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hydrocephalus, congenital communicating, 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hydrocephalus, congenital communicating, 1

MONDO:0032862

Also known as:HYDCC1

Overview

GeneticsAutosomal dominant · TRIM71 (chr 3)

OnsetANTENATAL

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: Seizure, Neurodevelopmental delay, Enlarged brain ventricles (ventriculomegaly), and Communicating hydrocephalus.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Seizure, Enlarged brain ventricles (ventriculomegaly), Communicating hydrocephalus

Age of onset: before birth.

Genetic Landscape

TRIM71 function has not been fully characterized.

Hydrocephalus, congenital communicating, 1 is associated with mutations in the TRIM71 gene on chromosome 3.

Diagnosis

Genetic testing for TRIM71 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hydrocephalus, congenital communicating, 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present 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 hydrocephalus, congenital communicating, 1.

79 publications have been identified in PubMed for hydrocephalus, congenital communicating, 1. Research spans Case Report / Case Series (27%), Review / Meta-Analysis (22%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Patient case studies	21	27%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618667

GARD

Genetic and Rare Diseases Info Center

GARD:18090

Questions for Your Care Team

→Should I pursue genetic testing for TRIM71, 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

hydrocephalus, congenital communicating, 1

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

hydrocephalus, congenital communicating, 1

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