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Features include always present findings: Delayed speech and language development; and very common findings: Attention deficit hyperactivity disorder. 34 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 7 | Generalized non-motor (absence) seizure, Aggressive behavior, Anxiety |
CAPRIN1 encodes cell cycle associated protein 1 (709 aa). mRNA-binding protein that acts as a regulator of mRNAs transport, translation and/or stability, and which is involved in neurogenesis, synaptic plasticity in neurons and cell proliferation and migration in multiple cell types. Highest expression in Cells Cultured fibroblasts (110.9 TPM) and Cells EBV-transformed lymphocytes (109.5 TPM).
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder has been associated with mutations in the CAPRIN1 gene on chromosome 11.
CAPRIN1 is classified as a druggable target with score 0.0.
Genetic testing for CAPRIN1 is available. Testing is considered supportive for diagnosis.
Biomarker and diagnostic research for neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 1 very common feature, 2 common features.
No clinical trials have been registered for neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder.
117 publications have been identified in PubMed for neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder. Kisho has analyzed 80 by research type. Research spans Review / Meta-Analysis (34%), Epidemiology / Natural History (28%), and Basic Science / Preclinical (21%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 27 |
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:09 PM UTC
Online Mendelian Inheritance in Man
Head and neck
3 |
Cleft earlobe, Thin upper lip vermilion, Long face |
Eyes | 2 | Strabismus, Ptosis |
Arms and legs | 2 | Prominent fingertip pads, Clinodactyly of the 5th finger |
Ears | 1 | Hearing loss (hearing impairment) |
Lungs and breathing | 1 | Obstructive sleep apnea |
34%
Disease patterns and progression | 22 | 28% |
Laboratory research | 17 | 21% |
Patient case studies | 8 | 10% |
Other research | 4 | 5% |
Testing and diagnosis research | 2 | 3% |
Chan JKN (2026). [PMID: 42134364](https://pubmed.ncbi.nlm.nih.gov/42134364/). *Lancet Psychiatry*. [Review / Meta-Analysis]
Hodis B (2026). [PMID: 30247851](https://pubmed.ncbi.nlm.nih.gov/30247851/). *Unknown Journal*. [Other]
Civan RA (2026). [PMID: 41859620](https://pubmed.ncbi.nlm.nih.gov/41859620/). *Cureus*. [Case Report / Case Series]
Tiosso Batistetti V (2026). [PMID: 41955613](https://pubmed.ncbi.nlm.nih.gov/41955613/). *JMIR Infodemiology*. [Epidemiology / Natural History]
Araújo LA (2026). [PMID: 41248901](https://pubmed.ncbi.nlm.nih.gov/41248901/). *J Pediatr (Rio J)*. [Review / Meta-Analysis]
Lee K (2026). [PMID: 31613434](https://pubmed.ncbi.nlm.nih.gov/31613434/). *Unknown Journal*. [Other]
Costa SD (2026). [PMID: 40566944](https://pubmed.ncbi.nlm.nih.gov/40566944/). *J Child Neurol*. [Case Report / Case Series]
GBD 2023 Mental Disorder Collaborators (2026). [PMID: 42167272](https://pubmed.ncbi.nlm.nih.gov/42167272/). *Lancet*. [Review / Meta-Analysis]
Bérard A (2026). [PMID: 41062061](https://pubmed.ncbi.nlm.nih.gov/41062061/). *J Am Acad Child Adolesc Psychiatry*. [Review / Meta-Analysis]
Kostenko RTD (2026). [PMID: 41120047](https://pubmed.ncbi.nlm.nih.gov/41120047/). *J Pediatr (Rio J)*. [Review / Meta-Analysis]