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microcephaly 30, primary, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly 30, primary, autosomal recessive

MONDO:0859342

Overview

GeneticsAutosomal recessive · BUB1 (chr 2)

ResearchLimited published research (5 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: Secundum atrial septal defect, Cerebral cortical atrophy, Primary microcephaly, and Enlarged brain ventricles (ventriculomegaly) and others; and common findings: Epicanthus, Choanal stenosis, Inguinal hernia, and Cleft soft palate and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Cerebral cortical atrophy, Enlarged brain ventricles (ventriculomegaly), Intellectual disability

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.

BUB1 encodes BUB1 mitotic checkpoint serine/threonine kinase (1,085 aa). Serine/threonine-protein kinase that performs 2 crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Highest expression in Cells EBV-transformed lymphocytes (89.0 TPM) and Testis (46.6 TPM).

Microcephaly 30, primary, autosomal recessive is associated with mutations in the BUB1 gene on chromosome 2.

The BUB1 protein participates in Resolution of Sister Chromatid Cohesion pathway.

BUB1 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 6.5.

Diagnosis

Genetic testing for BUB1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 14 common 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 microcephaly 30, primary, autosomal recessive.

5 publications have been identified in PubMed for microcephaly 30, primary, autosomal recessive. Research spans Basic Science / Preclinical (60%), Review / Meta-Analysis (20%), and Case Report / Case Series (20%).

Recent Publications

Mengistu DY (2026). [PMID: 42063344](https://pubmed.ncbi.nlm.nih.gov/42063344/). *Development*. [Basic Science / Preclinical]
Khan MA (2025). [PMID: 40801391](https://pubmed.ncbi.nlm.nih.gov/40801391/). *J Genet*. [Basic Science / Preclinical]
Chakraborty S (2025). [PMID: 41074654](https://pubmed.ncbi.nlm.nih.gov/41074654/). *Fly (Austin)*. [Review / Meta-Analysis]
Paracha SA (2024). [PMID: 39281811](https://pubmed.ncbi.nlm.nih.gov/39281811/). *Front Med (Lausanne)*. [Basic Science / Preclinical]
Ferreira A (2024). [PMID: 39490209](https://pubmed.ncbi.nlm.nih.gov/39490209/). *Stem Cell Res*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 11:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620183

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 30, primary, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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