Portal:RareDisease/News
From WikiPathways
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* [[Pathway:WP4940|15q11.2 copy number variation syndrome]] | * [[Pathway:WP4940|15q11.2 copy number variation syndrome]] | ||
* [[Pathway:WP4942|15q13.3 copy number variation syndrome]] | * [[Pathway:WP4942|15q13.3 copy number variation syndrome]] | ||
| + | * [[Pathway:WP4950|16p11.2 distal deletion syndrome]] | ||
| + | * [[Pathway:WP4949|16p11.2 proximal deletion syndrome]] | ||
Revision as of 08:56, 28 July 2020
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
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 Deletion Syndrome
- Prader-Willi and Angelman Syndrome
- Williams Beuren region duplication syndrome
- 15q11.2 copy number variation syndrome
- 15q13.3 copy number variation syndrome
- 16p11.2 distal deletion syndrome
- 16p11.2 proximal deletion syndrome
