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PMM2-congenital disorder of glycosylation - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Muscle weakness, Type I transferrin isoform profile, Almond-shaped palpebral fissure, and Liver scarring (fibrosis) (hepatic fibrosis) and others; and very common findings: Low muscle tone (hypotonia), Ataxia, Global developmental delay, and Cerebellar hypoplasia. 71 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Seizure, Ataxia, Hyporeflexia
Digestive system	7	Hepatic steatosis, Liver scarring (fibrosis) (hepatic fibrosis), Enlarged liver (hepatomegaly)
Muscles	5	Flexion contracture, Low muscle tone (hypotonia), Muscle weakness
Kidneys and urinary system	4	Proximal tubulopathy, Protein in the urine (proteinuria), Nephrotic syndrome
Heart and blood vessels	4	Pericardial effusion, Pericarditis, Heart muscle disease (cardiomyopathy)
Head and neck	2	Microcephaly, Thin upper lip vermilion
Hormones	2	Hypergonadotropic hypogonadism, Hypothyroidism
Bones and joints	2	Mild bone density loss (osteopenia), Excessive outward curvature of the upper spine (kyphosis)
Blood and immune system	1	Elevated platelet count (thrombocytosis)
Eyes	1	Nystagmus
Skin	1	Abnormal subcutaneous fat tissue distribution
Pregnancy and birth	1	Nonimmune hydrops fetalis
Growth and development	1	Failure to thrive
Lab test results	1	Elevated circulating hepatic transaminase concentration

GeneReviews

Clinical Guidance

Some features of PMM2-CDG are usually present in infancy, but may be too subtle to recognize and thus not come to medical attention. The clinical course varies by severity and includes the following typical presentations and stages: hydrops fetalis at the severe end, infantile multisystem presentation, late-infantile and childhood ataxia–intellectual disability stage, and an adult stable disability stage . Table 2. PMM2-CDG: Frequency of Select Features

Feature	InfantileMultisystemPresentation	Late-Infantile ChildhoodAtaxia-ID Stage	Adult StableDisabilityStage	Comment
Hypotonia	Common	Common

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for PMM2-congenital disorder of glycosylation. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for PMM2-congenital disorder of glycosylation, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for PMM2-congenital disorder of glycosylation. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor	Designated	Exclusivity End	Designation Status
2-(4-oxo-3-((5-(trifluoromethyl)benzo[d]thiazol-2-yl)methyl)-3,4-dihydrothieno[3,4-d]pyridazin-1-yl)acetic acid	2-(4-oxo-3-((5-(trifluoromethyl)benzo[d]thiazol-2-yl)methyl)-3,4-dihydrothieno[3,4-d]pyridazin-1-yl)acetic acid	Applied Therapeutics Inc.	2020	—	Designated

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with PMM2-CDG, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended . Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with PMM2-CDG

System/Concern	Evaluation	Comment
Development	Developmental assessment	To incl:; Motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education PT/OT assessment
Eyes	Ophthalmologic eval	To assess:; Vision; Ocular mobility; Structural anomalies of the lens retina; Intraocular pressure

GeneReviews

Clinical Guidance

Acetaminophen and other agents metabolized by the liver should be used with caution.

Source: GeneReviews — "PMM2-CDG"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "PMM2-CDG"

Clinical Trials

3 trials found

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 6. Recommended Surveillance for Individuals with PMM2-CDG

System/Concern	Evaluation	Frequency
Musculoskeletal	Monitor for osteopenia/osteoporosis	Every 1-2 yrs /or as needed DXA scan
Immunology	Complete blood count differential	Every 1-2 yrs
Hematologic	Assessment of bleeding clotting parameters by hematologist incl prothrombin time, protein C, protein S, antithrombin III, factor IX, factor XI	Annually /or as needed; Consultation at time of surgery; If prothrombin time is prolonged, factors II, V, VII, VIII X should be measured. ALT = alanine transaminase AST = aspartate transami...

Source: GeneReviews — "PMM2-CDG"

Phenotype severity distribution: 5 always present features, 4 very common features, 17 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

3 clinical trials registered. Interventions under study include drug therapy. Pipeline includes 2 PHASE2. Research is primarily industry-sponsored.

48 publications have been identified in PubMed for PMM2-congenital disorder of glycosylation. Research spans Basic Science / Preclinical (33%), Epidemiology / Natural History (17%), and Diagnostic / Biomarker (15%).

Research Type	Count	% of Total
Laboratory research	16	33%
Disease patterns and progression	8	17%
Testing and diagnosis research	7	15%
New treatment approaches	6	13%
Patient case studies	5	10%
Research summaries	4	8%
Other research	1	2%
Clinical study results	1	2%

Recent Publications

Khan Z (2026). [PMID: 41769605](https://pubmed.ncbi.nlm.nih.gov/41769605/). *Cureus*. [Case Report / Case Series]
Garapati K (2026). [PMID: 41713138](https://pubmed.ncbi.nlm.nih.gov/41713138/). *Mol Genet Metab*. [Diagnostic / Biomarker]
Schultz MJ (2026). [PMID: 41905312](https://pubmed.ncbi.nlm.nih.gov/41905312/). *Mol Genet Metab*. [Diagnostic / Biomarker]
Sarafoglou K (2026). [PMID: 42030611](https://pubmed.ncbi.nlm.nih.gov/42030611/). *Mol Genet Metab*. [Basic Science / Preclinical]
Blasingame BA (2026). [PMID: 41540812](https://pubmed.ncbi.nlm.nih.gov/41540812/). *Pediatr Transplant*. [Case Report / Case Series]
Kraoua L (2026). [PMID: 41722273](https://pubmed.ncbi.nlm.nih.gov/41722273/). *Mol Genet Metab*. [Basic Science / Preclinical]
Himmelreich N (2026). [PMID: 41052538](https://pubmed.ncbi.nlm.nih.gov/41052538/). *Neuropediatrics*. [Diagnostic / Biomarker]
Sodano F (2026). [PMID: 41968365](https://pubmed.ncbi.nlm.nih.gov/41968365/). *IUBMB Life*. [Gene Therapy / Novel Therapeutics]
Ávila Moreno LM (2026). [PMID: 40858198](https://pubmed.ncbi.nlm.nih.gov/40858198/). *Clin Chim Acta*. [Diagnostic / Biomarker]
Okamoto N (2025). [PMID: 40191061](https://pubmed.ncbi.nlm.nih.gov/40191061/). *JIMD Rep*. [Basic Science / Preclinical]

Kisho

PMM2-congenital disorder of glycosylation

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Orphan Drug Designations

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

PMM2-congenital disorder of glycosylation

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Orphan Drug Designations

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team