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spondyloepiphyseal dysplasia, nishimura type (SEDN) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondyloepiphyseal dysplasia, nishimura type

MONDO:0032835

Also known as:SEDN

Overview

GeneticsAutosomal dominant · MIR140 (chr 16)

ResearchLimited published research (3 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: Delayed epiphyseal ossification, Brachydactyly, Short nose, and Midface retrusion and others; and common findings: Inspiratory stridor and Recurrent respiratory infections. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	3	Cone-shaped epiphyses of the phalanges of the hand, Disproportionate short-limb short stature, Small hand

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.

MIR140 encodes microRNA 140 (508 aa). RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Highest expression in Adipose Subcutaneous (0.0 TPM) and Adipose Visceral Omentum (0.0 TPM).

Spondyloepiphyseal dysplasia, nishimura type is associated with mutations in the MIR140 gene on chromosome 16.

MIR140 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MIR140 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features, 2 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 spondyloepiphyseal dysplasia, nishimura type.

3 publications have been identified in PubMed for spondyloepiphyseal dysplasia, nishimura type. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Ikeda M (2026). [PMID: 41530545](https://pubmed.ncbi.nlm.nih.gov/41530545/). *J Hum Genet*. [Case Report / Case Series]
Farshadyeganeh P (2024). [PMID: 38424183](https://pubmed.ncbi.nlm.nih.gov/38424183/). *Journal of human genetics*. [Case Report / Case Series]
Wang Z (2024). [PMID: 39014191](https://pubmed.ncbi.nlm.nih.gov/39014191/). *Journal of human genetics*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618618

Questions for Your Care Team

→Should I pursue genetic testing for MIR140, and what would the results mean for my family?
→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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spondyloepiphyseal dysplasia, nishimura type

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

Questions for Your Care Team

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