Portal:RareDisease/FeaturedPathways
From WikiPathways
Contents |
Rare diseases in general
|
Image does not exist Alzheimers Disease |
Image does not exist Amyotrophic lateral sclerosis (ALS) (Homo sapiens) |
Image does not exist ERK Pathway in Huntington's Disease |
Image does not exist Ciliopathies |
|
Image does not exist Fanconi Anemia Pathway (Homo sapiens) |
Image does not exist Fragile X Syndrome |
Image does not exist Joubert Syndrome |
Image does not exist MECP2 and Associated Rett Syndrome (Homo sapiens) |
|
Image does not exist Pathways Regulating Hippo Signaling |
Image does not exist Parkinsons Disease Pathway |
Image does not exist po-Merlin Signaling Dysregulation |
Image does not exist Prion disease pathway |
|
Image does not exist Rett syndrome causing genes |
Image does not exist Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism |
Image does not exist Viral Acute Myocarditis (Homo sapiens) |
Image does not exist Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway |
|
Image does not exist NO metabolism in cystic fibrosis |
Image does not exist Malignant pleural mesothelioma |
Copy number variation syndromes
|
Image does not exist 1q21.1 copy number variation syndrome |
Image does not exist 3q29 copy number variation syndrome |
Image does not exist 22q11.2 copy number variation syndrome |
Image does not exist Prader-Willi and Angelman Syndrome |
|
Image does not exist 7q11.23 copy number variation syndrome |
Image does not exist 15q11.2 copy number variation syndrome |
Image does not exist 15q13.3 copy number variation syndrome |
Image does not exist 16p11.2 proximal deletion syndrome |
|
Image does not exist 16p11.2 distal deletion syndrome |
Laminopathies
|
Image does not exist Interacting Laminopathic Pathways |
Image does not exist Lamin A-processing pathway (Homo sapiens) |
Image does not exist The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome (Homo sapiens) |
Image does not exist The influence of laminopathies on Wnt signaling |
|
Image does not exist Envelope proteins and their potential roles in EDMD physiopathology |
Disorders of sex development
|
Image does not exist Genes involved in male infertility |
Image does not exist Kisspeptin/Kisspeptin Receptor System in the Ovary |
Image does not exist Mammalian disorder of sexual development |
Image does not exist Peroxiredoxin 2 induced ovarian failure |
|
Image does not exist Somatic Sex determination |
Image does not exist The alternative pathway of fetal androgen synthesis |
CAKUT (congenital anomalies of the kidney and urinary tract)
|
Image does not exist Development of uretric collection system |
Image does not exist GDNF/RET signalling axis |
Image does not exist Genes controlling renal nephrogenesis |
Image does not exist Nephrogenesis |
Lipodystrophy, dyslipidemia and hyperlipidemia
|
Image does not exist Meta pathway lipodystrophy, dyslipidemia and hyperlipidemia |
Image does not exist Familial hyperlipidemia type 1 |
Image does not exist Familial hyperlipidemia type 2 |
Image does not exist Familial hyperlipidemia type 3 |
|
Image does not exist Familial hyperlipidemia type 4 |
Image does not exist Familial hyperlipidemia type 5 |
Image does not exist Acquired partial lipodystrophy / Barraquer-Simons syndrome |
Image does not exist Progeria-associated lipodystrophy |
|
Image does not exist Familial partial lipodystrophy (FPLD) |
Image does not exist Congenital generalized lipodystrophy (CGL) |
Inborn errors of metabolism
|
Image does not exist Molybdenum (Moco) cofactor biosynthesis |
Image does not exist Cysteine and Methionine catabolism |
Image does not exist Vitamin B12 Disorders |
Image does not exist Thiamine Disorders |
|
Image does not exist Sulphur Amino Acids |
Image does not exist Disorders of Folate Metabolism and Transport |
Image does not exist MTHFR deficiency (additonal pathway) |
Image does not exist Vitamine B6-Dependent and Responsive Disorders |
|
Image does not exist Disorders of the Krebs Cycle |
Image does not exist Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses |
Image does not exist Neurotransmitter Disorders |
Image does not exist Purine Disorders |
|
Image does not exist Pyrimidine Disorders |
Image does not exist Disorders of Phenylalanine and Tetrahydrobiopterin (BH4) Metabolism |
Image does not exist Tyrosine Metabolism |
Image does not exist Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases |
|
Image does not exist Cerebral Organic Acidurias |
Image does not exist Glycosylation and related congenital defects |
Image does not exist Metabolic pathway of LDL, HDL and TG |
Image does not exist Classical pathway of steroidogenesis, including diseases |
|
Image does not exist Purine metabolism |
Image does not exist Oxysterols derived from cholesterol |
Image does not exist Urea cycle and associated pathways |
Image does not exist Amino acid transport defects |
|
Image does not exist Leucine, isoleucine and valine metabolism |
Image does not exist Glycine metabolism, including IEMs |
Image does not exist GABA metabolism (aka GHB) |
Image does not exist Proline and hydroxyproline pathways |
|
Image does not exist Leucine, isoleucine and valine metabolism |
Image does not exist Glycine metabolism, including IEMs |
Image does not exist GABA metabolism (aka GHB) |
Image does not exist Proline and hydroxyproline pathways |
|
Image does not exist Serine metabolism |
Image does not exist Biotin metabolism, including IEMs |
Image does not exist Riboflavin and CoQ disorders |
Image does not exist Phosphoinositides metabolism |
|
Image does not exist Ethylmalonic encephalopathy |
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 - Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses
- 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 - Sulphur Amino Acids
- 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: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: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: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
