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:

Overview table here: [1]

Laminopathy pathways

CAKUT (congenital anomalies of the kidney and urinary tract)

Disorders of sex development and fertility

Copy number variation syndromes (CNVs) - duplications or deletions

Lipodystrophy, dyslipidemia and hyperlipidemia

Inborn errors of metabolism

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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

Disorders of folate metabolism and transport (Homo sapiens)

Disorders of folate metabolism and transport
Disorders of folate metabolism and transport
View all Featured Pathways for this Portal

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Special Issues:

100 rare disease pathways

Great thanks to the work of all pathway creators and contributors - young scientists' projects, old scientists' work! We have reached 100 pathways this month!

Questions, information etc. mail.

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Pathways from Blau et al.


MTHFR deficiency (Homo sapiens)

MTHFR deficiency
MTHFR deficiency

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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