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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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Neurofibromatosis - MBNF - PSA
Neurofibromatosis Type 1
Neurofibromatosis Type 2
neurofibromatosis type 1 as cause p. 71, 495
neurofibromatosis type 1 and p. 71, 495
neurofibromatosis type 1 as cause p. 71, 630
neurofibromatosis type I as cause p. 495
With neurofibromatoses, neuro refers to the nerves, fibro- refers to fibrous tissue, and -oma means growth, or tumor.
So neurofibromatosis refers to fibrous tumors originating from the nervous system.
The body’s central nervous system is made up of the brain and the spinal cord, which are surrounded by three protective layers called the meninges.
Part of the central nervous system are the cranial nerves, which originate in the brainstem and innervate the head and neck, and the spinal nerves, which originate in the spinal cord, and supply the rest of the body.
Each nerve is surrounded by a nerve sheath, which is produced by cells called fibroblasts.
Inside, each nerve there are several fascicles, and each fascicle, in turn, is made up of several axons.
The axons are the long projections of neurons, that carry the information as electrical signals running up and down their length.
Along the axon there are cells called Schwann cells, which produce a myelin cover for the axon.
The myelin helps electrical signals travel along the axon faster.
Now, neurofibromatoses are genetic diseases which cause non-cancerous growths to form in the body’s nerve tissue, and there are two types - type I and type II.
They’re caused by inheriting faulty copies of either the NF1 or NF2 gene, which are found on chromosomes 17 and 22, respectively.
Just remember, NF1 goes with chromosome 17 and NF2 goes with chromosome 22.
Both of these have an autosomal dominant inheritance pattern, so a child only needs one faulty copy from either parent to get the disease.
Normally, these are tumor suppressor genes, which means they stop cells from dividing uncontrollably.
Neurofibromatosis is a genetic disorder characterized by fibrous tumors that affect the development and function of the nervous system. There are three known types of neurofibromatosis: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis.
NF1 is due to a mutation in the NF1 gene on chromosome 17, and generally affects the skin and extremities. NF1 causes cutaneous neurofibromas (benign tumors that grow from the nerve sheath), caf-au-lait spots (flat patches with milky-coffee color), and Lisch nodules (small tan colored bumps).
NF2 is caused by a mutation in the NF2 gene on chromosome 22, and is associated with bilateral acoustic neuromas that can cause tinnitus, and bilateral gradual loss of hearing. NF2 is also associated with multiple meningiomas in the brain and spinal cord.
Schwannomatosis is a rare form of neurofibromatosis, characterized by multiple schwannomas, pain, and numbness in the affected areas. Unlike NF2, schwannomatosis spare the vestibular nerve.
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