Portal:RareDisease/FeaturedPathways
From WikiPathways
Contents |
Rare diseases in general
Copy number variation syndromes
Laminopathies
Disorders of sex development
CAKUT (congenital anomalies of the kidney and urinary tract)
Lipodystrophy, dyslipidemia and hyperlipidemia
Inborn errors of metabolism
List of featured pathways:
- Pathway:WP2059 - Alzheimers Disease
- Pathway:WP2371 - Parkinsons Disease Pathway
- Pathway:WP2447 - Amyotrophic lateral sclerosis (ALS)
- Pathway:WP3569 - Fanconi Anemia Pathway
- Pathway:WP3584 - MECP2 and Associated Rett Syndrome
- Pathway:WP3853 - ERK Pathway in Huntington's Disease
- Pathway:WP3995 - Prion disease pathway
- Pathway:WP3998 - Prader-Willi and Angelman Syndrome
- Pathway:WP4153 - Degradation pathway of sphingolipids, including diseases
- Pathway:WP4156 - Disorders of Phenylalanine and Tetrahydrobiopterin
- Pathway:WP4157 - GABA metabolism (aka GHB)
- Pathway:WP4220 - Neurotransmitter Disorders
- Pathway:WP4224 - Purine Disorders
- Pathway:WP4225 - Pyrimidine Disorder
- Pathway:WP4228 - Vitamine B6-Dependent and Responsive Disorders
- Pathway:WP4236 - Disorders of the Krebs Cycle
- Pathway:WP4259 - Disorders of Folate Metabolism and Transport
- Pathway:WP4271 - Vitamin B12 Disorders
- Pathway:WP4288 - MTHFR deficiency
- Pathway:WP4292 - Methionine metabolism leading to sulfur amino acids and related disorders
- Pathway:WP4297 - Thiamine Disorders
- Pathway:WP4298 - Viral Acute Myocarditis
- Pathway:WP4299 - Lamin A-processing pathway
- Pathway:WP4312 - Rett syndrome causing genes
- Pathway:WP4320 - The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome
- Pathway:WP4504 - Cysteine and Methionine catabolism
- Pathway:WP4506 - Tyrosine Metabolism
- Pathway:WP4507 - Molybdenum (Moco) cofactor biosynthesis
- Pathway:WP4518 - Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases
- Pathway:WP4519 - Cerebral Organic Acidurias
- Pathway:WP4521 - Glycosylation and related congenital defects
- Pathway:WP4522 - Metabolic pathway of LDL, HDL and TG
- Pathway:WP4523 - Classical pathway of steroidogenesis, including diseases
- Pathway:WP4524 - The alternative pathway of fetal androgen synthesis
- Pathway:WP4535 - Envelope proteins and their potential roles in EDMD physiopathology
- Pathway:WP4540 - Pathways Regulating Hippo Signaling
- Pathway:WP4541 - po-Merlin Signaling Dysregulation
- Pathway:WP4545 - Oxysterols derived from cholesterol
- Pathway:WP4549 - Fragile X Syndrome
- Pathway:WP4577 - Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway
- Pathway:WP4595 - Urea cycle and associated pathways
- Pathway:WP4656 - Joubert Syndrome
- Pathway:WP4657 - 22q11.2 Deletion Syndrome
- Pathway:WP4673 - Genes involved in male infertility
- Pathway:WP4686 - Leucine, isoleucine and valine metabolism
- Pathway:WP4688 - Serine metabolism
- Pathway:WP4746 - Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism
- Pathway:WP4792 - Purine metabolism
- Pathway:WP4803 - Ciliopathies
- Pathway:WP4804 - Cholesterol biosynthesis with skeletal dysplasias
- Pathway:WP4814 - Somatic Sex determination
- Pathway:WP4823 - Genes controlling renal nephrogenesis
- Pathway:WP4830 - GDNF/RET signalling axis
- Pathway:WP4835 - Peroxiredoxin 2 induced ovarian failure
- Pathway:WP4842 - Mammalian disorder of sexual development
- Pathway:WP4844 - The influence of laminopathies on Wnt signaling
- Pathway:WP4871 - Kisspeptin/Kisspeptin Receptor System in the Ovary
- Pathway:WP4879 - Interacting Laminopathic Pathways
- Pathway:WP4905 - 1q21.1 copy number variation syndrome
- Pathway:WP4906 - 3q29 copy number variation syndrome
- Pathway:WP4932 - 7q11.23 copy number variation syndrome
- Pathway:WP4940 - 15q11.2 copy number variation syndrome
- Pathway:WP4942 - 15q13.3 copy number variation syndrome
- Pathway:WP4947 - Nitric oxide metabolism in cystic fibrosis
- Pathway:WP4949 - 16p11.2 proximal deletion syndrome
- Pathway:WP4950 - 16p11.2 distal deletion syndrome
- Pathway:WP4971 - Phosphoinositides metabolism
- Pathway:WP5026 - Proline and hydroxyproline pathways
- Pathway:WP5028 - Glycine metabolism, including IEMs
- Pathway:WP5029 - Amino acid transport defects
- Pathway:WP5030 - Ethylmalonic encephalopathy
- Pathway:WP5031 - Biotin metabolism, including IEMs
- Pathway:WP5037 - Riboflavin and CoQ disorders
- Pathway:WP5052 - Nephrogenesis
- Pathway:WP5053 - Development of uretric collection system
- Pathway:WP5074 - Kallmann syndrome
- Pathway:WP5087 - Malignant pleural mesothelioma
- Pathway:WP5101 - Congenital generalized lipodystrophy (CGL)
- Pathway:WP5102 - Familial partial lipodystrophy (FPLD)
- Pathway:WP5103 - Progeria-associated lipodystrophy
- Pathway:WP5104 - Acquired partial lipodystrophy / Barraquer-Simons syndrome
- Pathway:WP5105 - Meta pathway lipodystrophy, dyslipidemia and hyperlipidemia
- Pathway:WP5108 - Familial hyperlipidemia type 1
- Pathway:WP5109 - Familial hyperlipidemia type 2
- Pathway:WP5110 - Familial hyperlipidemia type 3
- Pathway:WP5111 - Familial hyperlipidemia type 4
- Pathway:WP5112 - Familial hyperlipidemia type 5
- Pathway:WP5114 - Nucleotide excision repair in xeroderma pigmentosum