Portal:RareDisease
From WikiPathways
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.
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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Explore rare disease pathways on WikiPathways:
- MECP2 and Associated Rett Syndrome
- Amyotrophic lateral sclerosis (ALS) SOD1 - CHMP2B MODEL
- Fanconi Anemia Pathway
- The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome
- Lamin A-processing pathway
- Viral Acute Myocarditis
- Disorders of Phenylalanine and Tetrahydrobiopterin (BH4) Metabolism
- Tyrosine Metabolism
- Sulphur Amino Acids
- Disorders of Folate Metabolism and Transport
- MTHFR deficiency (additional pathway)
- Vitamine B6-Dependent and Responsive Disorders
- Molybdenum (Moco) cofactor biosynthesis
- Cysteine and Methionine catabolism
- Vitamin B12 Disorders
- Thiamine Disorders
- Disorders of the Krebs Cycle
- Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses
- Neurotransmitter Disorders
- Purine Disorders
- Pyrimidine Disorders
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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.
Featured Pathway
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Thiamine metabolic pathways (Homo sapiens)  Thiamine metabolic pathways |
| View all Featured Pathways for this Portal |
Special Issue: Rare diseases
We are currently planning to have a workshop on the development of new rare disease pathways, and using experimental FAIR data organized by the EJP RD later this year. Let us know if you are interested.
Funding
This project has received funding from the European Union’s Horizon 2020 research and innovation programme.
