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vascular hyalinosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

vascular hyalinosis

MONDO:0010177

Also known as:Rambaud-Gallian syndromeRambaud-Gallian-Touchard syndromeretinal ischaemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome

Overview

A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and graying hair, as well as severe diarrhea, rectal bleeding, malabsorption and subarachnoid hemorrhage.

GeneticsAutosomal recessive

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: Diarrhea, Protein-losing enteropathy, Hematochezia, and Malabsorption and 6 more.

Organ System	Phenotype Count	Example Features
Digestive system	2	Diarrhea, Malabsorption
Brain and nerves

Diagnosis

Biomarker and diagnostic research for vascular hyalinosis has been reported in the published literature.

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.

No clinical trials have been registered for vascular hyalinosis.

105 publications have been identified in PubMed for vascular hyalinosis. Kisho has analyzed 55 by research type. Research spans Review / Meta-Analysis (69%), Basic Science / Preclinical (18%), and Epidemiology / Natural History (5%).

Research Type	Count	% of Total
Research summaries	38	69%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:277175

Orphanet

European rare disease database

Orphanet:3018

GARD

Genetic and Rare Diseases Info Center

GARD:4635

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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vascular hyalinosis

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

vascular hyalinosis

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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