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
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 9 | Poor speech, Seizure, Global brain atrophy |
Muscles | 2 | Low muscle tone (hypotonia), Global brain atrophy |
Digestive system | 2 | Diarrhea, Difficulty swallowing (dysphagia) |
Growth and development | 1 | Failure to thrive |
Kidneys and urinary system | 1 | Renal tubular acidosis |
Blood and immune system | 1 | Low red blood cell count (anemia) |
CAD encodes carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (2,225 aa). Multifunctional protein that encodes the first 3 enzymatic activities of the de novo pyrimidine pathway: carbamoylphosphate synthetase (CPSase; EC 6.3.5.5), aspartate transcarbamylase (ATCase; EC 2.1. Highest expression in Cells EBV-transformed lymphocytes (44.4 TPM) and Cells Cultured fibroblasts (36.8 TPM).
Developmental and epileptic encephalopathy, 50 is caused by mutations in the CAD gene on chromosome 2.
The CAD protein participates in p-S759, S789 CALD1 pathway.
CAD is classified as a druggable target (Clinically Actionable, Druggable Genome, Enzyme, and Kinase categories) with score 0.0.
Genetic testing for CAD is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 15 always present features, 2 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for developmental and epileptic encephalopathy, 50.
5 publications have been identified in PubMed for developmental and epileptic encephalopathy, 50. Research spans Case Report / Case Series (80%) and Review / Meta-Analysis (20%).
Sekhon G (2026). [PMID: 42107916](https://pubmed.ncbi.nlm.nih.gov/42107916/). *Seizure*. [Case Report / Case Series]
Garris J (2025). [PMID: 40534755](https://pubmed.ncbi.nlm.nih.gov/40534755/). *Epilepsy Curr*. [Review / Meta-Analysis]
Kaczmarska A (2025). [PMID: 40251393](https://pubmed.ncbi.nlm.nih.gov/40251393/). *Sci Rep*. [Case Report / Case Series]
Glangher A (2025). [PMID: 40277802](https://pubmed.ncbi.nlm.nih.gov/40277802/). *Diseases*. [Case Report / Case Series]
Silva S (2024). [PMID: 38641466](https://pubmed.ncbi.nlm.nih.gov/38641466/). *Brain Dev*. [Case Report / Case Series]