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infantile systemic hyalinosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

infantile systemic hyalinosis

MONDO:0016331

Find Clinical TrialsTrials

Overview

Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Clinical Trials1 registered

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

13 publications have been identified in PubMed for infantile systemic hyalinosis. Research spans Case Report / Case Series (92%) and Review / Meta-Analysis (8%).

Research Type	Count	% of Total
Patient case studies	12	92%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:236490

Orphanet

European rare disease database

Orphanet:2176

GARD

Genetic and Rare Diseases Info Center

GARD:6807

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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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infantile systemic hyalinosis

Overview

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications