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Disease · MONDO_0008907

PMM2-congenital disorder of glycosylation

6 sourcesdiseases-2026-09-18-0.1.0

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ConductScience Library. PMM2-congenital disorder of glycosylation. Diseases, record MONDO_0008907. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0008907

On this page

Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name
PMM2-congenital disorder of glycosylation
Open Targets
Open Targets ID
MONDO_0008907
Open Targets
Other names
CDG 1A, CDG syndrome type Ia, CDG-IA, CDG1A, PMM2-CDG, carbohydrate deficient glycoprotein syndrome type Ia, congenital disorder of glycosylation type 1a, congenital disorder of glycosylation type Ia, phosphomannomutase 2 deficiency
Open Targets
Disease Ontology
DOID:0080552
Disease Ontology
MeSH
C535739
MeSH
NCI Thesaurus
C126868
NCI Thesaurus
Orphanet
ORPHA:79318
Orphanet
Highest stage of its drugs
Phase 2/3, for its one drug, from ClinicalTrials.gov
Open Targets

Drugs1

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

DrugChEMBL IDTypeOpen Targets' stageStage reported byReportsOf them trialsTrials shown here
ACETAZOLAMIDECHEMBL20Small moleculePhase 2/3ClinicalTrials.gov111

Source Drugs and targets

Targets4

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

TargetProteinIts drugs that act on itMechanismsHighest stage of those drugsGene in GenesSource
CA1Carbonic anhydrase 11Carbonic anhydrase I inhibitorPhase 2/3https://conductscience.org/library/genes/759Drugs and targets
CA12Carbonic anhydrase 121Carbonic anhydrase XII inhibitorPhase 2/3https://conductscience.org/library/genes/771Drugs and targets
CA2Carbonic anhydrase 21Carbonic anhydrase II inhibitorPhase 2/3https://conductscience.org/library/genes/760Drugs and targets
CA4Carbonic anhydrase 41Carbonic anhydrase IV inhibitorPhase 2/3https://conductscience.org/library/genes/762Drugs and targets

Trials1

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.

TrialTitlePhaseParticipantsResults first postedConditionsDrugsLinked by
NCT04679389Acetazolamide Efficacy in Ataxia in PMM2-CDGPhase 2/3252025-03-20Pmm2-CDG, CDG1AACETAZOLAMIDEIts record names the disease

Source ClinicalTrials.gov

Comparisons in its trials5

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

ComparisonGroup 1, with the outcomeGroup 2, with the outcomeParticipantsTrialSource
Acetazolamide vs Placebo: Abnormal Blood pH Value0 of 131 of 1225NCT04679389Trial comparisons
Acetazolamide vs Placebo: Electrolyte Balance Testing0 of 131 of 1225NCT04679389Trial comparisons
Acetazolamide vs Placebo: Urine Calcium Excretion Testing0 of 130 of 1225NCT04679389Trial comparisons
Acetazolamide vs Placebo: deaths from any cause0 of 130 of 1225NCT04679389Trial comparisons
Acetazolamide vs Placebo: serious adverse events1 of 133 of 1225NCT04679389Trial comparisons

Papers from its trials0

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

None in this release.

Data dates

The date of each source this release read.

Open Targets
2026-09-18
Open Targets
Drug links and their checks, from Drugs and targets
2026-09-18
Drugs and targets
ClinicalTrials.gov, from Trials
2026-11-12
Trials
Comparisons, from Trial comparisons
2026-03-23
Trial comparisons
PubMed, for the checks
2026-11-06
PubMed
MeSH, for the checks
2026-11-10
MeSH

Sources 6

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • NLM's MeSHNLM's terms
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • NLM's MeSHNLM's
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0008907

GET https://conductscience.org/api/diseases/v1/MONDO_0008907/drugs

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