MCID: ACR012
MIFTS: 44

Aicardi Syndrome malady

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

Aliases & Classifications for Aicardi Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 46NINDS, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 65UMLS, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Aicardi Syndrome:

Name: Aicardi Syndrome 49 10 11 21 45 22 23 46 12 51 36
Aicardi's Syndrome 23 24 65
Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities 23
Corpus Callosum, Agenesis of, with Chorioretinal Abnormality 45
Corpus Callosum Agenesis of with Chorioretinal Abnormality 51
 
Agenesis of Corpus Callosum with Chorioretinal Abnormality 23
Callosal Agenesis and Ocular Abnormalities 23
Chorioretinal Anomalies with Acc 23
Aic 45

Characteristics:

Orphanet epidemiological data:

51
aicardi syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: any age

HPO:

61
aicardi syndrome:
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 304050
Disease Ontology10 DOID:8461
MeSH36 D058540
NCIt42 C35256
Orphanet51 50
SNOMED-CT59 80651009
ICD10 via Orphanet28 Q04.0
MESH via Orphanet37 D058540
UMLS via Orphanet66 C0175713
ICD1027 H32, H30.9
UMLS65 C0175713

Summaries for Aicardi Syndrome

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NINDS:46 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 hepatoblastoma, and has symptoms including cognitive impairment, abnormality of retinal pigmentation 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:10 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:23 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:49 Aicardi syndrome is characterized by a triad of callosal agenesis, infantile spasms, and chorioretinal lacunae... (304050) more...

Wikipedia:68 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:

 51 (show all 41)
  • retinitis pigmentosa/retinal pigmentary changes
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • corpus callosum/septum pellucidum total/partial agenesis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • x-linked dominant inheritance
  • microcephaly
  • prominent premaxillary region/midface
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • lateral thinning of eyebrows
  • short philtrum
  • prominent/bat ears
  • rib number anomalies
  • scoliosis
  • vertebral segmentation anomaly/hemivertebrae
  • dilated cerebral ventricles without hydrocephaly
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • eeg anomalies
  • hypotonia
  • hypertonia/spasticity/rigidity/stiffness
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • plagiocephaly
  • retinoschisis/retinal/chorioretinal coloboma
  • retinal detachment
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • coloboma of the optic nerve
  • nystagmus
  • cleft lip and palate
  • small hand/acromicria
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • xanthomas/lipomas
  • polyposis of the bowel/colon/intestine
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • malabsorption/chronic diarrhea/steatorrhea
  • constipation
  • precocious puberty
  • late puberty/hypogonadism/hypogenitalism
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • hepatoblastoma
  • vascular malignancy/tumor
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Aicardi Syndrome:

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

Drugs & Therapeutics for Aicardi Syndrome

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Lamivudineapproved, investigationalPhase 2594134678-17-460825
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
3-TC
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 HBV
Epivir(TM)
Epivir-HBV
Epzicom
FT-0082667
GG-714
GR 109714 X
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
2
ZidovudineapprovedPhase 249130516-87-135370
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
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
3
Abacavirapproved, investigationalPhase 2203136470-78-565140, 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 Sulfate
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
4Reverse Transcriptase InhibitorsPhase 21656
5Nucleic Acid Synthesis InhibitorsPhase 23836
6Pharmaceutical SolutionsPhase 27004
7interferonsPhase 21930
8Anti-Infective AgentsPhase 217220
9Anti-Retroviral AgentsPhase 22794
10Antiviral AgentsPhase 28071

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 Syndrome22

Anatomical Context for Aicardi Syndrome

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MalaCards organs/tissues related to Aicardi Syndrome:

33
Eye, Brain, Retina, Skin, Cerebellum, Colon, Bone

Animal Models for Aicardi Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Aicardi Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Aicardi Syndrome

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Articles related to Aicardi Syndrome:

(show top 50)    (show all 134)
idTitleAuthorsYear
1
CD30+ clonal T-cell lymphoid proliferation of the skin in a patient with hypereosinophilic syndrome. (25421540)
2015
2
Ectopic Adipose Tissue with Vasculitis in the Calf Muscle Explaining Systemic Symptoms in Leg-limited Cutaneous Polyarteritis Nodosa. (26059212)
2015
3
Neuroprotective effects of crocin on the histopathological alterations following brain ischemia-reperfusion injury in rat. (25691932)
2014
4
Adalimumab significantly reduces the recurrence rate of anterior uveitis in patients with ankylosing spondylitis. (25086071)
2014
5
Expression and cellular localization of the classical progesterone receptor in healthy and amyotrophic lateral sclerosis affected spinal cord. (24894997)
2014
6
What is the best way to step down therapy in patients with well-controlled asthma? (24361648)
2014
7
A single amino acid substitution in the measles virus F2 protein reciprocally modulates membrane fusion activity in pathogenic and oncolytic strains. (24368277)
2013
8
Effect of a gestational diabetes management programme on weight after pregnancy. (23952286)
2013
9
Emphysematous gastritis with delayed gastric perforation. (23307314)
2013
10
Polymorphisms of angiotensin-converting enzyme 2 gene confer a risk to lone atrial fibrillation in Chinese male patients. (24342297)
2013
11
Assessment of knowledge of skin cancer prevention and its relation with sun exposure and photo protection amongst gym academy members on the south of Santa Catarina, Brazil. (22481649)
2012
12
Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy. (22079131)
2012
13
The 3-layered ductal epithelium in gynecomastia. (22314184)
2012
14
Food allergy: from diagnosis to treatment. (22722444)
2012
15
Health related quality of life in ureteral stone patients: post-ureterolithiasis. (21461963)
2011
16
Blimp-1 protein and Hans classification on prognosis of diffuse large B-cell lymphoma and their interrelation. (20800019)
2010
17
A rare type of primary cutaneous amyloidosis: amyloidosis cutis dyschromica. (21091677)
2010
18
iNOS-derived nitric oxide mediates the increase in TFF2 expression associated with gastric damage: role of HIF-1. (19741170)
2010
19
PrPC, the cellular isoform of the human prion protein, is a novel biomarker of HIV-associated neurocognitive impairment and mediates neuroinflammation. (20724601)
2010
20
CYP3A4*16 and CYP3A4*18 alleles found in East Asians exhibit differential catalytic activities for seven CYP3A4 substrate drugs. (20847137)
2010
21
Prospective evaluation of fetuses with autoimmune-associated congenital heart block followed in the PR Interval and Dexamethasone Evaluation (PRIDE) Study. (19361597)
2009
22
Impression cytology: recent advances and applications in dry eye disease. (19383278)
2009
23
Mannose-binding lectin genotypes in susceptibility to community-acquired pneumonia. (18641104)
2008
24
Brainstem neuropathology in a mouse model of Niemann-Pick disease type C. (18190929)
2008
25
Left ventricular hypertrabeculation (noncompaction) with prominent calcifications in a patient with mannose-binding lectin deficiency and unclassified myopathy. (17868883)
2007
26
Real-time fluorescence quantitative PCR in detecting ribosome protein S13 (RPS13) gene expression in NK/T cell lymphoma]. (16761435)
2006
27
Protein kinase A regulates RNA polymerase III transcription through the nuclear localization of Maf1. (17005718)
2006
28
Recombinant nucleoprotein-based serological diagnosis of Crimean-Congo hemorrhagic fever virus infections. (15602720)
2005
29
Progress toward the genetic treatment of the beta-thalassemias. (16339654)
2005
30
Adiponectin and alcoholic fatty liver: Is it, after all, about what you eat? (16116627)
2005
31
S100A1 codistributes with synapsin I in discrete brain areas and inhibits the F-actin-bundling activity of synapsin I. (15147519)
2004
32
Racial disparity of epidermal growth factor receptor expression in prostate cancer. (15570072)
2004
33
Influences of apolipoprotein E polymorphism on the response of plasma lipids to the ad libitum consumption of a high-carbohydrate diet compared with a high-monounsaturated fatty acid diet. (14624406)
2003
34
Unopposed matrix metalloproteinase-9 expression in human tuberculous granuloma and the role of TNF-alpha-dependent monocyte networks. (14607966)
2003
35
Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13. (11484199)
2001
36
Prognostic significance of cyclooxygenase-2 in laryngeal squamous cell carcinoma. (11668514)
2001
37
Reduction of c-myc expression by an antisense approach under Cre/loxP switching induces apoptosis in human liver cancer cells. (11382922)
2001
38
Homocysteine and arterial occlusive disease: a concise review. (10371785)
1999
39
IkappaBalpha ubiquitination is catalyzed by an SCF-like complex containing Skp1, cullin-1, and two F-box/WD40-repeat proteins, betaTrCP1 and betaTrCP2. (10066435)
1999
40
Transcriptional up-regulation of paxillin expression by heregulin in human breast cancer cells. (10383144)
1999
41
Detection of anti-type VII collagen antibody in SjAPgren's syndrome/lupus erythematosus overlap syndrome with transient bullous systemic lupus erythematosus. (9767249)
1998
42
Insulin-stimulated chemokinesis in normal human neutrophils is dependent on D-glucose concentration and sensitive to inhibitors of tyrosine kinase and phosphatidylinositol 3-kinase. (9468278)
1998
43
Prostate cancer in the transition zone in sympatomatic patients with no rectal signs and negative peripheral zone biopsy]. (9675938)
1998
44
Regulation of histamine- and UTP-induced increases in Ins(1,4,5)P3, Ins (1,3,4,5)P4 and Ca2+ by cyclic AMP in DDT1 MF-2 cells. (7881738)
1995
45
Chlormadinone acetate withdrawal syndrome under combined androgen blockade for advanced prostate cancer. (7545251)
1995
46
A mutation of furin causes the lack of precursor-processing activity in human colon carcinoma LoVo cells. (7690548)
1993
47
Intrathoracic ganglioneuroma: case report. (8266754)
1993
48
Osteodysplastic variant of primordial dwarfism. (1897566)
1991
49
Kinetic analyses of creatine kinase release patterns in patients with acute myocardial infarction undergoing emergency coronary arteriography. (2232111)
1990
50
Cerebrovascular Disease (21250219)
1990

Variations for Aicardi Syndrome

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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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Sources for Aicardi Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet