Stephen Shared "Other random genetic disorders" - 20 Picmonics
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Other random genetic disorders
G6PD Deficiency
- X-linked Recessive
- Hemolytic Anemia
- Inflammatory Response
- Fava Beans
- Sulfonamides
- Primaquine
- Anti TB Drugs
- Heinz Bodies
- Bite Cells
- Prevalent Among African Americans due to Increased Malarial Resistance
2 mins
G6PD Mechanism
- Turns NADP+ to NADPH
- NADPH Used by Glutathione Reductase
- Detoxifies Free Radicals and Peroxides
- X-linked Recessive
2 mins
Neurofibromatosis Type 1
- Pathophysiology
- Autosomal Dominant
- Chromosome 17
- Signs and Symptoms
- Neurofibromas
- Optic Glioma
- Lisch Nodules
- Hamartomas
- Cafe Au Lait Spots
- Scoliosis
- Pheochromocytoma
4 mins
Neurofibromatosis Type 2
- Pathophysiology
- Autosomal-Dominant
- Chromosome 22
- Signs and Symptoms
- Vestibular Schwannoma
- Meningioma
- Ependymoma
- Cafe Au Lait Spots
- Cataracts
2 mins
Sturge Weber Syndrome
- Pathophysiology
- GNAQ Gene
- Signs and Symptoms
- Port Wine Stain
- Arterial Venous Malformation
- Leptomeningeal Angiomas
- Intellectual Disability
- Seizures
- Pheochromocytoma
- Glaucoma
- Tram-Track Calcifications
3 mins
Tuberous Sclerosis
- Characteristics
- Autosomal Dominant
- Signs and Symptoms
- 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
- Pathophysiology
- Chromosome 3
- Presentation
- Hemangioblastomas
- Medulla, Retina, Cerebellum
- Cysts
- Kidney, Liver, Pancreas
- Develop Bilateral Renal Carcinomas
- Pheochromocytomas
2 mins
Ataxia Telangiectasia
- Pathophysiology
- Autosomal Recessive
- ATM Gene
- Defect in DNA repair
- Signs & Symptoms
- Cerebellar defects
- Spider Angiomas
- Sensitive to Radiation
- Defective Tumor Suppressor Gene
- Increased risk of Cancer, Leukemias, and Lymphomas
- Increased AFP levels
- IgA deficiency
- Repeated sinopulmonary infections
2 mins
Leukocyte Adhesion Deficiency
- Pathophysiology
- Autosomal Recessive
- Integrin CD18 Protein
- Defect in LFA-1
- Attached to ICAM
- Signs and Symptoms
- Neutrophilia
- Bacterial Infections
- Non-Pyogenic
- Delayed Separation of Umbilical Cord
2 mins
5 Alpha Reductase Deficiency
- Autosomal Recessive
- Inability to Convert Testosterone to DHT
- Normal Internal Genitalia
- Ambiguous External Genitalia until Puberty
- Masculinization During Puberty with Growth of External Genitalia
- LH can be Increased
- Normal Estrogen, LH, and Testosterone levels
2 mins
Androgen Insensitivity (Complete)
- Defect in Androgen Receptor
- Phenotypically Female
- (46, XY)
- Female External Genitalia
- Rudimentary Vagina
- Scant Sexual Hair
- Testes Often in Labia Majora
- Testes Surgically Removed to Prevent Malignancy
- Increased Estrogen, Testosterone, and LH
- Absent Uterus and Fallopian Tubes
3 mins
Kallman Syndrome
- Mutation in KAL-1 or FGFR-1 Gene
- Failure of GnRH Secreting Neurons
- Delayed Puberty
- Anosmia
- Hypogonadism
- Infertility
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)
6 mins
Turner Syndrome
- Signs and Symptoms
- Female (XO)
- Short stature
- Shield Chest
- Cystic Hygroma (Webbing of Neck)
- Lymphedema in Hands and Feet
- Ovarian Dysgenesis
- Streak Ovary
- Decreased Estrogen
- Increased FSH
- Increased LH
- Dysgerminoma
- Bicuspid Aortic Valve
- Preductal Coarctation of the Aorta
- Horseshoe Kidney
- Menopause before Menarche
- Amenorrhea
5 mins
Chronic Mucocutaneous Candidiasis
- Mechanism and Characteristics
- T Cell Dysfunction
- Candida Albicans
- Signs and Symptoms
- Infections of Skin
- Infections of Mucous Membrane
- Susceptible to HPV Infections like Condyloma Acuminatum
42 secs
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
2 mins
Menopause Symptoms
- Symptoms
- HAVOCS Mnemonic
- Hot Flashes
- Atrophy of Vagina
- Osteoporosis
- Coronary Artery Disease (CAD)
- Sleep disturbances
50 secs
MEN 1 (Multiple Endocrine Neoplasia)
- Pathophysiology
- Autosomal Dominant
- Menin Mutation (Tumor Suppression Gene)
- Chromosome 11
- Signs and Symptoms
- Pancreatic Endocrine Tumors
- Pituitary Tumors
- Parathyroid Adenomas
2 mins
MEN 2A (Multiple Endocrine Neoplasia)
- Pathophysiology
- Autosomal Dominant
- RET Gene
- Signs and Symptoms
- Medullary Thyroid carcinoma
- Calcitonin
- Parathyroid
- Pheochromocytoma
45 secs
MEN 2B (Multiple Endocrine Neoplasia)
- Pathophysiology
- RET Gene
- Autosomal Dominant
- Signs and Symptoms
- Medullary Thyroid Carcinoma
- Pheochromocytoma
- Mucosal Neuromas
- Marfanoid Body Habitus
2 mins
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