Portal:RareDisease/FeaturedPathways

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Contents

Rare diseases in general

Alzheimers Disease
Amyotrophic lateral sclerosis (ALS) (Homo sapiens)
ERK Pathway in Huntington's Disease
Ciliopathies
Fanconi Anemia Pathway (Homo sapiens)
Fragile X Syndrome
Joubert Syndrome
MECP2 and Associated Rett Syndrome (Homo sapiens)
Pathways Regulating Hippo Signaling
Parkinsons Disease Pathway
po-Merlin Signaling Dysregulation
Prion disease pathway
Rett syndrome causing genes
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Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism
Viral Acute Myocarditis (Homo sapiens)
Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway
Nitric oxide metabolism in cystic fibrosis
Malignant pleural mesothelioma
Cholesterol biosynthesis with skeletal dysplasias
Nucleotide excision repair in xeroderma pigmentosum

Copy number variation syndromes

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 proximal deletion syndrome
16p11.2 distal deletion syndrome

Laminopathies

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

Disorders of sex development

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

CAKUT (congenital anomalies of the kidney and urinary tract)

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

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

Molybdenum (Moco) cofactor biosynthesis
Cysteine and Methionine catabolism
Vitamin B12 Disorders
Thiamine Disorders
Methionine metabolism leading to sulfur amino acids and related disorders
Disorders of Folate Metabolism and Transport
MTHFR deficiency (additonal pathway)
Vitamine B6-Dependent and Responsive Disorders
Disorders of the Krebs Cycle
Degradation pathway of sphingolipids, including diseases
Neurotransmitter Disorders
Purine Disorders
Pyrimidine Disorders
Disorders of Phenylalanine and Tetrahydrobiopterin (BH4) Metabolism
Tyrosine Metabolism
Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases
Cerebral Organic Acidurias
Glycosylation and related congenital defects
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Metabolic pathway of LDL, HDL and TG
Classical pathway of steroidogenesis, including diseases
Purine metabolism
Oxysterols derived from cholesterol
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
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

List of featured pathways:

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