AIC
MCID: ACR012
MIFTS: 47

Aicardi Syndrome (AIC) malady

Eye, Neuronal, Fetal, Cancer categories

Summaries for Aicardi Syndrome

Sources:
8Disease Ontology, 44NINDS, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NINDS:44 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 t lymphocyte deficiency, and has symptoms including corpus callosum/septum pellucidum total/partial agenesis, scoliosis and cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia. An important gene associated with Aicardi Syndrome is AIC (Aicardi syndrome). Affiliated tissues include skin, brain and cortex.

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:64 Not be confused with Aicardi-Goutières syndrome more...

Description from OMIM:47 304050

GeneReviews summary for aic

Aliases & Classifications for Aicardi Syndrome

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
aicardi syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

aicardi syndrome 8 9 19 43 21 44 47 10 49
aicardi's syndrome 8 20 21 61
agenesis of corpus callosum with infantile spasms and ocular abnormalities 21
corpus callosum, agenesis of, with chorioretinal abnormality 43
agenesis of corpus callosum with chorioretinal abnormality 21
corpus callosum agenesis of with chorioretinal abnormality 49
callosal agenesis and ocular abnormalities 21
chorioretinal anomalies with acc 21
adenosine deaminase deficiency 61
ada deficiency 19
aic 43


External Ids:

Disease Ontology8 DOID:8461
OMIM47 304050
MeSH35 D058540
NCIt40 C35256
MESH via Orphanet36 D058540
SNOMED-CT57 80651009
ICD10 via Orphanet26 Q04.0
SNOMED-CT via Orphanet58 80651009
UMLS via Orphanet62 C0175713
ICD1025 H32, H30.9

Related Diseases for Aicardi Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Aicardi Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1adenosine deaminase deficiency10.7
2t lymphocyte deficiency10.6
3n syndrome10.6
4purine nucleoside phosphorylase deficiency10.5
5hematopoietic stem cell transplantation10.4
6choroid plexus papilloma10.4
7apo a-i deficiency10.3
8delayed-/late-onset adenosine deaminase deficiency10.3
9cleft palate10.3
10holoprosencephaly10.2
11micro syndrome10.2
12corpus callosum agenesis10.2
13hemoglobin d disease10.2
14hepatitis c10.2
15autoimmune thyroiditis10.2
16chronic granulomatous disease10.2
17atopic dermatitis10.2
18dermatofibrosarcoma10.2
19common variable immunodeficiency10.2
20pulmonary alveolar proteinosis10.2
21omenn syndrome10.2
22bone lymphoma10.2
23duchenne muscular dystrophy10.2
24acute disseminated encephalomyelitis10.2
25hepatitis d10.2
26burkitt's lymphoma10.2
27cerebral lymphoma10.2
28protein c deficiency10.2
29hepatitis a10.2
30osteoporosis10.2
31thyroiditis10.2
32phosphorylase kinase deficiency10.2
33dermatofibrosarcoma protuberans10.2
34hypothyroidism, autoimmune10.2
35hepatitis c virus10.2
36inosine triphosphate pyrophosphohydrolase deficiency10.2
37arc syndrome10.2
38choroid plexus cyst10.2
39b cell deficiency10.1
40hemophilia10.0
41gout10.0
42dandy-walker syndrome10.0
43lissencephaly10.0
44microphthalmia10.0
45orbital cyst10.0
46large cell medulloblastoma10.0
47angiosarcoma10.0
48ventricular septal defect10.0
493-m syndrome10.0
50char syndrome10.0

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



Diseases related to aicardi syndrome

Clinical Features for Aicardi Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

304050

Symptoms:

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

Drugs & Therapeutics for Aicardi Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Aicardi Syndrome

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

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Aicardi Syndrome:

33
Skin, Brain, Cortex, Retina, Fetal brain, Pineal

Animal Models for Aicardi Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Aicardi Syndrome

Sources:
51PubMed
See all sources

Articles related to Aicardi Syndrome:

(show top 50)    (show all 243)
idTitleAuthorsYear
1
Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression? (23801936)
2013
2
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-GoutiA"res syndrome. (23592335)
2013
3
Assessment of interferon-related biomarkers in Aicardi-GoutiA"res syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. (24183309)
2013
4
Aicardi-GoutiA"res syndrome. (23622384)
2013
5
Inhibition of the de-myelinating properties of Aicardi-GoutiA"res syndrome lymphocytes by cathepsin D silencing. (23261460)
2013
6
Peripapillary chorioretinal lacunae in a girl with 3q21.3 to 3q22.1 microdeletion with features of Aicardi syndrome. (24052130)
2013
7
Choroidal neovascularization and bevacizumab therapy in Aicardi syndrome. (22546998)
2013
8
Nevoid hypertrichosis of the face in a 3-month-old girl with Aicardi syndrome. (23985081)
2013
9
Aicardi syndrome in two Turkish children. (22750766)
2013
10
Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature. (23948796)
2013
11
A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands. (22882256)
2012
12
SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutiA"res syndrome-associated mutations. (22461318)
2012
13
Aicardi-Goutieres syndrome: from patients to genes and beyond. (22149989)
2012
14
The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutieres syndrome defects. (21177858)
2011
15
Aicardi-Goutieres syndrome gene and HIV-1 restriction factor SAMHD1 is a dGTP-regulated deoxynucleotide triphosphohydrolase. (22069334)
2011
16
Reconciling neuroimaging and clinical findings in Aicardi-GoutiA"res syndrome: an autoimmune-mediated encephalopathy. (20581073)
2010
17
Aicardi syndrome in a 47, XXY male neonate with lissencephaly and holoprosencephaly. (19155022)
2009
18
Aicardi syndrome mimicking intrauterine hydrocephalus. (19004586)
2009
19
A genome-wide screen for copy number alterations in Aicardi syndrome. (19760649)
2009
20
Aicardi syndrome: the importance of an ophthalmologist in its diagnosis. (19384023)
2009
21
Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. (19116813)
2009
22
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up. (19628626)
2009
23
Aicardi-GoutiA"res syndrome: an important Mendelian mimic of congenital infection. (18422679)
2008
24
Aicardi-GoutiA"res syndrome presenting atypically as a sub-acute leukoencephalopathy. (18069026)
2008
25
Aicardi syndrome in a genotypic male. (19005990)
2008
26
Plasmacytoid dendritic cells and interferon-alpha in Aicardi-GoutiA"res syndrome. (18461501)
2007
27
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. (17846997)
2007
28
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi- Goutieres syndrome and mimic congenital viral brain infection. (16845400)
2006
29
Aicardi syndrome: a report of five Indian cases. (16679655)
2006
30
Phenotypic overlap between infantile systemic lupus erythematosus and Aicardi-GoutiA"res syndrome. (16429382)
2005
31
Aicardi-GoutiA"res syndrome. (15737701)
2005
32
Early treatment of Aicardi syndrome with vigabatrin can improve outcome. (15534281)
2004
33
Cree encephalitis is allelic with Aicardi-GoutiAcres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. (12624136)
2003
34
Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders? (12900577)
2002
35
Aicardi syndrome: spectrum of disease and long-term prognosis in 77 females. (12504201)
2002
36
Proceedings of the International Meeting on Aicardi-GoutiA"res Syndrome. Pavia, Italy, 28-29 May 2001. (12580145)
2002
37
Lack of progression of brain atrophy in Aicardi-GoutiA"res syndrome. (11377106)
2001
38
The full spectrum of persistent fetal vasculature in Aicardi syndrome: an integrated interpretation of ocular malformation. (10744380)
2000
39
Aicardi-GoutiA"res syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease? (10517253)
1999
40
Aicardi syndrome. (9640202)
1998
41
Choroid plexus papilloma and cysts in the Aicardi syndrome: case reports. (9520082)
1997
42
Aicardi syndrome--the elusive mild case. (8060941)
1994
43
Aicardi syndrome: natural history and possible predictors of severity. (7702692)
1994
44
Aicardi syndrome accompanied by auditory disturbance and multiple brain tumors. (1667249)
1991
45
Aicardi syndrome. (1819576)
1991
46
A rare case of Aicardi syndrome with severe brain malformation and hepatoblastoma. (3002200)
1985
47
Aicardi syndrome in one dizygotic twin. (4041031)
1985
48
Aicardi syndrome in a male infant. (7351599)
1980
49
The Aicardi syndrome in a 47, XXY male. (546395)
1979
50
Agenesis of the corpus callosum, chorioretinopathy and infantile spasms (Aicardi syndrome). (4699104)
1973

Genetic Variations for Aicardi Syndrome

Expression for genes affiliated with Aicardi Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Aicardi Syndrome

GO Terms for genes affiliated with Aicardi Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Aicardi Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet