Portal:RareDisease/FeaturedPathways

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Revision as of 10:45, 28 May 2021

Contents

Rare diseases in general

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Alzheimers Disease
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Amyotrophic lateral sclerosis (ALS) (Homo sapiens)
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ERK Pathway in Huntington's Disease
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Ciliopathies
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Fanconi Anemia Pathway (Homo sapiens)
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Fragile X Syndrome
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Joubert Syndrome
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MECP2 and Associated Rett Syndrome (Homo sapiens)
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Pathways Regulating Hippo Signaling
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Parkinsons Disease Pathway
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po-Merlin Signaling Dysregulation
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Prion disease pathway
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Rett syndrome causing genes
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Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism
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Viral Acute Myocarditis (Homo sapiens)
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Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway
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NO metabolism in cystic fibrosis
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Malignant pleural mesothelioma

Copy number variation syndromes

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1q21.1 copy number variation syndrome
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3q29 copy number variation syndrome
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22q11.2 copy number variation syndrome
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Prader-Willi and Angelman Syndrome
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7q11.23 copy number variation syndrome
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15q11.2 copy number variation syndrome
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15q13.3 copy number variation syndrome
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16p11.2 proximal deletion syndrome
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16p11.2 distal deletion syndrome

Laminopathies

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Interacting Laminopathic Pathways
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Lamin A-processing pathway (Homo sapiens)
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The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome (Homo sapiens)
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The influence of laminopathies on Wnt signaling
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Envelope proteins and their potential roles in EDMD physiopathology

Disorders of sex development

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Genes involved in male infertility
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Kisspeptin/Kisspeptin Receptor System in the Ovary
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Mammalian disorder of sexual development
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Peroxiredoxin 2 induced ovarian failure
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Somatic Sex determination
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The alternative pathway of fetal androgen synthesis

CAKUT (congenital anomalies of the kidney and urinary tract)

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Development of uretric collection system
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GDNF/RET signalling axis
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Genes controlling renal nephrogenesis
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Nephrogenesis

Lipodystrophy, dyslipidemia and hyperlipidemia

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Meta pathway lipodystrophy, dyslipidemia and hyperlipidemia
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Familial hyperlipidemia type 1
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Familial hyperlipidemia type 2
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Familial hyperlipidemia type 3
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Familial hyperlipidemia type 4
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Familial hyperlipidemia type 5
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Acquired partial lipodystrophy / Barraquer-Simons syndrome
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Progeria-associated lipodystrophy
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Familial partial lipodystrophy (FPLD)
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Congenital generalized lipodystrophy (CGL)

Inborn errors of metabolism

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Molybdenum (Moco) cofactor biosynthesis
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Cysteine and Methionine catabolism
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Vitamin B12 Disorders
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Thiamine Disorders
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Sulphur Amino Acids
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Disorders of Folate Metabolism and Transport
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MTHFR deficiency (additonal pathway)
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Vitamine B6-Dependent and Responsive Disorders
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Disorders of the Krebs Cycle
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Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses
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Neurotransmitter Disorders
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Purine Disorders
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Pyrimidine Disorders
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Disorders of Phenylalanine and Tetrahydrobiopterin (BH4) Metabolism
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Tyrosine Metabolism
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Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases
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Cerebral Organic Acidurias
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Glycosylation and related congenital defects
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Metabolic pathway of LDL, HDL and TG
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Classical pathway of steroidogenesis, including diseases
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Purine metabolism
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Oxysterols derived from cholesterol
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Urea cycle and associated pathways
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Amino acid transport defects
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Leucine, isoleucine and valine metabolism
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Glycine metabolism, including IEMs
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GABA metabolism (aka GHB)
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Proline and hydroxyproline pathways
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Leucine, isoleucine and valine metabolism
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Glycine metabolism, including IEMs
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GABA metabolism (aka GHB)
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Proline and hydroxyproline pathways
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Serine metabolism
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Biotin metabolism, including IEMs
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Riboflavin and CoQ disorders
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Phosphoinositides metabolism
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Ethylmalonic encephalopathy

List of featured pathways:

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