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Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH)

GtoPdb Disease Summaries

This section gives an overview of the disease, and where available shows the following:

  • Synonyms: Shows known synonyms for the disease.
  • Description: Gives a basic description/definition of the disease.
  • Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
  • Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
  • Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.

More information can be found in the help pages.

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Disease ID:1264
Name:Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH)
Associated with:1 target
1 immuno-relevant target
Description
IMDDHH is a early onset multisystem disorder that is characterised by immunodeficiency, recurrent infections, developmental delay, poor growth, intellectual disability, and hypohomocysteinemia. Congenital heart defects and liver involvement are variably present.
Database Links
OMIM: 617744

Targets

GtoPdb Disease Summaries - Targets

Click on the target name to link to its detailed view page

Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.

If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page

Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.

More information can be found in the help pages.

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Key to terms and symbols
nuclear factor, erythroid 2 like 2
Comments:  IMDDHH is associated with heterozygous missense mutations in the NFE2L2 gene. The mutations detected affect the N-terminal Neh2 domain of NRF2 that facilitates binding to inhibitory KEAP1 proteins (so KEAP1 inhibition of NRF2 is reduced), and this subsequently leads to chronic activation of NRF2-responsive stress response genes.

Ligands

GtoPdb Disease Summaries - Ligands

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  • Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
  • Immuno: Immuno icon indicates the ligand is immuno-relevant

Click the arrow in the final column to expand comments

  • Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
  • Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
  • Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.

More information can be found in the help pages.

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No ligand related data available for Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH)

References

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1. Huppke P, Weissbach S, Church JA, Schnur R, Krusen M, Dreha-Kulaczewski S, Kühn-Velten WN, Wolf A, Huppke B, Millan F et al.. (2017) Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. Nat Commun, 8 (1): 818. [PMID:29018201]