Fragile X Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Mental diseases
50OMIM, 11Disease Ontology, 69Wikipedia, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 36MedlinePlus, 2CDC, 37MeSH, 66UMLS, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Fragile X Syndrome:
Orphanet epidemiological data:52
fragile x syndrome:
Inheritance: X-linked dominant; Prevalence: 1-5/10000 (Worldwide),1-5/10000 (Europe),1-9/100000 (United States),1-9/100000 (France),1-5/10000 (Spain),1-5/10000 (Canada); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy
symptomatic form of fragile x syndrome in female carrier:
Inheritance: X-linked dominant; Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Mental diseases
ICD10: 29 28
Rare neurological diseases
Rare eye diseases
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
MedlinePlus:36 Fragile x syndrome is the most common form of inherited developmental disability. a problem with a specific gene causes the disease. normally, the gene makes a protein you need for brain development. but the problem causes a person to make little or none of the protein. this causes the symptoms of fragile x. people with only a small change in the gene might not show any signs of fragile x. people with bigger changes can have severe symptoms. these might include intelligence problems, ranging from learning disabilities to severe intellectual disabilities social and emotional problems, such as aggression in boys or shyness in girls speech and language problems, especially in boys a genetic blood test can diagnose fragile x. there is no cure. you can treat some symptoms with educational, behavioral, or physical therapy, and with medicines. getting treatment early can help. nih: national institute of child health and human development
MalaCards based summary: Fragile X Syndrome, also known as martin-bell syndrome, is related to epilepsy and fragile x syndrome type 1, and has symptoms including macroorchidism, otitis media and joint hypermobility. An important gene associated with Fragile X Syndrome is FMR1 (Fragile X Mental Retardation 1), and among its related pathways are GPCRs, Class C Metabotropic glutamate, pheromone and Hypothetical Network for Drug Addiction. Affiliated tissues include brain, testes and eye, and related mouse phenotypes are reproductive system and integument.
Disease Ontology:11 An x-linked disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has material basis in x-linked inheritance and a loss of fmr1 function.
NIH Rare Diseases:46 Fragile x syndrome is a genetic condition involving changes in part of the x chromosome. this condition causes a range of developmental problems including learning disabilities and cognitive impairment. it is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females. other signs and symptoms may include symptoms of autism spectrum disorders, seizures, and characteristic physical features. fragile x syndrome is caused by a change (mutation) in the fmr1 gene and is inherited in an x-linked dominant manner. there is no cure yet and treatment is based on the symptoms present in the person. early physical and education therapy is recommended. last updated: 5/12/2016
UniProtKB/Swiss-Prot:68 Fragile X syndrome: Common genetic disease (has a prevalence of one in every 2000 children) which is characterized by moderate to severe mental retardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region.
Genetics Home Reference:24 Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.
OMIM:50 Fragile X mental retardation is characterized by moderate to severe mental retardation, macroorchidism, and distinct... (300624) more...
Wikipedia:69 Fragile X syndrome (FXS), also known as Martin-Bell syndrome, or Escalante\'s syndrome (more commonly... more...
Symptoms by clinical synopsis from OMIM:300624
Clinical features from OMIM:300624
Symptoms:52 (show all 27)
HPO human phenotypes related to Fragile X Syndrome:(show all 43)
UMLS symptoms related to Fragile X Syndrome:seizures, joint laxity, head movements abnormal, agitation
Drugs for Fragile X Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 35)
Interventional clinical trials:(show top 50) (show all 64)
Search NIH Clinical Center for Fragile X Syndrome
MalaCards organs/tissues related to Fragile X Syndrome:34
Brain, Testes, Eye, Amygdala, Cortex, Prefrontal cortex, Temporal lobe
MGI Mouse Phenotypes related to Fragile X Syndrome:39
Articles related to Fragile X Syndrome:(show top 50) (show all 798)
UniProtKB/Swiss-Prot genetic disease variations for Fragile X Syndrome:68
Clinvar genetic disease variations for Fragile X Syndrome:5
Copy number variations for Fragile X Syndrome from CNVD:6
Search GEO for disease gene expression data for Fragile X Syndrome.
Pathways related to Fragile X Syndrome according to GeneCards Suite gene sharing:
Cellular components related to Fragile X Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Fragile X Syndrome according to GeneCards Suite gene sharing:(show all 7)
Molecular functions related to Fragile X Syndrome according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet