Syndromes & Genetic Diseases

Front 1

Agammaglobulinemia inheritance/gene

Back 1

X-linked recessive
BTK - tyrosine kinase gene involved in Bcell maturation

Front 2

DiGeorge syndrome chromosomal defect

Back 2

22q11 deletion

Front 3

Ataxia-telangiectasia gene/presentation

Back 3

Defective ATM gene - DNA repair enzymes
Cerebellar defects, spider angiomas, IgA deficiency

Front 4

Ataxia-telangiectasia presentation

Back 4

Cerebellar defects, spider angiomas, IgA deficiency

Front 5

Wiskott-Aldrich syndrome gene, inheritance, presentation

Back 5

WASP, X-linked
Thrombocytopenia, eczema, recurrent infections (cellular & humoral immunity)

Front 6

Wiskott-Aldrich syndrome presentation

Back 6

Thrombocytic puprura, infection (deletion of B&T cells, Excezema

Front 7

Job's syndrome presentation

Back 7

Coarse facies, cold staphylococcal abscesses, retained primary teeth, hyper-IgE, eczema

Front 8

Chediak-Higashi syndrome inheritance/gene

Back 8

Autosomal recessive
LYST gene defect - microtubule defect in phagosome-lysosome fusion

Front 9

Severe combine immunodeficiency (SCID) genes/inheritance

Back 9

Defective IL-2 receptor - X-linked
Adenosine deaminase deficiency - autosomal recessive
MHC II deficiency

Front 10

Chronic gramulomatous disease defect

Back 10

Lack of NADPH oxidase

Front 11

Scleroderma presentation

Back 11

CREST - Calcinosis, Raynaud's, Esophageal dysmotility, Sclerodactyly, Telangiectasias

Front 12

Plummer-Vinson syndrome

Back 12

iron deficiency anemia, esophageal web, atrophic glossitis

Front 13

FGF receptor 3 mutation

Back 13

Achondroplasia, AD

Front 14

PKD1 mutation

Back 14

Autosomal dominant polycystic kidney disease
Polycystic kidneys & liver, berry aneurysm
Chromosome 16

Front 15

APC gene

Back 15

Familial adenomatous polyposis
Chromosome 5

Front 16

Osler-Weber-Rendu syndrome

Back 16

Autosomal dominant
Telangiectasia, epistaxis, skin discolorations, ateriovenous malformations

Front 17

Hereditary spherocytosis

Back 17

AD, spectrin or ankyrin defect

Front 18

Chromosome 4, trinucleotide repeat

Back 18

Huntington's, AD

Front 19

Fibrillin gnene mutation

Back 19

Marfan's syndrome, AD

Front 20

NF1 gene

Back 20

Neurofibromatosis I, AD, Chromosome 17

Front 21

NF2 gene

Back 21

Neurofibromatosis II, AD, chromosome 22

Front 22

FMR1 gene

Back 22

Fragile X, X-linked
Mental retardation, macroorchidism, large jaw & ears, autism, mitral valve prolapse

Front 23

5p deletion

Back 23

Cri-du-chat

Front 24

11p deletion

Back 24

Wilm's tumor

Front 25

13q deletion

Back 25

Retinoblastoma

Front 26

Glucose-6-phosphatase deficiency

Back 26

Von Gierke disease (Type I)
Severe hypoglycemia, hepatomegaly, increased lactate levels

Front 27

a-1,4 glucosidase deficiency

Back 27

Pompe's disease (Type II)
Cardiomegaly leads to early death

Front 28

Debranching enzyme deficiency

Back 28

Cori Disease (Type III)
Milder form of type 1, normal lactate levels

Front 29

Skeletal muscle glycogen phosphorylase deficiency

Back 29

McArdle's syndrome (Type V)
Muscle cramps/weakeness, myoglobinuria

Front 30

Fabry's disease

Back 30

a-galactosidase A deficiency, XR
ceramide trihexose accumulation

Front 31

Gaucher's disease

Back 31

Glucocerebrosidase deficiency

Front 32

Neimann-pick disease

Back 32

Sphingomyelinase deficiency

Front 33

Tay-Sachs disease

Back 33

Hexosamidase A deficiency
GM3 ganglioside accumulation

Front 34

*Krabbe's disease

Back 34

B-galactocerebrosidase deficiency

Front 35

*Metachromatic leukodystrophy

Back 35

Arylsulfatease A deficiency
Cerebroside sulfate accumulation

Front 36

Hurler's syndrome

Back 36

a-L-iduronidase deficiency
Heparan/dermatan sulfate accumulation

Front 37

Hunter's syndrome

Back 37

L-iduronate sulfatase deficiency
Heparan/dermatan sulfate accumulation