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rhizomelic dysplasia, Ain-Naz type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

rhizomelic dysplasia, Ain-Naz type

MONDO:0859203

Overview

GeneticsAutosomal recessive · GNPNAT1 (chr 14)

ResearchLimited published research (1 article)

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, Enlarged joints, Large hands, and Distal humeral metaphyseal irregularity and others; and sometimes findings: Hypertelorism, Downslanted palpebral fissures, Wide nasal bridge, and Ptosis and others. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	13	Enlarged joints, Limitation of joint mobility, Squared iliac bones

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.

GNPNAT1 encodes glucosamine-phosphate N-acetyltransferase 1 (184 aa). Highest expression in Cells Cultured fibroblasts (56.1 TPM) and Cells EBV-transformed lymphocytes (21.5 TPM).

Rhizomelic dysplasia, Ain-Naz type is associated with mutations in the GNPNAT1 gene on chromosome 14.

The GNPNAT1 protein participates in Acetylation of glucosamine 6-phosphate to GlcNAc6P pathway.

GNPNAT1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for GNPNAT1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 31 always present 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 rhizomelic dysplasia, Ain-Naz type.

1 publication has been identified in PubMed for rhizomelic dysplasia, Ain-Naz type. Research spans Epidemiology / Natural History (100%).

Recent Publications

Pan P (2025). [PMID: 39945447](https://pubmed.ncbi.nlm.nih.gov/39945447/). *Mol Genet Genomic Med*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619598

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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rhizomelic dysplasia, Ain-Naz type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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