Portal:RareDisease/News

From WikiPathways

Revision as of 13:47, 28 May 2021

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
• Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses
• 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

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
• 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
• 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