Case II CI II table

Achondroplasia inheritance?

Autosomal dominant

Achondroplasia gene?

FGFR3 mutation

Achondroplasia pathophysiology?

Impaired endochondral ossification

Achondroplasia key feature?

Short limbs with normal trunk

Familial hypercholesterolemia inheritance?

Autosomal dominant

Familial hypercholesterolemia defect?

LDL receptor deficiency

Familial hypercholesterolemia consequence?

Elevated LDL and early atherosclerosis

Familial hypercholesterolemia buzzword?

Tendon xanthomas

Hereditary spherocytosis inheritance?

Autosomal dominant

Hereditary spherocytosis defect?

Spectrin deficiency

Hereditary spherocytosis RBC shape?

Spherocytes

Hereditary spherocytosis consequence?

Hemolytic anemia and splenomegaly

Huntington disease inheritance?

Autosomal dominant

Huntington disease mutation?

CAG repeat expansion

Huntington disease brain region?

Caudate nucleus degeneration

Huntington disease symptoms?

Chorea psychiatric symptoms dementia

Marfan syndrome inheritance?

Autosomal dominant

Marfan syndrome defect?

Fibrillin-1 mutation

Marfan syndrome eye finding?

Lens dislocation upward

Marfan syndrome major risk?

Aortic dissection

Neurofibromatosis type 1 inheritance?

Autosomal dominant

Neurofibromatosis type 1 gene?

NF1 tumor suppressor

Neurofibromatosis type 1 skin finding?

Café-au-lait spots

Neurofibromatosis type 1 tumor?

Neurofibromas

Osteogenesis imperfecta inheritance?

Autosomal dominant

Osteogenesis imperfecta defect?

Type I collagen mutation

Osteogenesis imperfecta sclera?

Blue sclera

Osteogenesis imperfecta feature?

Brittle bones

Polycystic kidney disease inheritance?

Autosomal dominant

Polycystic kidney disease genes?

PKD1 and PKD2

Polycystic kidney disease complication?

Hypertension

Polycystic kidney disease association?

Berry aneurysms

von Willebrand disease inheritance?

Autosomal dominant

von Willebrand disease defect?

vWF deficiency

von Willebrand disease bleeding type?

Mucosal bleeding

von Willebrand disease lab finding?

Prolonged bleeding time

Alkaptonuria defect?

Homogentisate oxidase deficiency

Alkaptonuria urine finding?

Dark urine

Alkaptonuria complication?

Ochronosis and arthritis

Cystic fibrosis gene?

CFTR mutation

Cystic fibrosis pathophysiology?

Defective chloride transport

Cystic fibrosis lung issue?

Thick mucus and infections

Cystic fibrosis sweat?

Salty

Friedreich ataxia mutation?

GAA repeat expansion

Friedreich ataxia major symptom?

Ataxia

Friedreich ataxia heart?

Cardiomyopathy

Gaucher disease enzyme?

Glucocerebrosidase deficiency

Gaucher disease accumulation?

Glucocerebroside

Gaucher disease organ finding?

Hepatosplenomegaly

Gaucher disease symptom?

Bone pain

Hemochromatosis gene?

HFE mutation

Hemochromatosis problem?

Iron overload

Hemochromatosis triad?

Cirrhosis diabetes bronze skin

Homocystinuria enzyme?

Cystathionine beta-synthase deficiency

Homocystinuria eye finding?

Lens dislocation downward

Homocystinuria risk?

Thrombosis

Phenylketonuria enzyme?

Phenylalanine hydroxylase deficiency

Phenylketonuria smell?

Musty odor

Phenylketonuria pigment?

Hypopigmentation

Pompe disease enzyme?

Acid alpha-glucosidase deficiency

Pompe disease accumulation?

Glycogen in lysosomes

Pompe disease heart?

Cardiomegaly

Sickle cell disease mutation?

Beta-globin mutation

Sickle cell disease mechanism?

Hemoglobin S polymerization

Sickle cell disease trigger?

Low oxygen

Sickle cell disease complication?

Vaso-occlusion

Tay-Sachs enzyme?

Hexosaminidase A deficiency

Tay-Sachs accumulation?

GM2 ganglioside

Tay-Sachs eye finding?

Cherry-red macula

Tay-Sachs organ finding?

No hepatosplenomegaly

Wilson disease gene?

ATP7B mutation

Wilson disease accumulation?

Copper

Wilson disease eye finding?

Kayser-Fleischer rings

G6PD deficiency mechanism?

Decreased NADPH

G6PD deficiency trigger?

Oxidative stress drugs infection fava beans

G6PD deficiency smear?

Heinz bodies and bite cells

Hemophilia B defect?

Factor IX deficiency

Hemophilia B bleeding type?

Hemarthrosis

Lesch-Nyhan enzyme?

HGPRT deficiency

Lesch-Nyhan feature?

Self-mutilation

Wiskott-Aldrich triad?

Immunodeficiency eczema thrombocytopenia

Alport syndrome defect?

Type IV collagen mutation

Alport syndrome triad?

Hematuria hearing loss eye problems

Marfan vs Homocystinuria lens direction?

Marfan up Homocystinuria down

Tay-Sachs vs Gaucher spleen?

Tay-Sachs no hepatosplenomegaly Gaucher yes

Hemophilia vs von Willebrand bleeding?

Hemophilia deep bleeding vWD mucosal bleeding

Sickle cell vs G6PD mechanism?

Sickle cell hemoglobin defect G6PD enzyme deficiency