MCID: INT095
MIFTS: 22

Internal Carotid Agenesis

Categories: Cardiovascular diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Internal Carotid Agenesis

MalaCards integrated aliases for Internal Carotid Agenesis:

Name: Internal Carotid Agenesis 52 58
Agenesis of the Internal Carotid Artery 52
Internal Carotid Artery Agenesis 52

Characteristics:

Orphanet epidemiological data:

58
internal carotid agenesis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q28.1
Orphanet 58 ORPHA981

Summaries for Internal Carotid Agenesis

NIH Rare Diseases : 52 Internal carotid agenesis occurs when one or both of the blood vessels that supply blood to the brain (internal carotid arteries ) do not develop (agenesis ). The missing carotid artery can be on either side of the body. People missing one or both of the internal carotid arteries may not have any symptoms, because the body develops other blood vessel pathways to carry blood to the head. Some people do have symptoms including headaches, blurred vision, paralysis of some of the nerves in the head (palsy), recurrent seizures (epilepsy ), or muscle weakness on one side of the body (hemiparesis ). People who have internal carotid agenesis have an increased risk for enlargement of the other blood vessels (aneurysm ) in the brain. The exact cause of internal carotid agenesis is not known. Diagnosis of internal carotid agenesis often occurs accidentally when a person is having a brain MRI or CT scan . The diagnosis can be confirmed with magnetic resonance angiography (MRA). Due to a higher risk of brain aneurysms seen in people who have internal carotid agenesis, screening for aneurysms may be recommended. In some cases, surgery may be necessary to treat symptoms caused by internal carotid agenesis.

MalaCards based summary : Internal Carotid Agenesis, also known as agenesis of the internal carotid artery, is related to horner's syndrome and migraine with or without aura 1. Affiliated tissues include brain, and related phenotypes are cerebral ischemia and subarachnoid hemorrhage

Related Diseases for Internal Carotid Agenesis

Diseases related to Internal Carotid Agenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 horner's syndrome 10.4
2 migraine with or without aura 1 10.3
3 cerebral aneurysms 10.3
4 right aortic arch 10.2
5 tetralogy of fallot 10.2
6 intracranial aneurysm 10.2
7 hemangioma 10.2
8 pituitary hypoplasia 10.2
9 aneurysm 10.2
10 facial paralysis 10.1
11 neurofibromatosis, type ii 10.0
12 alagille syndrome 1 10.0
13 fibromuscular dysplasia 10.0
14 hemifacial microsomia 10.0
15 trigeminal neuralgia 10.0
16 arachnoid cysts, intracranial 10.0
17 charge syndrome 10.0
18 branchiootic syndrome 1 10.0
19 meningioma, radiation-induced 10.0
20 phace association 10.0
21 meningioma, familial 10.0
22 choanal atresia, posterior 10.0
23 cyanosis, transient neonatal 10.0
24 ptosis 10.0
25 microphthalmia 10.0
26 amnestic disorder 10.0
27 anhidrosis 10.0
28 spinal meningioma 10.0
29 carotid stenosis 10.0
30 transient global amnesia 10.0
31 hypothyroidism 10.0
32 vacterl association 10.0
33 ventricular septal defect 10.0
34 heart septal defect 10.0
35 epilepsy 10.0
36 dysostosis 10.0
37 capillary hemangioma 10.0
38 cavernous sinus meningioma 10.0
39 secretory meningioma 10.0
40 lymphoplasmacyte-rich meningioma 10.0
41 cavernous hemangioma 10.0
42 neurofibromatosis 10.0
43 47,xyy 10.0
44 amaurosis fugax 10.0
45 craniofacial microsomia 10.0
46 mthfr gene variant 10.0
47 cerebral hypoxia 10.0
48 head injury 10.0
49 headache 10.0
50 cerebral cortical dysplasia 10.0

Graphical network of the top 20 diseases related to Internal Carotid Agenesis:



Diseases related to Internal Carotid Agenesis

Symptoms & Phenotypes for Internal Carotid Agenesis

Human phenotypes related to Internal Carotid Agenesis:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cerebral ischemia 58 31 frequent (33%) Frequent (79-30%) HP:0002637
2 subarachnoid hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0002138
3 dilatation of the cerebral artery 58 31 frequent (33%) Frequent (79-30%) HP:0004944
4 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
5 arachnoid cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0100702

Drugs & Therapeutics for Internal Carotid Agenesis

Search Clinical Trials , NIH Clinical Center for Internal Carotid Agenesis

Genetic Tests for Internal Carotid Agenesis

Anatomical Context for Internal Carotid Agenesis

MalaCards organs/tissues related to Internal Carotid Agenesis:

40
Brain

Publications for Internal Carotid Agenesis

Articles related to Internal Carotid Agenesis:

(show top 50) (show all 54)
# Title Authors PMID Year
1
A case of right internal carotid agenesis with associated transcavernous anastomosis revealed by transient ischemic attack. 61
31535194 2020
2
Symptomatic Internal Carotid Agenesis in Children. 61
32373380 2020
3
Congenital Third Nerve Palsy Associated With Midbrain Hypoplasia Due to Bilateral Segmental Internal Carotid Artery Agenesis. 61
29738350 2018
4
Agenesis of the internal carotid artery. 61
30643511 2018
5
Unilateral internal carotid artery agenesis: Correct diagnosis using computed tomography (CT) scan. 61
30210738 2018
6
Left internal carotid artery agenesis associated with communicating arteries anomalies. A case report. 61
30173270 2018
7
Trigeminal neuralgia caused by a new variant of persistent trigeminal artery associated with agenesis of internal carotid artery. 61
28675346 2017
8
Internal Carotid Artery Agenesis with an Intercavernous Anastomosis: A Rare Case. 61
28781055 2017
9
Right Aortic Arch Associated with Left Internal Carotid Artery Agenesis. 61
28840084 2017
10
Internal carotid artery agenesis: A case report and review of literature. 61
28424012 2017
11
Agenesis of the internal carotid artery: a family pathology? 61
28460204 2017
12
Congenital absence of internal carotid artery with intercavernous anastomosis: Case report and systematic review of the literature. 61
27091873 2016
13
Internal carotid artery agenesis with stenosed intercavernous anastomosis: a case report. 61
27231043 2016
14
[Acute abducens nerve palsy as a result of bilateral internal carotid artery agenesis]. 61
26951874 2016
15
Internal carotid artery agenesis associated with a rare collateral pathway: supraclinoid-supraclinoid anastomosis. A case report. 61
26251023 2016
16
Left internal carotid artery agenesis with trans-sellar collateral and a right aortic arch: Case report. 61
26472640 2015
17
Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion. 61
25655429 2015
18
Coexistence of left internal carotid agenesis, klippel-feil syndrome and postaxial polydactyly. 61
25806098 2015
19
An important clue in the sonographic diagnosis of internal carotid artery agenesis: ipsilateral common carotid artery hypoplasia. 61
25097789 2014
20
A Ruptured Aneurysm at the Infraoptic Azygous Anterior Cerebral Artery with the Contralateral Internal Carotid Artery Agenesis Treated by Y-stent Assisted Coil Embolization. 61
23210054 2012
21
Unilateral agenesis of the internal carotid artery presented as transient ischaemic attack: a case report. 61
22105687 2012
22
The missed missing hole. 61
22699546 2012
23
Internal carotid artery agenesis associated with trigeminal neuralgia. 61
21927819 2011
24
Left internal carotid artery agenesis associated with basilar and left vertebral artery aneurysm. 61
22267995 2011
25
Internal carotid artery agenesis: diagnosis, clinical spectrum, associated conditions and its importance in the era of stroke interventions. 61
20712923 2010
26
Cervical vascular and upper airway asymmetry in Velo-cardio-facial syndrome: correlation of nasopharyngoscopy with MRA. 61
20363509 2010
27
Internal carotid artery agenesis and basilar artery aneurysm with third nerve palsy. 61
20472202 2010
28
Agenesis of bilateral internal carotid artery associated with basilar artery fenestration mimicking intra-arterial thrombus: a case report. 61
19917560 2010
29
Infraoptic course of the anterior cerebral artery originating from the extradural internal carotid artery associated with contralateral internal carotid artery agenesis and multiple intracerebral aneurysms. 61
21123981 2010
30
A ruptured anterior communicating artery aneurysm associated with internal carotid artery agenesis and a middle cerebral artery anomaly. 61
19200736 2009
31
Right aortic arch related to Kommerell diverticulum and internal carotid artery agenesis. 61
19808569 2009
32
Agenesis of internal carotid artery in a child with ipsilateral Horner's syndrome. 61
19168824 2009
33
Right internal carotid artery agenesis. 61
19190881 2008
34
[Not Available]. 61
19547664 2008
35
Bilateral internal carotid artery agenesis with artery compression of the brain parenchyma. 61
18565545 2008
36
Bilateral internal carotid absence: a case report of a rare congenital anomaly. 61
18329557 2008
37
MRI of bilateral internal carotid artery agenesis. 61
17875148 2007
38
Goldenhar syndrome in association with agenesia of the internal carotid artery. 61
17161873 2007
39
Agenesis of bilateral internal carotid arteries and posterior fossa abnormality in a patient with facial capillary hemangioma: presumed incomplete phenotypic expression of PHACE syndrome. 61
16286414 2005
40
Internal carotid agenesis and Fanconi's anemia: a rare association. 61
12029350 2002
41
[Complete imaging study of internal carotid artery agenesis with intercavernous anastomosis]. 61
11972149 2002
42
Bilateral internal carotid agenesis: value of CT angiography and correlation to embryogenesis. 61
11372623 2001
43
[Agenesis of the internal carotid artery: two cases report]. 61
10705145 2000
44
Magnetic resonance imaging in internal carotid artery agenesis with computed tomography and angiographic correlation--case reports. 61
10535724 1999
45
Major congenital anomalies of the internal carotid artery: agenesis, aplasia and hypoplasia. 61
10428407 1999
46
Bilateral internal carotid artery agenesis. 61
8708697 1996
47
Bilateral internal carotid artery agenesis in a child with psychomotor developmental delay. 61
8858708 1996
48
Posterior cerebral artery aneurysm associated with unilateral internal carotid artery agenesis--Case report. 61
8657336 1995
49
[Bilateral carotid artery agenesis with corpus callosum hypogenesis--a case report]. 61
7605689 1995
50
[Internal carotid artery agenesis and multiple aneurysms in the posterior communicating artery]. 61
8024827 1994

Variations for Internal Carotid Agenesis

Expression for Internal Carotid Agenesis

Search GEO for disease gene expression data for Internal Carotid Agenesis.

Pathways for Internal Carotid Agenesis

GO Terms for Internal Carotid Agenesis

Sources for Internal Carotid Agenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....