AIC
MCID: ACR012
MIFTS: 50

Aicardi Syndrome (AIC) malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases, Fetal diseases, Cancer diseases categories

Summaries for Aicardi Syndrome

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Sources:
9Disease Ontology, 22Genetics Home Reference, 45NINDS, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NINDS:45 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: Aicardi Syndrome, also known as aicardi's syndrome, is related to choroiditis and chorioretinitis, and has symptoms including cleft lip and palate, small hand/acromicria and retinal detachment. An important gene associated with Aicardi Syndrome is AIC (Aicardi syndrome). Affiliated tissues include brain, eye and skin.

Disease Ontology:9 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:22 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).

Wikipedia:66 Not be confused with Aicardi-Gouti more...

Description from OMIM:48 304050

GeneReviews summary for aic

Aliases & Classifications for Aicardi Syndrome

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9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 45NINDS, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 41NCIt, 36MeSH, 59SNOMED-CT, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

50
aicardi syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

aicardi syndrome 9 10 20 44 22 45 48 11 50
aicardi's syndrome 9 21 22 63
agenesis of corpus callosum with infantile spasms and ocular abnormalities 22
corpus callosum, agenesis of, with chorioretinal abnormality 44
agenesis of corpus callosum with chorioretinal abnormality 22
corpus callosum agenesis of with chorioretinal abnormality 50
callosal agenesis and ocular abnormalities 22
chorioretinal anomalies with acc 22
adenosine deaminase deficiency 63
aic 44


External Ids:

Disease Ontology9 DOID:8461
NCIt41 C35256
OMIM48 304050
MeSH36 D058540
MESH via Orphanet37 D058540
SNOMED-CT59 80651009
ICD10 via Orphanet27 Q04.0
SNOMED-CT via Orphanet60 80651009
UMLS via Orphanet64 C0175713
ICD1026 H32, H30.9

Related Diseases for Aicardi Syndrome

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Clinical features from OMIM:

304050

Symptoms:

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

Drugs & Therapeutics for Aicardi Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Aicardi Syndrome

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Genetic Tests for Aicardi Syndrome

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21GeneTests
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Genetic tests related to Aicardi Syndrome:

id Genetic test Affiliating Genes
1 Aicardi Syndrome21

Anatomical Context for Aicardi Syndrome

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34MalaCards
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MalaCards organs/tissues related to Aicardi Syndrome:

34
Brain, Eye, Skin, Colon, Cerebellum, Cortex, Pineal

Animal Models for Aicardi Syndrome or affiliated genes

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Publications for Aicardi Syndrome

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53PubMed
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Articles related to Aicardi Syndrome:

(show top 50)    (show all 125)
idTitleAuthorsYear
1
Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression? (23801936)
2013
2
Serial fetal MRI for the diagnosis of Aicardi syndrome. (24007726)
2013
3
Chorioretinal architecture in Aicardi syndrome: an optical coherence tomography and fluorescein angiography study. (21777802)
2011
4
Anesthetic management of a child with Aicardi syndrome undergoing laparoscopic Nissen's fundoplication: a case report. (21153034)
2011
5
Aicardi syndrome: a case report. (21080756)
2010
6
Orbital ectopic brain tissue in Aicardi syndrome. (20818257)
2010
7
Chorioretinal lacunae: pathognomonic findings for Aicardi syndrome. (21214162)
2010
8
Optic nerve aplasia in Aicardi syndrome. (21214165)
2010
9
Diffusion tensor imaging of Aicardi syndrome. (20610117)
2010
10
Novel presentation of Aicardi syndrome with agenesis of the corpus callosum and an orbital cyst. (20427798)
2010
11
Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy. (19842196)
2009
12
Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome. (19107491)
2009
13
A male phenotype with Aicardi syndrome. (19182158)
2009
14
Aicardi syndrome in a 47, XXY male neonate with lissencephaly and holoprosencephaly. (19155022)
2009
15
Aicardi syndrome mimicking intrauterine hydrocephalus. (19004586)
2009
16
Neuroimaging aspects of Aicardi syndrome. (18925666)
2008
17
Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. (17621479)
2007
18
Anesthesia in a child with Aicardi syndrome. (17986050)
2007
19
Aicardi syndrome associated with anterior cephalocele in a female infant. (17518934)
2007
20
Aicardi syndrome with favorable outcome: case report and review. (17207597)
2007
21
Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002. (16967367)
2006
22
Progressive pigmentation of chorioretinal lesions in aicardi syndrome. (15136335)
2004
23
Early treatment of Aicardi syndrome with vigabatrin can improve outcome. (15534281)
2004
24
Presence of filamin in the astrocytic inclusions of Aicardi syndrome. (14738943)
2004
25
Aicardi syndrome with Pierre Robin sequence. (15088056)
2004
26
The full spectrum of persistent fetal vasculature in Aicardi syndrome: an integrated interpretation of ocular malformation. (10744380)
2000
27
Aicardi syndrome associated with palatal hemangioma. (10584193)
1999
28
Late observation of the GoutiA"res Aicardi syndrome. (9452350)
1998
29
Choroid plexus papilloma and cysts in the Aicardi syndrome: case reports. (9520082)
1997
30
Monozygotic twins discordant for Aicardi syndrome. (9279766)
1997
31
Aicardi syndrome with multiple tumors: a case report with literature review. (7503393)
1995
32
The association of cleft lip and palate with Aicardi syndrome. (8115518)
1994
33
Aicardi syndrome, metastatic angiosarcoma of the leg, and scalp lipoma. (8456830)
1993
34
Aicardi Syndrome (20301555)
1993
35
Aicardi syndrome: a longitudinal clinical and electroencephalographic study. (8330572)
1993
36
Aicardi syndrome: a variant example with new clinical findings. (8110415)
1993
37
Aicardi syndrome: more than meets the eye. (8516753)
1993
38
Aicardi syndrome accompanied by auditory disturbance and multiple brain tumors. (1667249)
1991
39
Aicardi syndrome. (1819576)
1991
40
Cleft lip and palate in Aicardi syndrome. (2260557)
1990
41
Multi-institutional survey of the Aicardi syndrome in Japan. (2092584)
1990
42
Aicardi syndrome associated with an embryonal carcinoma. (2653339)
1989
43
Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. (2773986)
1989
44
Aicardi syndrome--a case report. (2766069)
1989
45
Aicardi syndrome: postmortem findings. (2679585)
1989
46
Aicardi syndrome in two sisters. (2754559)
1989
47
Aicardi syndrome with holoprosencephaly and cleft lip and palate. (3508052)
1987
48
A Golgi study of the polymicrogyric cortex in Aicardi syndrome. (3799920)
1986
49
The Aicardi syndrome in a 47, XXY male. (546395)
1979
50
The Aicardi syndrome: report of 4 cases and review of the literature. (111607)
1979

Variations for Aicardi Syndrome

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Expression for genes affiliated with Aicardi Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Aicardi Syndrome

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Pathways for genes affiliated with Aicardi Syndrome

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Compounds for genes affiliated with Aicardi Syndrome

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GO Terms for genes affiliated with Aicardi Syndrome

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17Gene Ontology
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Cellular components related to Aicardi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MSL complexGO:0724879.1MSL2, MSL3

Biological processes related to Aicardi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1spindle assembly involved in mitosisGO:0903079.4OFD1, FLNA
2chromatin organizationGO:0063259.1MSL2, MSL3
3histone H4-K16 acetylationGO:0439848.8MSL2, MSL3

Molecular functions related to Aicardi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Rac GTPase bindingGO:0483659.3CDKL5, FLNA

Products for genes affiliated with Aicardi Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Aicardi Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet