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 funded by:

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Get information

Explore rare disease pathways on WikiPathways:

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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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

Pyrimidine metabolism and related diseases (Homo sapiens)

Pyrimidine metabolism and related diseases
Pyrimidine metabolism and related diseases
View all Featured Pathways for this Portal

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Special Issue: Rare Disease Day 2020

The international rare disease day is approaching: 29.02.2020!

There will be a special curation café held in Maastricht 27.02.2020 at 3 pm CET with updates on current developments in the EJP-RD project and rare disease pathway curation.

Let us know if you are interested to join by mail.

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Pathways from Blau et al.


Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases (Homo sapiens)

Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases
Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including 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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