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intellectual disability, autosomal dominant 56 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal dominant 56

MONDO:0030922

Also known as:CLTC-related IDCLTC-related disorderCLTC-related intellectual disability

Overview

GeneticsAutosomal dominant · CLTC (chr 17)

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: Intellectual disability; and common findings: Low muscle tone (hypotonia) and Global developmental delay. 40 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	15	Inability to walk, Slowness of movement (bradykinesia), Dystonia

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.

CLTC encodes clathrin heavy chain (1,675 aa). Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Highest expression in Cells Cultured fibroblasts (185.7 TPM) and Brain Cerebellar Hemisphere (125.6 TPM).

Intellectual disability, autosomal dominant 56 is associated with mutations in the CLTC gene on chromosome 17.

The CLTC protein participates in CLTC(2-1634)insDGVSSVTQAGVQWRDLGSLQPSRARLPGHVAADHPPA-ALK(1058-1620) fusion, CLTC(2-1634)insDGVSSVTQAGVQWRDLGSLQPSRARLPGHVAADHPPA-p-7Y-ALK(1058-1620) fusion, and 3 CLTC:3 CLC triskelion pathways.

CLTC is classified as a druggable target (Clinically Actionable category) with score 7.5.

Diagnosis

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

Prognosis

Phenotype severity distribution: 1 always present feature, 2 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 intellectual disability, autosomal dominant 56.

11 publications have been identified in PubMed for intellectual disability, autosomal dominant 56. Research spans Review / Meta-Analysis (30%), Case Report / Case Series (30%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Research summaries	3	30%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617854

GARD

Genetic and Rare Diseases Info Center

GARD:13524

Questions for Your Care Team

→Should I pursue genetic testing for CLTC, 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?

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Kisho

intellectual disability, autosomal dominant 56

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

intellectual disability, autosomal dominant 56

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications