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pontocerebellar hypoplasia type 7 (PCH7) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pontocerebellar hypoplasia type 7

MONDO:0013993

Also known as:PCH7TOE1 non-syndromic pontocerebellar hypoplasianon-syndromic pontocerebellar hypoplasia caused by mutation in TOE1

Overview

Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

GeneticsAutosomal recessive · TOE1 (chr 1)

ResearchLimited published research (4 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 always present findings: Hypoplasia of the pons, Muscle weakness, Intellectual disability, and Skeletal muscle atrophy and others; and very common findings: Progressive microcephaly, Hypertonia, Ambiguous genitalia, and Overactive reflexes (hyperreflexia) and others. 49 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	15	Seizure, Ataxia, Hydrocephalus

Genetic Landscape

TOE1 function has not been fully characterized.

Pontocerebellar hypoplasia type 7 is associated with mutations in the TOE1 gene on chromosome 1.

Diagnosis

Genetic testing for TOE1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features, 5 very common features, 11 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 pontocerebellar hypoplasia type 7.

4 publications have been identified in PubMed for pontocerebellar hypoplasia type 7. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Pachapure SS (2026). [PMID: 41847829](https://pubmed.ncbi.nlm.nih.gov/41847829/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Yang A (2025). [PMID: 39524536](https://pubmed.ncbi.nlm.nih.gov/39524536/). *Genes Dis*. [Basic Science / Preclinical]
Zavala L (2025). [PMID: 41000718](https://pubmed.ncbi.nlm.nih.gov/41000718/). *bioRxiv*. [Basic Science / Preclinical]
Kuroda Y (2024). [PMID: 38605133](https://pubmed.ncbi.nlm.nih.gov/38605133/). *J Hum Genet*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 8:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614969

Orphanet

European rare disease database

Orphanet:284339

GARD

Genetic and Rare Diseases Info Center

GARD:17315

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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Kisho

pontocerebellar hypoplasia type 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Pontocerebellar Hypoplasia linked mutations of the deadenylase Target of EGR1 (TOE1) impair thermal stability, ribonuclease activity, and oligomerization.

Genetic and Clinical Insights into Pontocerebellar Hypoplasia: Identification of Novel Variants in an Iranian Cohort.

pontocerebellar hypoplasia type 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Pontocerebellar Hypoplasia linked mutations of the deadenylase Target of EGR1 (TOE1) impair thermal stability, ribonuclease activity, and oligomerization.

Genetic and Clinical Insights into Pontocerebellar Hypoplasia: Identification of Novel Variants in an Iranian Cohort.