Diseases Flashcards
1
Q
McCune-Albright Syndrome
A
Somatic Mosaicism disease
- activating mutations in G stimulators proteins (Gs) early in development
- clinical phenotype varies based on tissue distro of mutation
- ovarian cysts –> precocious puberty
- polyostotic fibrous dysplasia
- cafe-au-lait skin pigmentation
- growth hormone-secreting pituitary adenoma
- autonomous thyroid nodules
2
Q
Prader-Willi Syndrome
A
Genetic disease 2/2 Imprinting or uniparental disomy
- phenotype: diminished fetal activity, obesity, hypotonia, mental retardation, short stature, hypogonadotrophic hypogonadism
- deletion of paternal copy of locus on short arm chromosome 15 –> missing paternal copies of necdin and SNRPN genes
3
Q
Angelman’s Syndrome
A
Generic disease 2/2 imprinting or uniparental disomy
- phenotype: mental retardation, seizures, ataxia, hypotonia
- maternal deletion on short arm of chromosome 15 – > missing necdin and SNPRN genes
4
Q
Beckwith-Weidmann Syndrome
A
Genetic Disease 2/2 imprinting
- expression of both maternal and paternal IGF-II allele, normally maternal copy is inactive
- mutation of H19 which encodes a non-translated RNA which normally targets maternal locus for IGF-II for methylation –> imprinting inactivation
- somatic overgrowth and organomegallies and hemihypertrophy
- increased risk of embryonal malignancies such as Wilms’ tumor
5
Q
Kennedy’s Syndrome
A
X-Linked Triuncelotide Repeat
- Spinal and Bulbar muscular atrophy (SBMA)
- defective androgen receptor
6
Q
Sweet’s Syndrome
A
Aka acute febrile neutrophilic dermatosis
Peripheral neutrophilia, fever, erythematous plaques
A/w acute leukemia in 20% of patients
