortened Limbs with Normal Axial Skeleton Size
May Develop Hydrocephalus
Symptoms of Spinal Stenosis
Normal Life Span and Fertility
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2 mins
Bruton's Agammaglobulinemia
Pathophysiology
X-linked Recessive
Defective Bruton Tyrosine Kinase
Blocks B Cell Maturation
Signs & Symptoms
Decreased Immunoglobulins of All Classes
Bacterial Infections After Six Months
Maternal IgG Protects Before Six Months
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2 mins
Klinefelter's Syndrome
Pathophysiology
Male (XXY)
Signs and Symptoms
Eunuchoid Body Shape
Gynecomastia and Female Hair Distribution
Testicular Atrophy
Dysgenesis of Seminiferous Tubules
Possible Developmental Delay
Hypogonadism
Decreased Inhibin B
Increased FSH
Abnormal Leydig Cell Function
Decreased Testosterone
Increased LH
Increased Estrogen
Barr body (inactivated X chromosome)
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6 mins
Neurofibromatosis Type 1
Pathophysiology
Autosomal Dominant
Chromosome 17
Signs and Symptoms
Neurofibromas
Optic Glioma
Lisch Nodules
Hamartomas
Cafe Au Lait Spots
Scoliosis
Pheochromocytoma
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4 mins
Neurofibromatosis Type 2
Pathophysiology
Autosomal-Dominant
Chromosome 22
Signs and Symptoms
Vestibular Schwannoma
Meningioma
Ependymoma
Cafe Au Lait Spots
Cataracts
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2 mins
Kartagener Syndrome (Primary Ciliary Dyskinesia)
inheritance pattern
Autosomal Recessive
pathogenesis
Immotile Cilia Due to a Dynein Arm Defect
Symptoms
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)
SCreening
Decreased Nasal Nitric Oxide Used as Screening Test
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5 mins
Rett Syndrome
Pathogenesis
Sporadic Neurological Disorder
De Novo Mutation of MECP2 on X Chromosome
RISK FACTORS & SYMPTOMS
Seen Almost Exclusively In Girls
Affected Males Die in Utero or Shortly After Birth
Symptoms Usually Appear Between Ages 1-4
Developmental Regression
Motor Impairment
Intellectual Disability (Mental Retardation)
Loss of Verbal Abilities
Seizure
Stereotyped Hand Wringing
Decelerated Head Growth (Microcephaly)
Breathing Problems
Ataxia
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5 mins
Xeroderma Pigmentosum
Pathophysiology
Defective Nucleotide Excision Repair
Pyrimidine Dimer Accumulation
Autosomal Recessive
Susceptible to UVA and UVB Rays
Presentation
Actinic Keratosis
Neurodegeneration
Photosensitivity
Corneal Ulcers
Hyperpigmented Lentigines
Considerations
Increased Risk of Skin Cancer
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3 mins
Adrenoleukodystrophy
Pathophysiology
X-linked Recessive
Peroxisome Dysfunction
ABCD1 Mutation
Presentation
Adrenal Insufficiency
Leukoencephalopathy
Testicular Insufficiency
Diagnosis
Increased Very Long-chain Fatty Acids (VLCFA)
Demyelination
Genetic Testing
Treatment
Lorenzo's Oil
Hematopoietic Stem Cell Transplantation
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3 mins
Type I Spinal Muscular Atrophy
Pathophysiology
Lower Motor Neuron Disease
SMN1 Mutation
Degeneration of Anterior Horn Cells
Autosomal Recessive
Clinical Features
Symmetric Flaccid Paralysis
Hypotonia
Bulbar Palsy
Extraocular Muscle Sparing
Respiratory Failure
Diagnosis
Genetic Testing
Treatment
Supportive Therapy
Nusinersen
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3 mins
Refsum Disease
Pathophysiology
Autosomal Recessive
Peroxisome Dysfunction
Increased Phytanic Acid
Clinical Features
Retinitis Pigmentosa
Hearing Loss
Polyneuropathy
Anosmia
Ataxia
Diagnosis
Genetic Testing
Management
Dietary Changes
Plasmapheresis
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3 mins
Li-Fraumeni Syndrome
Pathophysiology
Autosomal Dominant
TP53 Mutation
Loss of Heterozygosity
Clinical Features
Osteosarcoma
Breast Cancer
Brain Tumors
Leukemia/Lymphoma
Adrenocortical Carcinoma
Management
Supportive Care
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3 mins
Zellweger Syndrome
Pathophysiology
Peroxisome Dysfunction
Autosomal Recessive
PEX Gene Mutation
Clinical Features
Hypotonia
Seizures
Hepatomegaly
Polycystic Kidney Disease
Diagnosis
Increased Very Long-chain Fatty Acids (VLCFA)
Management
Supportive Care
Considerations
Poor Prognosis
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3 mins
McCune-Albright Syndrome Characteristics and Presentation
Characteristics
Increased Hormone Production
Sporadic
Mutation in GNAS Gene
Mosaicism
Clinical Features
Precocious Puberty
Cushing Syndrome
Hyperthyroidism
Cafe Au Lait Spots
Fibrous Dysplasia
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2 mins
Menkes Disease
X-linked Recessive
Defect in ATP7A
Defective Copper Transporting ATPase 1
Defective Collagen
Clinical Features
Brittle, Kinky Hair
Hypopigmentation
Hypotonia
Developmental Delay
Cerebral Aneurysm
Diagnosis
Genetic Testing
Blood Test
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2 mins
Fibrous Dysplasia
Pathophysiology
Bone Replaced by Collagen and Fibroblasts
Location
Face and Skull
Ribs
Long Bones of Arms and Legs
Sign and Symptom
Bone Pain
Diagnosis
"Ground Glass" Appearance on Imaging
Complication
Fracture
Association
McCune-Albright Syndrome
Treatment
Supportive
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2 mins

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