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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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
- The influence of laminopathies on Wnt signaling
- Mammalian disorder of sexual development
- Kisspeptin/Kisspeptin Receptor System in the Ovary
- Regucalcin in proximal tubule epithelial kidney cells
- Peroxiredoxin 2 induced ovarian failure
- GDNF/RET signalling axis
- Conversion of Angiotensinogen to Angiotensin II
- Purine metabolism
- Genes controlling renal nephrogenesis
- Somatic Sex determination
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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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MECP2 and Associated Rett Syndrome (Homo sapiens)  MECP2 and Associated Rett Syndrome |
| View all Featured Pathways for this Portal |
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.
Pathways from Blau et al.
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 Classical pathway of steroidogenesis, including diseases | 
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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.
