Fragile X Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Mental diseases
2CDC, 11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 36MedGen, 37MedlinePlus, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources
Aliases & Descriptions for Fragile X Syndrome:
Orphanet epidemiological data:53
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: 30 29
Rare neurological diseases
Rare eye diseases
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
MedlinePlus:37 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 RNA transport. Affiliated tissues include brain, testes and eye, and related mouse phenotypes are endocrine/exocrine gland and growth/size/body region.
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.
Genetics Home Reference:25 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.
NIH Rare Diseases:47 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
OMIM:51 Fragile X mental retardation is characterized by moderate to severe mental retardation, macroorchidism, and distinct... (300624) more...
UniProtKB/Swiss-Prot:69 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.
Wikipedia:70 Fragile X syndrome (FXS) is a genetic disorder. Symptoms often include mild to moderate intellectual... more...
Human phenotypes related to Fragile X Syndrome:63 53 (show all 41)
UMLS symptoms related to Fragile X Syndrome:head movements abnormal, joint laxity, seizures, agitation
Drugs for Fragile X Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 94)
Interventional clinical trials:(show top 50) (show all 68)
Search NIH Clinical Center for Fragile X Syndrome
MalaCards organs/tissues related to Fragile X Syndrome:35
Brain, Testes, Eye, Amygdala, Cortex, Prefrontal cortex, Temporal lobe
MGI Mouse Phenotypes related to Fragile X Syndrome:40
Articles related to Fragile X Syndrome:(show top 50) (show all 819)
UniProtKB/Swiss-Prot genetic disease variations for Fragile X Syndrome:69
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:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet