Portal:RareDisease

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Rare Disease pathways at WikiPathways

This portal highlights WikiPathways content related to rare genetic human diseases, and is designed

as a central organizing point for exploring, curating and expanding the collection of rare disease pathways.
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A rare or orphan disease is a disease which affects relatively few people. The exact definition varies
between 1:1000 and 1:200.000. E.g. it can be 1:1500 (USA) , 1:2000 (EU) or 1:2500 (Japan). Rare diseases
are mostly caused by genetic variation making them chronic and hard to cure. The severity depends on
the affected gene and its physiological implications.

This portal is also featured in the latest NAR Database Issue on WikiPathways.

This portal is funded by:

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Get information

Explore rare disease pathways on WikiPathways:

Laminopathy pathways

CAKUT (congenital anomalies of the kidney and urinary tract)

Inborn errors of metabolism

Disorders of sex development and fertility

Copy number variation syndromes (CNVs) - duplications or deletions

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Contact us

Send questions about WikiPathways to the wikipathways-discuss mailing list.

How to add a pathway to the portal

The list of Featured Pathways is not static and can be updated at any time. If you know of a pathway that should be added, please contact the administrator.

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Featured Pathway

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Special Issues:

4.2.2021 - CAKUT pathway curation workshop Bioinformatics pathway modelling experts and biomedical/clinical researchers working together to create improved pathway models of Congenital Anomalies of Kidney and Urinary Tract disorders (CAKUT). Organizers: Friederike Ehrhart, Franz Schäfer, Chris Evelo, Lauren Dupuis


Questions, information etc. mail.

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Pathways from Blau et al.


Pyrimidine metabolism and related diseases (Homo sapiens)

Pyrimidine metabolism and related diseases
Pyrimidine metabolism and related diseases

View all Pathways digitized from Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by Blau et al.


How to add a pathway to the portal

The list of Featured Pathways is not static and can be updated at any time. If you know of a pathway that should be added, please contact Denise Slenter.


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Funding

This project has received funding from the European Union’s Horizon 2020 research and innovation programme.

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