Aicardi Syndrome malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases, Fetal diseases, Cancer diseases
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 46NINDS, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 65UMLS, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 61The Human Phenotype Ontology
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Aliases & Descriptions for Aicardi Syndrome:
Orphanet epidemiological data:51
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: any age
Inheritance: x-linked dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases, Cancer diseases
Anatomical: Eye diseases, Neuronal diseases
ICD10: 28 27
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis
NINDS:46 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 aicardi's syndrome, is related to hepatoblastoma and choroiditis, and has symptoms including cognitive impairment, abnormality of retinal pigmentation and aplasia/hypoplasia of the corpus callosum. An important gene associated with Aicardi Syndrome is AIC (Aicardi Syndrome). Affiliated tissues include brain, eye and retina, and related mouse phenotype nervous system.
Disease Ontology:10 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:23 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:49 Aicardi syndrome is characterized by a triad of callosal agenesis, infantile spasms, and chorioretinal lacunae... (304050) more...
Wikipedia:68 Not be confused with Aicardi-Goutières syndrome more...
GeneReviews summary for NBK1381
Symptoms by clinical synopsis from OMIM:304050
Clinical features from OMIM:304050
Symptoms:51 (show all 41)
HPO human phenotypes related to Aicardi Syndrome:(show all 86)
UMLS symptoms related to Aicardi Syndrome:hyperexplexia, seizures
Drugs for Aicardi Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 10)
Interventional clinical trials:
Search NIH Clinical Center for Aicardi Syndrome
Genetic tests related to Aicardi Syndrome:
MalaCards organs/tissues related to Aicardi Syndrome:33
Brain, Eye, Retina, Skin, Cerebellum, Bone, T cells
Articles related to Aicardi Syndrome:(show top 50) (show all 135)
Search GEO for disease gene expression data for Aicardi Syndrome.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet