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hereditary neurocutaneous angioma - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary neurocutaneous angioma

MONDO:0007116

Also known as:angioma hereditary neurocutaneousangioma, hereditary neurocutaneoushemangiomatosis, disseminated

Overview

Hereditary neurocutaneous angioma is characterized by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral hemorrhage, and focal neurological deficit. Transmission is autosomal dominant.

GeneticsAutosomal dominant

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: Horner syndrome, Blood in the urine (hematuria), Hemiparesis, and Gastrointestinal hemorrhage and 1 more.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	1	Blood in the urine (hematuria)
Digestive system

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 hereditary neurocutaneous angioma.

1 publication has been identified in PubMed for hereditary neurocutaneous angioma. Research spans Case Report / Case Series (100%).

Recent Publications

Kumawat BL (2025). [PMID: 40840962](https://pubmed.ncbi.nlm.nih.gov/40840962/). *BMJ Case Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:106070

Orphanet

European rare disease database

Orphanet:1062

GARD

Genetic and Rare Diseases Info Center

GARD:676

Questions for Your Care Team

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hereditary neurocutaneous angioma

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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