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Genetcs of Dz
Methods of inheritance, HLA Assoc, chromosomal abnormalities
67
Medical
Graduate
05/19/2010

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Cards

Term
HLA-DR4
Definition
1. Rheumatoid Arth
2. SLE
3. DM 1
Term
HLA-B27
Definition
1. Ankylosing Spondylitis
2. Reiter's Sydrome
3. Psoriatic Arthritis
Term
HLA-DQ
Definition
SLE
Term
22q11
Definition
Truncus arteriosus, tetralogy of Fallot
Term
Chrom 7
Definition
CFTR regulator in CF
Term
22q11 microdeletion
Definition
DiGeorge Syndrome - defect in formation of the 3rd and 4th pharyngeal pouches leading to an absent parathyroid and thymus.
Term
SCID- IL-2 receptor deficiency
MOI
Definition
X-linked
Term
Bruton's Agammaglobulinemia
MOI
Definition
X-linked recessive
Term
Wiskott-Aldrich Syndrome
MOI
Definition
X-linked
Term
Chediak-Higashi Syndrome
MOI
Definition
Auto-recessive
Term
Ataxia Telengiectasia
MOI
Definition
Auto-recessive
Term
HLA-A3
Definition
Hemachromatosis
Term
HLA-B27
Definition
PAIR: Psoriasis, Ankylosing spondylitis, Inflammatory bowel disease, Reiter's syndrome
Term
HLA-B8
Definition
Graves' Dz
Term
HLA-DR2
Definition
1. Multiple sclerosis
2. hay fever
3. SLE
4. Goodpasutre's
Term
HLA-DR3
Definition
DM-1
Term
HLA- DR5
Definition
Pernicious Anemia, Hashimoto's thyroiditis
Term
HLA-DR7
Definition
Steroid Responsive Nephrotic Syndrome
Term
G6PD
Definition
X-linked
Black and Middle Eastern/Mediterranean populations
Protective against P. falciparum
Term
Pyruvate Kinase Deficiency
MOI and Characteristics
Definition
Auto-recessive
Leads to Chronic Anemia
Term
Hereditary Spherocytosis
MOI
Definition
Auto-Dominant
Term
von Willenbrand's Dz
MOI and Characteristics
Definition
Auto-Dominant
MC hereditary bleeding d/o
Term
Bernard-Soulier Dz
MOI and Characteristics
Definition
Auto-recessive
Platelets lack surface glycoprotein Ib and can't adhere to vWF in damaged BVs.
Term
Hemophilia A
MOI and Characteristics
Definition
X-Linked recessive
Deficiency in F VIII
Term
Hemophilia B
MOI and Characteristics
Definition
X-linked recessive
deficiency in F IX
Term
t(9;22)
Definition
CML & ALL
Term
Philadelphia Chromosome
Definition
t(9;22) CML & ALL
Term
t(8;14)
Definition
Burkitt's Lymphoma, c-myc
Term
t(14;18)
Definition
follicular lymphoma and diffuse large B cell lymphoma bcl-2
Term
t(15;17)
Definition
AML M3 subtype
Term
t(11;22)
Definition
Ewing Sarcoma
Term
t(11;14)
Definition
Mantle Cell lymphoma, cyclin D1
Term
Virchow's/Left Supraclavicular Node Mass
Definition
Stomach Cancer
Term
Chromosome for Rb gene
Definition
Chrom 13
Term
Xeroderma Pigmentosum
MOI
Definition
Auto-recessive
Term
Chromosomal instability syndromes
Definition
= problems w/ DNA repair:
1. BRCA 1 and 2
2. XP
3. Wiskott Aldrich
4. Bloom Syndrome
5. Ataxia Telangiectasias
6. Fanconi’s Anemia
Term
Peutz-Jeghers Syndrome
MOI
Definition
Auto-dominant
Term
Oncogene: abl
Definition
f(x): nonreceptor tyrosine kinase
Mutation: t(9;22)
ca: CML
Term
Oncogene: her
Definition
f(x): receptor synthesis
mutation: amplification
Ca: breast carcinoma
Term
oncogene: myc
Definition
f(x): nuclear transcription
mutation: t(8;14)
ca: Burkitt's Lymphoma
Term
oncogene: n-myc
Definition
f(x): nuclear transcription
mutation: amplification
Ca: neuroblastoma
Term
Oncogene: ras
Definition
f(x): guanosine triphosphate signal transduction
mutation: point mutation
ca: leukeimia and carcinomas of the lung, colon and pancreas
Term
Oncogene: ret
Definition
f(x): receptor synthesis
mutation: point mutation
ca: MEN IIa/IIb
Term
Oncogene: sis
Definition
f(x): growth factor synthesis
mutation: overexpression
ca: osteogenic sarcoma, atrocytoma
Term
Sickle Cell Anemia
MOI and Characteristics
Definition
Auto Recessive
Missense substitution of valine for glutamic Acid
Term
Job's Syndrome
Definition
Auto-recessive
Term
Glanzmann's Dz
MOI and Characteristics
Definition
Auto-recessive
absent GpIIb-IIIa ribrinogen receptors
Term
Familial Alzheimer's genes and MOI
early vs. late
Definition
1. APOE4 allele on chrom 19 (auto-dominant)- late
2. p-App gene on chrom 21- early
3. pre-senilin 1 and 2 genes Chrom 1 and 14- early
Term
Von Hippel Lindau MOI and characteristics
Definition

Auto-Dominant Chrom 3

1. Cavernous Hemangiomas in skin, mucosa, organs

2. Renal Cell Carcinoma or hemangioblastoma of retina, brain stem, cerebellum

3. Pheochromocytomas

Term
Tuberous Sclerosis
MOI and characteristics
Definition
Auto-Dominant
1. hamartomas in CNS, skin, organs
2. cardiac rhabdomyomas
3. renal angiomyolipoma
4. subependymal giant cell astrocytomas
5. Mental retardation
6. seizures
7. ash leaf spots
8. sebaceous adenomas
9. shagreen patch
Term
Neurofibromatosis
MOI and characteristics
Definition
Auto Dominant
1. Cafe-au-lait spots
2. Lisch Nodules
3. neurofibromas
Term

Friedreich's ataxia MOI and characteristics

Definition
Auto-recessive tri-nucleotide repeat d/o (GAA) cerebellar lesion
Term
Adrenalleukodystrophy
MOI and characteristics
Definition
X-linked recessive (enzyme deficiency)
1. enzyme deficiency in beta-oxidation of fatty acids in peroxisomes
2. causes a build-up of long-chain fatty acids.
3. results in generalized loss of myelin in the brain
4. adrenal insufficiency.
Term
Krabbe's Dz MOI and Characteristics
Definition

Auto-Recessive

1. classic presentation: blindness and peripheral neuropathy.

2. accumulation of galactocerebroside in large, multinucleated histiocytic cells in the CNS

3. Results in optic atrophy

Term
Metachromic Leukodystrophy MOI and characteristics
Definition

autosomal recessive

1. presents with progressive paralysis, dementia, and ataxia in 1st decade.

2. lysosomal storage disease (accumulation of sulfatides) 3. fatal in the first decade

Term
Huntingdon's Dz Chrom
Definition
Chrom 4, CAG repeat
Term
Hypertrophic Cardiomyopathy
MOI and characteristics
Definition
Auto-dominant
Beta myosin heavy chain gene
Term
Rett's Disorder
MOI and characteristics
Definition
X-linked
Affected boys die in utero or shortly after birth
progressive d/o characterized by loss of development, MR, loss of verbal abilities, ataxia and stereotyped hand-wringing
Term
Kartagener's Syndrome
MOI and characteristics
Definition
Auto Recessive
Trian of infertility (from immotile sperm), chronic respiratory infections (immotile respiratory cilia) and situs inversus
Term
All MEN syndromes
Definition
Auto-Dominant
Term
Pseudohypoparathyroidism
Definition
auto-dominant kidney unresponsiveness to PTH
Hypocalcemia, shortened 4th and 5th digits, short stature
Term
Genetic causes of Kallmann's syndrome
Definition
mutation in KAL-1 or FGFR-1
Term
FAP (MOI and characteristics)
Definition
Auto-dominant mutation of APC gene on chromo 5q
Causes thousands of polyps involving the entire colon and the rectum is always involved
Term
HNPCC
Definition
AKA Lynch syndrome
mutation in mismatch repair genes
~80% progress to CRC
Proximal colon
Term
Wilson's Dz MOI
Definition
Auto-recessive
Term
1o Hemochromatosis
Definition
Auto-recessive
Term
Presentation and MOI of Osler-Weber-Rendu syndrome
Definition

nose-bleeds and skin discolorations

Auto-dominant inheritance

 

AKA hereditary hemorrhagic telangiectasia

 

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