Rare Disease pathways at WikiPathways
This page highlights WikiPathways content related to rare genetic human diseases, and is designed as a central organizing point for exploring, curating and expanding the collection of rare disease pathways. A rare or orphan disease is a disease which affects relatively few people. The exact definition varies between 1:1000 and 1:200.000. E.g. it can be 1:1500 (USA) , 1:2000 (EU) or 1:2500 (Japan). Rare diseases are mostly caused by genetic variation making them chronic and hard to cure. The severity depends on the affected gene and its physiological implications.
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Community Pathways
Table FiltersThis community helps to curate 135 pathways:
- 10q11.21q11.23 copy number variation syndrome - WP5352 (Homo sapiens)
- 10q22q23 copy number variation - WP5402 (Homo sapiens)
- 11p11.2 copy number variation syndrome - WP5348 (Homo sapiens)
- 13q12 or CRYL1 copy number variation - WP5405 (Homo sapiens)
- 13q12.12 copy number variation - WP5406 (Homo sapiens)
- 15q11.2 copy number variation syndrome - WP4940 (Homo sapiens)
- 15q11q13 copy number variation - WP5407 (Homo sapiens)
- 15q13.3 copy number variation syndrome - WP4942 (Homo sapiens)
- 15q25 copy number variation - WP5408 (Homo sapiens)
- 16p11.2 distal deletion syndrome - WP4950 (Homo sapiens)
- 16p11.2 proximal deletion syndrome - WP4949 (Homo sapiens)
- 17p13.3 (YWHAE) copy number variation - WP5376 (Homo sapiens)
- 17q12 copy number variation syndrome - WP5287 (Homo sapiens)
- 1p36 copy number variation syndrome - WP5345 (Homo sapiens)
- 1q21.1 copy number variation syndrome - WP4905 (Homo sapiens)
- 22q11.2 copy number variation syndrome - WP4657 (Homo sapiens)
- 2q11.2 copy number variation syndrome - WP5221 (Homo sapiens)
- 2q13 copy number variation syndrome - WP5222 (Homo sapiens)
- 2q21.1 copy number variation syndrome - WP5223 (Homo sapiens)
- 2q37 copy number variation syndrome - WP5224 (Homo sapiens)
- 3q29 copy number variation syndrome - WP4906 (Homo sapiens)
- 4p16.3 copy number variation - WP5365 (Homo sapiens)
- 5q35 copy number variation - WP5380 (Homo sapiens)
- 7q11.23 copy number variation syndrome - WP4932 (Homo sapiens)
- 8p23.1 copy number variation syndrome - WP5346 (Homo sapiens)
- 8q11.23 (RB1CC1) copy number variation - WP5412 (Homo sapiens)
- Acquired partial lipodystrophy / Barraquer-Simons syndrome - WP5104 (Homo sapiens)
- Acute viral myocarditis - WP4298 (Homo sapiens)
- Affected pathways in Duchenne muscular dystrophy - WP5356 (Homo sapiens)
- Alstrom syndrome - WP5202 (Homo sapiens)
- Alternative pathway of fetal androgen synthesis - WP4524 (Homo sapiens)
- Alzheimer's disease - WP5124 (Homo sapiens)
- Alzheimer's disease and miRNA effects - WP2059 (Homo sapiens)
- Amino acid transport defects (IEMs) - WP5029 (Homo sapiens)
- Amyotrophic lateral sclerosis (ALS) - WP2447 (Homo sapiens)
- Bardet-Biedl syndrome - WP5234 (Homo sapiens)
- Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine - WP4156 (Homo sapiens)
- Biotin metabolism, including IMDs - WP5031 (Homo sapiens)
- Calcium mediated T-cell apoptosis involved in inclusion body myositis - WP5142 (Homo sapiens)
- Cerebral organic acidurias, including diseases - WP4519 (Homo sapiens)
- Cholesterol biosynthesis with skeletal dysplasias - WP4804 (Homo sapiens)
- Cholesterol synthesis disorders - WP5193 (Homo sapiens)
- Ciliopathies - WP4803 (Homo sapiens)
- Classical pathway of steroidogenesis with glucocorticoid and mineralocorticoid metabolism - WP4523 (Homo sapiens)
- Congenital generalized lipodystrophy - WP5101 (Homo sapiens)
- Copper metabolism - WP5189 (Homo sapiens)
- Creatine pathway - WP5190 (Homo sapiens)
- Cysteine and methionine catabolism - WP4504 (Homo sapiens)
