1369 results
Inherited Colorectal Cancer (CRS) Syndromes
Adenomatous Polyposis Syndromes:
 • Familial Adenomatous Polyposis (FAP), Attenuated FAP (AFAP), MUTYH
Colorectal Cancer (CRS) Syndromes ... Adenomatous Polyposis Syndromes ... Urinary → Lynch Syndrome ... " • Autosomal Dominant ... Peutz-Jeghers Syndrome
Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
-
Marfan Syndrome ... fibrillin function - Autosomal ... Dominant #Marfans #Syndrome
Inherited Non-hemolytic Disorders of Hyperbilirubinemia 

== Disorders of Conjugation ==
Gilbert Syndrome:
 • 5-10% of the population
• An autosomal ... a super rare, autosomal ... Type II CN is an autosomal ... : • Autosomal ... Dubin-Johnson: • Autosomal
Von Recklinghausen's Syndrome - Neurofibromatosis Type 1 (NF1) 
Hereditary multiple neurofibromas. 
Autosomal dominant with high rate
Recklinghausen's Syndrome ... Autosomal dominant ... VonRecklinghausens #Syndrome
Peutz–Jeghers Syndrome
An autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the
Peutz–Jeghers Syndrome ... An autosomal dominant ... Peutz #Jeghers #Syndrome
Weight Gain / Obesity  - Differential Diagnosis Algorithm
Decreased Expenditure:
 • Sedentary Lifestyle
 • Smoking Cessation
Polycystic Ovarian Syndrome ... • Cushing's Syndrome ... Genetic: • Autosomal ... Dominant • Autosomal
BEE Syndromes - Non-inflammatory Causes

Immune-mediated conditions affecting the Brain, Eye, and Ear

Visual or auditory symptoms in
BEE Syndromes - ... mutations • Autosomal ... OPA1) gene • Autosomal ... recessive—Usher syndrome ... aura #BEE #Syndromes
Lynch Syndrome:
 • "CRC + Endometrial/Ovarian + Stomach + Urinary → Lynch Syndrome"
 • Autosomal Dominant,
Lynch Syndrome: ... Urinary → Lynch Syndrome ... " • Autosomal Dominant ... DeanEhrlich_MD #Lynch #Syndrome
Gitelman Syndrome Pathophysiology
Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-
Gitelman Syndrome ... Pathophysiology Gitelman Syndrome ... is a rare autosomal ... dr_missyhanna #Gitelman #Syndrome
Hamartomatous Polyposis Syndromes - Peutz-Jeghers Syndrome (PJS), Juvenile Polyposis Syndrome (JPS), Cowden Syndrome (CS), Cronkhite-Canada (CC),
Peutz-Jeghers Syndrome ... (JPS), Cowden Syndrome ... Peutz-Jeghers Syndrome ... Tumor → PJS" - Autosomal ... Gastric CA JPS" - Autosomal