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Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterized by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.
Features include: Dry, scaly skin (ichthyosis), Dysarthria, Ataxia, and Hepatosplenomegaly.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 2 | Dysarthria, Ataxia |
Skin |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome.
299 publications have been identified in PubMed for ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome. Kisho has analyzed 54 by research type. Research spans Review / Meta-Analysis (61%), Epidemiology / Natural History (15%), and Basic Science / Preclinical (11%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 33 | 61% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:34 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Dry, scaly skin (ichthyosis) |
Digestive system | 1 | Hepatosplenomegaly |
Disease patterns and progression | 8 | 15% |
Laboratory research | 6 | 11% |
Patient case studies | 3 | 6% |
New treatment approaches | 3 | 6% |
Clinical study results | 1 | 2% |
Shah KP (2026). [PMID: 34033319](https://pubmed.ncbi.nlm.nih.gov/34033319/). *Unknown Journal*. [Epidemiology / Natural History]
Kerr JB (2026). [PMID: 41453395](https://pubmed.ncbi.nlm.nih.gov/41453395/). *Hum Reprod Update*. [Review / Meta-Analysis]
Wang X (2026). [PMID: 41448386](https://pubmed.ncbi.nlm.nih.gov/41448386/). *Prog Retin Eye Res*. [Review / Meta-Analysis]
Jeong H (2026). [PMID: 41519378](https://pubmed.ncbi.nlm.nih.gov/41519378/). *Ophthalmol Retina*. [Basic Science / Preclinical]
Yuan Q (2026). [PMID: 41539473](https://pubmed.ncbi.nlm.nih.gov/41539473/). *J Genet Genomics*. [Basic Science / Preclinical]
Tirthani E (2026). [PMID: 33232100](https://pubmed.ncbi.nlm.nih.gov/33232100/). *Unknown Journal*. [Basic Science / Preclinical]
Shirley M (2026). [PMID: 41335372](https://pubmed.ncbi.nlm.nih.gov/41335372/). *Drugs*. [Review / Meta-Analysis]
Mann SJ (2026). [PMID: 30969542](https://pubmed.ncbi.nlm.nih.gov/30969542/). *Unknown Journal*. [Clinical Trial Publication]
Kunchok A (2026). [PMID: 41979003](https://pubmed.ncbi.nlm.nih.gov/41979003/). *Curr Opin Neurol*. [Review / Meta-Analysis]
Kalogeropoulos D (2025). [PMID: 41105983](https://pubmed.ncbi.nlm.nih.gov/41105983/). *Ocul Immunol Inflamm*. [Review / Meta-Analysis]
AI-curated news mentioning ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
Updated Apr 1, 2026
A recent publication details the 516th case of a rare disease characterized by hyperinflammatory state, acute renal dysfunction, hepatosplenomegaly with lymphadenopathy, and recurrent cerebral infarctions. This case adds to the understanding of complex presentations in rare diseases.