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Comprehensive Guide to Single-Gene Disorders: Categorized by Inheritance Patterns with Easy Mnemonics
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Table 1: Autosomal Recessive (AR) Disorders
Mnemonic: “Can People Stop Talking While Cooking Toast And Fries?”
| Letter | Disorder | Clinical features |
| C | Cystic Fibrosis (CF) | Thick mucus, lung infections, salty sweat. |
| P | Phenylketonuria (PKU) | Intellectual disability, musty odor. |
| S | Sickle Cell Anemia | Pain crises, anemia, malaria resistance. |
| T | Tay-Sachs Disease | Neurodegeneration, cherry-red macula. |
| W | Wilson’s Disease | Liver disease, KF rings, copper accumulation. |
| C | Congenital Adrenal Hyperplasia | Hormone imbalances, salt-wasting forms. |
| T | Thalassemias | Microcytic anemia, target cells. |
| A | Albinism | Lack of melanin, pale skin, white hair. |
| F | Friedreich’s Ataxia | Neuromuscular disorder with ataxia and cardiomyopathy. |
Table 2: Autosomal Dominant (AD) Disorders
Mnemonic: “My Tall Mom Hates Neurofibers And Fast Runs”
| Letter | Disorder | Clinical features |
| M | Marfan Syndrome | Tall stature, long limbs, aortic aneurysm. |
| T | Tuberous Sclerosis | Benign tumors, seizures, intellectual disability. |
| M | Myotonic Dystrophy | Muscle weakness, cataracts, cardiac conduction defects. |
| H | Huntington’s Disease | Motor dysfunction, cognitive decline. |
| N | Neurofibromatosis Type 1 (NF1) | Café-au-lait spots, neurofibromas, optic gliomas. |
| A | Achondroplasia | Short stature, rhizomelic limb shortening. |
| F | Familial Adenomatous Polyposis | Colonic polyps with cancer risk. |
| R | Retinoblastoma | Eye tumors in childhood. |
Table 3: X-Linked Recessive (XR) Disorders
Mnemonic: “Help Dad Fight Real Heavy Battles”
| Letter | Disorder | Clinical features |
| H | Hemophilia A/B | Bleeding, hemarthrosis, prolonged PTT. |
| D | Duchenne Muscular Dystrophy | Progressive muscle weakness, pseudohypertrophy of calves. |
| F | Fabry Disease | Pain, angiokeratomas, kidney disease (lysosomal storage). |
| R | Red-Green Color Blindness | Difficulty distinguishing red and green hues. |
| H | Hunter Syndrome | Developmental delays, skeletal abnormalities. |
| B | Bruton’s Agammaglobulinemia | Recurrent infections due to lack of B cells. |
Table 4: X-Linked Dominant (XD) Disorders
Mnemonic: “Fragile Girls Love Vitamins”
| Letter | Disorder | Clinical features |
| F | Fragile X Syndrome | Intellectual disability, large ears/testes. |
| G | Goltz Syndrome | Skin, skeletal, and dental abnormalities. |
| L | Lesch-Nyhan Syndrome | Rare XD form; neurobehavioral issues with self-mutilation. |
| V | Vitamin D Resistant Rickets | Bone deformities, hypophosphatemia. |
Super Mnemonic Recap
- AR: “Can People Stop Talking While Cooking Toast And Fries?”
- AD: “My Tall Mom Hates Neurofibers And Fast Runs.”
- XR: “Help Dad Fight Red Hairy Boys.”
- XD: “Fragile Girls Love Vitamins.”
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