MCID: ACR012
MIFTS: 48

Aicardi Syndrome

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

Aliases & Classifications for Aicardi Syndrome

MalaCards integrated aliases for Aicardi Syndrome:

Name: Aicardi Syndrome 57 12 76 24 53 25 59 37 13 44 15
Aicardi's Syndrome 25 29 73
Corpus Callosum, Agenesis of, with Chorioretinal Abnormality 57 53
Agenesis of Corpus Callosum with Chorioretinal Abnormality 25 59
Aic 57 53
Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities 25
Callosal Agenesis and Ocular Abnormalities 25
Chorioretinal Anomalies with Acc 25

Characteristics:

Orphanet epidemiological data:

59
aicardi syndrome
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
x-linked dominant


HPO:

32
aicardi syndrome:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Aicardi Syndrome

NIH Rare Diseases : 53 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 aicardi-goutieres syndrome 1 and corpus callosum, agenesis of, 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 nystagmus and precocious puberty

OMIM : 57 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 : 54 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.)

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).

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.

Wikipedia : 76 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 all 49)
# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 1 11.3
2 corpus callosum, agenesis of 11.3
3 hepatoblastoma 11.2
4 pseudo-torch syndrome 1 11.0
5 aicardi-goutieres syndrome 11.0
6 peho syndrome 10.8
7 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 10.8
8 encephalopathy 10.8
9 choroiditis 10.1
10 chorioretinitis 10.1
11 hemophilia a 10.1
12 hemophilia 10.1
13 papilloma 10.0
14 papilloma of choroid plexus 10.0
15 epilepsy 10.0
16 cleft lip 10.0
17 47, xxy 10.0
18 holoprosencephaly 9.9
19 cleft lip/palate 9.9
20 microphthalmia 9.8
21 infantile epileptic encephalopathy 9.8
22 medulloblastoma 9.7
23 retinoblastoma 9.7
24 persistent hyperplastic primary vitreous, autosomal recessive 9.7
25 pierre robin syndrome 9.7
26 hemangioma 9.7
27 hydrocephalus 9.7
28 sacrococcygeal teratoma 9.7
29 angiosarcoma 9.7
30 lissencephaly 9.7
31 scoliosis 9.7
32 arachnoiditis 9.7
33 orbital cyst 9.7
34 ventricular septal defect 9.7
35 endodermal sinus tumor 9.7
36 adenocarcinoma 9.7
37 teratoma 9.7
38 embryonal carcinoma 9.7
39 retinitis 9.7
40 large cell medulloblastoma 9.7
41 hypertrichosis 9.7
42 arachnoid cysts 9.7
43 choroid plexus cyst 9.7
44 dandy-walker complex 9.7
45 encephalocele 9.7
46 pulmonary sequestration 9.7
47 isolated pierre robin sequence 9.7
48 audiogenic seizures 9.7
49 autosomal recessive cerebellar ataxia 9.3 UBA5 UFM1

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



Diseases related to Aicardi Syndrome

Symptoms & Phenotypes for Aicardi Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
cataract
optic atrophy
microphthalmia
retinal detachment
more
Neurologic Central Nervous System:
seizures
pachygyria
infantile spasms
dandy-walker malformation
delayed myelination
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
hemangiomas
multiple nevi
scalp lipoma
hypopigmented macules

Skeletal Hands:
proximally placed thumbs

Skin Nails Hair Hair:
sparse lateral eyebrows


Clinical features from OMIM:

304050

Human phenotypes related to Aicardi Syndrome:

59 32 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
2 precocious puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000826
3 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
4 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
5 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
6 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
7 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
8 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
9 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
10 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
11 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
12 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
13 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
14 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
15 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
16 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
17 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
18 hemiplegia/hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0004374
19 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
20 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
21 multiple lipomas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001012
22 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
23 aplasia/hypoplasia of the cerebellum 59 32 frequent (33%) Frequent (79-30%) HP:0007360
24 chorioretinal coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000567
25 intellectual disability, moderate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002342
26 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
27 microphthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000568
28 small hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0200055
29 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000541
30 abnormality of skin pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001000
31 cleft upper lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0000204
32 intestinal polyposis 59 32 occasional (7.5%) Occasional (29-5%) HP:0200008
33 optic nerve coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000588
34 bifid ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000892
35 rib fusion 59 32 frequent (33%) Frequent (79-30%) HP:0000902
36 missing ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000921
37 pachygyria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001302
38 partial agenesis of the corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001338
39 plagiocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001357
40 hiatus hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002036
41 polymicrogyria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002126
42 hepatoblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002884
43 block vertebrae 59 32 frequent (33%) Frequent (79-30%) HP:0003305
44 butterfly vertebrae 59 32 frequent (33%) Frequent (79-30%) HP:0003316
45 sparse lateral eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0005338
46 supernumerary ribs 59 32 frequent (33%) Frequent (79-30%) HP:0005815
47 moderate global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011343
48 infantile spasms 59 32 hallmark (90%) Very frequent (99-80%) HP:0012469
49 cataract 32 HP:0000518
50 anteverted nares 32 HP:0000463

UMLS symptoms related to Aicardi Syndrome:


seizures

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 29

Anatomical Context for Aicardi Syndrome

MalaCards organs/tissues related to Aicardi Syndrome:

41
Brain, Eye, Retina, Skin, Cerebellum, Pineal, Cortex

Publications for Aicardi Syndrome

Articles related to Aicardi Syndrome:

(show top 50) (show all 150)
# Title Authors Year
1
Adenocarcinoma of Pigmented Ciliary Epithelium in a Child With Aicardi Syndrome and Congenital Microphthalmia With Cyst. ( 29342031 )
2018
2
Triad of gloom in a girl child: Aicardi syndrome. ( 29323007 )
2018
3
High-dose Chemotherapy is Efficacious and Well Tolerated in a Toddler With Aicardi Syndrome and Malignant Sacrococcygeal Teratoma. ( 29420371 )
2018
4
Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients. ( 28361097 )
2017
5
Exploring genome-wide DNA methylation patterns in Aicardi syndrome. ( 28967789 )
2017
6
Foetal Magnetic Resonance Images of Two Cases of Aicardi Syndrome. ( 28892993 )
2017
7
Aicardi syndrome and cognitive abilities: A report of five cases. ( 28641168 )
2017
8
Agenesis of the Corpus Callosum and Aicardi Syndrome: AA Neuroimaging and Clinical Comparison. ( 28214165 )
2017
9
A clinical study of Aicardi syndrome in Northern Ireland: the spectrum of ophthalmic findings. ( 27101753 )
2016
10
Aicardi Syndrome. ( 27450814 )
2016
11
Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome. ( 27781033 )
2016
12
Iris cyst in a child with Aicardi syndrome: a novel association. ( 27320016 )
2016
13
Late Presentation of Retinoblastoma in a Teen with Aicardi Syndrome. ( 27239462 )
2016
14
Aicardi syndrome: when to suspect the unexpected ( 27193831 )
2016
15
Aicardi syndrome: epilepsy surgery as a palliative treatment option for selected patients and pathological findings. ( 27818366 )
2016
16
A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome. ( 26091538 )
2015
17
Aicardi syndrome: an epidemiologic and clinical study in Norway. ( 25443581 )
2015
18
Aicardi syndrome in a 47 XXY male - a variable developmental phenotype? ( 24657013 )
2014
19
Scoliosis in Children With Aicardi Syndrome. ( 25494028 )
2014
20
Aicardi syndrome: Neonatal diagnosis by means of transfontanellar ultrasound. ( 25071893 )
2014
21
Serial fetal MRI for the diagnosis of Aicardi syndrome. ( 24007726 )
2013
22
Aicardi syndrome in two Turkish children. ( 22750766 )
2013
23
Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression? ( 23801936 )
2013
24
Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature. ( 23948796 )
2013
25
Nevoid hypertrichosis of the face in a 3-month-old girl with Aicardi syndrome. ( 23985081 )
2013
26
Peripapillary chorioretinal lacunae in a girl with 3q21.3 to 3q22.1 microdeletion with features of Aicardi syndrome. ( 24052130 )
2013
27
Choroidal neovascularization and bevacizumab therapy in Aicardi syndrome. ( 22546998 )
2013
28
Oral extragonadal yolk sac tumor in a patient with Aicardi syndrome: putative origin and differential diagnosis. ( 22225777 )
2012
29
Aicardi syndrome. ( 22815034 )
2012
30
Ophthalmologic findings in Aicardi syndrome. ( 22681940 )
2012
31
An unusual case of aicardi syndrome. ( 25390946 )
2012
32
Laterality of brain and ocular lesions in Aicardi syndrome. ( 21824560 )
2011
33
Chorioretinal architecture in Aicardi syndrome: an optical coherence tomography and fluorescein angiography study. ( 21777802 )
2011
34
Anesthetic management of a child with Aicardi syndrome undergoing laparoscopic Nissen's fundoplication: a case report. ( 21153034 )
2011
35
Bilaterally independent epileptic spasms in a case of Aicardi syndrome. ( 21873145 )
2011
36
Optic nerve aplasia in Aicardi syndrome. ( 21214165 )
2010
37
Increasing recognition of cases with male Aicardi syndrome. ( 20032521 )
2010
38
Novel presentation of Aicardi syndrome with agenesis of the corpus callosum and an orbital cyst. ( 20427798 )
2010
39
Aicardi syndrome: a case report. ( 21080756 )
2010
40
Chorioretinal lacunae: pathognomonic findings for Aicardi syndrome. ( 21214162 )
2010
41
Orbital ectopic brain tissue in Aicardi syndrome. ( 20818257 )
2010
42
Diffusion tensor imaging of Aicardi syndrome. ( 20610117 )
2010
43
Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome. ( 19107491 )
2009
44
A genome-wide screen for copy number alterations in Aicardi syndrome. ( 19760649 )
2009
45
Aicardi syndrome: the importance of an ophthalmologist in its diagnosis. ( 19384023 )
2009
46
Non-random X chromosome inactivation in Aicardi syndrome. ( 19116729 )
2009
47
Aicardi syndrome in a 47, XXY male neonate with lissencephaly and holoprosencephaly. ( 19155022 )
2009
48
Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration. ( 19610089 )
2009
49
A male phenotype with Aicardi syndrome. ( 19182158 )
2009
50
Aicardi syndrome in a male patient. ( 19639527 )
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

Biological processes related to Aicardi Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to endoplasmic reticulum stress GO:0034976 9.26 UBA5 UFM1
2 regulation of intracellular estrogen receptor signaling pathway GO:0033146 9.16 UBA5 UFM1
3 protein K69-linked ufmylation GO:1990592 8.96 UBA5 UFM1
4 protein ufmylation GO:0071569 8.62 UBA5 UFM1

Sources for Aicardi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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