Portal:IEM

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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 (ed.5)
14	Disorders of Nucleotide Metabolism
15	Creatine disorders	WP5190	32	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	Approved
19	Disorders of monoamine metabolism	WP4220	31	Approved (ed.5)	6, non missing
20	Disorders of phenylalanine and tetrahydrobiopterin metabolism	WP4156	1	Approved (ed.5)	8 (+2), non missing
21	Disorders of tyrosine metabolism	WP4506	2	Approved (ed.5)	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	Approved
24	Disorders of Beta and Gamma Amino Acids	Fig.24.2: WP4157	5 (Fig.5.3)	Approved (ed.5)	2, non missing
26	Disorders of glycine metabolism	Fig.5.1:WP5028, Fig.5.4: WP5026	5	In Progress
26	Disorders of glycine metabolism	Fig.5.2: WP4688	5	Approved
27	Disorders of Lipoic Acid and Iron-Sulphur Protein Metabolism
28	Disorders of cobalamin metabolism	WP4271	13	Approved
29	Disorders of folate metabolism	WP4259 and WP4288	10	Approved	9 (+3), non missing
30	Disorders of biotin metabolism	WP5031	14	Approved
31	Disorders of thiamine metabolism	WP4297	15	Approved
32	Disorders of riboflavin metabolism	WP5037	16	Approved
33	Disorders of Niacin, NAD, and Pantothenate Metabolism
34	Vitamin B6 -Dependent and Responsive Disorders	WP4228	11	Approved (ed.5)	5, non missing
35	Disorders of molybdenum metabolism	WP4507 and WP4504	12	Approved
36	Disorders of copper , zinc and selenium metabolism	WP5189	39	Approved
37	Iron metabolism disorder	WP5172	40	Approved
38	Disorders of Manganese Metabolism
39	Disorders of carbohydrate and glucose transport	Fig.18.3:WP5173, Fig.18.4: WP5178	18	Approved
40	Disorders of Pentose Phosphate Pathway and Polyol Metabolism
41	Disorders Congenital Hyperinsulinism
42	Disorders of pyruvate and Krebs cycle metabolism	WP4236	20	Approved
43	Disorders of Mitochondrial Carriers
44	Isolated Mitochondrial Complex Deficiencies
45	Disorders of Replication, Transcription and Translation of Mitochondrial DNA
46	Disorders of Mitochondrial Homeostatis, Dynamics, Protein Import, and Quality Control
47	Primary CoQ10 deficiencies	WP5037	16	Approved
48	Disorders of carnitine, fatty acid and fatty aldehyde metabolism	WP5123	17	In Progress
49	Disorders of Glycerol Metabolism
50	Disorders of ketone body metabolism	Fig.23.1 and 23.2:WP5175, Fig.23.3: WP5195	23	Approved
51	Disorders of Complex Lipids
52	Disorders of eicosanoid metabolism (including leukotrienes)	WP5171	38	Approved
53	Disorders of lipoprotein metabolism	WP4522	43	Approved
54	Cholesterol synthesis disorders	WP5193	36	Approved
55	Disorders of steroid metabolism	WP4523 and WP4524	37	Approved
56	Disorders of Bile acid synthesis (and biliary transport)	WP5176	34	Approved
57	Disorders of Heme metabolism	WP5169	33	Approved
58	Inherited Disorders of Bilirubin Metabolite
59	Disorders of Autophagy
60	Lysosomal storage disorders	WP4153	25	Approved (ed.5)	8, 8 unconnected
61	The Neuronal Ceroid Lipofuscinoses				no pathway diagram
62	Mucolipidoses, Multiple Sulfatase Deficiency, and Cathepsin K and C Deficiency
63	Oligosaccharidoses and Sialic Acid Disorders
64	The Mucopolysaccharidoses
65	Disorders of oxalate metabolism	WP5166	28	Approved
66	Congenital disorders of N-linked and O-linked glycosylation	WP4521	30	Approved
67	Disorders of Oxalate Metabolism
68	Congenital Disorders of Glycosylation
69	Cerebral organic acidurias	WP4519 and WP5030	8 & 9	Approved
70	3-Methylglutaconic Acidurias
-	Disorders of phosphoinositide metabolism	WP4971	NA	Approved
-	Oxysterols derived from cholesterol	WP4545	NA	Approved
-	Mitochondrial oxidative phosphorylation		22	In Progress

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.

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Data Analysis

With the pathways from the Blau book (as well as with other pathways on WikiPathways), various data analysis approaches can be performed. You can find the relevant book chapter as Open Access regarding these data approaches here: Slenter, D.N., Kutmon, M., Willighagen, E.L. (2022). WikiPathways: Integrating Pathway Knowledge with Clinical Data. In: Blau, N., Dionisi Vici, C., Ferreira, C.R., Vianey-Saban, C., van Karnebeek, C.D.M. (eds) Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer, Cham. DOI:10.1007/978-3-030-67727-5_73.

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 IEMPathwayAnalysis.

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.

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Featured Pathway

Urea cycle and associated pathways (Homo sapiens) Image does not exist Urea cycle and associated pathways

View all Featured Pathways for this Portal

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News

• Spring 2022: The new edition is published, including the chapter about this portal Open Access.
• 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)