Portal:RareDisease/News

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==== Explore rare disease pathways on WikiPathways: ====
==== Explore rare disease pathways on WikiPathways: ====
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* [[:Pathway:WP3584|MECP2 and Associated Rett Syndrome]]
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Overview table here: [https://classic.wikipathways.org/index.php?title=Special:CurationTags&showPathwaysFor=Curation%3ARareDiseases]
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* [[:Pathway:WP2447|Amyotrophic lateral sclerosis (ALS) SOD1 - CHMP2B MODEL]]
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* [[:Pathway:WP3569|Fanconi Anemia Pathway]]
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* [[Pathway:WP3584|MECP2 and Associated Rett Syndrome]]
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* [[:Pathway:WP4320|The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome]]
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* [[Pathway:WP4312|Rett syndrome causing genes]]
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* [[:Pathway:WP4299|Lamin A-processing pathway]]
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* [[Pathway:WP2447|Amyotrophic lateral sclerosis (ALS)]]
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* [[:Pathway:WP4298|Viral Acute Myocarditis]]
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* [[Pathway:WP3569|Fanconi Anemia Pathway]]
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* [[Pathway:WP4298|Viral Acute Myocarditis]]
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* [[Pathway:WP4153|Degradation pathway of sphingolipids, including diseases]]
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* [[Pathway:WP4540|Pathways Regulating Hippo Signaling]]
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* [[Pathway:WP4541|po-Merlin Signaling Dysregulation]]
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* [[Pathway:WP4549|Fragile X Syndrome]]
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* [[Pathway:WP4577|Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway]]
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* [[Pathway:WP3995|Prion disease pathway]]
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* [[Pathway:WP3853|ERK Pathway in Huntington's Disease]]
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* [[Pathway:WP2371|Parkinsons Disease Pathway]]
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* [[Pathway:WP2059|Alzheimers Disease]]
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* [[Pathway:WP4656|Joubert Syndrome]]
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* [[Pathway:WP4535|Envelope proteins and their potential roles in EDMD physiopathology]]
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* [[Pathway:WP4803|Ciliopathies]]
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* [[Pathway:WP4947|Nitric oxide metabolism in cystic fibrosis]]
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* [[Pathway:WP5087|Malignant pleural mesothelioma]]
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* [[Pathway:WP4804|Cholesterol biosynthesis with skeletal dysplasias]]
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* [[Pathway:WP5114|Nucleotide excision repair in xeroderma pigmentosum]]
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Laminopathy pathways
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* [[Pathway:WP4299|Lamin A-processing pathway]]
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* [[Pathway:WP4320|The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome]]
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* [[Pathway:WP4844|The influence of laminopathies on Wnt signaling]]
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* [[Pathway:WP4879|Interacting Laminopathic Pathways]]
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CAKUT (congenital anomalies of the kidney and urinary tract)
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* [[Pathway:WP5053|Development of uretric collection system]]
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* [[Pathway:WP4823|Genes controlling nephrogenesis]]
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* [[Pathway:WP5052|Nephrogenesis]]
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* [[Pathway:WP4830|GDNF/RET signalling axis]]
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Disorders of sex development and fertility
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* [[Pathway:WP4673|Genes involved in male infertility]]
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* [[Pathway:WP4524|The alternative pathway of fetal androgen synthesis]]
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* [[Pathway:WP4814|Somatic Sex determination]]
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* [[Pathway:WP4842|Mammalian disorder of sexual development]]
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* [[Pathway:WP4871|Kisspeptin/Kisspeptin Receptor System in the Ovary]]
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* [[Pathway:WP4835|Peroxiredoxin 2 induced ovarian failure]]
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* [[Pathway:WP5074|Kallmann syndrome]]
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Copy number variation syndromes (CNVs) - duplications or deletions
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* [[Pathway:WP4905|1q21.1 copy number variation syndrome]]
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* [[Pathway:WP4906|3q29 copy number variation syndrome]]
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* [[Pathway:WP4657|22q11.2 copy number variation syndrome]]
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* [[Pathway:WP3998|Prader-Willi and Angelman Syndrome]]
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* [[Pathway:WP4932|7q11.23 copy number variation syndrome]]
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* [[Pathway:WP4940|15q11.2 copy number variation syndrome]]
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* [[Pathway:WP4942|15q13.3 copy number variation syndrome]]
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* [[Pathway:WP4950|16p11.2 distal deletion syndrome]]
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* [[Pathway:WP4949|16p11.2 proximal deletion syndrome]]
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Lipodystrophy, dyslipidemia and hyperlipidemia
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* [[Pathway:WP5105|Meta pathway lipodystrophy, dyslipidemia and hyperlipidemia]]
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* [[Pathway:WP5108|Familial hyperlipidemia type 1]]
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* [[Pathway:WP5109|Familial hyperlipidemia type 2]]
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* [[Pathway:WP5110|Familial hyperlipidemia type 3]]
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* [[Pathway:WP5111|Familial hyperlipidemia type 4]]
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* [[Pathway:WP5112|Familial hyperlipidemia type 5]]
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* [[Pathway:WP5104|Acquired partial lipodystrophy / Barraquer-Simons syndrome]]
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* [[Pathway:WP5103|Progeria-associated lipodystrophy]]
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* [[Pathway:WP5102|Familial partial lipodystrophy (FPLD)]]
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* [[Pathway:WP5101|Congenital generalized lipodystrophy (CGL)]]
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Inborn errors of metabolism
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* [[Pathway:WP4220|Neurotransmitter Disorders]]
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* [[Pathway:WP4224|Purine Disorders]]
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* [[Pathway:WP4225|Pyrimidine Disorder]]
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* [[Pathway:WP4792|Purine metabolism]]
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* [[Pathway:WP4746|Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism]]
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* [[Pathway:WP4518|Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases]]
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* [[Pathway:WP4519|Cerebral Organic Acidurias]]
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* [[Pathway:WP4521|Glycosylation and related congenital defects]]
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* [[Pathway:WP4522|Metabolic pathway of LDL, HDL and TG]]
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* [[Pathway:WP4523|Classical pathway of steroidogenesis, including diseases]]
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* [[Pathway:WP4156|Disorders of Phenylalanine and Tetrahydrobiopterin]]
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* [[Pathway:WP4506|Tyrosine Metabolism]]
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* [[Pathway:WP4292|Methionine metabolism leading to sulfur amino acids and related disorders]]
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* [[Pathway:WP4259|Disorders of Folate Metabolism and Transport]]
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* [[Pathway:WP4288|MTHFR deficiency]]
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* [[Pathway:WP4228|Vitamine B6-Dependent and Responsive Disorders]]
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* [[Pathway:WP4507|Molybdenum (Moco) cofactor biosynthesis]]
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* [[Pathway:WP4504|Cysteine and Methionine catabolism disorders]]
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* [[Pathway:WP4271|Vitamin B12 Disorders]]
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* [[Pathway:WP4297|Thiamine Disorders]]
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* [[Pathway:WP4236|Disorders of the Krebs Cycle]]
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* [[Pathway:WP4545|Oxysterols derived from cholesterol]]
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* [[Pathway:WP5031|Biotin Metabolism]]
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* [[Pathway:WP5030|Ethylmalonic Encephalopathy]]
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* [[Pathway:WP5029|Amino acid transport defects]]
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* [[Pathway:WP5028|Biochemistry of Glycine metabolism]]
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* [[Pathway:WP5026|Biochemistry of Proline and Hydroxyproline]]
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* [[Pathway:WP4595|Urea cycle and associated pathways]]
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* [[Pathway:WP5029|Amino acid transport defects]]
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* [[Pathway:WP4686|Leucine, isoleucine and valine metabolism]]
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* [[Pathway:WP5028|Glycine metabolism, including IEMs]]
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* [[Pathway:WP4157|GABA metabolism (aka GHB)]]
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* [[Pathway:WP5026|Proline and hydroxyproline pathways]]
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* [[Pathway:WP4688|Serine metabolism]]
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* [[Pathway:WP5031|Biotin metabolism, including IEMs]]
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* [[Pathway:WP5037|Riboflavin and CoQ disorders]]
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* [[Pathway:WP4971|Phosphoinositides metabolism]]
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* [[Pathway:WP5030|Ethylmalonic encephalopathy]]

Current revision

Explore rare disease pathways on WikiPathways:

Overview table here: [1]

Laminopathy pathways

CAKUT (congenital anomalies of the kidney and urinary tract)

Disorders of sex development and fertility

Copy number variation syndromes (CNVs) - duplications or deletions

Lipodystrophy, dyslipidemia and hyperlipidemia

Inborn errors of metabolism

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