- Degradation pathway of sphingolipids, including diseases - WP4153 (Homo sapiens)
- Development of ureteric derived collecting system - WP5053 (Homo sapiens)
- Disorders in ketolysis - WP5195 (Homo sapiens)
- Disorders in ketone body synthesis - WP5175 (Homo sapiens)
- Disorders of bile acid synthesis and biliary transport - WP5176 (Homo sapiens)
- Disorders of folate metabolism and transport - WP4259 (Homo sapiens)
- Disorders of fructose metabolism - WP5178 (Homo sapiens)
- Disorders of galactose metabolism - WP5173 (Homo sapiens)
- Dravet syndrome - WP5200 (Homo sapiens)
- Dravet syndrome: Scn1a-A1783V point mutation model - WP5298 (Mus musculus)
- ERK pathway in Huntington's disease - WP3853 (Homo sapiens)
- Effect of omega-3 PUFA on Huntington's disease pathways - WP5470 (Homo sapiens)
- Effect of progerin on genes involved in progeria - WP4320 (Homo sapiens)
- Envelope proteins and their potential roles in EDMD physiopathology - WP4535 (Homo sapiens)
- Ethylmalonic encephalopathy - WP5030 (Homo sapiens)
- Familial hyperlipidemia type 1 - WP5108 (Homo sapiens)
- Familial hyperlipidemia type 2 - WP5109 (Homo sapiens)
- Familial hyperlipidemia type 3 - WP5110 (Homo sapiens)
- Familial hyperlipidemia type 4 - WP5111 (Homo sapiens)
- Familial hyperlipidemia type 5 - WP5112 (Homo sapiens)
- Familial partial lipodystrophy - WP5102 (Homo sapiens)
- Fragile X syndrome - WP4549 (Homo sapiens)
- GABA metabolism (aka GHB) - WP4157 (Homo sapiens)
- GDNF/RET signaling axis - WP4830 (Homo sapiens)
- Gamma-glutamyl cycle for the biosynthesis and degradation of glutathione, including diseases - WP4518 (Homo sapiens)
- Genes controlling nephrogenesis - WP4823 (Homo sapiens)
- Genetic causes of porto-sinusoidal vascular disease - WP5269 (Homo sapiens)
- Glycine metabolism, including IMDs - WP5028 (Homo sapiens)
- Glycosylation and related congenital defects - WP4521 (Homo sapiens)
- Glyoxylate metabolism - WP5166 (Homo sapiens)
- Hemesynthesis defects and porphyrias - WP5169 (Homo sapiens)
- Hippo signaling regulation - WP4540 (Homo sapiens)
- Hippo-Merlin signaling dysregulation - WP4541 (Homo sapiens)
- Inclusion body myositis - WP5120 (Homo sapiens)
- Influence of laminopathies on Wnt signaling - WP4844 (Homo sapiens)
- Joubert syndrome - WP4656 (Homo sapiens)
- KCNQ2-related epilepsies - WP5360 (Homo sapiens)
- Kallmann syndrome - WP5074 (Homo sapiens)
- Kisspeptin/kisspeptin receptor system in the ovary - WP4871 (Homo sapiens)
- Kleefstra syndrome - WP5351 (Homo sapiens)
- Krebs cycle disorders - WP4236 (Homo sapiens)
- Lamin A processing pathway - WP4299 (Homo sapiens)
- Leucine, isoleucine and valine metabolism - WP4686 (Homo sapiens)
- Leukotriene metabolic pathway - WP5171 (Homo sapiens)
- MECP2 and associated Rett syndrome - WP3584 (Homo sapiens)
- MTHFR deficiency - WP4288 (Homo sapiens)
- Male infertility - WP4673 (Homo sapiens)
- Mammalian disorder of sexual development - WP4842 (Homo sapiens)
- Meta pathway lipodystrophy, dyslipidemia and hyperlipidemia - WP5105 (Homo sapiens)
- Metabolic epileptic disorders - WP5355 (Homo sapiens)
- Metabolic pathway of LDL, HDL and TG, including diseases - WP4522 (Homo sapiens)
- Methionine metabolism leading to sulfur amino acids and related disorders - WP4292 (Homo sapiens)
- Molybdenum cofactor (Moco) biosynthesis - WP4507 (Homo sapiens)
- NF1 copy number variation syndrome - WP5366 (Homo sapiens)
- NPHP1 deletion syndrome - WP5399 (Homo sapiens)
- Nephrogenesis - WP5052 (Homo sapiens)
- Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway - WP4577 (Homo sapiens)
- Neurotransmitter disorders - WP4220 (Homo sapiens)
- Nitric oxide metabolism in cystic fibrosis - WP4947 (Homo sapiens)
- Nucleotide excision repair in xeroderma pigmentosum - WP5114 (Homo sapiens)
- Overlap between signal transduction pathways contributing to LMNA laminopathies - WP4879 (Homo sapiens)
- Oxysterols derived from cholesterol - WP4545 (Homo sapiens)
- PAFAH1B1 copy number variation - WP5409 (Homo sapiens)
- Parkinson's disease pathway - WP2371 (Homo sapiens)
- Peroxiredoxin 2 induced ovarian failure - WP4835 (Mus musculus)
- Phosphoinositides metabolism - WP4971 (Homo sapiens)
- Pleural mesothelioma - WP5087 (Homo sapiens)
- Prader-Willi and Angelman syndrome - WP3998 (Homo sapiens)
- Prion disease pathway - WP3995 (Homo sapiens)
- Progeria-associated lipodystrophy - WP5103 (Homo sapiens)
- Proline and hydroxyproline pathways - WP5026 (Homo sapiens)
- Purine metabolism - WP4792 (Homo sapiens)
- Purine metabolism and related disorders - WP4224 (Homo sapiens)
- Pyrimidine metabolism and related diseases - WP4225 (Homo sapiens)
- Rett syndrome - WP4312 (Homo sapiens)
- Riboflavin and CoQ disorders - WP5037 (Homo sapiens)
- Serine metabolism - WP4688 (Homo sapiens)
- Smith-Magenis and Potocki-Lupski syndrome copy number variation - WP5381 (Homo sapiens)
- Somatic sex determination - WP4814 (Homo sapiens)
- Spina bifida - WP5150 (Homo sapiens)
- TAR syndrome - WP5362 (Homo sapiens)
- Thiamine metabolic pathways - WP4297 (Homo sapiens)
- Thyroid hormones production and peripheral downstream signaling effects - WP4746 (Homo sapiens)
- Tyrosine metabolism and related disorders - WP4506 (Homo sapiens)
- Urea cycle and associated pathways - WP4595 (Homo sapiens)
- Vitamin B12 disorders - WP4271 (Homo sapiens)
- Vitamin B6-dependent and responsive disorders - WP4228 (Homo sapiens)
How to Contribute
If you know of a pathway that should be added, please contact the administrator (friederike.ehrhart[AT]gmail.com).
Support
This project has received funding from the European Union’s Horizon 2020 research and innovation programme (to the European Joint Programme on Rare Diseases and to ELIXIR) and the Netherlands Rett Expertise Centre.
Community Members
Authors of Community Pathways
Friederike Ehrhart , Julivana , Egon Willighagen , Alex Pico , Eric Weitz , Pierre Klemmer , Esther Umwamikazi , Aishwarya Iyer , Kristina Hanspers , Ninagerrekens , Javier Millán Acosta , JulietaCosta , Kieran Reidy , ElenaDR , Jolijn Hekma Wierda , Kay Veurink , Clarissa Falempin , Marvin Martens , Denise Slenter , Victor Avramov , Lauren J. Dupuis , Magda M. Latorre , Daria Shumkova , Ewoud , Rens Eikelboom , Ulas Babayigit , Olivier Traets , Finterly Hu , Pauladewenter , Lars Willighagen , Tooba Abbassi-Daloii , Manon Van Der Pas , Edme Snijders , Eline Sanders , Irene Hemel , Nathan Salomonis , Thomas Kelder , Jonathan Mélius , Lovnish Thakur , Susan Coort , Daniela Digles , Anders Riutta , Tyler Peryea , Martina Summer-Kutmon , Susan M. Bachmann , Josien Landman , TheodorosZarotiadis , Britt Pieters , Eveline Schoenmaker , Ritchie Lee , Eveline Peterse , Ingebude , Leo Kalapurackal , Andra Waagmeester , Tim Zotti , Daniel Domingo-Fdez , Ado , Sam Drabbe , Amaury Pelzer , Maria van de Meent , Jesse Vercoulen , Enzo Chiaradia , Alexandra Bosch , Miriam Babukhian , Lea Doerner , Pepin Marshall , AAR&Co , Andika Tan , Nirupama Benis , KimberleyBijl , Lora Simons , Laurent Winckers , Megi Kass , Elisson nl , Vanessa Sousa , Yasmin Omar , Lobke Meels , Iulia Ioncu , Emilia Agasi , Julia Johnsson , Zoe Barois , Anna De Brouwer , B.T.J. van Dijl , Marijn Kerkhofs , Margit Janssen , Richard Delava , Amy Kutmon , Peter Swanenberg , Ryan Miller , Anouk Wolters , Bhavana Kapalli , Hermann Ritter , G. Keulen , Ann Friesacher , Natalie Hinkova , Conroy lipids , Robert Andrews , William J Griffiths , Bas Lahaije , Elisa Santarsiero , Franziska Kreidl , Kelly Janssen , Lot Van De Wouw , Roel Hacking , Max Van Son , Je G , XNauts , Youssef Walid , Rik Lahaije , Agustin Gonzalez-Vicente , Mzolisi Mtshaulana , and Lisa Martina Held .