Portal:RareDisease/News
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==== Explore rare disease pathways on WikiPathways: ==== | ==== Explore rare disease pathways on WikiPathways: ==== | ||
| + | |||
| + | Overview table here: [https://classic.wikipathways.org/index.php?title=Special:CurationTags&showPathwaysFor=Curation%3ARareDiseases] | ||
* [[Pathway:WP3584|MECP2 and Associated Rett Syndrome]] | * [[Pathway:WP3584|MECP2 and Associated Rett Syndrome]] | ||
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* [[Pathway:WP3569|Fanconi Anemia Pathway]] | * [[Pathway:WP3569|Fanconi Anemia Pathway]] | ||
* [[Pathway:WP4298|Viral Acute Myocarditis]] | * [[Pathway:WP4298|Viral Acute Myocarditis]] | ||
| - | * [[Pathway:WP4153| | + | * [[Pathway:WP4153|Degradation pathway of sphingolipids, including diseases]] |
* [[Pathway:WP4540|Pathways Regulating Hippo Signaling]] | * [[Pathway:WP4540|Pathways Regulating Hippo Signaling]] | ||
* [[Pathway:WP4541|po-Merlin Signaling Dysregulation]] | * [[Pathway:WP4541|po-Merlin Signaling Dysregulation]] | ||
* [[Pathway:WP4549|Fragile X Syndrome]] | * [[Pathway:WP4549|Fragile X Syndrome]] | ||
| - | * [[Pathway:WP4577| | + | * [[Pathway:WP4577|Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway]] |
* [[Pathway:WP3995|Prion disease pathway]] | * [[Pathway:WP3995|Prion disease pathway]] | ||
* [[Pathway:WP3853|ERK Pathway in Huntington's Disease]] | * [[Pathway:WP3853|ERK Pathway in Huntington's Disease]] | ||
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* [[Pathway:WP4656|Joubert Syndrome]] | * [[Pathway:WP4656|Joubert Syndrome]] | ||
* [[Pathway:WP4535|Envelope proteins and their potential roles in EDMD physiopathology]] | * [[Pathway:WP4535|Envelope proteins and their potential roles in EDMD physiopathology]] | ||
| + | * [[Pathway:WP4803|Ciliopathies]] | ||
| + | * [[Pathway:WP4947|Nitric oxide metabolism in cystic fibrosis]] | ||
| + | * [[Pathway:WP5087|Malignant pleural mesothelioma]] | ||
| + | * [[Pathway:WP4804|Cholesterol biosynthesis with skeletal dysplasias]] | ||
| + | * [[Pathway:WP5114|Nucleotide excision repair in xeroderma pigmentosum]] | ||
| + | |||
| + | Laminopathy pathways | ||
* [[Pathway:WP4299|Lamin A-processing pathway]] | * [[Pathway:WP4299|Lamin A-processing pathway]] | ||
* [[Pathway:WP4320|The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome]] | * [[Pathway:WP4320|The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome]] | ||
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CAKUT (congenital anomalies of the kidney and urinary tract) | CAKUT (congenital anomalies of the kidney and urinary tract) | ||
| - | * [[Pathway: | + | * [[Pathway:WP5053|Development of uretric collection system]] |
| - | * [[Pathway:WP4823|Genes controlling | + | * [[Pathway:WP4823|Genes controlling nephrogenesis]] |
| - | * [[Pathway: | + | * [[Pathway:WP5052|Nephrogenesis]] |
* [[Pathway:WP4830|GDNF/RET signalling axis]] | * [[Pathway:WP4830|GDNF/RET signalling axis]] | ||
| + | |||
| + | Disorders of sex development and fertility | ||
| + | * [[Pathway:WP4673|Genes involved in male infertility]] | ||
| + | * [[Pathway:WP4524|The alternative pathway of fetal androgen synthesis]] | ||
| + | * [[Pathway:WP4814|Somatic Sex determination]] | ||
| + | * [[Pathway:WP4842|Mammalian disorder of sexual development]] | ||
| + | * [[Pathway:WP4871|Kisspeptin/Kisspeptin Receptor System in the Ovary]] | ||
| + | * [[Pathway:WP4835|Peroxiredoxin 2 induced ovarian failure]] | ||
| + | * [[Pathway:WP5074|Kallmann syndrome]] | ||
| + | |||
| + | Copy number variation syndromes (CNVs) - duplications or deletions | ||
| + | * [[Pathway:WP4905|1q21.1 copy number variation syndrome]] | ||
| + | * [[Pathway:WP4906|3q29 copy number variation syndrome]] | ||
| + | * [[Pathway:WP4657|22q11.2 copy number variation syndrome]] | ||
| + | * [[Pathway:WP3998|Prader-Willi and Angelman 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:WP4950|16p11.2 distal deletion syndrome]] | ||
| + | * [[Pathway:WP4949|16p11.2 proximal deletion syndrome]] | ||
| + | |||
| + | Lipodystrophy, dyslipidemia and hyperlipidemia | ||
| + | * [[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:WP5104|Acquired partial lipodystrophy / Barraquer-Simons syndrome]] | ||
| + | * [[Pathway:WP5103|Progeria-associated lipodystrophy]] | ||
| + | * [[Pathway:WP5102|Familial partial lipodystrophy (FPLD)]] | ||
| + | * [[Pathway:WP5101|Congenital generalized lipodystrophy (CGL)]] | ||
Inborn errors of metabolism | Inborn errors of metabolism | ||
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* [[Pathway:WP4156|Disorders of Phenylalanine and Tetrahydrobiopterin]] | * [[Pathway:WP4156|Disorders of Phenylalanine and Tetrahydrobiopterin]] | ||
* [[Pathway:WP4506|Tyrosine Metabolism]] | * [[Pathway:WP4506|Tyrosine Metabolism]] | ||
| - | * [[Pathway:WP4292| | + | * [[Pathway:WP4292|Methionine metabolism leading to sulfur amino acids and related disorders]] |
* [[Pathway:WP4259|Disorders of Folate Metabolism and Transport]] | * [[Pathway:WP4259|Disorders of Folate Metabolism and Transport]] | ||
* [[Pathway:WP4288|MTHFR deficiency]] | * [[Pathway:WP4288|MTHFR deficiency]] | ||
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* [[Pathway:WP4236|Disorders of the Krebs Cycle]] | * [[Pathway:WP4236|Disorders of the Krebs Cycle]] | ||
* [[Pathway:WP4545|Oxysterols derived from cholesterol]] | * [[Pathway:WP4545|Oxysterols derived from cholesterol]] | ||
| - | + | * [[Pathway:WP5031|Biotin Metabolism]] | |
| - | + | * [[Pathway:WP5030|Ethylmalonic Encephalopathy]] | |
| - | * [[Pathway: | + | * [[Pathway:WP5029|Amino acid transport defects]] |
| - | * [[Pathway: | + | * [[Pathway:WP5028|Biochemistry of Glycine metabolism]] |
| - | * [[Pathway: | + | * [[Pathway:WP5026|Biochemistry of Proline and Hydroxyproline]] |
| - | * [[Pathway: | + | * [[Pathway:WP4595|Urea cycle and associated pathways]] |
| - | * [[Pathway: | + | * [[Pathway:WP5029|Amino acid transport defects]] |
| - | * [[Pathway: | + | * [[Pathway:WP4686|Leucine, isoleucine and valine metabolism]] |
| - | + | * [[Pathway:WP5028|Glycine metabolism, including IEMs]] | |
| - | + | * [[Pathway:WP4157|GABA metabolism (aka GHB)]] | |
| - | * [[Pathway: | + | * [[Pathway:WP5026|Proline and hydroxyproline pathways]] |
| - | * [[Pathway: | + | * [[Pathway:WP4688|Serine metabolism]] |
| - | * [[Pathway: | + | * [[Pathway:WP5031|Biotin metabolism, including IEMs]] |
| - | * [[Pathway: | + | * [[Pathway:WP5037|Riboflavin and CoQ disorders]] |
| + | * [[Pathway:WP4971|Phosphoinositides metabolism]] | ||
| + | * [[Pathway:WP5030|Ethylmalonic encephalopathy]] | ||
Current revision
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
