MCID: ACR012
MIFTS: 45

Aicardi Syndrome malady

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

Aliases & Classifications for Aicardi Syndrome

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Sources:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 13DISEASES, 52Orphanet, 12diseasecard, 37MeSH, 25GTR, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 28ICD10, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Aicardi Syndrome:

Name: Aicardi Syndrome 50 11 22 46 23 24 47 13 52 12 37
Aicardi's Syndrome 24 25 66
Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities 24
Corpus Callosum, Agenesis of, with Chorioretinal Abnormality 46
Corpus Callosum Agenesis of with Chorioretinal Abnormality 52
 
Agenesis of Corpus Callosum with Chorioretinal Abnormality 24
Callosal Agenesis and Ocular Abnormalities 24
Chorioretinal Anomalies with Acc 24
Aic 46

Characteristics:

Orphanet epidemiological data:

52
aicardi syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: any age

HPO:

62
aicardi syndrome:
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM50 304050
Disease Ontology11 DOID:8461
MeSH37 D058540
NCIt43 C35256
Orphanet52 ORPHA50
SNOMED-CT60 80651009
ICD10 via Orphanet29 Q04.0
MESH via Orphanet38 D058540
UMLS via Orphanet67 C0175713
ICD1028 H32, H30.9

Summaries for Aicardi Syndrome

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NINDS:47 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 hepatoblastoma and corpus callosum agenesis, 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 eye, brain and retina.

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.

Genetics Home Reference:24 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:50 Aicardi syndrome is characterized by a triad of callosal agenesis, infantile spasms, and chorioretinal lacunae... (304050) more...

Wikipedia:69 Not be confused with Aicardi-Goutières syndrome more...

GeneReviews summary for NBK1381

Related Diseases for Aicardi Syndrome

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



Diseases related to aicardi syndrome

Symptoms for Aicardi Syndrome

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Symptoms by clinical synopsis from OMIM:

304050

Clinical features from OMIM:

304050

Symptoms:

 52 (show all 50)
  • cleft palate
  • cleft upper lip
  • microcephaly
  • short philtrum
  • protruding ear
  • retinal detachment
  • chorioretinal coloboma
  • microphthalmos
  • optic nerve coloboma
  • nystagmus
  • optic atrophy
  • delayed puberty
  • precocious puberty
  • bifid ribs
  • rib fusion
  • missing ribs
  • abnormality of skin pigmentation
  • multiple lipomas
  • muscular hypotonia
  • spasticity
  • hypertonia
  • pachygyria
  • partial agenesis of the corpus callosum
  • plagiocephaly
  • hip dysplasia
  • constipation
  • gastroesophageal reflux
  • malabsorption
  • hiatus hernia
  • ventriculomegaly
  • polymicrogyria
  • intellectual disability, moderate
  • eeg abnormality
  • scoliosis
  • hepatoblastoma
  • block vertebrae
  • butterfly vertebrae
  • hemiplegia/hemiparesis
  • sparse lateral eyebrow
  • supernumerary ribs
  • aplasia/hypoplasia of the cerebellum
  • abnormal retinal pigmentation
  • feeding difficulties in infancy
  • premaxillary prominence
  • intellectual disability, severe
  • moderate global developmental delay
  • severe global developmental delay
  • infantile spasms
  • intestinal polyposis
  • small hand

HPO human phenotypes related to Aicardi Syndrome:

