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meckel syndrome 14 (MKS14) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

meckel syndrome 14

MONDO:0030819

Also known as:MKS14

Overview

GeneticsAutosomal recessive · TXNDC15 (chr 5)

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: Single ventricle, Anteverted nares, Occipital encephalocele, and Decreased calvarial ossification and others; and common findings: Hypertelorism, Talipes, Aplasia of the uterus, and Postaxial polydactyly and others. 32 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	2	Pulmonary hypoplasia, Pneumothorax

Genetic Landscape

TXNDC15 function has not been fully characterized.

Meckel syndrome 14 is associated with mutations in the TXNDC15 gene on chromosome 5.

Diagnosis

Genetic testing for TXNDC15 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 13 always present features, 6 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 meckel syndrome 14.

4 publications have been identified in PubMed for meckel syndrome 14. Research spans Review / Meta-Analysis (25%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

Liu Y (2026). [PMID: 41518077](https://pubmed.ncbi.nlm.nih.gov/41518077/). *Genesis*. [Gene Therapy / Novel Therapeutics]
Yang Q (2025). [PMID: 41317100](https://pubmed.ncbi.nlm.nih.gov/41317100/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Junior JHMF (2024). [PMID: 38459147](https://pubmed.ncbi.nlm.nih.gov/38459147/). *Childs Nerv Syst*. [Review / Meta-Analysis]
Caenen-Braz C (2024). [PMID: 39455645](https://pubmed.ncbi.nlm.nih.gov/39455645/). *Sci Rep*. [Basic Science / Preclinical]

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:619879

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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meckel syndrome 14

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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