Genetic Disorders, Diseases of the Immune System, Neoplasia Flashcards by Aisha Nain

Q

Gene Defect of Marfan Syndrome

A

Fibrillin-1 (Chromosome 15)

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Q

Defect in Ehlers-Danlos Syndrome

A

Fibrillar Collagen
AD: Collagen structural genes (COL)
AS: Enzymes in collagen synthesis

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Q

Organs affected by Marfan syndrome

A

Skeleton
Eyes
CVS

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Q

Characterization of lens subluxation in Marfan syndrome

A

Outward and upward
*homocystinuria - inward and downward

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Q

Gene in Ehlers Danlos types

A

Classic (I/II) - COL5A1, COL5A2
Hypermobility (III) - Unknown
Vascular (IV) - COL3A1
Arthrochalasia (VIIa, VIIb) - COL1A1, COL1A2
Kyphoscoliosis (VI) - Lysyl hydroxylase
Dermatosparaxis (VIIc) - Procollagen N-peptidase

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Q

Defect in Familial Hypercholesterolemia

A

LDL receptor mutation (Class I-VI)
I - synthesis
II - transport
III - Binding
IV - Clustering
V - Recycling
VI - Initial targeting

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Q

What type of Genetic Disorder?
AD
AS
X-D
X-S

Huntington Disease

A

AD

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Q

What type of Genetic Disorder?
AD
AS
X-D
X-S

Neurofibromatosis

A

AD

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Q

What type of Genetic Disorder?
AD
AS
X-D
X-S

Myotonic dystrophy

A

AD

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Q

What type of Genetic Disorder?
AD
AS
X-D
X-S

Tuberous Sclerosis

A

AD

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Q

What type of Genetic Disorder?
AD
AS
X-D
X-S

Polycystic Kidney Disease

A

AD

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Q

What type of Genetic Disorder?
AD
AS
X-D
X-S

Familial polyposis coli

A

AD

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Q

What type of Genetic Disorder?
AD
AS
X-D
X-S

Hereditary spherocytosis

A

AD

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Q

What type of Genetic Disorder?
AD
AS
X-D
X-S

Von Willebrand Disease

A

AD

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Q

What type of Genetic Disorder?
AD
AS
X-D
X-S

Marfan Syndrome

A

AD

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Q

What type of Genetic Disorder?
AD
AS
X-D
X-S

Ehlers Danlos Syndrome

A

AD

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Q

What type of Genetic Disorder?
AD
AS
X-D
X-S

Osteogenesis imperfecta

A

AD

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Q

What type of Genetic Disorder?
AD
AS
X-D
X-S

Achondroplasia

A

AD

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Q

What type of Genetic Disorder?
AD
AS
X-D
X-S

Familial hypercholesterolemia

A

AD

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Q

What type of Genetic Disorder?
AD
AS
X-D
X-S

Acute Intermittent Porphyria

A

AD

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Q

What type of Genetic Disorder?
AD
AS
X-D
X-S

Cystic fibrosis

A

AS

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Q

What type of Genetic Disorder?
AD
AS
X-D
X-S

Phenylketonuria

A

AS

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Q

What type of Genetic Disorder?
AD
AS
X-D
X-S

Galactosemia

A

AS

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Q

What type of Genetic Disorder?
AD
AS
X-D
X-S

Homocystinuria

A

AS

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What type of Genetic Disorder? AD AS X-D X-S Lysosomal Storage Diseases

AS

What type of Genetic Disorder? AD AS X-D X-S a-1 antitrypsin deficiency

AS

What type of Genetic Disorder? AD AS X-D X-S Wilson disease

AS

What type of Genetic Disorder? AD AS X-D X-S Hemochromatosis

AS

What type of Genetic Disorder? AD AS X-D X-S Glycogen storage diseases

What type of Genetic Disorder? AD AS X-D X-S Sickle Cell Anemia

AS

What type of Genetic Disorder? AD AS X-D X-S Thalassemias

AS

What type of Genetic Disorder? AD AS X-D X-S Congenital Adrenal Hyperplasia

AS

What type of Genetic Disorder? AD AS X-D X-S Alkaptonuria

AS

What type of Genetic Disorder? AD AS X-D X-S Neurogenic muscular atrophies

AS

What type of Genetic Disorder? AD AS X-D X-S Friedrich ataxia

AS

What type of Genetic Disorder? AD AS X-D X-S Spinal muscular atrophy

AS

Defect in Tay Sachs Disease

Hexosaminidase

Defect in Niemann-Pick Disease

Sphingomyelinase

Cherry red spot in macula w/o visceral involvement

Tay Sachs disease

Cherry red spot in macula w/ visceral involvement

Niemann-Pick Disease

Zebra bodies

Niemann-Pick Disease

Enzyme deficiency in Pompe dse

a-1,4-Glucosidase

Enzyme deficiency in Gaucher dse

Glucocerebrocidase (B-glucosidase)

Enzyme deficiency in Fabry dse

a-Galactosidase A

Enzyme deficiency in Farber disease

Ceramidase

Enzyme deficiency in Krabbe dse

B-Galactosidase (Galactosylceramidase)

Enzyme deficiency in Metachromatic leukodystrophy

Arylsulfatase A

Enzyme deficiency in Hurler Syndrome (MPS-IH)

a-L-Iduronidase

Enzyme deficiency in Hunter Syndrome (MPS-II)

Iduronate 2-sulphatase

Disorder in aromatic amino acids (phenylalanine and tyrosine)

Alkaptonuria - homogentisic acid oxidase deficiency

Dark blue to black pigmentation in connective tissue and cartilage in Alkaptonuria

Ochronosis

Most common form of hypogonadotropic hypogonadism

Kallman syndrome - failure of olfactory axons and GnRH expressing neurons to migrate from olfactory placode to brain (w/ anosmia) X-Linked:KAL1 - Xp22.3 AD: KAL2 - FGFR1 AS: KISS1 - Kisspeptin

What type of Genetic Disorder? AD AS X-D X-S Duchenne Muscular Dystrophy

XR

What type of Genetic Disorder? AD AS X-D X-S Hemophilia A and B

What type of Genetic Disorder? AD AS X-D X-S XR

What type of Genetic Disorder? AD AS X-D X-S Chronic granulomatous disease

XR

What type of Genetic Disorder? AD AS X-D X-S G6PD

XR

What type of Genetic Disorder? AD AS X-D X-S Agammaglobulinemia

XR

What type of Genetic Disorder? AD AS X-D X-S Wiskott-Aldrich syndrome

XR

What type of Genetic Disorder? AD AS X-D X-S DI

XR

What type of Genetic Disorder? AD AS X-D X-S Lesch-Nyhan syndrome

XR

What type of Genetic Disorder? AD AS X-D X-S Fragile X syndrome

XR

What type of Genetic Disorder? AD AS X-D X-S Alport syndrome

XD

What type of Genetic Disorder? AD AS X-D X-S Vitamin D-resistant rickets

XD

Gaucher disease is a generic risk factor for

Parkinsons disease

Crumpled tissue paper appearance of cytoplasm

Gaucher cells

Arsenic

Lung, Skin cancer

Asbestos

Lung, esophagus, stomach, colon, mesothelioma

Benzene

AML

Beryllium

Lung cancer

Cadmium

Prostate ca

Chromium

Lung ca

Nickel

Lung and oropharynx ca

Radon

Lung ca (#1)

Vinyl chloride

Hepatic angiosarcoma

Estrogen

Breast and endometrial ca

Androgen

Prostate ca

Select tumor markers: hCG

Trophoblastic tumors Non-seminomatous germ cell tumors

Select tumor markers: calcitonin

Medullary thyroid carcinoma

Select tumor markers: catecholamines and metabolites

Pheomchromocytoma

Select tumor markers: alpha-fetoprotein

Hepatocellular carcinoma Non-seminomarous germ cell tumors of testis (Yolk sac tumors)

Select tumor markers: Carcinoembryogenic antigen (CEA)

Colorectal, pancreas, lung, stomach, heart carcinoma

Select tumor markers: immunoglobulins

Multiple myeloma, other gammopathies

Select tumor markers: PSA and PSMA

Prostate CA

Select tumor markers: CA 125

Ovarian ca

Select tumor markers: CA 19-9

Colon and pancreatic ca

Select tumor markers: CA 15-3

Breast ca

One dominant allele is enough to produce phenotype (heterozygous)

Autosomal dominant (AD)

AD disorder characterized by a defect in fibrillin-1 gene (chromosome 15)

Marfan syndrome

Most striking feature in Marfan syndrome

Skeletal abnormalities e.g. pectus excavatum / carinatum, dolichocephalic, kyphosis/scoliosis

Most life-threatening feature in Marfan syndrome

Cardiovascular abnormalities e.g. MVP, aortic dissection, aortic insufficiency

Two recessive alleles produce phenotype

Autosomal recessive (AR)

AR disorder with a defect in hexosaminidase A causing accumulation of GM2 ganglioside in neurons and retina

Tay-Sachs disease

AR disorder with sphingomyelinase deficiency

Niemann-Pick disease

Most common lysosomal storage disorder; (+) crumpled tissue paper on PAS; deficiency in glucocerebrocidase

Gaucher disease

Usually males express phenotype; Females may express the phenotype (due to inactivation of one X chromosome)

X-linked recessive (XR)

X-linked recessive blood disorders

Hemophilia A and B, G6PD deficiency, CGD

Example of X-linked dominant disorders

Alport syndrome and Vitamin D-resistant rickets

Most common chromosomal disorder; leading cause of mental retardation

Trisomy 21

Edward syndrome

Trisomy 18

Patau syndrome

Trisomy 13

Most common chromosomal abnormality in Klinefelter syndrome

47XXY (90%)

Most consistent finding in Klinefelter syndrome

Hypogonadism

Heart abnormality associated with Klinefelter syndrome

Mitral valve prolapse (50%)

Single most important cause of primary amenorrhea

Turner syndrome

Most common chromosomal defect in Turner Syndrome

Cardiovascular abnormalities (preductal CoA, bicuspid aortic valve, aortic root dilation, aortic dissection)

2nd most common cause of mental retardation after Trisomy 21

Fragile X syndrome

Defect in Fragile X syndrome

CGG expansion

Most distinctive feature in Fragile X syndrome

Macroorchidism

CAG expansion; dementia + movement disorders

Huntington disease

Deletion in paternallyderived chromosome 15; (+) obesity, hyperphagia, short stature

Prader-Willi syndrome

Deletion in maternallyderived chromosome 15; inappropriate laughter “happy puppet

Angelman Syndrome

Examples of mitochondrial disorders (maternal inheritance)

Mitochondrial myopathy, Encephalopathy, Lactic Acidosis and Stroke (MELAS), Leber Hereditary Optic Neuropathy (LHON)

Only cell in the body that can produce antibodies

B Lymphocytes i.e. Plasma cells

Most important antigenpresenting cell for initiating T-cell responses against protein antigens

Dendritic cells

Type of antibody that can cross the placenta

IgG

IgE-mediated type of hypersensitivity

Type I or Immediate hypersensitivity

Examples of Type I hypersensitivity

Asthma, anaphylaxis, allergies

Antibody-mediated type of hypersensitivity

Type II

Examples of type II hypersensitivity

Immune hemolytic anemia, Rheumatic fever, Myasthenia gravis, Goodpasture syndrome, Graves disease

Immune complex-mediated type of hypersensitivity

Type III

Most common sites of immune complex deposition

Kidneys, joints

Examples of type III hypersensitivity

SLE, PSGN, Polyarteritis nodosa, Reactive arthritis

T cell-mediated or delayed type of hypersensitivity

Type IV

Examples of type IV hypersensitivity

RA, T1DM, TST, IBD, Psoriasis, Multiple sclerosis, contact sensitivity

HLA type associated in seronegative spondyloarthropathies

HLA-B27

Most sensitive and best screening test for SLE

AAnti-nuclear antibody (ANA)

Specific test for SLE that correlates with disease activity

Anti-dsDNA

Autoantibody associated with drug-induced lupus

Anti-histone

Autoantibody associated with neonatal lupus and congenital heart block

Anti-Ro (SS-A)/ Anti-La (SSB)

Antiphospholipid antibodies

Anticardiolipin and β2- glycoprotein I

Autoimmune disease directed against lacrimal and salivary glands; (+) xerostomia (dry mouth) & keratoconjunctivitis sicca (dry eyes)

Sjogren syndrome (SS)

Most important and most common associated autoantibodies associated with SS

Anti-Ro (SS-A) Anti-La (SSB)

Earliest histologic finding in SS

Periductal and perivascular lymphocytic infiltration

Most common associated disease with SS

Rheumatoid arthritis

Patients with SS have increased risk to develop what type of malignancy

Lymphoma

EXcessive fibrosis throughout the body

Systemic Sclerosis (Scleroderma)

Type of scleroderma that has widespread skin involvement, rapid progression, early visceral involvement

Diffuse scleroderma

Autoantibody associated with diffuse scleroderma

Anti DNA topoisomerase I (anti-Scl 70)

Type of scleroderma with limited skin and visceral involvement

Limited scleroderma or formerly known as CREST syndrome

Clinical features of CREST syndrome

Calcinosis, Raynaud phenomenon, Esophageal dysmotility, Sclerodactyly, Telangiectasia

Autoantibody associated with limited scleroderma

Anti-centromere

Disease with clinical features that overlap with those of SLE, systemic sclerosis, and polymyositis

Mixed Connective Tissue Disease

Autoantibody associated with mixed connective tissue disease

Anti-U1-RNP

AR disease associated with selectin/integrin abnormalities; (+) delayed separation of the umbilical cord, omphalitis

Leukocyte Adhesion Deficiency

XR disease characterized by NADPH oxidase deficiency; (+) susceptibility to catalasepositive organism

Chronic Granulomatous Disease

XR disease characterized by failure of B cell maturation; respiratory and GIT infections at 6 months of age

Bruton agammaglobulinemia

Defect in DiGeorge syndrome

Chromosome 22q11 deletion→Failure of development of pharyngeal pouches (thymus and parathyroid glands)

Clinical features of DiGeorge syndrome

CATCH22 – Cardiac abnormalities, abnormal facies, thymic aplasia, cleft palate, hypocalcemia/ hypoparathyroidism

Triad of Wiskott-Aldrich Syndrome

Thrombocytopenia (with small platelets), Recurrent infections, Eczema

Most serious secondary immunodeficiency

Acquired immunodeficiency syndrome (AIDS)

Most abundant HIV antigen; detected in screening tests for HIV infection

p24

First stage of infection with HIV; Symptoms include flulike illness, rash, cervical adenopathy, diarrhea, vomiting

Acute Retroviral Syndrome or Acute HIV Syndrome

Examples of AIDS-defining illnesses

Opportunistic infections, secondary neoplasms, CNS disease

Most common fungal infection associated with AIDS

Candidiasis

Most common neoplasm associated with AIDS; causes by HHV-8

Kaposi Sarcoma

Most common type of lymphoma in AIDS

B-cell Lymphoma

Hemodialysis-associated amyloid protein

Aβ2m: β2- microglobulin

Amyloid protein in Alzheimer disease

Aβ: Amyloid precursor protein

Most common and potentially most serious form of organ involvement

Renal involvement

Formation of abundant collagenous stroma in response to parenchymal cells

Desmoplasia

Tumor containing recognizable mature or immature tissues belonging to more than one germ cell layer

Teratoma

Disorganized mass composed of cells indigenous to the involved tissue

Hamartoma

Term applied to heterotopic (misplaced) but organized rest of cells (aka heterotopia, ectopia)

Choristoma

Lack of differentiation; Hallmark of malignancy

Anaplasia

Architectural disarray, loss of orderly maturation, and cytologic atypia confined within the epithelium; “disordered growth”

Dysplasia

Unequivocal marker of malignancy

Metastasis

Route of dissemination typically seen in carcinomas

Lymphatic spread

Route of dissemination typically seen in sarcomas

Hematogenous spread

Most favored sites of hematogenous spread

Lungs, liver

Most common cancer in males

Prostate cancer

Most common cancer in females

Breast cancer

Most common cause of cancer death in both males and females

Lung cancer

Normal gene whose products promote cellular proliferation

Proto-oncogene

Most common type of abnormality involving protooncogenes in human tumors

RAS

Tumor suppressor gene that regulates G1-S checkpoint; governor of proliferation

RB

Most frequently mutated gene in human cancers

TP53

Cancer associated with cholangitis or Opsithorchis viverrini infection

Extrahepatic cholangiocarcinoma

Cancer associated with Hashimoto thyroiditis and Sjogren syndrome

Marginal zone lymphoma

Asbestosis-related cancers

Mesothelioma, lung carcinoma

Cancer associated with Schistosoma haematobium infection

Bladder squamous cell carcinoma

HPV-associated cancers

Oropharyngeal, Cervical, Vulvar, Penile carcinomas

HTLV-1-associated cancer

Adult T cell leukemia/lymphoma

Vinyl chloride-associated cancer

Hepatic angiosarcoma

Cadmium-associated cancer

Prostate cancer

Benzene-associated cancer

Acute myeloid leukemia

Signs and symptoms not referable to the anatomic distribution of the tumor; due to hormones or substances elaborated by the tumor

Paraneoplastic syndrome

Most common endocrinopathy

Cushing syndrome

Most common paraneoplastic syndrome

Hypercalcemia

Serum abnormalities observed in tumor lysis syndrome

Hyperkalemia, hyperphosphatemia, hyperuricemia, hypocalcemia

Tumor marker for medullary thyroid carcinoma

Calcitonin

Tumor marker for hepatocellular carcinoma, nonseminomatous germ cell tumors of testis

α-fetoprotein (AFP)