AIC
MCID: ACR012
MIFTS: 46

Aicardi Syndrome (AIC) malady

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

Aliases & Classifications for Aicardi Syndrome

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Aicardi Syndrome:

Name: Aicardi Syndrome 52 11 23 48 24 25 49 54 12 39 13
Aicardi's Syndrome 25 27 68
Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities 25
Corpus Callosum, Agenesis of, with Chorioretinal Abnormality 48
Corpus Callosum Agenesis of with Chorioretinal Abnormality 54
 
Agenesis of Corpus Callosum with Chorioretinal Abnormality 25
Callosal Agenesis and Ocular Abnormalities 25
Chorioretinal Anomalies with Acc 25
Aic 48

Characteristics:

Orphanet epidemiological data:

54
aicardi syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: any age

HPO:

64
aicardi syndrome:
Inheritance: x-linked dominant inheritance

Classifications:



External Ids:

OMIM52 304050
Disease Ontology11 DOID:8461
MeSH39 D058540
NCIt45 C35256
Orphanet54 ORPHA50
SNOMED-CT62 80651009
ICD10 via Orphanet31 Q04.0
MESH via Orphanet40 D058540
UMLS via Orphanet69 C0175713
ICD1030 H32, H30.9

Summaries for Aicardi Syndrome

About this section
NIH Rare Diseases:48 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 seizures, seizures and Array. An important gene associated with Aicardi Syndrome is AIC (Aicardi Syndrome). Affiliated tissues include brain, eye and retina, and related mouse phenotype Decreased viability.

NINDS:49 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.

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

Disease Ontology:11 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.

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

GeneReviews for NBK1381

Related Diseases for Aicardi Syndrome

About this section

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



Diseases related to aicardi syndrome

Symptoms & Phenotypes for Aicardi Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

304050

Clinical features from OMIM:

304050

Human phenotypes related to Aicardi Syndrome:

 54 64 (show all 75)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate64 54 Occasional (29-5%) HP:0000175
2 cleft upper lip64 54 Occasional (29-5%) HP:0000204
3 microcephaly64 54 Frequent (79-30%) HP:0000252
4 short philtrum64 54 Frequent (79-30%) HP:0000322
5 protruding ear64 54 Frequent (79-30%) HP:0000411
6 retinal detachment64 54 Occasional (29-5%) HP:0000541
7 chorioretinal coloboma64 54 Occasional (29-5%) HP:0000567
8 microphthalmia64 54 Frequent (79-30%) HP:0000568
9 optic nerve coloboma64 54 Occasional (29-5%) HP:0000588
10 nystagmus64 54 Occasional (29-5%) HP:0000639
11 optic atrophy64 54 Occasional (29-5%) HP:0000648
12 delayed puberty64 54 Occasional (29-5%) HP:0000823
13 precocious puberty64 54 Occasional (29-5%) HP:0000826
14 bifid ribs64 54 Frequent (79-30%) HP:0000892
15 rib fusion64 54 Frequent (79-30%) HP:0000902
16 missing ribs64 54 Frequent (79-30%) HP:0000921
17 abnormality of skin pigmentation64 54 Occasional (29-5%) HP:0001000
18 multiple lipomas64 54 Occasional (29-5%) HP:0001012
19 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
20 spasticity64 54 Frequent (79-30%) HP:0001257
21 hypertonia54 Frequent (79-30%)
22 pachygyria64 54 Very frequent (99-80%) HP:0001302
23 partial agenesis of the corpus callosum64 54 Very frequent (99-80%) HP:0001338
24 plagiocephaly64 54 Occasional (29-5%) HP:0001357
25 hip dysplasia64 54 Occasional (29-5%) HP:0001385
26 constipation64 54 Occasional (29-5%) HP:0002019
27 gastroesophageal reflux64 54 Occasional (29-5%) HP:0002020
28 malabsorption64 54 Occasional (29-5%) HP:0002024
29 hiatus hernia64 54 Occasional (29-5%) HP:0002036
30 ventriculomegaly64 54 Frequent (79-30%) HP:0002119
31 polymicrogyria64 54 Very frequent (99-80%) HP:0002126
32 intellectual disability, moderate64 54 Very frequent (99-80%) HP:0002342
33 eeg abnormality64 54 Frequent (79-30%) HP:0002353
34 scoliosis64 54 Frequent (79-30%) HP:0002650
35 hepatoblastoma64 54 Occasional (29-5%) HP:0002884
36 block vertebrae64 54 Frequent (79-30%) HP:0003305
37 butterfly vertebrae64 54 Frequent (79-30%) HP:0003316
38 hemiplegia/hemiparesis64 54 Frequent (79-30%) HP:0004374
39 sparse lateral eyebrow64 54 Frequent (79-30%) HP:0005338
40 supernumerary ribs64 54 Frequent (79-30%) HP:0005815
41 aplasia/hypoplasia of the cerebellum64 54 Frequent (79-30%) HP:0007360
42 abnormality of retinal pigmentation64 54 Very frequent (99-80%) HP:0007703
43 feeding difficulties in infancy64 54 Occasional (29-5%) HP:0008872
44 premaxillary prominence54 Frequent (79-30%)
45 intellectual disability, severe64 54 Very frequent (99-80%) HP:0010864
46 moderate global developmental delay64 54 Very frequent (99-80%) HP:0011343
47 severe global developmental delay64 54 Very frequent (99-80%) HP:0011344
48 infantile spasms64 54 Very frequent (99-80%) HP:0012469
49 intestinal polyposis64 54 Occasional (29-5%) HP:0200008
50 small hand64 54 Occasional (29-5%) HP:0200055
51 facial asymmetry64 HP:0000324
52 anteverted nares64 HP:0000463
53 cataract64 HP:0000518
54 hemangioma64 HP:0001028
55 dandy-walker malformation64 HP:0001305
56 intellectual disability, profound64 HP:0002187
57 delayed cns myelination64 HP:0002188
58 choroid plexus cyst64 HP:0002190
59 heterotopia64 HP:0002282
60 arnold-chiari malformation64 HP:0002308
61 cavum septum pellucidum64 HP:0002389
62 spina bifida64 HP:0002414
63 hemivertebrae64 HP:0002937
64 recurrent pneumonia64 HP:0006532
65 dilation of lateral ventricles64 HP:0006956
66 dilated third ventricle64 HP:0007082
67 chorioretinal lacunae64 HP:0007858
68 postnatal growth retardation64 HP:0008897
69 proximal placement of thumb64 HP:0009623
70 teratoma64 HP:0009792
71 skin tags64 HP:0010609
72 prominence of the premaxilla64 HP:0010759
73 epileptic spasms64 HP:0011097
74 lipoma64 HP:0012032
75 metastatic angiosarcoma64 HP:0200059

UMLS symptoms related to Aicardi Syndrome:


seizures

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00381-A-19.0CDKL5, FLNA

Drugs & Therapeutics for Aicardi Syndrome

About this section

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Abacavirapproved, investigationalPhase 2214136470-78-565140, 441300
Synonyms:
(+/-)-4-[2-Amino-6-(cyclopropylamino)-9H-purin-9-yl]-2-cyclopentene-1-methanol
(+/-)-Abacavir
(1S,4R)-4-[2-Amino-6-(cyclopropylamino)-9H-purin-9-yl]-2-cyclopentene-1-methanol
136470-78-5
1592U89
168146-84-7
ABC
AC1L9AXG
Abacavir (INN)
Abacavir [INN]
Bio-0001
C07624
CHEBI:421707
 
CHEMBL1380
CID441300
D07057
DB01048
Epzicom
NCGC00164560-01
NCGC00164560-02
NSC742406
Trizivir
ZINC02015928
Ziagen
Ziagen (TM)(*Succinate salt*)
[(1S,4R)-4-[2-amino-6-(cyclopropylamino)purin-9-yl]cyclopent-2-en-1-yl]methanol
abacavir
{(1S-cis)-4-[2-amino-6-(cyclopropylamino)-9H-purin-9-yl]cyclopent-2-en-1-yl}methanol
2
Lamivudineapproved, investigationalPhase 2621134678-17-460825
Synonyms:
(+/-) (Cis)-1-[2-(Hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(+/-)-3TC
(+/-)-BCH-189
(+/-)-SddC
(-)-(2'R,5'S)-1-[2'-Hydroxymethyl-5'-(1,3-oxathiolanyl)]cytosine
(-)-1-((2R,5S)-2-(Hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
(-)-1-[(2R,5S)-2-(Hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-2'-Deoxy-3'-thiacytidine
(-)-BCH 189
(-)-BCH-189
(-)-SddC
(-)-beta-L-2',3'-Dideoxy-3'-thiacytidine
(-)NGPB-21
(2R,cis)-4-amino-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
.beta.-L-(-)-2',3'-dideoxy-3'-thiacytidine & Sho-Saiko-To
134678-17-4
2',3' Dideoxy 3' thiacytidine
2',3'-Dideoxy-3'-thiacytidine
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (+/-) (Cis)
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S)
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S) & Galanthus Nivalis Agglutinin (GNA)
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S) & Hippeastrum hybrid agglutinin( HHA)
3'-Thia-2',3'-dideoxycytidine
3TC
3TC & GNA
3TC & SST
3TC (AIDS INITIATIVE) (AIDS INITIATIVE)
3TC and NV-01
3TC, Zeffix, Heptovir, Epivir, Epivir-HBV, Lamivudine
4-Amino-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
4-amino-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2(1H)-one
4-amino-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2-one
480434-79-5
AC-1416
AC1L1TZZ
AC1Q6C34
BCH 189
BCH-189
BCH-790
BCH189
BIDD:GT0033
Bio-0652
C07065
C8H11N3O3S
CCRIS 9274
CHEBI:133986
CHEMBL141
CID60825
CPD000466319
D00353
D019259
 
DB00709
DRG-0126
DTHC
Epivir
Epivir (TN)
Epivir(TM)
Epivir-HBV
Epzicom
FT-0082667
GG-714
GR 109714X
GR-109714X
GR109714X
HHA & 3TC
HHA & Lamivudine
HMS2051D21
HSDB 7155
Hepitec
Heptivir
Heptodin
Heptovir
L0217
LMV
LS-2107
Lamivir
Lamivudin
Lamivudina
Lamivudine
Lamivudine & GNA
Lamivudine (JAN/USP/INN)
Lamivudine [USAN:BAN:INN]
Lamivudine [USAN:INN:BAN]
Lamivudine [Usan:Ban:Inn]
Lamivudine, (2S-cis)-Isomer
Lamivudinum
MLS000759424
MLS001424097
MolPort-002-507-347
NCGC00159341-03
NCGC00159341-04
NSC620753
S1706_Selleck
SAM001246582
SAM002589994
SMR000466319
STK801940
UNII-2T8Q726O95
ZINC00012346
Zeffix
Zefix
beta-L-2',3'-Dideoxy-3'-thiacytidine
beta-L-3'-Thia-2',3'-dideoxycytidine
lamivudine
3
ZidovudineapprovedPhase 249530516-87-135370
Synonyms:
-Azido-3&prime
-deoxythymidine
1-(3-Azido-2,3-dideoxy-beta-D-ribofuranosyl)thymine
3&prime
3' Azido 2',3' Dideoxythymidine
3' Azido 3' deoxythymidine
3'-Azido-2',3'-Dideoxythymidine
3'-Azido-3'-deoxythymidine
3'-Azido-3'-deoxythymidine & Concanavalin A
3'-Azido-3'-deoxythymidine & Erythropoietin
3'-Azido-3'-deoxythymidine & Heteropolyoxotungstate PM-19
3'-Azido-3'-deoxythymidine & Interleukin-1
3'-Azido-3'-deoxythymidine & Interleukin-2
3'-Azido-3'-deoxythymidine & Interleukin-6
3'-Azido-3'-deoxythymidine & Lithium & Erythropoietin
3'-Azido-3'-deoxythymidine & Lithium & Interleukin-1
3'-Azido-3'-deoxythymidine & Lithium & Interleukin-6
3'-Azido-3'-deoxythymidine & Lymphoblastoid Interferon
3'-Azido-3'-deoxythymidine & Sho-Saiko-To
3'-Azido-3'-deoxythymidine (AIDS)
3'-Azido-3'deoxythymidine & Interferon .alpha.
3'-Azidothymidine
3'-Deoxy-3'-azidothymidine
3'-azido-3'-deoxythymidine, AZT
3-Azido-3-deoxythymidine
30516-87-1
399024-19-2
A2169_SIGMA
AC1L1TKL
AC1Q2OEK
AZT
AZT & CD4(178)-PE 40
AZT & Colony-stimulating factor 2
AZT & Concanavalin A (ConA)
AZT & EPO
AZT & GM-CSF
AZT & HPA
AZT & IFN.alpha.
AZT & IL-1
AZT & IL-2
AZT & IL-6
AZT & Interferon-.alpha.-2
AZT & Li & EPO
AZT & Li & GM-CSF
AZT & Li & IL-1
AZT & Li & IL-6
AZT & Lymphoblastoid Interferon
AZT & NP (from PHCA or HSA)
AZT & PM-19
AZT & SST
AZT & rIFN.alpha.2
AZT & rsCD4 & rIFN.alpha.A
AZT & rsT4
AZT & sCD4
AZT & srCD4
AZT (Antiviral)
AZT Antiviral
AZT TRANSPLACENTAL CARCINOGENESIS STUDY
AZT+PRO 140
AZT, Antiviral
Antiviral AZT
Apo-Zidovudine
Azidothymidine
Aztec
BB_NC-1012
BPBio1_000403
BRD-K72903603-001-04-6
BSPBio_000365
BSPBio_003153
BW A509U
BW-A 509U
BW-A-509U
BW-A509U
BWA 509U
BWA-509U
BWA509U
C07210
CCRIS 105
CHEBI:10110
CHEBI:127307
CHEMBL129
CID35370
 
CPD000058351
Compound S
Cpd S
D00413
D015215
DB00495
DRG-0004
DS-4152 & AZT
DivK1c_000524
HMS1921J20
HMS2090G11
HMS2092D06
HMS501K06
HSDB 6515
IDI1_000524
Interferon AD + 3'-azido-3'-deoxythymidine
Intron A & AZT
K7 [P Ti2 W10 O40]
KBio1_000524
KBio2_001828
KBio2_004396
KBio2_006964
KBio3_002653
KBioGR_000703
KBioSS_001828
LS-1159
Liposomal AZT-SN-1
Liposomal AZT-SN-3
MLS000028548
MLS001055351
MLS001076358
MLS002153202
MLS002222249
Met-SDF-1.beta. & AZT
Met-SDF-1.beta. & Zidovudine
MolPort-002-507-286
NCGC00023945-03
NCGC00023945-04
NCGC00023945-05
NCGC00023945-08
NCGC00178237-01
NCGC00178237-02
NINDS_000524
NSC 602670
Novo-Azt
PC-SOD+AZT
Prestwick3_000333
Propolis+AZT
Racemic Liposomal AZT
Retrovir
Retrovir (TN)
Retrovir(TM)
SAM002548971
SMR000058351
SN-1-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
SN-3-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
SPBio_000834
SPECTRUM1502109
STK801891
Spectrum2_000927
Spectrum3_001507
Spectrum4_000332
Spectrum5_001101
Spectrum_001348
UNII-4B9XT59T7S
ZDV
ZIDOVUDINE [AZT]
ZINC03779042
ZVD
Zidovudin
Zidovudina
Zidovudina [Spanish]
Zidovudine (JAN/USP/INN)
Zidovudine EP III
Zidovudine [USAN:INN:BAN:JAN]
Zidovudine+PRO 140
Zidovudinum
Zidovudinum [Latin]
antiviral
azidodeoxythymidine
rIFN-beta seron & AZT
racemic-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
zidovudin
zidovudine
4Nucleic Acid Synthesis InhibitorsPhase 24962
5Reverse Transcriptase InhibitorsPhase 21913
6Pharmaceutical SolutionsPhase 28192
7Antiviral AgentsPhase 29967
8Anti-HIV AgentsPhase 23162
9Anti-Infective AgentsPhase 222062
10AntimetabolitesPhase 212054
11Anti-Retroviral AgentsPhase 23296
12interferonsPhase 22175

Interventional clinical trials:

idNameStatusNCT IDPhase
1Reverse Transcriptase Inhibitors in AGSRecruitingNCT02363452Phase 2
2Study of Selected X-Linked Disorders: Aicardi SyndromeRecruitingNCT00697411
3Brain Development Research ProgramRecruitingNCT00305305
4Compassionate Use Protocol for the Treatment of Autoinflammatory SyndromesAvailableNCT01724580

Search NIH Clinical Center for Aicardi Syndrome


Cochrane evidence based reviews: aicardi syndrome

Genetic Tests for Aicardi Syndrome

About this section

Genetic tests related to Aicardi Syndrome:

id Genetic test Affiliating Genes
1 Aicardi's Syndrome27
2 Aicardi Syndrome24

Anatomical Context for Aicardi Syndrome

About this section

MalaCards organs/tissues related to Aicardi Syndrome:

36
Brain, Eye, Retina, Skin, Cerebellum, Pineal, Cortex

Publications for Aicardi Syndrome

About this section

Articles related to Aicardi Syndrome:

(show top 50)    (show all 143)
idTitleAuthorsYear
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

About this section

Copy number variations for Aicardi Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1257113X124900000Copy numberAicardi syndrome

Expression for genes affiliated with Aicardi Syndrome

About this section
Search GEO for disease gene expression data for Aicardi Syndrome.

Pathways for genes affiliated with Aicardi Syndrome

About this section

GO Terms for genes affiliated with Aicardi Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1Rac GTPase bindingGO:00483659.0CDKL5, FLNA

Sources for Aicardi Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet