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neurodegeneration, childhood-onset, with cerebellar atrophy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodegeneration, childhood-onset, with cerebellar atrophy

MONDO:0032650

Also known as:CONDCA

Overview

GeneticsAutosomal recessive · AGTPBP1 (chr 9)

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: Shrinkage of the cerebellum (cerebellar atrophy), Low muscle tone (hypotonia), Ataxia, and Motor delay and others; and very common findings: Motor axonal neuropathy. 29 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Inability to walk, Dystonia, Global brain atrophy

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.

AGTPBP1 encodes ATP/GTP binding carboxypeptidase 1 (1,226 aa). Metallocarboxypeptidase that mediates protein deglutamylation of tubulin and non-tubulin target proteins. Highest expression in Brain Spinal cord cervical c-1 (35.0 TPM) and Whole Blood (33.6 TPM).

Neurodegeneration, childhood-onset, with cerebellar atrophy is caused by mutations in the AGTPBP1 gene on chromosome 9.

AGTPBP1 is classified as a druggable target (Druggable Genome and Protease categories) with score 0.0.

Diagnosis

Genetic testing for AGTPBP1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 1 very common feature, 13 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 neurodegeneration, childhood-onset, with cerebellar atrophy.

12 publications have been identified in PubMed for neurodegeneration, childhood-onset, with cerebellar atrophy. Research spans Basic Science / Preclinical (58%), Case Report / Case Series (25%), and Epidemiology / Natural History (8%).

Research Type	Count	% of Total
Laboratory research	7	58%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 4:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618276

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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neurodegeneration, childhood-onset, with cerebellar atrophy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

neurodegeneration, childhood-onset, with cerebellar atrophy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications