AIC
MCID: ACR012
MIFTS: 47

Aicardi Syndrome (AIC)

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

Aliases & Classifications for Aicardi Syndrome

MalaCards integrated aliases for Aicardi Syndrome:

Name: Aicardi Syndrome 58 12 77 25 54 26 55 60 38 13 45 15
Aicardi's Syndrome 26 30 74
Corpus Callosum, Agenesis of, with Chorioretinal Abnormality 58 54
Agenesis of Corpus Callosum with Chorioretinal Abnormality 26 60
Aic 58 54
Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities 26
Callosal Agenesis and Ocular Abnormalities 26
Chorioretinal Anomalies with Acc 26

Characteristics:

Orphanet epidemiological data:

60
aicardi syndrome
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
x-linked dominant


HPO:

33
aicardi syndrome:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Aicardi Syndrome

NIH Rare Diseases : 54 Aicardi syndrome is a rare neurological disorder. The severity of the syndrome and the associated signs and symptoms vary from person to person. The three main features of Aicardi syndrome are:Complete or partial absence of the nerve tissue that allows the right and left sides of the brain to communicate (corpus callosum) Seizures beginning in infancy (infantile spasms), that may become hard to control (refractory epilepsy) Defects or holes in the light sensitive tissue at the back of the eye (retina) known as chorioretinal lacunae Other signs and symptoms may include:Developmental delay Intellectual disability that ranges from very mild to severe Characteristic facial features, such as a short distance between the nose and lips, a flat nose, large ears and thin eyebrows. Other brain malformations such as a very small head (microcephaly) Other eye defects, such as very small eyes (microphthalmia) or a defect of the nerve connecting the retina to the brain  (optic nerve) known as coloboma. The cause of Aicardi syndrome is currently unknown. Because the syndrome almost only affects females, it is believed to be caused by a change (mutation) in a gene located on the X-chromosome and inherited in a dominant X-linked manner. However, most cases are de novo, which means the genetic change happened by mistake during the making of the egg or the sperm and there are no other cases of the syndrome in the family. While there is no known cure for Aicardi syndrome, there are treatments that can help control symptoms.  Seizures may be treated with ketogenic diet and different types of anti-seizure medications. If medication does not control the seizures, a vagal nerve stimulator may be used or, in more severe cases, surgery may be considered. Other treatment may include physical therapy, speech therapy, and occupational therapy, as well as support for skeletal and muscle problems to prevent scoliosis related complication. Speech is usually very limited, while other abilities and disabilities vary greatly.  In cases of severe epilepsy and/or if there are serious brain or eye defects,  the intellectual disabilities tend to be more severe. The life span of girls with Aicardi syndrome usually averages between 8 and 18 years, but several women with milder symptoms have lived into their 30�??s and 40�??s. Very severe cases may not live beyond infancy.

MalaCards based summary : Aicardi Syndrome, also known as aicardi's syndrome, is related to west syndrome and aicardi-goutieres syndrome 1, and has symptoms including seizures An important gene associated with Aicardi Syndrome is AIC (Aicardi Syndrome). Affiliated tissues include brain, eye and retina, and related phenotypes are abnormality of retinal pigmentation and intellectual disability, severe

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 : 26 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 : 58 Aicardi syndrome is characterized by a triad of callosal agenesis, infantile spasms, and chorioretinal lacunae ('holes'). Flexion spasms in the infant represent the usual mode of clinical presentation (Aicardi, 1999). (304050)

NINDS : 55 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. Originally, Aicardi syndrome was characterized by three main features: 1) partial or complete absence of the structure (corpus callosum) that links the two halves of the brain (2) infantile spasms (a type of seizure disorder), and 3)chorioretinal lacunae, lesions on the retina that look like yellowish spots. However, Aicardi syndrome is now known to have a much broader spectrum of abnormalities than was initially described. Not all girls with the condition have the three features described above and many girls have additional feature such as lower tone around the head and trunk, microcephaly (small head circumference), and spasticity in the limbs. Typical findings in the brain of girls with Aicardi syndrome include heterotopias, which are groups of brain cells that, during development, migrated to the wrong area of brain; polymicrogyria or pachygyria, which are numerous small, or too few, brain folds; and cysts, (fluid filled cavities) in the brain. Girls with Aicardi syndrome have varying degrees of intellectual disability and developmental delay. Many girls also have developmental abnormalities of their optic nerves and some have microphthalmia (small eyes). Skeletal problems such as absent or abnormal ribs and abnormalities of vertebrae in the spinal column (including hemivertebrae and butterfly vertebrae) have also been reported. Some girls also have skin problems, facial asymmetry, small hands, and an increased incidence of tumors. (Aicardi syndrome is distinct from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.)

Wikipedia : 77 Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete... more...

GeneReviews: NBK1381

Related Diseases for Aicardi Syndrome

Diseases related to Aicardi Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 west syndrome 29.2 CDKL5 FLNA
2 aicardi-goutieres syndrome 1 11.5
3 corpus callosum, agenesis of 11.5
4 hepatoblastoma 11.4
5 pseudo-torch syndrome 1 11.2
6 aicardi-goutieres syndrome 11.2
7 cone-rod dystrophy and hearing loss 2 11.1
8 peho syndrome 11.0
9 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 11.0
10 encephalopathy 11.0
11 factor viii deficiency 10.2
12 hemophilia a 10.2
13 leukoencephalopathy, brain calcifications, and cysts 10.2
14 glucose intolerance 10.2
15 hemophilia 10.2
16 leukoencephalopathy, cerebral calcifications, and cysts 10.2
17 epilepsy 10.1
18 papilloma 10.1
19 cleft lip 10.1
20 47, xxy 10.1
21 papilloma of choroid plexus 10.1
22 holoprosencephaly 10.1
23 squamous cell papilloma 10.1
24 cleft lip/palate 10.1
25 autism 10.0
26 short stature, idiopathic, x-linked 10.0
27 microvascular complications of diabetes 1 10.0
28 microvascular complications of diabetes 2 10.0
29 microvascular complications of diabetes 5 10.0
30 background diabetic retinopathy 10.0
31 exudative vitreoretinopathy 1 10.0
32 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
33 pediatric angiosarcoma 10.0
34 microphthalmia 10.0
35 lipomatosis, multiple 9.8
36 medulloblastoma 9.8
37 retinoblastoma 9.8
38 persistent hyperplastic primary vitreous, autosomal recessive 9.8
39 pierre robin syndrome 9.8
40 hemangioma 9.8
41 hydrocephalus 9.8
42 sacrococcygeal teratoma 9.8
43 angiosarcoma 9.8
44 lissencephaly 9.8
45 scoliosis 9.8
46 persistent hyperplastic primary vitreous 9.8
47 pleomorphic lipoma 9.8
48 orbital cyst 9.8
49 ventricular septal defect 9.8
50 endodermal sinus tumor 9.8

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



Diseases related to Aicardi Syndrome

Symptoms & Phenotypes for Aicardi Syndrome

Human phenotypes related to Aicardi Syndrome:

60 33 (show top 50) (show all 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007703
2 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
3 severe global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011344
4 intellectual disability, moderate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002342
5 pachygyria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001302
6 partial agenesis of the corpus callosum 60 33 hallmark (90%) Very frequent (99-80%) HP:0001338
7 polymicrogyria 60 33 hallmark (90%) Very frequent (99-80%) HP:0002126
8 moderate global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011343
9 infantile spasms 60 33 hallmark (90%) Very frequent (99-80%) HP:0012469
10 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
11 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
12 eeg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0002353
13 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
14 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
15 hemiplegia/hemiparesis 60 33 frequent (33%) Frequent (79-30%) HP:0004374
16 protruding ear 60 33 frequent (33%) Frequent (79-30%) HP:0000411
17 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
18 aplasia/hypoplasia of the cerebellum 60 33 frequent (33%) Frequent (79-30%) HP:0007360
19 short philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000322
20 microphthalmia 60 33 frequent (33%) Frequent (79-30%) HP:0000568
21 bifid ribs 60 33 frequent (33%) Frequent (79-30%) HP:0000892
22 rib fusion 60 33 frequent (33%) Frequent (79-30%) HP:0000902
23 missing ribs 60 33 frequent (33%) Frequent (79-30%) HP:0000921
24 block vertebrae 60 33 frequent (33%) Frequent (79-30%) HP:0003305
25 butterfly vertebrae 60 33 frequent (33%) Frequent (79-30%) HP:0003316
26 sparse lateral eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0005338
27 supernumerary ribs 60 33 frequent (33%) Frequent (79-30%) HP:0005815
28 prominence of the premaxilla 33 frequent (33%) HP:0010759
29 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
30 precocious puberty 60 33 occasional (7.5%) Occasional (29-5%) HP:0000826
31 constipation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002019
32 hip dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001385
33 malabsorption 60 33 occasional (7.5%) Occasional (29-5%) HP:0002024
34 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
35 gastroesophageal reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0002020
36 feeding difficulties in infancy 60 33 occasional (7.5%) Occasional (29-5%) HP:0008872
37 delayed puberty 60 33 occasional (7.5%) Occasional (29-5%) HP:0000823
38 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
39 multiple lipomas 60 33 occasional (7.5%) Occasional (29-5%) HP:0001012
40 chorioretinal coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000567
41 small hand 60 33 occasional (7.5%) Occasional (29-5%) HP:0200055
42 retinal detachment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000541
43 abnormality of skin pigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001000
44 cleft upper lip 60 33 occasional (7.5%) Occasional (29-5%) HP:0000204
45 intestinal polyposis 60 33 occasional (7.5%) Occasional (29-5%) HP:0200008
46 optic nerve coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000588
47 plagiocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001357
48 hiatus hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002036
49 hepatoblastoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002884
50 cataract 33 HP:0000518

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
cataract
optic atrophy
microphthalmia
retinal detachment
more
Neurologic Central Nervous System:
seizures
pachygyria
infantile spasms
dandy-walker malformation
choroid plexus cyst
more
Head And Neck Head:
microcephaly

Growth Other:
postnatal growth retardation

Head And Neck Face:
facial asymmetry

Neoplasia:
hepatoblastoma
benign teratoma
embryonal carcinoma
metastatic angiosarcoma

Head And Neck Nose:
upturned nasal tip
decreased angle of nasal bridge

Abdomen Gastrointestinal:
hiatal hernia

Endocrine Features:
precocious puberty

Skeletal Spine:
scoliosis
spina bifida
hemivertebrae
block vertebrae
butterfly vertebrae

Head And Neck Mouth:
cleft palate
cleft lip
prominent premaxilla

Respiratory Lung:
recurrent pneumonia

Chest Ribs Sternum Clavicles And Scapulae:
bifid ribs
fused ribs
extra ribs
absent ribs

Skin Nails Hair Skin:
skin tags
multiple nevi
scalp lipoma
hypopigmented macules
hemangiomas

Skeletal Hands:
proximally placed thumbs

Skin Nails Hair Hair:
sparse lateral eyebrows

Clinical features from OMIM:

304050

UMLS symptoms related to Aicardi Syndrome:


seizures

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.65 CDKL5 FLNA
2 Decreased viability GR00221-A-1 9.65 CDKL5
3 Decreased viability GR00221-A-2 9.65 CDKL5
4 Decreased viability GR00221-A-3 9.65 CDKL5
5 Decreased viability GR00221-A-4 9.65 CDKL5
6 Decreased viability GR00342-S-1 9.65 CDKL5
7 Decreased viability GR00342-S-3 9.65 CDKL5
8 Decreased viability GR00402-S-2 9.65 CDKL5 FLNA
9 Increased cell migration GR00055-A-3 8.62 CDKL5 FLNA

Drugs & Therapeutics for Aicardi Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Selected X-Linked Disorders: Aicardi Syndrome Recruiting NCT00697411
2 Brain Development Research Program Recruiting NCT00305305

Search NIH Clinical Center for Aicardi Syndrome

Cochrane evidence based reviews: aicardi syndrome

Genetic Tests for Aicardi Syndrome

Genetic tests related to Aicardi Syndrome:

# Genetic test Affiliating Genes
1 Aicardi's Syndrome 30

Anatomical Context for Aicardi Syndrome

MalaCards organs/tissues related to Aicardi Syndrome:

42
Brain, Eye, Retina, Skin, Cerebellum, Pineal, Cortex

Publications for Aicardi Syndrome

Articles related to Aicardi Syndrome:

(show top 50) (show all 188)
# Title Authors Year
1
Triad of gloom in a girl child: Aicardi syndrome. ( 29323007 )
2018
2
Adenocarcinoma of Pigmented Ciliary Epithelium in a Child With Aicardi Syndrome and Congenital Microphthalmia With Cyst. ( 29342031 )
2018
3
High-dose Chemotherapy is Efficacious and Well Tolerated in a Toddler With Aicardi Syndrome and Malignant Sacrococcygeal Teratoma. ( 29420371 )
2018
4
Aicardi Syndrome. ( 30231182 )
2018
5
Aicardi syndrome in a 20-year-old female. ( 30238067 )
2018
6
Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination. ( 30536540 )
2018
7
Agenesis of the Corpus Callosum and Aicardi Syndrome: A Neuroimaging and Clinical Comparison. ( 28214165 )
2017
8
Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients. ( 28361097 )
2017
9
Aicardi syndrome and cognitive abilities: A report of five cases. ( 28641168 )
2017
10
Foetal Magnetic Resonance Images of Two Cases of Aicardi Syndrome. ( 28892993 )
2017
11
Exploring genome-wide DNA methylation patterns in Aicardi syndrome. ( 28967789 )
2017
12
A clinical study of Aicardi syndrome in Northern Ireland: the spectrum of ophthalmic findings. ( 27101753 )
2016
13
Aicardi syndrome: when to suspect the unexpected ( 27193831 )
2016
14
Late Presentation of Retinoblastoma in a Teen with Aicardi Syndrome. ( 27239462 )
2016
15
Iris cyst in a child with Aicardi syndrome: a novel association. ( 27320016 )
2016
16
Aicardi Syndrome. ( 27450814 )
2016
17
Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome. ( 27781033 )
2016
18
Aicardi syndrome: epilepsy surgery as a palliative treatment option for selected patients and pathological findings. ( 27818366 )
2016
19
Aicardi syndrome: an epidemiologic and clinical study in Norway. ( 25443581 )
2015
20
Scoliosis in Children With Aicardi Syndrome. ( 25494028 )
2015
21
A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome. ( 26091538 )
2015
22
Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature. ( 23948796 )
2014
23
Aicardi syndrome in a 47 XXY male - a variable developmental phenotype? ( 24657013 )
2014
24
Aicardi syndrome: Neonatal diagnosis by means of transfontanellar ultrasound. ( 25071893 )
2014
25
Nevoid hypertrichosis of the face in a 3-month-old girl with Aicardi syndrome. ( 23985081 )
2013
26
Serial fetal MRI for the diagnosis of Aicardi syndrome. ( 24007726 )
2013
27
Peripapillary chorioretinal lacunae in a girl with 3q21.3 to 3q22.1 microdeletion with features of Aicardi syndrome. ( 24052130 )
2013
28
Choroidal neovascularization and bevacizumab therapy in Aicardi syndrome. ( 22546998 )
2013
29
Aicardi syndrome in two Turkish children. ( 22750766 )
2013
30
Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression? ( 23801936 )
2013
31
Oral extragonadal yolk sac tumor in a patient with Aicardi syndrome: putative origin and differential diagnosis. ( 22225777 )
2012
32
Ophthalmologic findings in Aicardi syndrome. ( 22681940 )
2012
33
Aicardi syndrome. ( 22815034 )
2012
34
An unusual case of aicardi syndrome. ( 25390946 )
2012
35
Anesthetic management of a child with Aicardi syndrome undergoing laparoscopic Nissen's fundoplication: a case report. ( 21153034 )
2011
36
Chorioretinal architecture in Aicardi syndrome: an optical coherence tomography and fluorescein angiography study. ( 21777802 )
2011
37
Laterality of brain and ocular lesions in Aicardi syndrome. ( 21824560 )
2011
38
Bilaterally independent epileptic spasms in a case of Aicardi syndrome. ( 21873145 )
2011
39
Retinopathy of prematurity in an infant with Aicardi's syndrome. ( 21151036 )
2011
40
Increasing recognition of cases with male Aicardi syndrome. ( 20032521 )
2010
41
Novel presentation of Aicardi syndrome with agenesis of the corpus callosum and an orbital cyst. ( 20427798 )
2010
42
Diffusion tensor imaging of Aicardi syndrome. ( 20610117 )
2010
43
Orbital ectopic brain tissue in Aicardi syndrome. ( 20818257 )
2010
44
Aicardi syndrome: a case report. ( 21080756 )
2010
45
Chorioretinal lacunae: pathognomonic findings for Aicardi syndrome. ( 21214162 )
2010
46
Optic nerve aplasia in Aicardi syndrome. ( 21214165 )
2010
47
Aicardi syndrome in a 47, XXY male neonate with lissencephaly and holoprosencephaly. ( 19155022 )
2009
48
Aicardi syndrome mimicking intrauterine hydrocephalus. ( 19004586 )
2009
49
Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome. ( 19107491 )
2009
50
Non-random X chromosome inactivation in Aicardi syndrome. ( 19116729 )
2009

Variations for Aicardi Syndrome

Copy number variations for Aicardi Syndrome from CNVD:

7
# 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:

# 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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