Portal:RareDisease/News
From WikiPathways
Explore rare disease pathways on WikiPathways:
Overview table here: [1]
- MECP2 and Associated Rett Syndrome
- Rett syndrome causing genes
- Amyotrophic lateral sclerosis (ALS)
- Fanconi Anemia Pathway
- Viral Acute Myocarditis
- Degradation pathway of sphingolipids, including diseases
- Pathways Regulating Hippo Signaling
- po-Merlin Signaling Dysregulation
- Fragile X Syndrome
- Neurodegeneration with brain iron accumulation (NBIA) subtypes 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
- Nitric oxide metabolism in cystic fibrosis
- Malignant pleural mesothelioma
- Cholesterol biosynthesis with skeletal dysplasias
- Nucleotide excision repair in xeroderma pigmentosum
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)
- Development of uretric collection system
- Genes controlling nephrogenesis
- Nephrogenesis
- GDNF/RET signalling axis
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
- Kallmann syndrome
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
Lipodystrophy, dyslipidemia and hyperlipidemia
- Meta pathway lipodystrophy, dyslipidemia and hyperlipidemia
- Familial hyperlipidemia type 1
- Familial hyperlipidemia type 2
- Familial hyperlipidemia type 3
- Familial hyperlipidemia type 4
- Familial hyperlipidemia type 5
- Acquired partial lipodystrophy / Barraquer-Simons syndrome
- Progeria-associated lipodystrophy
- Familial partial lipodystrophy (FPLD)
- Congenital generalized lipodystrophy (CGL)
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
- Methionine metabolism leading to sulfur amino acids and related disorders
- 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
- Urea cycle and associated pathways
- Amino acid transport defects
- Leucine, isoleucine and valine metabolism
- Glycine metabolism, including IEMs
- GABA metabolism (aka GHB)
- Proline and hydroxyproline pathways
- Serine metabolism
- Biotin metabolism, including IEMs
- Riboflavin and CoQ disorders
- Phosphoinositides metabolism
- Ethylmalonic encephalopathy
