Rare Diseases: Difference between revisions
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* http://www.orpha.net/: Search keywords such as a disease or genes. [https://www.youtube.com/watch?v=4EObfZbMQ3U tutorial] | * http://www.orpha.net/: Search keywords such as a disease or genes. [https://www.youtube.com/watch?v=4EObfZbMQ3U tutorial] | ||
* https://compbio.charite.de/phenomizer/: An open access, web-based tool to assist diagnosis | * https://compbio.charite.de/phenomizer/: An open access, web-based tool to assist diagnosis | ||
* https://rarediseases.org/: NORD (national organisation for rare diseases) | |||
* https://www.eurordis.org/: Rare Diseases Europe | |||
[[Category:Miscellaneous]] | [[Category:Miscellaneous]] |
Revision as of 19:06, 20 September 2022
Family history: multiple affected siblings or individuals in multiple generations. Remember that lack of a family history does NOT rule out genetic causes.
G: group of congenital anomalies: Common anatomic variations are, well, common; but two or more anomalies are much more likely to indicate the presence of a syndrome with genetic implications.
E: extreme or exceptional presentation of common conditions: Early onset cardiovascular disease, cancer, or renal failure. Unusually severe reaction to infectious or metabolic stress. Recurrent miscarriage. Bilateral primary cancers in paired organs, multiple primary cancers of different tissues
N: neurodevelopmental delay or degeneration: Developmental delay in the paediatric age group carries a very high risk for genetic disorders. Developmental regression in children or early onset dementia in adults should similarly raise suspicion for genetic etiologies
E: extreme or exceptional pathology: Unusual tissue histology, such as pheochromoctyoma, acoustic neuroma, medullary thyroid cancer, multiple colon polyps, plexiform neurofibromas, multiple exostoses, most paediatric malignancies.
S: surprising laboratory values: Markedly abnormal pathology results
Resources
- Rare Disease 101 course: https://learn.m4rd.org/
- https://www.findzebra.com/: Open access, web-based tool specifically to assist rare disease diagnosis. Start with two most specific terms.
- http://www.omim.org/: The OMIM database is a comprehensive compendium of human genes and genetic phenotypes
- http://www.orpha.net/: Search keywords such as a disease or genes. tutorial
- https://compbio.charite.de/phenomizer/: An open access, web-based tool to assist diagnosis
- https://rarediseases.org/: NORD (national organisation for rare diseases)
- https://www.eurordis.org/: Rare Diseases Europe