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.
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Get information
Explore rare disease pathways on WikiPathways:
- MECP2 and Associated Rett Syndrome
- Amyotrophic lateral sclerosis (ALS)
- 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
- Tyrosine Metabolism
- Sulphur Amino Acids
- Disorders of Folate Metabolism and Transport
- MTHFR deficiency
- Vitamine B6-Dependent and Responsive Disorders
- Molybdenum (Moco) cofactor biosynthesis
- Cysteine and Methionine catabolism disorders
- Vitamin B12 Disorders
- Thiamine Disorders
- Disorders of the Krebs Cycle
- Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses
- Neurotransmitter Disorders
- Purine Disorders
- Pyrimidine Disorder
- Pathways Regulating Hippo Signaling
- po-Merlin Signaling Dysregulation
- Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases
- Cerebral Organic Acidurias
- Glycosylation and related congenital defects
- Metabolic pathway of LDL, HDL and TG
- Classical pathway of steroidogenesis, including diseases
- The alternative pathway of fetal androgen synthesis
- Fragile X Syndrome
- WDR45 autophagy related pathway
- Rett syndrome causing genes
- Prion disease pathway
- ERK Pathway in Huntington's Disease
- Envelope proteins and their potential roles in EDMD physiopathology
- Parkinsons Disease Pathway
- Alzheimers Disease
- 22q11.2 Deletion Syndrome
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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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Pathways Regulating Hippo Signaling (Homo sapiens)  Pathways Regulating Hippo Signaling |
| View all Featured Pathways for this Portal |
Special Issue: Workshop planned
We are currently planning to have a workshop and training event on the making of and curation of rare disease pathways organized by the EJP-RD. The workshop will take place 26. - 29.11.2019 in Maastricht University, location Randwyck(how to get there: http://www.euhea2018.eu/venue/travel_to_mecc_maastricht).
Draft scope
- making of rare disease pathways
- making of AOP pathways
- data analysis using pathways
- FAIR data analysis workflows and results
Let us know if you are interested by mail.
Pathways from Blau et al.
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 Purine metabolism | 
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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.
Funding
This project has received funding from the European Union’s Horizon 2020 research and innovation programme.
