Portal:RareDisease

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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

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100 rare disease pathways

Great thanks to the work of all pathway creators and contributors - young scientists' projects, old scientists' work! We have reached 100 pathways this month!

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Pathways from Blau et al.

Glycosylation and related congenital defects (Homo sapiens) Image does not exist Glycosylation and related congenital defects

View all Pathways digitized from Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by Blau et al.

How to add a pathway to the portal

The list of Featured Pathways is not static and can be updated at any time. If you know of a pathway that should be added, please contact Denise Slenter.