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internal carotid agenesis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

internal carotid agenesis

MONDO:0020048

Also known as:agenesis of the internal carotid arteryinternal carotid artery agenesis

Overview

Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerized tomography.

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 common findings: Subarachnoid hemorrhage, Cerebral ischemia, and Dilatation of the cerebral artery; and sometimes findings: Headache and Arachnoid cyst.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Cerebral ischemia, Dilatation of the cerebral artery, Headache

Prognosis

Phenotype severity distribution: 3 common features.

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 internal carotid agenesis.

14 publications have been identified in PubMed for internal carotid agenesis. Research spans Case Report / Case Series (79%), Review / Meta-Analysis (14%), and Other (7%).

Research Type	Count	% of Total
Patient case studies	11	79%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:981

GARD

Genetic and Rare Diseases Info Center

GARD:3012

Questions for Your Care Team

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Kisho

internal carotid agenesis

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Management Challenges of Internal Carotid Artery Pseudoaneurysm in Skull Base Osteomyelitis.

internal carotid agenesis

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Management Challenges of Internal Carotid Artery Pseudoaneurysm in Skull Base Osteomyelitis.