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Pitt-Hopkins-like syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Pitt-Hopkins-like syndrome 2

MONDO:0013690

Also known as:NRXN1 Pitt-Hopkins-like syndromePitt-Hopkins-like syndrome caused by mutation in NRXN1Pitt-Hopkins-like syndrome type 2

Overview

Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.

GeneticsAutosomal recessive · NRXN1 (chr 2)

ResearchLimited published research (3 articles)

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 common findings: Epileptic encephalopathy; and sometimes findings: Broad-based gait. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Broad-based gait, Loss of previously acquired skills (developmental regression), Severe intellectual disability

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.

NRXN1 encodes neurexin 1 (472 aa). Neuronal cell surface protein involved in cell recognition and cell adhesion by forming intracellular junctions through binding to neuroligins. Plays a role in formation of synaptic junctions. Highest expression in Brain Cerebellar Hemisphere (24.7 TPM) and Brain Frontal Cortex BA9 (18.2 TPM).

Pitt-Hopkins-like syndrome 2 is associated with mutations in the NRXN1 gene on chromosome 2.

The NRXN1 protein participates in NRXNs bind NLGNs pathway.

NRXN1 is classified as a druggable target (Cell Surface, Druggable Genome, Ion Channel, and Transporter categories) with score 2.0.

Diagnosis

Genetic testing for NRXN1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 common feature.

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 Pitt-Hopkins-like syndrome 2.

3 publications have been identified in PubMed for Pitt-Hopkins-like syndrome 2. Research spans Review / Meta-Analysis (67%) and Basic Science / Preclinical (33%).

Recent Publications

Sozańska N (2025). [PMID: 40452023](https://pubmed.ncbi.nlm.nih.gov/40452023/). *Cell Commun Signal*. [Review / Meta-Analysis]
Haskell D (2025). [PMID: 41446048](https://pubmed.ncbi.nlm.nih.gov/41446048/). *bioRxiv*. [Basic Science / Preclinical]
Pavone P (2024). [PMID: 39655047](https://pubmed.ncbi.nlm.nih.gov/39655047/). *Open Med (Wars)*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614325

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Pitt-Hopkins-like syndrome 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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