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hydrocephalus, nonsyndromic, autosomal recessive 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hydrocephalus, nonsyndromic, autosomal recessive 1

MONDO:0009360

Also known as:CCDC88C congenital hydrocephaluscongenital hydrocephalus caused by mutation in CCDC88Chydrocephalus, congenital, 1

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Overview

Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene.

GeneticsAutosomal recessive · CCDC88C (chr 14)

Clinical Trials1 registered · 1 recruiting

Newborn ScreeningAll 50 states + 3 territories (3-Hydroxy-3-Methylglutaric Aciduria)

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, Hydrocephalus, and Enlarged brain ventricles (ventriculomegaly). 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Seizure, Hydrocephalus, Enlarged brain ventricles (ventriculomegaly)

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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.

CCDC88C encodes coiled-coil and HOOK domain protein 88C (2,028 aa). Required for activation of guanine nucleotide-binding proteins (G-proteins) during non-canonical Wnt signaling. Highest expression in Cells EBV-transformed lymphocytes (36.3 TPM) and Spleen (31.0 TPM).

Hydrocephalus, nonsyndromic, autosomal recessive 1 is associated with mutations in the CCDC88C gene on chromosome 14.

The CCDC88C protein participates in Negative regulation of TCF-dependent signaling by DVL-interacting proteins pathway.

CCDC88C is classified as a druggable target with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Hydrocephalus, nonsyndromic, autosomal recessive 1 is included in newborn screening programs (3-Hydroxy-3-Methylglutaric Aciduria) in all 50 states and 3 territories.

Genetic testing for CCDC88C is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hydrocephalus, nonsyndromic, autosomal recessive 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

127 publications have been identified in PubMed for hydrocephalus, nonsyndromic, autosomal recessive 1. Research spans Review / Meta-Analysis (30%), Epidemiology / Natural History (27%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Research summaries	38

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:236600

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→What follow-up testing and early intervention is recommended after a positive newborn screen?
→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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hydrocephalus, nonsyndromic, autosomal recessive 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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