00:00 / 00:00
Evolution and natural selection
Independent assortment of genes and linkage
Mendelian genetics and punnett squares
Alagille syndrome (NORD)
Familial adenomatous polyposis
Multiple endocrine neoplasia
Polycystic kidney disease
Treacher Collins syndrome
von Hippel-Lindau disease
Gaucher disease (NORD)
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Niemann-Pick disease type C
Niemann-Pick disease types A and B (NORD)
Primary ciliary dyskinesia
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Cri du chat syndrome
Fragile X syndrome
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Ornithine transcarbamylase deficiency
Autosomal trisomies: Pathology review
Miscellaneous genetic disorders: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
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Von Hippel-Lindau Disease
Adult CNS Tumors
Von Hippel-Lindau disease
von Hippel-Lindau disease p. 541, 727
Von Hippel-Lindau disease p. 541
von Hippel-Lindau disease p. 541
chromosome association p. 62
presentation p. 727
renal cell carcinoma and p. 619
tumor suppressor genes and p. 220
Von-Hippel Lindau or VHL is a genetic disease that affects people of all ethnicities and is characterized by tumor development in the CNS, kidneys, adrenal glands and pancreas.
Okay, the VHL gene is a tumor suppressor gene on the short arm of chromosome 3.
It codes for proteins that degrade hypoxia-inducible transcription factor, or HIF. HIF upregulates genes that code for platelet-derived and vascular endothelial growth factors, both of which promote new blood vessel formation and cell growth.
In VHL disease, this tumor suppressor gene is mutated which increases HIF, PDGF, VEGF, and ultimately the risk of tumor formation.
VHL disease is about as common as Huntington Disease, occurring in 1 in 36,000 people.
It is inherited in an autosomal dominant pattern, meaning that a VHL patient has a 50% chance of passing it on to each kid they have.
20% of VHL patients have a de novo or new mutation, meaning they are the first VHL patient in their family.
Alright, the most common tumor type in VHL is hemangioblastoma, a benign blood vessel tumor occurring in about 60% of VHL patients.
In the central nervous system, these can occur in the retina, brain, and spinal cord.
In the eyes, it can cause blindness by detaching the retina.
In the brain and spinal cord, a tumor or the accompanying cyst causes problems when it pushes against surrounding tissue.
For example, if the tumor is in the cerebellum, it can cause ataxia, or the loss of balance.
If it blocks the flow of cerebrospinal fluid, intracranial pressure can rise causing headaches, nausea, and vomiting.
Less common are benign cysts and cyst-like tumors called cystadenomas.
The most concerning, occurring in ~25% of VHL patients, is the endolymphatic sac tumor of the inner ear which can cause deafness.
Von-Hippel Lindau (VHL) is a genetic disease that increases the risk of tumor formation in the CNS, kidneys, adrenal glands, and pancreas. It is caused by a mutated tumor suppressor gene, VHL, which increases the risk of tumor formation by upregulating genes that promote cell growth. VHL is inherited in an autosomal dominant pattern and can lead to various benign and malignant tumors. Hemangioblastoma is the most common tumor type, occurring in about 60% of VHL patients, followed by clear cell renal cell carcinoma, pancreatic neuroendocrine tumors, and pheochromocytomas. Regular surveillance is crucial for improving quality of life and lifespan. Treatment recommendations depend on the tumor type and aim to preserve the function of the affected organ.
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