Comprehensive Guide to Single-Gene Disorders: Categorized by Inheritance Patterns with Easy Mnemonics

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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