AIC
MCID: ACR012
MIFTS: 51

Aicardi Syndrome (AIC) malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases, Fetal diseases, Cancer diseases categories
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Summaries for Aicardi Syndrome

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NINDS:43 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 chorioretinal anomalies with acc, is related to choroiditis and chorioretinitis, and has symptoms including retinitis pigmentosa/retinal pigmentary changes, agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect and corpus callosum/septum pellucidum total/partial agenesis. An important gene associated with Aicardi Syndrome is AIC (Aicardi syndrome). Affiliated tissues include eye, brain and retina.

Disease Ontology:8 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:21 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:65 Not be confused with Aicardi-Gouti more...

Description from OMIM:46 304050

GeneReviews summary for aic

Aliases & Classifications for Aicardi Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 57SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Aicardi Syndrome, Aliases & Descriptions:

Name: Aicardi Syndrome 8 9 19 42 20 21 43 46 10 48
Chorioretinal Anomalies with Acc 21 62
Aicardi's Syndrome 21 62
Aic 42 62
Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities 21
 
Corpus Callosum, Agenesis of, with Chorioretinal Abnormality 42
Agenesis of Corpus Callosum with Chorioretinal Abnormality 21
Corpus Callosum Agenesis of with Chorioretinal Abnormality 48
Callosal Agenesis and Ocular Abnormalities 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
aicardi syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy; Age of death: Any age


External Ids:

Disease Ontology8 DOID:8461
OMIM46 304050
NCIt39 C35256
MeSH34 D058540
SNOMED-CT57 80651009
MESH via Orphanet35 D058540
ICD10 via Orphanet26 Q04.0
UMLS via Orphanet63 C0175713
ICD1025 H32, H30.9

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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Clinical features from OMIM:

304050

Symptoms:

48 (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 38)
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 abnormal 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 ventriculomegaly typical (50%) HP:0002119
13 eeg abnormality typical (50%) HP:0002353
14 scoliosis typical (50%) HP:0002650
15 vertebral segmentation defect typical (50%) HP:0003422
16 hemiplegia/hemiparesis typical (50%) HP:0004374
17 sparse lateral eyebrow typical (50%) HP:0005338
18 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
19 aplasia/hypoplasia affecting the eye typical (50%) HP:0008056
20 malar prominence typical (50%) HP:0010620
21 abnormality of the genital system occasional (7.5%) HP:0000078
22 oral cleft occasional (7.5%) HP:0000202
23 retinal detachment occasional (7.5%) HP:0000541
24 chorioretinal coloboma occasional (7.5%) HP:0000567
25 optic nerve coloboma occasional (7.5%) HP:0000588
26 nystagmus occasional (7.5%) HP:0000639
27 optic atrophy occasional (7.5%) HP:0000648
28 precocious puberty occasional (7.5%) HP:0000826
29 abnormality of skin pigmentation occasional (7.5%) HP:0001000
30 multiple lipomas occasional (7.5%) HP:0001012
31 plagiocephaly occasional (7.5%) HP:0001357
32 constipation occasional (7.5%) HP:0002019
33 malabsorption occasional (7.5%) HP:0002024
34 hepatoblastoma occasional (7.5%) HP:0002884
35 abnormality of the hip bone occasional (7.5%) HP:0003272
36 short palm occasional (7.5%) HP:0004279
37 vascular neoplasm occasional (7.5%) HP:0100742
38 intestinal polyposis occasional (7.5%) HP:0200008

Drugs & Therapeutics for Aicardi Syndrome

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Drug clinical trials:

Search ClinicalTrials for Aicardi Syndrome

Search NIH Clinical Center for Aicardi Syndrome

Genetic Tests for Aicardi Syndrome

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Genetic tests related to Aicardi Syndrome:

id Genetic test Affiliating Genes
1 Aicardi Syndrome20

Anatomical Context for Aicardi Syndrome

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MalaCards organs/tissues related to Aicardi Syndrome:

32
Eye, Brain, Retina, Skin, Cerebellum, Colon, Cortex, 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 130)
idTitleAuthorsYear
1
Aicardi syndrome in a 47 XXY male - a variable developmental phenotype? (24657013)
2014
2
Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression? (23801936)
2013
3
Serial fetal MRI for the diagnosis of Aicardi syndrome. (24007726)
2013
4
Chorioretinal architecture in Aicardi syndrome: an optical coherence tomography and fluorescein angiography study. (21777802)
2011
5
Anesthetic management of a child with Aicardi syndrome undergoing laparoscopic Nissen's fundoplication: a case report. (21153034)
2011
6
Aicardi syndrome: a case report. (21080756)
2010
7
Orbital ectopic brain tissue in Aicardi syndrome. (20818257)
2010
8
Chorioretinal lacunae: pathognomonic findings for Aicardi syndrome. (21214162)
2010
9
Optic nerve aplasia in Aicardi syndrome. (21214165)
2010
10
Diffusion tensor imaging of Aicardi syndrome. (20610117)
2010
11
Novel presentation of Aicardi syndrome with agenesis of the corpus callosum and an orbital cyst. (20427798)
2010
12
Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy. (19842196)
2009
13
Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome. (19107491)
2009
14
A male phenotype with Aicardi syndrome. (19182158)
2009
15
Aicardi syndrome in a 47, XXY male neonate with lissencephaly and holoprosencephaly. (19155022)
2009
16
Aicardi syndrome mimicking intrauterine hydrocephalus. (19004586)
2009
17
Neuroimaging aspects of Aicardi syndrome. (18925666)
2008
18
Intractable reflex audiogenic seizures in Aicardi syndrome. (17084998)
2007
19
Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. (17621479)
2007
20
Anesthesia in a child with Aicardi syndrome. (17986050)
2007
21
Aicardi syndrome associated with anterior cephalocele in a female infant. (17518934)
2007
22
Aicardi syndrome with favorable outcome: case report and review. (17207597)
2007
23
Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002. (16967367)
2006
24
Progressive pigmentation of chorioretinal lesions in aicardi syndrome. (15136335)
2004
25
Early treatment of Aicardi syndrome with vigabatrin can improve outcome. (15534281)
2004
26
Presence of filamin in the astrocytic inclusions of Aicardi syndrome. (14738943)
2004
27
Aicardi syndrome with Pierre Robin sequence. (15088056)
2004
28
The full spectrum of persistent fetal vasculature in Aicardi syndrome: an integrated interpretation of ocular malformation. (10744380)
2000
29
Late observation of the GoutiA"res Aicardi syndrome. (9452350)
1998
30
Choroid plexus papilloma and cysts in the Aicardi syndrome: case reports. (9520082)
1997
31
Monozygotic twins discordant for Aicardi syndrome. (9279766)
1997
32
Aicardi syndrome with multiple tumors: a case report with literature review. (7503393)
1995
33
The association of cleft lip and palate with Aicardi syndrome. (8115518)
1994
34
Aicardi syndrome, metastatic angiosarcoma of the leg, and scalp lipoma. (8456830)
1993
35
Aicardi Syndrome (20301555)
1993
36
Aicardi syndrome: a longitudinal clinical and electroencephalographic study. (8330572)
1993
37
Aicardi syndrome: a variant example with new clinical findings. (8110415)
1993
38
Aicardi syndrome: more than meets the eye. (8516753)
1993
39
Aicardi syndrome accompanied by auditory disturbance and multiple brain tumors. (1667249)
1991
40
Aicardi syndrome. (1819576)
1991
41
Cleft lip and palate in Aicardi syndrome. (2260557)
1990
42
Multi-institutional survey of the Aicardi syndrome in Japan. (2092584)
1990
43
Aicardi syndrome associated with an embryonal carcinoma. (2653339)
1989
44
Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. (2773986)
1989
45
Aicardi syndrome--a case report. (2766069)
1989
46
Aicardi syndrome: postmortem findings. (2679585)
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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Expression patterns in normal tissues for genes affiliated with Aicardi Syndrome

Search GEO for disease gene expression data for Aicardi Syndrome.

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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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

Sources for Aicardi Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet