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
Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 4 | Bilateral tonic-clonic seizure, Delayed speech and language development, Seizure |
CRADD encodes CARD and death domain containing adaptor protein (199 aa). Adapter protein that associates with PIDD1 and the caspase CASP2 to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis. Highest expression in Testis (11.0 TPM) and Uterus (7.7 TPM).
Intellectual disability, autosomal recessive 34 is associated with mutations in the CRADD gene on chromosome 12.
The CRADD protein participates in PIDD1 associates with CRADD pathway.
CRADD is classified as a druggable target (Kinase category) with score 0.0.
Genetic testing for CRADD is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 1 very common feature.
No clinical trials have been registered for intellectual disability, autosomal recessive 34.
10 publications have been identified in PubMed for intellectual disability, autosomal recessive 34. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (30%), and Review / Meta-Analysis (20%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 4 | 40% |
Laboratory research | 3 | 30% |
Research summaries | 2 | 20% |
Disease patterns and progression | 1 | 10% |
Pan X (2026). [PMID: 41764152](https://pubmed.ncbi.nlm.nih.gov/41764152/). *J Mol Med (Berl)*. [Epidemiology / Natural History]
Gautier MK (2026). [PMID: 42290942](https://pubmed.ncbi.nlm.nih.gov/42290942/). *Mol Ther Adv*. [Basic Science / Preclinical]
Yamaguchi Y (2025). [PMID: 39617394](https://pubmed.ncbi.nlm.nih.gov/39617394/). *Congenit Anom (Kyoto)*. [Basic Science / Preclinical]
Nerakh G (2025). [PMID: 40657982](https://pubmed.ncbi.nlm.nih.gov/40657982/). *Clin Dysmorphol*. [Case Report / Case Series]
Kawatani K (2025). [PMID: 41076637](https://pubmed.ncbi.nlm.nih.gov/41076637/). *Hum Mol Genet*. [Basic Science / Preclinical]
Pajouhi A (2025). [PMID: 41079045](https://pubmed.ncbi.nlm.nih.gov/41079045/). *Case Rep Pediatr*. [Case Report / Case Series]
Shinawi M (2025). [PMID: 39742826](https://pubmed.ncbi.nlm.nih.gov/39742826/). *Mol Genet Metab*. [Case Report / Case Series]
Kiraz A (2025). [PMID: 40448720](https://pubmed.ncbi.nlm.nih.gov/40448720/). *Neurogenetics*. [Case Report / Case Series]
Kurtovic-Kozaric A (2024). [PMID: 39720176](https://pubmed.ncbi.nlm.nih.gov/39720176/). *Front Genet*. [Review / Meta-Analysis]
Hirayama H (2024). [PMID: 39206713](https://pubmed.ncbi.nlm.nih.gov/39206713/). *Glycobiology*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:22 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center