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immunodeficiency 94 with autoinflammation and dysmorphic facies (IMD94) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 94 with autoinflammation and dysmorphic facies

MONDO:0030681

Also known as:IMD94

Overview

GeneticsMultifactorial, Autosomal dominant · IL6ST (chr 5)

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: Anteverted nares, Short stature, Deep philtrum, and Bone tissue death from poor blood supply (avascular necrosis) and others.

Organ System	Phenotype Count	Example Features
Head and neck	3	High palate, Macrocephaly, Mandibular prognathia

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.

IL6ST encodes interleukin 6 cytokine family signal transducer (918 aa). Signal-transducing molecule. The receptor systems for IL6, LIF, OSM, CNTF, IL11, CTF1 and BSF3 can utilize IL6ST for initiating signal transmission. Highest expression in Cells Cultured fibroblasts (214.0 TPM) and Adipose Visceral Omentum (117.2 TPM).

Immunodeficiency 94 with autoinflammation and dysmorphic facies is associated with mutations in the IL6ST gene on chromosome 5.

The IL6ST protein participates in JAK1,JAK2,(TYK2) bind IL6ST and CDH1,CDH11 promote stabilization of IL6ST protein pathways.

IL6ST is classified as a druggable target (Clinically Actionable, Druggable Genome, External Side Of Plasma Membrane, Kinase, and Tyrosine Kinase categories) with score 7.0.

Diagnosis

Genetic testing for IL6ST is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 29 always present features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:59 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619750

Questions for Your Care Team

→Should I pursue genetic testing for IL6ST, 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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immunodeficiency 94 with autoinflammation and dysmorphic facies

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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