Multifactorial/Complex Dieseases Flashcards
What are examples of a multifactorial/complex disease?
Type 1 Diabetes (IDDM)
Cleft lip w/ or w/o cleft palate
Cleft palate
Neural tube defects
What are characteristics of multifactorial/complex diseases?
The recurrence risk is increased by:
- the presence of more than one affected relative
- a severe form or an early onset of the disorder
- an affected person of the sex less likely to be affected
What multifactotial/complex disease is caused by autoimmune destruction of the beta cells of the pancreas, which normally produce insulin. Heterozygous for HLADR3 or HLADR4 at MHC class 2 locus?
Type 1 Diabetes (IDDM)
What multifactorial/complex disease has a recurrence rude of 1/500 in Caucasians, 1/2500 in 5 year olds and 1/300 in 18 year olds?
Type 1 Diabetes (IDDM)
What multifactorial/complex disease has the following phenotype:
- hyperglycemic, “starvation”, ketosis/ketoacidosis
Type 1 Diabetes (IDDM)
What multifactorial/complex disease is caused by failure of the fusion of the frontal process with the maxillary process at about the 35th day of gestation. Syndronic CL/P: mutated TBX1, MSX1, or FGFR1 genes, Mendelian single-gene disorder (VWS), chromosomes disorders (trisomy 13 and 4p deletion), teratogenic exposure: virus or drug may also be causes
Cleft lip w/ or w/o cleft palate
What multifactorial/complex disease has a recurrence risk of 1/1000 in the world, 1.7/1000 in japan, 1/1000 in Europe/America, 0.4/1000 in African Americans
Cleft lip w/ or w/o cleft palate
In what multifactorial/complex disease are the people affected 60%-80% males
Cleft lip w/ or w/o cleft palate
What multifactorial/complex disease has increased recurrence risk in siblings of affected family members, high rates seen in native Americans of the SW, higher recurrence risk if clefting is part of a syndrome?
Cleft lip w/ or w/o cleft palate
What multifactorial/complex disease has a recurrence risk of. 0.5/1000?
Cleft palate
What multifactorial/complex disease is caused by amniotic bands, single gene defects, some chromosome disorders, some teratogens, reduced maternal blood folate levels, elevated maternal homocysteine levels
Neural Tube Defects
What multifactorial/complex disease has a recurrence risk of 1/500 in the USA?
Neural Tube Defects
What multifactorial/complex disease has the following phenotype:
- forebrain, overlying meninges, skull vault, and skin are all absent, many are born still born, those born alive only live a few hours. 2/3 affected are female. Spina bifida: failure of fusion of the arches of the vertebrae typically in the lumbar region
Neural Tube Defects
What multifactorial/complex disease can the incidence be reduced by dietary supplementation with 0.8 mg folic acid per day for women planning to get pregnant, reduces incidence of this disease by >75%
Neural Tube Defects
What multifactorial/complex disorder has increased recurrence risk in siblings of affected family members?
Neural Tube Defects
