inheritance

Autosomal recessive

P-Phenyl ketonuria

A- Alkaptonuria

S- sickle cell disease

T-Thallasemia

fried: Friedrich's ataxia

C-Cystic Fibsosis

H-haemophilia hemochromatosis. Homocystinuria

A - alpha-1 Antitsypsin deficiency

W-Wilson's d3

A - Albinism, CAH

L - Lysosomal storage disease

Big - Bloom d3

F- fanconi Anemia

A - Ataxia Telangiectasia

X - xeroderma Pigmentosum

FAX all three diseases are dna repair defects

Autosomal dominant

“He Has A Very DOMINANT and powerful Father”

He

• Hereditary spherocytosis

• Hereditary hemorrhagic telangiectasia

• HPNCC Hereditary non-polyposis Colon
  ca) LYNCH Synd.

Has

•Huntingtons diseases

•Hypertrophic Cardiomyopatty

A - ADPKD (Auto Dominant polycystic Kidney disease)

Very - Von -willibrand dz (VWD)

-Von -Hipple lindau Synd (vHL) (chr. 3p)

D - muscle Dystonia

O- Osteogenesis Imperfecta

M- Marfans Synd

I - Intermittent Porphyria

N-NF -1&2

A - Achondroplasia

N-Noonan's Synd

T- Tuberous Sclerosis

Powerful - Pseudohypoparathyroidism

FAther - Familial Adenomatous Polyposis (FAP)

-Li-Fraumeni Synd(p53 mutation)

-Familial hypercholesterolemia

X linked recessive

Wise: Wiskst- Aldrich syndrome

A: Hemophilia A, B

B: Bruton's hypogammaglobulinemia

C: Chronic granulomatous disease

Red -green color blindness

D: Duchenne Muscular Dystrophy (DMD)

Beckers muscular dystrophy

D cular Albinism

E: LEsch-Nyhan Synd

F: Fabrys, Fragile-X-synd (can be both xlr(mc) and xld)

G: G6PD

H: Hunters

X linked dominant

RICH AF” is a mnemonic for X-linked dominant disorders:

• R – Rett syndrome

• I – Incontinentia pigmenti

• C – charcot marrie Tooth syndrome

• H – Hypophosphatemic rickets (same condition; some mnemonics use H for it)

• A – Alport syndrome

• F – Fragile X syndrome ❌ Actually X-linked dominant? No — Fragile X is X-linked dominant with reduced penetrance in some exam classifications, but classically X-linked dominant is not the preferred label.