Term
|
Definition
1. Rheumatoid Arth
2. SLE
3. DM 1 |
|
|
Term
|
Definition
1. Ankylosing Spondylitis
2. Reiter's Sydrome
3. Psoriatic Arthritis |
|
|
Term
|
Definition
|
|
Term
|
Definition
| Truncus arteriosus, tetralogy of Fallot |
|
|
Term
|
Definition
|
|
Term
|
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
|
|
Term
Bruton's Agammaglobulinemia
MOI |
|
Definition
|
|
Term
Wiskott-Aldrich Syndrome
MOI |
|
Definition
|
|
Term
Chediak-Higashi Syndrome
MOI |
|
Definition
|
|
Term
Ataxia Telengiectasia
MOI |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| PAIR: Psoriasis, Ankylosing spondylitis, Inflammatory bowel disease, Reiter's syndrome |
|
|
Term
|
Definition
|
|
Term
|
Definition
1. Multiple sclerosis
2. hay fever
3. SLE
4. Goodpasutre's |
|
|
Term
|
Definition
|
|
Term
|
Definition
| Pernicious Anemia, Hashimoto's thyroiditis |
|
|
Term
|
Definition
| Steroid Responsive Nephrotic Syndrome |
|
|
Term
|
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
|
|
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
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| Burkitt's Lymphoma, c-myc |
|
|
Term
|
Definition
| follicular lymphoma and diffuse large B cell lymphoma bcl-2 |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| Mantle Cell lymphoma, cyclin D1 |
|
|
Term
| Virchow's/Left Supraclavicular Node Mass |
|
Definition
|
|
Term
|
Definition
|
|
Term
Xeroderma Pigmentosum
MOI |
|
Definition
|
|
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
|
|
Term
|
Definition
f(x): nonreceptor tyrosine kinase
Mutation: t(9;22)
ca: CML |
|
|
Term
|
Definition
f(x): receptor synthesis
mutation: amplification
Ca: breast carcinoma |
|
|
Term
|
Definition
f(x): nuclear transcription
mutation: t(8;14)
ca: Burkitt's Lymphoma |
|
|
Term
|
Definition
f(x): nuclear transcription
mutation: amplification
Ca: neuroblastoma |
|
|
Term
|
Definition
f(x): guanosine triphosphate signal transduction
mutation: point mutation
ca: leukeimia and carcinomas of the lung, colon and pancreas |
|
|
Term
|
Definition
f(x): receptor synthesis
mutation: point mutation
ca: MEN IIa/IIb |
|
|
Term
|
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
|
Definition
|
|
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
|
Definition
|
|
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
|
Definition
|
|
Term
|
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
|
Definition
AKA Lynch syndrome
mutation in mismatch repair genes
~80% progress to CRC
Proximal colon |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| Presentation and MOI of Osler-Weber-Rendu syndrome |
|
Definition
nose-bleeds and skin discolorations
Auto-dominant inheritance
AKA hereditary hemorrhagic telangiectasia
|
|
|
