Internal carotid absence
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare vascular anomaly characterized by agenesis (complete absence of the carotid canal), aplasia (a remnant of the artery remains) or hypoplastic (incomplete embryonic development) of the internal carotid artery, which can be unilateral or bilateral. Children with the condition are mostly asymptomatic due to the presence of collateral circulation. With increasing age, the risk of cerebrovascular events increases. Patients may present with headache, seizures, or transient ischemic attacks. Cerebral aneurysms may form in the context of the condition.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Internal carotid absence | |
| fr | Absence de la carotide interne | |
| de | Fehlen der Arteria carotis interna | |
| es | Ausencia de la carótida interna | |
| it | Agenesia della carotide interna | |
| nl | Afwezigheid van arteria carotis interna | Agenesie van arteria carotis interna · Agenesie van binnenste halsslagader · Aplasie van binnenste halsslagader · Dysgenesie van binnenste halsslagader · Hypoplasie van binnenste halsslagader |
| pt | Ausência de carótida interna | |
| pl | Agnezja tętnicy szyjnej wewnętrznej | |
| cs | Ageneze vnitřních karotid | |
| uk | Відсутність внутрішньої сонної артерії | |
| zh | 颈内动脉发育不全 | |
| tr | İnternal karotis agenezi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q28.1 | NTBT | attributed | validated |
| ICD-11 | LA90.4Y | NTBT | index | validated |
| MONDO | 0020048 | E | validated | |
| UMLS | C4302907 | E | validated | |
| GARD | 3012 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:102006Neurovascular malformation
rare neurological diseases - ORPHA:458844Rare vascular malformation of major vessels
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | [EXPERT]_22851490[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
5 annotations · validated 2016-06-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002637 | Cerebral ischemia | |
| HP:0004944 | Dilatation of the cerebral artery | |
| HP:0002138 | Subarachnoid hemorrhage | |
| Occasional (29-5%) | ||
| HP:0100702 | Arachnoid cyst | |
| HP:0002315 | Headache | |
Annotation source: 27332518[PMID]_12601459[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/981
- This record as JSON: /data/d/981.json