AIC
MCID: ACR012
MIFTS: 53

Aicardi Syndrome (AIC) malady

Eye diseases, Neuronal diseases, Fetal diseases, Cancer diseases categories

Summaries for Aicardi Syndrome

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8Disease Ontology, 43NINDS, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Aicardi Syndrome, also known as aicardi's syndrome, is related to adenosine deaminase deficiency and severe combined immunodeficiency, and has symptoms including polyposis of the bowel/colon/intestine, xanthomas/lipomas and abnormal pigmentary skin changes/skin pigmentation anomalies. An important gene associated with Aicardi Syndrome is AIC (Aicardi syndrome). Affiliated tissues include brain, eye 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:63 Not be confused with Aicardi-Goutières syndrome 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, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 48Orphanet, 20GeneTests, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Cancer diseases
Anatomical: Eye diseases, Neuronal diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

aicardi syndrome 8 9 19 42 21 43 46 10 48
aicardi's syndrome 8 20 21 60
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
chorioretinal anomalies with acc 21
adenosine deaminase deficiency 60
aic 42


External Ids:

Disease Ontology8 DOID:8461
OMIM46 304050
MeSH34 D058540
NCIt39 C35256
MESH via Orphanet35 D058540
SNOMED-CT56 80651009
ICD10 via Orphanet26 Q04.0
SNOMED-CT via Orphanet57 80651009
UMLS via Orphanet61 C0175713
ICD1025 H32, H30.9

Related Diseases for Aicardi Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Aicardi Syndrome:



Diseases related to aicardi syndrome

Clinical Features for Aicardi Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

304050

Symptoms:

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

Drugs & Therapeutics for Aicardi Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Aicardi Syndrome

Search NIH Clinical Center for Aicardi Syndrome

Search CenterWatch for Aicardi Syndrome

Genetic Tests for Aicardi Syndrome

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20GeneTests
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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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32MalaCards
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MalaCards organs/tissues related to Aicardi Syndrome:

32
Brain, Eye, Retina, Skin, Colon, Cerebellum, Pineal, Cortex

Animal Models for Aicardi Syndrome or affiliated genes

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Publications for Aicardi Syndrome

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50PubMed
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Articles related to Aicardi Syndrome:

(show top 50)    (show all 240)
idTitleAuthorsYear
1
Chronic exposure of astrocytes to interferon-I+ reveals molecular changes related to Aicardi-Goutieres syndrome. (23365100)
2013
2
Nuclease activity of the human SAMHD1 protein implicated in the Aicardi-Goutieres syndrome and HIV-1 restriction. (23364794)
2013
3
Aicardi-GoutiA"res syndrome: clues from the RNase H2 knock-out mouse. (23744109)
2013
4
Striking intrafamilial phenotypic variability in Aicardi-GoutiA"res syndrome associated with the recurrent Asian founder mutation in RNASEH2C. (23322642)
2013
5
Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature. (23948796)
2013
6
Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature. (23001123)
2012
7
Aicardi syndrome. (22815034)
2012
8
SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutiA"res syndrome-associated mutations. (22461318)
2012
9
Aicardi-Goutieres syndrome: from patients to genes and beyond. (22149989)
2012
10
Laterality of brain and ocular lesions in Aicardi syndrome. (21824560)
2011
11
Optic nerve aplasia in Aicardi syndrome. (21214165)
2010
12
Diffusion tensor imaging of Aicardi syndrome. (20610117)
2010
13
Reconciling neuroimaging and clinical findings in Aicardi-GoutiA"res syndrome: an autoimmune-mediated encephalopathy. (20581073)
2010
14
Intracerebral large artery disease in Aicardi-GoutiA"res syndrome implicates SAMHD1 in vascular homeostasis. (20653736)
2010
15
Aicardi syndrome in a 47, XXY male neonate with lissencephaly and holoprosencephaly. (19155022)
2009
16
RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases. (19034401)
2009
17
Blue (or purple) toes: chilblains or chilblain lupus-like lesions are a manifestation of Aicardi-GoutiA"res syndrome and familial chilblain lupus. (19751886)
2009
18
Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. (19116813)
2009
19
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up. (19628626)
2009
20
Aicardi-GoutiA"res syndrome presenting atypically as a sub-acute leukoencephalopathy. (18069026)
2008
21
Cutaneous histopathological findings of Aicardi-GoutiA"res syndrome, overlap with chilblain lupus. (18422690)
2008
22
Aicardi syndrome in monozygotic twins. (18484315)
2008
23
Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. (17621479)
2007
24
Anesthesia in a child with Aicardi syndrome. (17986050)
2007
25
Aicardi syndrome choroid plexus cysts. (17453044)
2007
26
Respiratory chain deficiency in Aicardi-GoutiA"res syndrome. (16836787)
2006
27
Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002. (16967367)
2006
28
Facial and physical features of Aicardi syndrome: infants to teenagers. (16158440)
2005
29
Prenatal diagnosis of Aicardi-GoutiA"res syndrome. (15662687)
2005
30
Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy? (15934491)
2005
31
Aicardi syndrome with Pierre Robin sequence. (15088056)
2004
32
Congenital glaucoma and brain stem atrophy as features of Aicardi-GoutiA"res syndrome. (15326633)
2004
33
An atypical case of Aicardi syndrome with favorable outcome. (15255242)
2004
34
Aicardi-GoutiA"res syndrome--observations of the Glasgow school. (12365363)
2002
35
Interferon and Aicardi-GoutiA"res syndrome. (12365361)
2002
36
Proceedings of the International Meeting on Aicardi-GoutiA"res Syndrome. Pavia, Italy, 28-29 May 2001. (12580145)
2002
37
The full spectrum of persistent fetal vasculature in Aicardi syndrome: an integrated interpretation of ocular malformation. (10744380)
2000
38
Aicardi syndrome associated with palatal hemangioma. (10584193)
1999
39
Late observation of the GoutiA"res Aicardi syndrome. (9452350)
1998
40
Choroid plexus papilloma and cysts in the Aicardi syndrome: case reports. (9520082)
1997
41
The Aicardi-GoutiA"res syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis). (8592332)
1995
42
Encephalopathy of infancy with intracerebral calcification and chronic spinal fluid lymphocytosis--another case of the Aicardi-GoutiA"res syndrome. (1641084)
1992
43
The Aicardi syndrome. (1802849)
1991
44
Cleft lip and palate in Aicardi syndrome. (2260557)
1990
45
Aicardi syndrome in two sisters. (2754559)
1989
46
Aicardi syndrome with holoprosencephaly and cleft lip and palate. (3508052)
1987
47
A Golgi study of the polymicrogyric cortex in Aicardi syndrome. (3799920)
1986
48
Aicardi syndrome, papilloma of the choroid plexus, cleft lip, and cleft of the posterior palate. (6707796)
1984
49
Aicardi syndrome. (7345702)
1981
50
The Aicardi syndrome. (4469620)
1974

Genetic Variations for Aicardi Syndrome

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Expression for genes affiliated with Aicardi Syndrome

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1BioGPS, 15Gene 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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16Gene Ontology
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Cellular components related to Aicardi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubule basal bodyGO:0059329.6CYS1, OFD1
2MSL complexGO:0724878.9MSL2, MSL3

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

idNameGO IDScoreTop Affiliating Genes
1spindle assembly involved in mitosisGO:0903079.7FLNA, OFD1
2histone H4-K16 acetylationGO:0439849.2MSL2, MSL3

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

idNameGO IDScoreTop Affiliating Genes
1Rac GTPase bindingGO:0483659.9CDKL5, FLNA

Products for genes affiliated with Aicardi Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet