MCID: ACR012
MIFTS: 45

Aicardi Syndrome 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, 26GTR, 29ICD10, 30ICD10 via Orphanet, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 48NINDS, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Aicardi Syndrome:

Name: Aicardi Syndrome 51 11 23 47 24 25 48 53 12 38 13
Aicardi's Syndrome 25 26 67
Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities 25
Corpus Callosum, Agenesis of, with Chorioretinal Abnormality 47
Corpus Callosum Agenesis of with Chorioretinal Abnormality 53
 
Agenesis of Corpus Callosum with Chorioretinal Abnormality 25
Callosal Agenesis and Ocular Abnormalities 25
Chorioretinal Anomalies with Acc 25
Aic 47

Characteristics:

Orphanet epidemiological data:

53
aicardi syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: any age

HPO:

63
aicardi syndrome:
Inheritance: x-linked dominant inheritance

Classifications:



External Ids:

OMIM51 304050
Disease Ontology11 DOID:8461
MeSH38 D058540
NCIt44 C35256
Orphanet53 ORPHA50
SNOMED-CT61 80651009
ICD10 via Orphanet30 Q04.0
MESH via Orphanet39 D058540
UMLS via Orphanet68 C0175713
ICD1029 H32, H30.9

Summaries for Aicardi Syndrome

About this section
NINDS:48 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.

MalaCards based summary: Aicardi Syndrome, also known as aicardi's syndrome, is related to aicardi-goutieres syndrome 1, dominant and recessive and choroiditis, and has symptoms including seizures, abnormality of neuronal migration and aplasia/hypoplasia of the corpus callosum. An important gene associated with Aicardi Syndrome is AIC (Aicardi Syndrome). Affiliated tissues include brain, eye and retina.

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:51 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:70 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 for Aicardi Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

304050

Clinical features from OMIM:

304050

Human phenotypes related to Aicardi Syndrome:

 63 53 (show all 89)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures63 hallmark (90%) HP:0001250
2 abnormality of neuronal migration63 hallmark (90%) HP:0002269
3 aplasia/hypoplasia of the corpus callosum63 hallmark (90%) HP:0007370
4 abnormality of retinal pigmentation63 53 hallmark (90%) Very frequent (99-80%) HP:0007703
5 cognitive impairment63 hallmark (90%) HP:0100543
6 microcephaly63 53 typical (50%) Frequent (79-30%) HP:0000252
7 short philtrum63 53 typical (50%) Frequent (79-30%) HP:0000322
8 abnormality of the pinna63 typical (50%) HP:0000377
9 abnormality of the ribs63 typical (50%) HP:0000772
10 muscular hypotonia63 53 typical (50%) Frequent (79-30%) HP:0001252
11 hypertonia63 53 typical (50%) Frequent (79-30%) HP:0001276
12 eeg abnormality63 53 typical (50%) Frequent (79-30%) HP:0002353
13 scoliosis63 53 typical (50%) Frequent (79-30%) HP:0002650
14 vertebral segmentation defect63 typical (50%) HP:0003422
15 hemiplegia/hemiparesis63 53 typical (50%) Frequent (79-30%) HP:0004374
16 sparse lateral eyebrow63 53 typical (50%) Frequent (79-30%) HP:0005338
17 aplasia/hypoplasia of the cerebellum63 53 typical (50%) Frequent (79-30%) HP:0007360
18 aplasia/hypoplasia affecting the eye63 typical (50%) HP:0008056
19 malar prominence63 typical (50%) HP:0010620
20 abnormality of the genital system63 occasional (7.5%) HP:0000078
21 oral cleft63 occasional (7.5%) HP:0000202
22 retinal detachment63 53 occasional (7.5%) Occasional (29-5%) HP:0000541
23 chorioretinal coloboma63 53 occasional (7.5%) Occasional (29-5%) HP:0000567
24 optic nerve coloboma63 53 occasional (7.5%) Occasional (29-5%) HP:0000588
25 nystagmus63 53 occasional (7.5%) Occasional (29-5%) HP:0000639
26 optic atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0000648
27 precocious puberty63 53 occasional (7.5%) Occasional (29-5%) HP:0000826
28 abnormality of skin pigmentation63 53 occasional (7.5%) Occasional (29-5%) HP:0001000
29 multiple lipomas63 53 occasional (7.5%) Occasional (29-5%) HP:0001012
30 plagiocephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0001357
31 constipation63 53 occasional (7.5%) Occasional (29-5%) HP:0002019
32 malabsorption63 53 occasional (7.5%) Occasional (29-5%) HP:0002024
33 hepatoblastoma63 53 occasional (7.5%) Occasional (29-5%) HP:0002884
34 abnormality of the hip bone63 occasional (7.5%) HP:0003272
35 short palm63 occasional (7.5%) HP:0004279
36 vascular neoplasm63 occasional (7.5%) HP:0100742
37 intestinal polyposis63 53 occasional (7.5%) Occasional (29-5%) HP:0200008
38 cleft palate63 53 Occasional (29-5%) HP:0000175
39 cleft upper lip63 53 Occasional (29-5%) HP:0000204
40 facial asymmetry63 HP:0000324
41 anteverted nares63 HP:0000463
42 cataract63 HP:0000518
43 microphthalmia63 53 Frequent (79-30%) HP:0000568
44 bifid ribs63 53 Frequent (79-30%) HP:0000892
45 rib fusion63 53 Frequent (79-30%) HP:0000902
46 missing ribs63 53 Frequent (79-30%) HP:0000921
47 hemangioma63 HP:0001028
48 pachygyria63 53 Very frequent (99-80%) HP:0001302
49 dandy-walker malformation63 HP:0001305
50 partial agenesis of the corpus callosum63 53 Very frequent (99-80%) HP:0001338
51 hiatus hernia63 53 Occasional (29-5%) HP:0002036
52 polymicrogyria63 53 Very frequent (99-80%) HP:0002126
53 intellectual disability, profound63 HP:0002187
54 delayed cns myelination63 HP:0002188
55 choroid plexus cyst63 HP:0002190
56 heterotopia63 HP:0002282
57 arnold-chiari malformation63 HP:0002308
58 cavum septum pellucidum63 HP:0002389
59 spina bifida63 HP:0002414
60 hemivertebrae63 HP:0002937
61 block vertebrae63 53 Frequent (79-30%) HP:0003305
62 butterfly vertebrae63 53 Frequent (79-30%) HP:0003316
63 supernumerary ribs63 53 Frequent (79-30%) HP:0005815
64 recurrent pneumonia63 HP:0006532
65 dilation of lateral ventricles63 HP:0006956
66 dilated third ventricle63 HP:0007082
67 chorioretinal lacunae63 HP:0007858
68 postnatal growth retardation63 HP:0008897
69 proximal placement of thumb63 HP:0009623
70 teratoma63 HP:0009792
71 skin tags63 HP:0010609
72 prominence of the premaxilla63 HP:0010759
73 epileptic spasms63 HP:0011097
74 lipoma63 HP:0012032
75 infantile spasms63 53 Very frequent (99-80%) HP:0012469
76 metastatic angiosarcoma63 HP:0200059
77 protruding ear53 Frequent (79-30%)
78 delayed puberty53 Occasional (29-5%)
79 spasticity53 Frequent (79-30%)
80 hip dysplasia53 Occasional (29-5%)
81 gastroesophageal reflux53 Occasional (29-5%)
82 ventriculomegaly53 Frequent (79-30%)
83 intellectual disability, moderate53 Very frequent (99-80%)
84 feeding difficulties in infancy53 Occasional (29-5%)
85 premaxillary prominence53 Frequent (79-30%)
86 intellectual disability, severe53 Very frequent (99-80%)
87 moderate global developmental delay53 Very frequent (99-80%)
88 severe global developmental delay53 Very frequent (99-80%)
89 small hand53 Occasional (29-5%)

UMLS symptoms related to Aicardi Syndrome:


seizures, hyperexplexia

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 2211136470-78-565140, 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 2613134678-17-460825
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 249430516-87-135370
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 24855
5Reverse Transcriptase InhibitorsPhase 21880
6Pharmaceutical SolutionsPhase 27793
7Antiviral AgentsPhase 29732
8Anti-HIV AgentsPhase 23100
9Anti-Infective AgentsPhase 221402
10AntimetabolitesPhase 211774
11Anti-Retroviral AgentsPhase 23232
12interferonsPhase 22137

Interventional clinical trials:

idNameStatusNCT IDPhase
1Reverse Transcriptase Inhibitors in AGSRecruitingNCT02363452Phase 2
2Study of Selected X-Linked Disorders: Aicardi SyndromeRecruitingNCT00697411
3Brain Development Research ProgramRecruitingNCT00305305

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 Syndrome26
2 Aicardi Syndrome24

Anatomical Context for Aicardi Syndrome

About this section

MalaCards organs/tissues related to Aicardi Syndrome:

35
Brain, Eye, Retina, Skin, Cerebellum, Bone, Pineal

Animal Models for Aicardi Syndrome or affiliated genes

About this section

Publications for Aicardi Syndrome

About this section

Articles related to Aicardi Syndrome:

(show top 50)    (show all 141)
idTitleAuthorsYear
1
Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome. (27781033)
2016
2
Iris cyst in a child with Aicardi syndrome: a novel association. (27320016)
2016
3
Aicardi syndrome in a 47 XXY male - a variable developmental phenotype? (24657013)
2014
4
Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression? (23801936)
2013
5
Serial fetal MRI for the diagnosis of Aicardi syndrome. (24007726)
2013
6
Peripapillary chorioretinal lacunae in a girl with 3q21.3 to 3q22.1 microdeletion with features of Aicardi syndrome. (24052130)
2013
7
Choroidal neovascularization and bevacizumab therapy in Aicardi syndrome. (22546998)
2013
8
An unusual case of aicardi syndrome. (25390946)
2012
9
Ophthalmologic findings in Aicardi syndrome. (22681940)
2012
10
Aicardi syndrome. (22815034)
2012
11
Oral extragonadal yolk sac tumor in a patient with Aicardi syndrome: putative origin and differential diagnosis. (22225777)
2012
12
Chorioretinal architecture in Aicardi syndrome: an optical coherence tomography and fluorescein angiography study. (21777802)
2011
13
Laterality of brain and ocular lesions in Aicardi syndrome. (21824560)
2011
14
Diffusion tensor imaging of Aicardi syndrome. (20610117)
2010
15
Novel presentation of Aicardi syndrome with agenesis of the corpus callosum and an orbital cyst. (20427798)
2010
16
Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome. (19107491)
2009
17
Aicardi syndrome: the importance of an ophthalmologist in its diagnosis. (19384023)
2009
18
Arachnoid cyst and costovertebral defects in Aicardi syndrome. (22530764)
2009
19
Aicardi syndrome in a male patient. (19639527)
2009
20
Intractable reflex audiogenic seizures in Aicardi syndrome. (17084998)
2007
21
Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. (17621479)
2007
22
Anesthesia in a child with Aicardi syndrome. (17986050)
2007
23
Aicardi syndrome associated with anterior cephalocele in a female infant. (17518934)
2007
24
Aicardi syndrome with favorable outcome: case report and review. (17207597)
2007
25
Aicardi syndrome choroid plexus cysts. (17453044)
2007
26
Aicardi syndrome: follow-up investigation of Swedish children born in 1975-2002. (18058626)
2007
27
Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002. (16967367)
2006
28
Aicardi syndrome: chorioretinal lacunae without corpus callosum agenesis. (17031307)
2006
29
Aicardi syndrome: an unusual case associated with pineal gland cyst and ventricular septal defect. (17156705)
2006
30
Facial and physical features of Aicardi syndrome: infants to teenagers. (16158440)
2005
31
Progressive pigmentation of chorioretinal lesions in aicardi syndrome. (15136335)
2004
32
Aicardi syndrome with Pierre Robin sequence. (15088056)
2004
33
Choroid plexus papilloma and Aicardi syndrome: case report. (12563397)
2002
34
Late observation of the GoutiA"res Aicardi syndrome. (9452350)
1998
35
Aicardi syndrome. (9640202)
1998
36
Aicardi syndrome with multiple tumors: a case report with literature review. (7503393)
1995
37
The association of cleft lip and palate with Aicardi syndrome. (8115518)
1994
38
Aicardi syndrome--the elusive mild case. (8060941)
1994
39
Aicardi syndrome, metastatic angiosarcoma of the leg, and scalp lipoma. (8456830)
1993
40
Aicardi syndrome: a longitudinal clinical and electroencephalographic study. (8330572)
1993
41
Aicardi syndrome: a variant example with new clinical findings. (8110415)
1993
42
EEG recognition of holoprosencephaly and Aicardi syndrome. (1612653)
1992
43
Multi-institutional survey of the Aicardi syndrome in Japan. (2092584)
1990
44
Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. (1971852)
1990
45
Aicardi syndrome associated with an embryonal carcinoma. (2653339)
1989
46
A Golgi study of the polymicrogyric cortex in Aicardi syndrome. (3799920)
1986
47
Aicardi syndrome. Report of 6 cases and a review of Japanese literature. (4061784)
1985
48
Aicardi syndrome. A cause of infantile seizures. (6423337)
1984
49
The Aicardi syndrome versus congenital infection: diagnostic considerations. (7351584)
1980
50
The Aicardi syndrome: report of 4 cases and review of the literature. (111607)
1979

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet