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:
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
- Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism
- Joubert Syndrome
- Genes involved in male infertility
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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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Purine metabolism and related disorders (Homo sapiens)  Purine metabolism and related disorders |
| 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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 Vitamin B6-dependent and responsive disorders | 
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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.
