AIC
MCID: ACR012
MIFTS: 46

Aicardi Syndrome (AIC) malady

Categories: Rare diseases, Eye diseases, Genetic diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Aicardi Syndrome

Aliases & Descriptions for Aicardi Syndrome:

Name: Aicardi Syndrome 54 12 23 50 24 25 51 56 13 42 14
Aicardi's Syndrome 25 29 69
Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities 25
Corpus Callosum, Agenesis of, with Chorioretinal Abnormality 50
Agenesis of Corpus Callosum with Chorioretinal Abnormality 25
Corpus Callosum Agenesis of with Chorioretinal Abnormality 56
Callosal Agenesis and Ocular Abnormalities 25
Chorioretinal Anomalies with Acc 25
Aic 50

Characteristics:

Orphanet epidemiological data:

56
aicardi syndrome
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: any age;

HPO:

32
aicardi syndrome:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 54 304050
Disease Ontology 12 DOID:8461
MeSH 42 D058540
NCIt 47 C35256
SNOMED-CT 64 80651009
Orphanet 56 ORPHA50
ICD10 via Orphanet 34 Q04.0
MESH via Orphanet 43 D058540
UMLS via Orphanet 70 C0175713
ICD10 33 H32 H30.9
UMLS 69 C0175713

Summaries for Aicardi Syndrome

NIH Rare Diseases : 50 aicardi syndrome is a rare neurological condition. the severity of the condition and the associated signs and symptoms vary significantly from person to person. aicardi syndrome is primarily characterized by an absence or underdevelopment of the corpus callosum (a structure that connects the two sides of the brain), but may also be associated with a variety of brain malformations. other signs and symptoms can include seizures beginning in infancy, abnormalities of the eye, developmental delay, intellectual disability, and characteristic facial features. the underlying cause of aicardi syndrome is currently unknown and most cases occur sporadically in people with no family history of the condition. however, researchers suspect that aicardi syndrome is caused by a dominant change (mutation) on the x-chromosome since it almost exclusively affects females. treatment is based on the signs and symptoms present in each person. last updated: 3/13/2017

MalaCards based summary : Aicardi Syndrome, also known as aicardi's syndrome, is related to corpus callosum agenesis and aicardi-goutieres syndrome 1, dominant and recessive, and has symptoms including constipation, nystagmus and precocious puberty. An important gene associated with Aicardi Syndrome is AIC (Aicardi Syndrome). The drugs Abacavir and Lamivudine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and retina, and related phenotype is Decreased viability.

Disease Ontology : 12 A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye.

Genetics Home Reference : 25 Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by three main features that occur together in most affected individuals. People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum). They have seizures beginning in infancy (infantile spasms), which tend to progress to recurrent seizures (epilepsy) that can be difficult to treat. Affected individuals also have chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye (retina).

OMIM : 54 Aicardi syndrome is characterized by a triad of callosal agenesis, infantile spasms, and chorioretinal lacunae... (304050) more...

NINDS : 51 Aicardi syndrome is a rare genetic disorder that primarily affects newborn girls. The condition is sporadic, meaning it is not known to pass from parent to child. (An exception is a report of two sisters and a pair of identical twins, all of whom were affected.) The mutation that causes Aicardi syndrome has not been identified, but it is thought to be caused by a dominant mutation that appears for the first time in a family in an x-linked gene that may be lethal in certain males.. Aicardi syndrome can be seen in boys born with an extra "X" chromosome. (Females have two X chromosomes, while males normally have an X and a Y chromosome.) The precise gene or genetic mechanism causing Aicardi syndrome is not yet known.

Wikipedia : 71 Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete... more...

GeneReviews: NBK1381

Related Diseases for Aicardi Syndrome

Graphical network of the top 20 diseases related to Aicardi Syndrome:



Diseases related to Aicardi Syndrome

Symptoms & Phenotypes for Aicardi Syndrome

Symptoms by clinical synopsis from OMIM:

304050

Clinical features from OMIM:

304050

Human phenotypes related to Aicardi Syndrome:

56 32 (show top 50) (show all 75)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 56 32 Occasional (29-5%) HP:0002019
2 nystagmus 56 32 Occasional (29-5%) HP:0000639
3 precocious puberty 56 32 Occasional (29-5%) HP:0000826
4 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
5 spasticity 56 32 Frequent (79-30%) HP:0001257
6 eeg abnormality 56 32 Frequent (79-30%) HP:0002353
7 scoliosis 56 32 Frequent (79-30%) HP:0002650
8 hip dysplasia 56 32 Occasional (29-5%) HP:0001385
9 malabsorption 56 32 Occasional (29-5%) HP:0002024
10 microcephaly 56 32 Frequent (79-30%) HP:0000252
11 optic atrophy 56 32 Occasional (29-5%) HP:0000648
12 abnormality of retinal pigmentation 56 32 Very frequent (99-80%) HP:0007703
13 gastroesophageal reflux 56 32 Occasional (29-5%) HP:0002020
14 feeding difficulties in infancy 56 32 Occasional (29-5%) HP:0008872
15 delayed puberty 56 32 Occasional (29-5%) HP:0000823
16 intellectual disability, severe 56 32 Very frequent (99-80%) HP:0010864
17 cleft palate 56 32 Occasional (29-5%) HP:0000175
18 hemiplegia/hemiparesis 56 32 Frequent (79-30%) HP:0004374
19 severe global developmental delay 56 32 Very frequent (99-80%) HP:0011344
20 protruding ear 56 32 Frequent (79-30%) HP:0000411
21 multiple lipomas 56 32 Occasional (29-5%) HP:0001012
22 ventriculomegaly 56 32 Frequent (79-30%) HP:0002119
23 aplasia/hypoplasia of the cerebellum 56 32 Frequent (79-30%) HP:0007360
24 chorioretinal coloboma 56 32 Occasional (29-5%) HP:0000567
25 intellectual disability, moderate 56 32 Very frequent (99-80%) HP:0002342
26 short philtrum 56 32 Frequent (79-30%) HP:0000322
27 microphthalmia 56 32 Frequent (79-30%) HP:0000568
28 small hand 56 32 Occasional (29-5%) HP:0200055
29 retinal detachment 56 32 Occasional (29-5%) HP:0000541
30 abnormality of skin pigmentation 56 32 Occasional (29-5%) HP:0001000
31 cleft upper lip 56 32 Occasional (29-5%) HP:0000204
32 intestinal polyposis 56 32 Occasional (29-5%) HP:0200008
33 optic nerve coloboma 56 32 Occasional (29-5%) HP:0000588
34 bifid ribs 56 32 Frequent (79-30%) HP:0000892
35 rib fusion 56 32 Frequent (79-30%) HP:0000902
36 missing ribs 56 32 Frequent (79-30%) HP:0000921
37 pachygyria 56 32 Very frequent (99-80%) HP:0001302
38 partial agenesis of the corpus callosum 56 32 Very frequent (99-80%) HP:0001338
39 plagiocephaly 56 32 Occasional (29-5%) HP:0001357
40 hiatus hernia 56 32 Occasional (29-5%) HP:0002036
41 polymicrogyria 56 32 Very frequent (99-80%) HP:0002126
42 hepatoblastoma 56 32 Occasional (29-5%) HP:0002884
43 block vertebrae 56 32 Frequent (79-30%) HP:0003305
44 butterfly vertebrae 56 32 Frequent (79-30%) HP:0003316
45 sparse lateral eyebrow 56 32 Frequent (79-30%) HP:0005338
46 supernumerary ribs 56 32 Frequent (79-30%) HP:0005815
47 moderate global developmental delay 56 32 Very frequent (99-80%) HP:0011343
48 infantile spasms 56 32 Very frequent (99-80%) HP:0012469
49 cataract 32 HP:0000518
50 anteverted nares 32 HP:0000463

UMLS symptoms related to Aicardi Syndrome:


seizures

GenomeRNAi Phenotypes related to Aicardi Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.23 CDKL5 FLNA
2 Decreased viability GR00221-A-1 9.23 CDKL5
3 Decreased viability GR00221-A-2 9.23 CDKL5
4 Decreased viability GR00221-A-3 9.23 CDKL5
5 Decreased viability GR00221-A-4 9.23 CDKL5
6 Decreased viability GR00342-S-1 9.23 CDKL5
7 Decreased viability GR00342-S-3 9.23 CDKL5

Drugs & Therapeutics for Aicardi Syndrome

Drugs for Aicardi Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Abacavir Approved, Investigational Phase 2 136470-78-5 65140 441300
2
Lamivudine Approved, Investigational Phase 2 134678-17-4 60825
3
Zidovudine Approved Phase 2 30516-87-1 35370
4 Anti-HIV Agents Phase 2
5 Anti-Infective Agents Phase 2
6 Antimetabolites Phase 2
7 Anti-Retroviral Agents Phase 2
8 Antiviral Agents Phase 2
9 interferons Phase 2
10 Nucleic Acid Synthesis Inhibitors Phase 2
11 Pharmaceutical Solutions Phase 2
12 Reverse Transcriptase Inhibitors Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Reverse Transcriptase Inhibitors in AGS Recruiting NCT02363452 Phase 2
2 Study of Selected X-Linked Disorders: Aicardi Syndrome Recruiting NCT00697411
3 Brain Development Research Program Recruiting NCT00305305
4 Compassionate Use Protocol for the Treatment of Autoinflammatory Syndromes Available NCT01724580

Search NIH Clinical Center for Aicardi Syndrome

Cochrane evidence based reviews: aicardi syndrome

Genetic Tests for Aicardi Syndrome

Genetic tests related to Aicardi Syndrome:

id Genetic test Affiliating Genes
1 Aicardi's Syndrome 29
2 Aicardi Syndrome 24

Anatomical Context for Aicardi Syndrome

MalaCards organs/tissues related to Aicardi Syndrome:

39
Brain, Eye, Retina, Skin, Cerebellum, Pineal, Cortex

Publications for Aicardi Syndrome

Articles related to Aicardi Syndrome:

(show top 50) (show all 143)
id Title Authors Year
1
Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients. ( 28361097 )
2017
2
Agenesis of the Corpus Callosum and Aicardi Syndrome: AA Neuroimaging and Clinical Comparison. ( 28214165 )
2017
3
Iris cyst in a child with Aicardi syndrome: a novel association. ( 27320016 )
2016
4
Late Presentation of Retinoblastoma in a Teen with Aicardi Syndrome. ( 27239462 )
2016
5
Aicardi syndrome: epilepsy surgery as a palliative treatment option for selected patients and pathological findings. ( 27818366 )
2016
6
A clinical study of Aicardi syndrome in Northern Ireland: the spectrum of ophthalmic findings. ( 27101753 )
2016
7
Aicardi syndrome: when to suspect the unexpected ( 27193831 )
2016
8
Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome. ( 27781033 )
2016
9
Aicardi Syndrome. ( 27450814 )
2016
10
A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome. ( 26091538 )
2015
11
Aicardi syndrome: an epidemiologic and clinical study in Norway. ( 25443581 )
2015
12
Aicardi syndrome in a 47 XXY male - a variable developmental phenotype? ( 24657013 )
2014
13
Aicardi syndrome: Neonatal diagnosis by means of transfontanellar ultrasound. ( 25071893 )
2014
14
Scoliosis in Children With Aicardi Syndrome. ( 25494028 )
2014
15
Peripapillary chorioretinal lacunae in a girl with 3q21.3 to 3q22.1 microdeletion with features of Aicardi syndrome. ( 24052130 )
2013
16
Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature. ( 23948796 )
2013
17
Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression? ( 23801936 )
2013
18
Choroidal neovascularization and bevacizumab therapy in Aicardi syndrome. ( 22546998 )
2013
19
Serial fetal MRI for the diagnosis of Aicardi syndrome. ( 24007726 )
2013
20
Aicardi syndrome in two Turkish children. ( 22750766 )
2013
21
Nevoid hypertrichosis of the face in a 3-month-old girl with Aicardi syndrome. ( 23985081 )
2013
22
Aicardi syndrome. ( 22815034 )
2012
23
Oral extragonadal yolk sac tumor in a patient with Aicardi syndrome: putative origin and differential diagnosis. ( 22225777 )
2012
24
Ophthalmologic findings in Aicardi syndrome. ( 22681940 )
2012
25
An unusual case of aicardi syndrome. ( 25390946 )
2012
26
Bilaterally independent epileptic spasms in a case of Aicardi syndrome. ( 21873145 )
2011
27
Chorioretinal architecture in Aicardi syndrome: an optical coherence tomography and fluorescein angiography study. ( 21777802 )
2011
28
Anesthetic management of a child with Aicardi syndrome undergoing laparoscopic Nissen's fundoplication: a case report. ( 21153034 )
2011
29
Laterality of brain and ocular lesions in Aicardi syndrome. ( 21824560 )
2011
30
Increasing recognition of cases with male Aicardi syndrome. ( 20032521 )
2010
31
Aicardi syndrome: a case report. ( 21080756 )
2010
32
Diffusion tensor imaging of Aicardi syndrome. ( 20610117 )
2010
33
Chorioretinal lacunae: pathognomonic findings for Aicardi syndrome. ( 21214162 )
2010
34
Orbital ectopic brain tissue in Aicardi syndrome. ( 20818257 )
2010
35
Optic nerve aplasia in Aicardi syndrome. ( 21214165 )
2010
36
Novel presentation of Aicardi syndrome with agenesis of the corpus callosum and an orbital cyst. ( 20427798 )
2010
37
Aicardi syndrome in a 47, XXY male neonate with lissencephaly and holoprosencephaly. ( 19155022 )
2009
38
Aicardi syndrome mimicking intrauterine hydrocephalus. ( 19004586 )
2009
39
Is 47 XXY the genetic marker for Aicardi syndrome? ( 19955350 )
2009
40
Aicardi syndrome in a male patient. ( 19639527 )
2009
41
A male phenotype with Aicardi syndrome. ( 19182158 )
2009
42
A genome-wide screen for copy number alterations in Aicardi syndrome. ( 19760649 )
2009
43
Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy. ( 19842196 )
2009
44
Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. ( 19116813 )
2009
45
Aicardi syndrome: the importance of an ophthalmologist in its diagnosis. ( 19384023 )
2009
46
Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration. ( 19610089 )
2009
47
Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome. ( 19107491 )
2009
48
Non-random X chromosome inactivation in Aicardi syndrome. ( 19116729 )
2009
49
Arachnoid cyst and costovertebral defects in Aicardi syndrome. ( 22530764 )
2009
50
New incidence, prevalence, and survival of Aicardi syndrome from 408 cases. ( 18182643 )
2008

Variations for Aicardi Syndrome

Copy number variations for Aicardi Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 257113 X 1 24900000 Copy number Aicardi syndrome

Expression for Aicardi Syndrome

Search GEO for disease gene expression data for Aicardi Syndrome.

Pathways for Aicardi Syndrome

GO Terms for Aicardi Syndrome

Molecular functions related to Aicardi Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Rac GTPase binding GO:0048365 8.62 CDKL5 FLNA

Sources for Aicardi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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