Portal:IEM
From WikiPathways
This portal is set up to give an overview of all Inborn Errors of Metabolism (IEM) pathways. This portal is also featured in the latest NAR Database Issue on WikiPathways.
IMPORTANT: the current list of pathways is based on the currently published (2014) 4th edition of the book (ISBN 3642403360 (978-3642403361)). There is a new edition(5) upcoming and the pathways in the new edition are being digitized in a collaboration with the chapter authors, but these have no been made public yet, and therefore do not show up here.
Covered Pathways
Chapter ed. 5 | Title | Links WP | Chapter ed. 4 | Status | Diseases: x from ch. ed. 4 (+y) from other ch. |
---|---|---|---|---|---|
13 | Disorders of pyrimidine and purine metabolism | WP4225 and WP4224 | 41 | Approved | |
16 | Disorders of glutathione metabolism | WP4518 | 42 | Approved | |
17 | Disorders of ammonia detoxification | WP4595 | 4 | Approved | |
18 | Disorders of amino acid transport | WP5029 | 6 | In Progress | |
19 | Disorders of monoamine metabolism | WP4220 | 31 | Approved | |
20 | Disorders of phenylalanine and tetrahydrobiopterin metabolism | WP4156 | 1 | Approved | 7 (+3), non missing |
21 | Disorders of tyrosine metabolism | WP4506 | 2 | Approved | 5, non missing |
22 | Disorders of sulfur amino acid and sulfide metabolism | WP4292 | 3 | Approved | 7, non missing |
23 | Disorders of branched-chain amino acid metabolism | WP4686 | 7 | In Progress | |
26 | Disorders of glycine metabolism | Fig.5.1:WP5028, Fig.5.2: WP4688, Fig.5.3:WP4157, Fig.5.4: WP5026 | 5 | In Progress | |
28 | Disorders of cobalamin metabolism | WP4271 | 13 | Approved | |
29 | Disorders of folate metabolism | WP4259 and WP4288 | 10 | Approved | |
30 | Disorders of biotin metabolism | WP5031 | 14 | Approved | |
31 | Disorders of thiamine metabolism | WP4297 | 15 | Approved | |
32 | Disorders of riboflavin metabolism | WP5037 | 16 | Approved | |
34 | Vitamin B6 -Dependent and Responsive Disorders | WP4228 | 11 | Approved | |
35 | Disorders of molybdenum metabolism | WP4507 and WP4504 | 12 | Approved | |
42 | Disorders of pyruvate and Krebs cycle metabolism | WP4236 | 20 | Approved | |
47 | Primary CoQ10 deficiencies | WP5037 | 16 | Approved | |
53 | Disorders of lipoprotein metabolism | WP4522 | 43 | Approved | |
55 | Disorders of steroid metabolism | WP4523 and WP4524 | 37 | Approved | |
60 | Lysosomal storage disorders | WP4153 | 25 | Approved | |
66 | Congenital disorders of N-linked and O-linked glycosylation | WP4521 | 30 | Approved | |
69 | Cerebral organic acidurias | WP4519 and WP5030 | 8 & 9 | Approved | |
? | Disorders of phosphoinositide metabolism | WP4971 | ? | Approved |
Information on Pathway Curation:
This Table provides an overview of which chapters have been covered by WikiPathways. Approved pathways are coloured blue; pathways which still need work (however are a part of the database) are coloured orange.
Tip:
Click on the arrows behind the Table headers to sort this table based on Chapter number (edition 4 and 5 available), title, WikiPathways reference and Curation Status.
Pathway Visualisations
View all digitized Pathways from the Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by Blau et al. (see it on Scholia.)
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.
Data Analysis
With the pathways from the Blau book (as well as with other pathways on WikiPathways), various data analysis approaches can be performed.
For the current overview of which pathways are covered and their status, see here.
To download all pathways tagged for Inborn Errors of Metabolsim as GPML, click here.
For example scripts (in R), please visit PathwayAnalysisBlauBook.
The Figure on the left shows an example of network analysis with Cytoscape, where known drug-target interactions from DrugBank using the CyTargetLinker app have been added to the purine metabolism pathway.
Featured Pathway
Biotin Metabolism (including IEMs) (Homo sapiens) |
View all Featured Pathways for this Portal |
News
- Winter 2020: All images of the first 15 chapters are available on WikiPathways.
- Summer 2020: An overview of all covered chapter has been created on the main page
- Spring 2020: The Portal has been created
- Autumn 2019: Several chapters of the new book have already been digitized (but are embargoed)