2754 results
Lynch Syndrome:
 • "CRC + Endometrial/Ovarian + Stomach + Urinary → Lynch Syndrome"
 • Autosomal Dominant,
Lynch Syndrome" • Autosomal ... Syndrome #diagnosis #management
Angioedema - Classification Diagnosis and Treatment
Types of Angioedema:
 • Acute allergic angioedema - Usually occurs with
angioedema - Rare autosomal ... deficiency - Rare autosomal ... Diagnosis #Treatment #management
Inherited Colorectal Cancer (CRS) Syndromes
Adenomatous Polyposis Syndromes:
 • Familial Adenomatous Polyposis (FAP), Attenuated FAP (AFAP), MUTYH
Lynch Syndrome" • Autosomal ... Syndromes #diagnosis #management
Autosomal Dominant Inheritance
 - Most common mode of Mendelian inheritance 
 - Affected individual carries the
Autosomal Dominant ... one of a pair of autosomes ... #Autosomal #Dominant
Hamartomatous Polyposis Syndromes - Peutz-Jeghers Syndrome (PJS), Juvenile Polyposis Syndrome (JPS), Cowden Syndrome (CS), Cronkhite-Canada (CC),
Tumor → PJS" - Autosomal ... Gastric CA JPS" - Autosomal ... Syndromes #diagnosis #management
Adenomatous Polyposis Syndromes:  Familial Adenomatous Polyposis (FAP), Attenuated FAP (AFAP), MUTYH associated polyposis (MAP)
✓ Genetic
Breast *FAP" - Autosomal ... onset FAP" - Autosomal ... Adenomas, Recessive", Autosomal ... Syndromes #diagnosis #management
Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
-
fibrillin function - Autosomal
Causes of Dilated Cardiomyopathy DCMP - Differential Diagnosis Algorithm
Idiopathic DCMP: Viral, Inflammatory cardiomyopathy, Genetic causes, Unknown
Genetically determined: Autosomal ... dominant, Autosomal
Inherited Non-hemolytic Disorders of Hyperbilirubinemia 

== Disorders of Conjugation ==
Gilbert Syndrome:
 • 5-10% of the population
syndrome • An autosomal ... a super rare, autosomal ... Type II CN is an autosomal ... Syndrome: • Autosomal ... Dubin-Johnson: • Autosomal
Von Recklinghausen's Syndrome - Neurofibromatosis Type 1 (NF1) 
Hereditary multiple neurofibromas. 
Autosomal dominant with high rate
Autosomal dominant