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 also featured in the latest NAR Database Issue on WikiPathways.
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Explore rare disease pathways on WikiPathways:
- MECP2 and Associated Rett Syndrome
- Rett syndrome causing genes
- Amyotrophic lateral sclerosis (ALS)
- Fanconi Anemia Pathway
- Viral Acute Myocarditis
- Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses
- Pathways Regulating Hippo Signaling
- po-Merlin Signaling Dysregulation
- Fragile X Syndrome
- WDR45 autophagy related pathway
- Prion disease pathway
- ERK Pathway in Huntington's Disease
- Parkinsons Disease Pathway
- Alzheimers Disease
- Joubert Syndrome
- Envelope proteins and their potential roles in EDMD physiopathology
- Ciliopathies
- NO metabolism in cystic fibrosis
Laminopathy pathways
- Lamin A-processing pathway
- The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome
- The influence of laminopathies on Wnt signaling
- Interacting Laminopathic Pathways
CAKUT (congenital anomalies of the kidney and urinary tract)
- Conversion of Angiotensinogen to Angiotensin II
- Genes controlling renal nephrogenesis
- Regucalcin in proximal tubule epithelial kidney cells
- GDNF/RET signalling axis
Inborn errors of metabolism
- Neurotransmitter Disorders
- Purine Disorders
- Pyrimidine Disorder
- Purine metabolism
- Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism
- 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
- 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
- Oxysterols derived from cholesterol
- Biotin Metabolism
- Ethylmalonic Encephalopathy
- Amino acid transport defects
- Biochemistry of Glycine metabolism
- Biochemistry of Proline and Hydroxyproline
Disorders of sex development and fertility
- Genes involved in male infertility
- The alternative pathway of fetal androgen synthesis
- Somatic Sex determination
- Mammalian disorder of sexual development
- Kisspeptin/Kisspeptin Receptor System in the Ovary
- Peroxiredoxin 2 induced ovarian failure
Copy number variation syndromes (CNVs) - duplications or deletions
- 1q21.1 copy number variation syndrome
- 3q29 copy number variation syndrome
- 22q11.2 copy number variation syndrome
- Prader-Willi and Angelman Syndrome
- 7q11.23 copy number variation syndrome
- 15q11.2 copy number variation syndrome
- 15q13.3 copy number variation syndrome
- 16p11.2 distal deletion syndrome
- 16p11.2 proximal deletion syndrome
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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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3q29 copy number variation syndrome (Homo sapiens)  3q29 copy number variation syndrome |
| View all Featured Pathways for this Portal |
Special Issue: 59 Rare Disease Pathways and counting
By today 24.6.2020 we have 59 rare disease pathways in our portal. Thanks to all contributors and curators!
Questions, information etc. mail.
Pathways from Blau et al.
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 Thiamine metabolic pathways | 
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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.
