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.