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microcephaly 6, primary, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly 6, primary, autosomal recessive

MONDO:0012029

Also known as:CENPJ autosomal recessive primary microcephalyautosomal recessive primary microcephaly caused by mutation in CENPJMCPH6

Overview

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene.

GeneticsAutosomal recessive · CPAP (chr 13)

ResearchLimited published research (1 article)

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: Microcephaly, Moderate intellectual disability, Strabismus, and Seizure and others; and common findings: Absent speech. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Moderate intellectual disability, Absent speech, Small cerebral cortex

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.

CPAP encodes centrosome assembly and centriole elongation protein (1,338 aa). Plays an important role in cell division and centrosome function by participating in centriole duplication. Inhibits microtubule nucleation from the centrosome. Highest expression in Testis (36.1 TPM) and Thyroid (26.9 TPM).

Microcephaly 6, primary, autosomal recessive is associated with mutations in the CPAP gene on chromosome 13.

The CPAP protein participates in TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain pathway.

CPAP is classified as a druggable target with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 8 always present features, 1 common feature.

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 microcephaly 6, primary, autosomal recessive.

1 publication has been identified in PubMed for microcephaly 6, primary, autosomal recessive. Research spans Basic Science / Preclinical (100%).

Recent Publications

Mengistu DY (2026). [PMID: 42063344](https://pubmed.ncbi.nlm.nih.gov/42063344/). *Development*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608393

GARD

Genetic and Rare Diseases Info Center

GARD:15431

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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microcephaly 6, primary, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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