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dysostosis multiplex, Ain-Naz type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dysostosis multiplex, Ain-Naz type

MONDO:0859156

Overview

GeneticsAutosomal recessive · LYSET (chr 14)

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: Severe short stature, Sideways curvature of the spine (scoliosis), Thin corpus callosum, and Dysostosis multiplex and others; and very common findings: Difficulty walking (gait disturbance) and Abdominal distention. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	2	Sideways curvature of the spine (scoliosis), Elongated femoral neck

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.

LYSET encodes lysosomal enzyme trafficking factor (163 aa). Required for mannose-6-phosphate-dependent trafficking of lysosomal enzymes. Highest expression in Prostate (29.5 TPM) and Kidney Medulla (27.4 TPM).

Dysostosis multiplex, Ain-Naz type is associated with mutations in the LYSET gene on chromosome 14.

LYSET is classified as a druggable target with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 5 always present features, 2 very common features, 6 common features.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:59 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619345

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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dysostosis multiplex, Ain-Naz type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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