Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

obesity due to CEP19 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

obesity due to CEP19 deficiency

MONDO:0014309

Also known as:MOSPGFmorbid obesity and spermatogenic failure

Overview

GeneticsAutosomal recessive · CEP19 (chr 3)

ResearchLimited published research (4 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: Hepatic steatosis, Hypertension, and Oligozoospermia; and very common findings: Obesity. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Premature coronary artery atherosclerosis, Hypertension, Myocardial infarction

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.

CEP19 encodes centrosomal protein 19 (163 aa). Required for ciliation. Recruits the RABL2B GTPase to the ciliary base to initiate ciliation. Highest expression in Testis (21.9 TPM) and Brain Frontal Cortex BA9 (10.0 TPM).

Obesity due to CEP19 deficiency is associated with mutations in the CEP19 gene on chromosome 3.

CEP19 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CEP19 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 4 common features.

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

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 obesity due to CEP19 deficiency.

4 publications have been identified in PubMed for obesity due to CEP19 deficiency. Research spans Basic Science / Preclinical (75%) and Review / Meta-Analysis (25%).

Recent Publications

Faccioli N (2026). [PMID: 41451896](https://pubmed.ncbi.nlm.nih.gov/41451896/). *Obesity (Silver Spring, Md.)*. [Basic Science / Preclinical]
Kanie T (2025). [PMID: 39882855](https://pubmed.ncbi.nlm.nih.gov/39882855/). *eLife*. [Basic Science / Preclinical]
Upadhyai P (2025). [PMID: 40395934](https://pubmed.ncbi.nlm.nih.gov/40395934/). *Frontiers in cell and developmental biology*. [Basic Science / Preclinical]
Zhang Q (2024). [PMID: 39126056](https://pubmed.ncbi.nlm.nih.gov/39126056/). *International journal of molecular sciences*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615703

Orphanet

European rare disease database

Orphanet:397615

GARD

Genetic and Rare Diseases Info Center

GARD:17631

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?

← Back to All Diseases

obesity due to CEP19 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features