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, 21Genetics Home Reference, 43NINDS, 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, 20GeneTests, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 48Orphanet, 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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Sources:
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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Sources:
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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Sources:
50PubMed
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Articles related to Aicardi Syndrome:

(show top 50)    (show all 240)
idTitleAuthorsYear
1
Therapies in Aicardi-GoutiA"res syndrome. (23607857)
2014
2
Aicardi-GoutiA"res syndrome: a model disease for systemic autoimmunity. (23786362)
2014
3
Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression? (23801936)
2013
4
Characterisation of Aicardi-GoutiA"res syndrome. (24183310)
2013
5
Bilateral striatal necrosis in two subjects with Aicardi-GoutiA"res syndrome due to mutations in ADAR1 (AGS6). (24376015)
2013
6
Elevation of proinflammatory cytokines in patients with Aicardi-GoutiA"res syndrome. (23408864)
2013
7
Dysregulation of the immune system in Aicardi-GoutiA"res syndrome: another example in a TREX1-mutated patient. (23918923)
2013
8
Aicardi-GoutiA"res syndrome with systemic lupus erythematosus and hypothyroidism. (22521435)
2013
9
Aicardi and Turner syndrome in a 45,X0/46,XX female. (22898088)
2013
10
Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-GoutiA"res syndrome. (22356656)
2012
11
Ophthalmologic findings in Aicardi syndrome. (22681940)
2012
12
Aicardi-GoutiA"res syndrome with emphasis on sonographic features in infancy. (22639057)
2012
13
Oral extragonadal yolk sac tumor in a patient with Aicardi syndrome: putative origin and differential diagnosis. (22225777)
2012
14
Chorioretinal architecture in Aicardi syndrome: an optical coherence tomography and fluorescein angiography study. (21777802)
2011
15
Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome. (21808053)
2011
16
Bilaterally independent epileptic spasms in a case of Aicardi syndrome. (21873145)
2011
17
The TREX1 exonuclease R114H mutation in Aicardi-GoutiA"res syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. (21937424)
2011
18
SAMHD1-deficient CD14+ cells from individuals with Aicardi-GoutiA"res syndrome are highly susceptible to HIV-1 infection. (22174685)
2011
19
Adult-onset dystonia in Aicardi-GoutiA"res syndrome. (20131390)
2010
20
Orbital ectopic brain tissue in Aicardi syndrome. (20818257)
2010
21
Cerebral arterial stenoses and stroke: novel features of Aicardi- Goutieres syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. (20842748)
2010
22
Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy. (19842196)
2009
23
Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome. (19107491)
2009
24
A male phenotype with Aicardi syndrome. (19182158)
2009
25
Is 47 XXY the genetic marker for Aicardi syndrome? (19955350)
2009
26
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. (19525956)
2009
27
New incidence, prevalence, and survival of Aicardi syndrome from 408 cases. (18182643)
2008
28
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. (16845398)
2006
29
Aicardi syndrome: chorioretinal lacunae without corpus callosum agenesis. (17031307)
2006
30
Aicardi syndrome: an unusual case associated with pineal gland cyst and ventricular septal defect. (17156705)
2006
31
The natural history of Aicardi-GoutiA"res syndrome: follow-up of 11 Italian patients. (15883328)
2005
32
Progressive pigmentation of chorioretinal lesions in aicardi syndrome. (15136335)
2004
33
Early treatment of Aicardi syndrome with vigabatrin can improve outcome. (15534281)
2004
34
Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG. (15365465)
2004
35
Brain lactic alkalosis in Aicardi-GoutiA"res syndrome. (15002048)
2004
36
Aicardi syndrome. (14568821)
2003
37
Aicardi-GoutiA"res syndrome: immunophenotyping in relation to interferon-alpha. (12365362)
2002
38
Aicardi syndrome with probable intraorbital cystic encephalocele. (11840253)
2002
39
The genetics of Aicardi-GoutiA"res syndrome. (12365359)
2002
40
Aicardi-GoutiA"res syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease? (10517253)
1999
41
A distinct difference in clinical expression of two siblings with Aicardi-GoutiA"res syndrome. (10222460)
1999
42
Aicardi-GoutiA"res syndrome: an expanding phenotype. (9706629)
1998
43
Brainstem lesion in Aicardi-GoutiA"res syndrome. (9744637)
1998
44
Evidence that skewed X inactivation is not needed for the phenotypic expression of Aicardi syndrome. (9272173)
1997
45
Aicardi syndrome: a morphologic description with particular reference to intracytoplasmic inclusions in cortical astrocytes. (9025834)
1996
46
Aicardi Syndrome (20301555)
1993
47
Aicardi syndrome: a longitudinal clinical and electroencephalographic study. (8330572)
1993
48
Aicardi syndrome: more than meets the eye. (8516753)
1993
49
The Aicardi syndrome in a 47, XXY male. (546395)
1979
50
The Aicardi syndrome. (4624502)
1972

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