CEP55 encodes centrosomal protein 55 (464 aa). Plays a role in mitotic exit and cytokinesis. Recruits PDCD6IP and TSG101 to midbody during cytokinesis. Required for successful completion of cytokinesis. Not required for microtubule nucleation. Highest expression in Cells EBV-transformed lymphocytes (54.0 TPM) and Cells Cultured fibroblasts (23.1 TPM).

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome is associated with mutations in the CEP55 gene on chromosome 10.

CEP55 is classified as a druggable target with score 0.0.

Genetic testing for CEP55 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome has been reported in the published literature.

Phenotype severity distribution: 17 always present features.

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

No clinical trials have been registered for multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome.

42 publications have been identified in PubMed for multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome. Research spans Case Report / Case Series (45%), Basic Science / Preclinical (36%), and Review / Meta-Analysis (10%).

Recent Publications

• Zhang Z (2026). [PMID: 40317819](https://pubmed.ncbi.nlm.nih.gov/40317819/). *Dev Dyn*. [Basic Science / Preclinical]

• Catinon M (2026). [PMID: 41620073](https://pubmed.ncbi.nlm.nih.gov/41620073/). *Joint Bone Spine*. [Diagnostic / Biomarker]

• Lu Y (2026). [PMID: 41608858](https://pubmed.ncbi.nlm.nih.gov/41608858/). *Elife*. [Basic Science / Preclinical]

• Liu S (2026). [PMID: 41890097](https://pubmed.ncbi.nlm.nih.gov/41890097/). *bioRxiv*. [Basic Science / Preclinical]

• Yao ZG (2026). [PMID: 41782063](https://pubmed.ncbi.nlm.nih.gov/41782063/). *Acta Neuropathol Commun*. [Basic Science / Preclinical]

• Sypniewska A (2026). [PMID: 41549266](https://pubmed.ncbi.nlm.nih.gov/41549266/). *BMC Vet Res*. [Case Report / Case Series]

• Zhao T (2026). [PMID: 42231833](https://pubmed.ncbi.nlm.nih.gov/42231833/). *Int J Surg Pathol*. [Case Report / Case Series]

• Suwala AK (2026). [PMID: 42236272](https://pubmed.ncbi.nlm.nih.gov/42236272/). *Neuro Oncol*. [Case Report / Case Series]

• Wang J (2026). [PMID: 41365188](https://pubmed.ncbi.nlm.nih.gov/41365188/). *Tissue Cell*. [Basic Science / Preclinical]

• Gudjonsdottir LR (2026). [PMID: 41297507](https://pubmed.ncbi.nlm.nih.gov/41297507/). *J Plast Reconstr Aesthet Surg*. [Epidemiology / Natural History]