DiseaseID 26020

脆性X染色体综合征

Fragile X Mental Retardation Syndrome

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Disease Id: 26020
Core Entity Id: 118588
Source Entity Count: 1
Preferred Name: Fragile X Mental Retardation Syndrome
Name Cn: 脆性X染色体综合征
Name Pinyin: Cui Xing X Ran Se Ti Zong He Zheng
Name En: Fragile X Mental Retardation Syndrome
Name Latin
Bilingual Status: complete
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Umls Disease Type
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Disease Definition: NCI2016_02D:A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.|MSH2017_2016_08_12:A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)|MEDLINEPLUS_20151021:Fragile X syndrome is the most common form of inherited <a href='https://www.nlm.nih.gov/medlineplus/developmentaldisabilities.html'>developmental disability</a>. 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 <ul> <li>Intelligence problems, ranging from learning disabilities to severe intellectual disabilities</li> <li>Social and emotional problems, such as aggression in boys or shyness in girls</li> <li>Speech and language problems, especially in boys</li> </ul> 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|JABL99:An inherited disease characterized by the presence of a fragile site in the long arm of chromosome X. It is a common cause of mental retardation, second only in frequency to the Down syndrome (trisomy 21). The expression varies with mental retardation, macroorchidism, high-pitched voice, narrow face, long jaw, large ears, prominent forehead, highly arched narrow palate, and joint laxity as the most common characteristics. Microcephaly, typical facies, shortness of stature, and absence of macroorchidism characterize the Renpenning but not Martin-Bell syndrome. Major characteristics of the Martin-Bell syndrome include: Mental retardation with speech and behavioral disorders; connective tissue dysplasia; square facies with midfacial hypoplasia; slightly below normal height without intra- uterine growth retardation; average or above average head circumference; large and frequently anteverted ears; prominent forehead and supraorbital ridges; large nose; prominent mandible which becomes apparent during adolescence; joint laxity; minor limb anomalies; dermatoglyphic abnormalities; and seizures.|CSP2006:X-linked recessive disorder characterized by mental retardation and large head, jaw, ears, and testes; premutation alleles in unaffected carriers give rise to significantly amplified repeats in affected progeny.
Version: v1
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Fragile X Mental Retardation Syndrome

Role

preferred

Source

SymMap_v2

Preferred

Yes

Cross References

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Umls

C0016667C2749127

Sym Map

SMDE01603

Attributes

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Version

Suppress

Disease Definition

NCI2016_02D:A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.|MSH2017_2016_08_12:A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)|MEDLINEPLUS_20151021:Fragile X syndrome is the most common form of inherited <a href='https://www.nlm.nih.gov/medlineplus/developmentaldisabilities.html'>developmental disability</a>. 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 <ul> <li>Intelligence problems, ranging from learning disabilities to severe intellectual disabilities</li> <li>Social and emotional problems, such as aggression in boys or shyness in girls</li> <li>Speech and language problems, especially in boys</li> </ul> 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|JABL99:An inherited disease characterized by the presence of a fragile site in the long arm of chromosome X. It is a common cause of mental retardation, second only in frequency to the Down syndrome (trisomy 21). The expression varies with mental retardation, macroorchidism, high-pitched voice, narrow face, long jaw, large ears, prominent forehead, highly arched narrow palate, and joint laxity as the most common characteristics. Microcephaly, typical facies, shortness of stature, and absence of macroorchidism characterize the Renpenning but not Martin-Bell syndrome. Major characteristics of the Martin-Bell syndrome include: Mental retardation with speech and behavioral disorders; connective tissue dysplasia; square facies with midfacial hypoplasia; slightly below normal height without intra- uterine growth retardation; average or above average head circumference; large and frequently anteverted ears; prominent forehead and supraorbital ridges; large nose; prominent mandible which becomes apparent during adolescence; joint laxity; minor limb anomalies; dermatoglyphic abnormalities; and seizures.|CSP2006:X-linked recessive disorder characterized by mental retardation and large head, jaw, ears, and testes; premutation alleles in unaffected carriers give rise to significantly amplified repeats in affected progeny.