(show all 86)
id Description Frequency HPO Source Accession
1 seizures hallmark (90%) HP:0001250
2 abnormality of neuronal migration hallmark (90%) HP:0002269
3 aplasia/hypoplasia of the corpus callosum hallmark (90%) HP:0007370
4 abnormality of retinal pigmentation hallmark (90%) HP:0007703
5 cognitive impairment hallmark (90%) HP:0100543
6 microcephaly typical (50%) HP:0000252
7 short philtrum typical (50%) HP:0000322
8 abnormality of the pinna typical (50%) HP:0000377
9 abnormality of the ribs typical (50%) HP:0000772
10 muscular hypotonia typical (50%) HP:0001252
11 hypertonia typical (50%) HP:0001276
12 eeg abnormality typical (50%) HP:0002353
13 scoliosis typical (50%) HP:0002650
14 vertebral segmentation defect typical (50%) HP:0003422
15 hemiplegia/hemiparesis typical (50%) HP:0004374
16 sparse lateral eyebrow typical (50%) HP:0005338
17 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
18 aplasia/hypoplasia affecting the eye typical (50%) HP:0008056
19 malar prominence typical (50%) HP:0010620
20 abnormality of the genital system occasional (7.5%) HP:0000078
21 oral cleft occasional (7.5%) HP:0000202
22 retinal detachment occasional (7.5%) HP:0000541
23 chorioretinal coloboma occasional (7.5%) HP:0000567
24 optic nerve coloboma occasional (7.5%) HP:0000588
25 nystagmus occasional (7.5%) HP:0000639
26 optic atrophy occasional (7.5%) HP:0000648
27 precocious puberty occasional (7.5%) HP:0000826
28 abnormality of skin pigmentation occasional (7.5%) HP:0001000
29 multiple lipomas occasional (7.5%) HP:0001012
30 plagiocephaly occasional (7.5%) HP:0001357
31 constipation occasional (7.5%) HP:0002019
32 malabsorption occasional (7.5%) HP:0002024
33 hepatoblastoma occasional (7.5%) HP:0002884
34 abnormality of the hip bone occasional (7.5%) HP:0003272
35 short palm occasional (7.5%) HP:0004279
36 vascular neoplasm occasional (7.5%) HP:0100742
37 intestinal polyposis occasional (7.5%) HP:0200008
38 cleft palate HP:0000175
39 cleft upper lip HP:0000204
40 microcephaly HP:0000252
41 facial asymmetry HP:0000324
42 anteverted nares HP:0000463
43 cataract HP:0000518
44 retinal detachment HP:0000541
45 microphthalmia HP:0000568
46 optic nerve coloboma HP:0000588
47 nystagmus HP:0000639
48 optic atrophy HP:0000648
49 precocious puberty HP:0000826
50 bifid ribs HP:0000892
51 rib fusion HP:0000902
52 missing ribs HP:0000921
53 hemangioma HP:0001028
54 muscular hypotonia HP:0001252
55 pachygyria HP:0001302
56 dandy-walker malformation HP:0001305
57 partial agenesis of the corpus callosum HP:0001338
58 hiatus hernia HP:0002036
59 polymicrogyria HP:0002126
60 intellectual disability, profound HP:0002187
61 delayed cns myelination HP:0002188
62 choroid plexus cyst HP:0002190
63 heterotopia HP:0002282
64 arnold-chiari malformation HP:0002308
65 cavum septum pellucidum HP:0002389
66 spina bifida HP:0002414
67 scoliosis HP:0002650
68 hepatoblastoma HP:0002884
69 hemivertebrae HP:0002937
70 block vertebrae HP:0003305
71 butterfly vertebrae HP:0003316
72 sparse lateral eyebrow HP:0005338
73 supernumerary ribs HP:0005815
74 recurrent pneumonia HP:0006532
75 dilation of lateral ventricles HP:0006956
76 dilated third ventricle HP:0007082
77 chorioretinal lacunae HP:0007858
78 postnatal growth retardation HP:0008897
79 proximal placement of thumb HP:0009623
80 teratoma HP:0009792
81 skin tags HP:0010609
82 prominence of the premaxilla HP:0010759
83 epileptic spasms HP:0011097
84 lipoma HP:0012032
85 infantile spasms HP:0012469
86 metastatic angiosarcoma HP:0200059

UMLS symptoms related to Aicardi Syndrome:


seizures, hyperexplexia

Drugs & Therapeutics for Aicardi Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ZidovudinePhase 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
2
LamivudinePhase 2605134678-17-460825
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
3interferonsPhase 22112
4
AbacavirPhase 2207136470-78-565140, 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
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

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

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Genetic tests related to Aicardi Syndrome:

id Genetic test Affiliating Genes
1 Aicardi's Syndrome25
2 Aicardi Syndrome23

Anatomical Context for Aicardi Syndrome

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MalaCards organs/tissues related to Aicardi Syndrome:

34
Eye, Brain, Retina, Skin, Bone, Cerebellum, Pineal

Animal Models for Aicardi Syndrome or affiliated genes

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Publications for Aicardi Syndrome

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Articles related to Aicardi Syndrome:

(show top 50)    (show all 138)
idTitleAuthorsYear
1
Iris cyst in a child with Aicardi syndrome: a novel association. (27320016)
2016
2
Aicardi syndrome in a 47 XXY male - a variable developmental phenotype? (24657013)
2014
3
Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression? (23801936)
2013
4
Serial fetal MRI for the diagnosis of Aicardi syndrome. (24007726)
2013
5
Peripapillary chorioretinal lacunae in a girl with 3q21.3 to 3q22.1 microdeletion with features of Aicardi syndrome. (24052130)
2013
6
Choroidal neovascularization and bevacizumab therapy in Aicardi syndrome. (22546998)
2013
7
An unusual case of aicardi syndrome. (25390946)
2012
8
Ophthalmologic findings in Aicardi syndrome. (22681940)
2012
9
Aicardi syndrome. (22815034)
2012
10
Oral extragonadal yolk sac tumor in a patient with Aicardi syndrome: putative origin and differential diagnosis. (22225777)
2012
11
Chorioretinal architecture in Aicardi syndrome: an optical coherence tomography and fluorescein angiography study. (21777802)
2011
12
Laterality of brain and ocular lesions in Aicardi syndrome. (21824560)
2011
13
Diffusion tensor imaging of Aicardi syndrome. (20610117)
2010
14
Novel presentation of Aicardi syndrome with agenesis of the corpus callosum and an orbital cyst. (20427798)
2010
15
Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome. (19107491)
2009
16
Aicardi syndrome: the importance of an ophthalmologist in its diagnosis. (19384023)
2009
17
Arachnoid cyst and costovertebral defects in Aicardi syndrome. (22530764)
2009
18
Aicardi syndrome in a male patient. (19639527)
2009
19
Intractable reflex audiogenic seizures in Aicardi syndrome. (17084998)
2007
20
Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. (17621479)
2007
21
Anesthesia in a child with Aicardi syndrome. (17986050)
2007
22
Aicardi syndrome associated with anterior cephalocele in a female infant. (17518934)
2007
23
Aicardi syndrome with favorable outcome: case report and review. (17207597)
2007
24
Aicardi syndrome choroid plexus cysts. (17453044)
2007
25
Aicardi syndrome: follow-up investigation of Swedish children born in 1975-2002. (18058626)
2007
26
Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002. (16967367)
2006
27
Aicardi syndrome: chorioretinal lacunae without corpus callosum agenesis. (17031307)
2006
28
Aicardi syndrome: an unusual case associated with pineal gland cyst and ventricular septal defect. (17156705)
2006
29
Facial and physical features of Aicardi syndrome: infants to teenagers. (16158440)
2005
30
Progressive pigmentation of chorioretinal lesions in aicardi syndrome. (15136335)
2004
31
Aicardi syndrome with Pierre Robin sequence. (15088056)
2004
32
Choroid plexus papilloma and Aicardi syndrome: case report. (12563397)
2002
33
Late observation of the GoutiA"res Aicardi syndrome. (9452350)
1998
34
Aicardi syndrome. (9640202)
1998
35
Aicardi syndrome with multiple tumors: a case report with literature review. (7503393)
1995
36
The association of cleft lip and palate with Aicardi syndrome. (8115518)
1994
37
Aicardi syndrome--the elusive mild case. (8060941)
1994
38
Aicardi syndrome, metastatic angiosarcoma of the leg, and scalp lipoma. (8456830)
1993
39
Aicardi syndrome: a longitudinal clinical and electroencephalographic study. (8330572)
1993
40
Aicardi syndrome: a variant example with new clinical findings. (8110415)
1993
41
EEG recognition of holoprosencephaly and Aicardi syndrome. (1612653)
1992
42
Multi-institutional survey of the Aicardi syndrome in Japan. (2092584)
1990
43
Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. (1971852)
1990
44
Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization. (2248284)
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

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Copy number variations for Aicardi Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
12571130124900000Copy numberAicardi syndrome

Expression for genes affiliated with Aicardi Syndrome

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Search GEO for disease gene expression data for Aicardi Syndrome.

Pathways for genes affiliated with Aicardi Syndrome

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GO Terms for genes affiliated with Aicardi Syndrome

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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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet