MCID: ACR012
MIFTS: 46

Aicardi Syndrome malady

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

Aliases & Classifications for Aicardi Syndrome

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 42NINDS, 11DISEASES, 47Orphanet, 60UMLS, 33MeSH, 38NCIt, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Aicardi Syndrome, Aliases & Descriptions:

Name: Aicardi Syndrome 45 9 10 19 41 20 21 42 11 47
Corpus Callosum Agenesis of with Chorioretinal Abnormality 41 47
Aicardi's Syndrome 21 60
Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities 21
Corpus Callosum, Agenesis of, with Chorioretinal Abnormality 41
 
Agenesis of Corpus Callosum with Chorioretinal Abnormality 21
Callosal Agenesis and Ocular Abnormalities 21
Chorioretinal Anomalies with Acc 21
Aic 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
aicardi syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: any age


External Ids:

OMIM45 304050
Disease Ontology9 DOID:8461
MeSH33 D058540
NCIt38 C35256
Orphanet47 50
SNOMED-CT55 80651009
MESH via Orphanet34 D058540
ICD10 via Orphanet26 Q04.0
UMLS via Orphanet61 C0175713
ICD1025 H32, H30.9

Summaries for Aicardi Syndrome

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NINDS:42 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 corpus callosum agenesis of with chorioretinal abnormality, is related to choroiditis and chorioretinitis, and has symptoms including seizures, abnormality of neuronal migration and aplasia/hypoplasia of the corpus callosum. An important gene associated with Aicardi Syndrome is AIC (Aicardi syndrome). Affiliated tissues include eye, brain and retina.

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: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).

OMIM:45 Aicardi syndrome is characterized by a triad of callosal agenesis, infantile spasms, and chorioretinal lacunae... (304050) more...

Wikipedia:63 Not be confused with Aicardi-Gouti more...

GeneReviews summary for aic

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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Symptoms by clinical synopsis from OMIM:

304050

Clinical features from OMIM:

304050

Symptoms:

 47 (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 89)
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
39 cleft palate HP:0000175
40 cleft upper lip HP:0000204
41 microcephaly HP:0000252
42 facial asymmetry HP:0000324
43 anteverted nares HP:0000463
44 cataract HP:0000518
45 retinal detachment HP:0000541
46 microphthalmos HP:0000568
47 optic nerve coloboma HP:0000588
48 nystagmus HP:0000639
49 optic atrophy HP:0000648
50 precocious puberty HP:0000826
51 bifid ribs HP:0000892
52 rib fusion HP:0000902
53 missing ribs HP:0000921
54 hemangioma HP:0001028
55 chorioretinopathy HP:0001145
56 muscular hypotonia HP:0001252
57 pachygyria HP:0001302
58 dandy-walker malformation HP:0001305
59 partial agenesis of the corpus callosum HP:0001338
60 x-linked dominant inheritance HP:0001423
61 hiatus hernia HP:0002036
62 polymicrogyria HP:0002126
63 intellectual disability, profound HP:0002187
64 delayed cns myelination HP:0002188
65 choroid plexus cyst HP:0002190
66 heterotopia HP:0002282
67 arnold-chiari malformation HP:0002308
68 cavum septum pellucidum HP:0002389
69 spina bifida HP:0002414
70 scoliosis HP:0002650
71 hepatoblastoma HP:0002884
72 hemivertebrae HP:0002937
73 block vertebrae HP:0003305
74 butterfly vertebrae HP:0003316
75 sparse lateral eyebrow HP:0005338
76 supernumerary ribs HP:0005815
77 recurrent pneumonia HP:0006532
78 dilation of lateral ventricles HP:0006956
79 dilated third ventricle HP:0007082
80 chorioretinal lacunae HP:0007858
81 postnatal growth retardation HP:0008897
82 proximal placement of thumb HP:0009623
83 teratoma HP:0009792
84 skin tags HP:0010609
85 premaxillary prominence HP:0010759
86 epileptic spasms HP:0011097
87 lipoma HP:0012032
88 infantile spasms HP:0012469
89 metastatic angiosarcoma HP:0200059

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:

31
Eye, Brain, Retina, Skin, Cerebellum, Bone, 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 133)
idTitleAuthorsYear
1
Scoliosis in Children With Aicardi Syndrome. (25494028)
2014
2
Aicardi syndrome in a 47 XXY male - a variable developmental phenotype? (24657013)
2014
3
Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression? (23801936)
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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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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MSL complexGO:00724879.1MSL2, MSL3

Biological processes related to Aicardi Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1spindle assembly involved in mitosisGO:00903079.4OFD1, FLNA
2chromatin organizationGO:00063259.1MSL2, MSL3
3histone H4-K16 acetylationGO:00439848.8MSL2, MSL3

Molecular functions related to Aicardi Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Rac GTPase bindingGO:00483659.3CDKL5, FLNA

Products for genes affiliated with Aicardi Syndrome

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Sources for Aicardi Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet