Fragile X Syndrome (FXS) malady

MedlinePlus:³⁴ 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: Fragile X Syndrome, also known as fraxa syndrome, is related to mental retardation and premature ovarian failure, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, frontal bossing/prominent forehead and cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy. An important gene associated with Fragile X Syndrome is FMR1 (fragile X mental retardation 1), and among its related pathways are GABA A receptor activation and SIDS Susceptibility Pathways. The compounds hydrofluoric acid and folate have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are endocrine/exocrine gland and integument.

NIH Rare Diseases:⁴³ 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.  fragile x syndrome is caused by a change in the fmr1 gene. fragile x syndrome is inherited in an x-linked dominant pattern. last updated: 6/23/2011

Genetics Home Reference:²¹ 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.

Wikipedia:⁶⁴ Fragile X syndrome (FXS), Martin–Bell syndrome, or Escalante\'s syndrome (more commonly used in South... more...

Description from OMIM:⁴⁷ 300624

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Disease Ontology8 DOID:14261 MeSH35 D005600, C531683 ICD9CM27 759.83 NCIt40 C84717 OMIM47 300624 SNOMED-CT57 390007001, 613003

MESH via Orphanet36 D005600 ICD10 via Orphanet26 Q99.2 SNOMED-CT via Orphanet58 254287005, 613003 UMLS via Orphanet62 C0016667, C0751156 UMLS61 C0016667

Clinical features from OMIM:

300624

Clinical synopsis from OMIM:

300624

Symptoms:

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macrocephaly/macrocrania/megalocephaly/megacephaly frontal bossing/prominent forehead cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy seizures/epilepsy/absences/spasms/status epilepticus intellectual deficit/mental/psychomotor retardation/learning disability speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia humour troubles/anxiety/depression/apathy/euphoria/irritability hypotonia auto-aggressivity/auto-mutilation chronic/relapsing otitis prognathism/prognathia macroorchidism/macrotestes flat foot gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia

nasal congestion/sinusitis/rhinitis/rhinorrhea hyperextensible joints/articular hyperlaxity strabismus/squint hyperactivity/attention deficit autism/autistic disoders prominent/bat ears psychosis/schizophrenia/maniac disorder x-linked dominant inheritance mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly narrow face aortic root dilatation/dilation/aneurysm long face fragile chromosome x site

Search GEO for disease gene expression data for Fragile X Syndrome.