Aicardi Syndrome (AIC) malady
Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases, Fetal diseases, Cancer diseases categories
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8Disease Ontology, 21Genetics Home Reference, 43NINDS, 65Wikipedia, 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 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
Aicardi Syndrome, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases, Cancer diseases
Anatomical: Eye diseases, Neuronal diseases
ICD10: 26 25
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):48
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy; Age of death: Any age
Clinical features from OMIM:304050
Symptoms:48 (show all 41)
HPO human phenotypes related to Aicardi Syndrome:(show all 38)
Genetic tests related to Aicardi Syndrome:
MalaCards organs/tissues related to Aicardi Syndrome:32
Eye, Brain, Retina, Skin, Cerebellum, Colon, Cortex, Pineal
Articles related to Aicardi Syndrome:(show top 50) (show all 130)
Search GEO for disease gene expression data for Aicardi Syndrome.
Cellular components related to Aicardi Syndrome according to GeneCards/GeneDecks:
Biological processes related to Aicardi Syndrome according to GeneCards/GeneDecks:
Molecular functions related to Aicardi Syndrome according to GeneCards/GeneDecks:
26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet