Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

developmental and epileptic encephalopathy 108 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy 108

MONDO:0859314

Overview

GeneticsAutosomal dominant · MAST3 (chr 19)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Epileptic encephalopathy and Intellectual disability; and very common findings: Small pituitary gland. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absence) seizure

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MAST3 encodes microtubule associated serine/threonine kinase 3 (1,309 aa). Highest expression in Brain Cortex (82.7 TPM) and Brain Frontal Cortex BA9 (60.0 TPM).

Developmental and epileptic encephalopathy 108 is associated with mutations in the MAST3 gene on chromosome 19.

MAST3 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 0.0.

Diagnosis

Genetic testing for MAST3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy 108 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 7 common features.

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.

No clinical trials have been registered for developmental and epileptic encephalopathy 108.

19 publications have been identified in PubMed for developmental and epileptic encephalopathy 108. Research spans Case Report / Case Series (32%), Diagnostic / Biomarker (26%), and Review / Meta-Analysis (11%).

Research Type	Count	% of Total
Patient case studies	6	32%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620115

Questions for Your Care Team

→Should I pursue genetic testing for MAST3, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

developmental and epileptic encephalopathy 108

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

developmental and epileptic encephalopathy 108

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications