Sickle Cell Disease (SCD)

Hemoglobin
2 Mutant Beta-Globulins (2 Wild Type Alpha-Gb)
11q6 SNP A to T; glutamate to valine

Alpha-1 Anti-Atrypsin Deficiency (A1AT)

Lungs/Liver/Etc.
Uninhibited Tissue Breakdown
14q32.1

Colon Adenocarcinoma

Colon
Polyp [ACP] -> Large [K-ras] -> Malignant [p53/DCC]
Chronic Inflammatory Stress

HNPCC

Colon, Extra-intestinal, Etc.
DNA Mismatch Repair Gene
3p21:MLH1, 2p.21:MSH2, MSH6

Hydrocephalus Ex Vacuo

Cerebrum
Atrophy -> Non-Pressure Communicating H'dro
Alzheimers, Etc.

Carpel Tunnel Syndrome

Carpal bones -[Transverse Carpal Ligament]- Flexor Retinaculum
Median Nerve Compression
Joint (Movement, Arthritis), Deposits (Dialysis, Amyloid), Edema

Acute Lymphoblastic Leukemia

Mediastinum (Thymus)
Pre-B Cells: CD 2-10+, CD 19-20+/SVC Obstruction
cryptic t(12,21), etc.

Huntington's Disease (HD)

GABAnergic Striatal Neurons
Dementia + Choreaform movements + Lat.Ventricular Dilation
4p16.3 = Huntingtin (HTT) gene: -(CAG)- repeats

Romano-Ward Syndrome

Myocarium
K+ Channels -> Q-T length
ANK2, KCN(E1, E2, H2 Q1), SCN5A AD Gene Mutations