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Fragile X Syndrome (CUI C0016667) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0016667

NCI Thesaurus Code: C84717  (see NCI Thesaurus info)

Semantic Type: Congenital Abnormality

Semantic Type: Disease or Syndrome

NCIt Definition: 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.

GARD Definition: 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. - this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

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

NICHD Definition: An X-linked dominant syndrome caused by expansion of the CGG triplets in the 5' promoter region of the FMR1 gene to over 200 copies. This expansion becomes hypermethylated, silencing the FMR1 gene expression, and subsequently completely inhibiting the expression of the fragile X mental retardation protein 1 (FMRP). The condition is characterized by a variety of developmental, emotional, behavioral, and physical symptoms, including learning disabilities and macroorchidism. Intermediate expansion of the CGG triplet (between 55 and 200 repeats) may be associated with a milder phenotype due to reduced expression of FMRP.

CSP Definition: 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.

MSH Definition: 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)

Synonyms & Abbreviations: (see Synonym Details)
Fra(X) syndrome
Fragile X Mental Retardation Syndrome
Fragile X syndrome (disorder)
Fragile X Syndrome [Disease/Finding]
Fragile X Syndromes
fragile X syndrome
FraX syndrome
FRAXA - Fragile X syndrome
FRAXA syndrome
FXS
Marker X Syndromes
Marker X syndrome
Martin Bell Syndrome
Martin-Bell syndrome
Mental Retardation, X-Linked, Associated With Marxq28
Syndrome, Fragile X
Syndrome, Marker X
Syndrome, Martin-Bell
Syndromes, Fragile X
Syndromes, Marker X
X Linked Mental Retardation and Macroorchidism
X-linked mental retardation and macroorchidism

External Source Codes: 
NCI Thesaurus Code C84717 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID X78FB SNOMEDCT_US
DATE_CREATED 01/06/2004 MEDLINEPLUS
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1254-8431 CSP
DISEASE_IDENTIFIER_ID 18624 GARD
DISEASE_IDENTIFIER_ID 18625 GARD
DISEASE_IDENTIFIER_ID 18626 GARD
DISEASE_IDENTIFIER_ID 18627 GARD
DISEASE_IDENTIFIER_ID 18628 GARD
DISEASE_IDENTIFIER_ID 18629 GARD
DISEASE_IDENTIFIER_ID 34445 GARD
DX 19910101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D002873 MSH
FX D008607 MSH
FX D019680 MSH
FX D043283 MSH
GENELOCUS ,X,q,2,7,.,3, OMIM
GENESYMBOL FMR1 OMIM
GENESYMBOL FRAXA OMIM
GENESYMBOL POF1 OMIM
HAS_GARD_PAGE true GARD
HN 91(83); was see under SEX CHROMOSOME ABNORMALITIES 1983-90 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19820422 MSH
MESH_DEFINITION 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) NDFRT
MESH_DUI D005600 NDFRT
MESH_NAME Fragile X Syndrome NDFRT
MESH_UI M0008811 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C10.597.606.643.455.500 MSH
MN C16.131.260.830.300 MSH
MN C16.320.180.830.300 MSH
MN C16.320.322.500.500 MSH
MN C16.320.400.525.500 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MOVED_FROM 229150 OMIM
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/fragilexsyndrome.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/fragilexsyndrome.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Child Health and Human Development http://www.nichd.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Fragile X Syndrome NCI
NUI N0000001290 NDFRT
PM 91; was see under SEX CHROMOSOME ABNORMALITIES 1983-90 MSH
PRIMARY_PATH 10017324$10040453$10008804$10010331$Fragile X syndrome$Sex chromosomal abnormalities$Chromosomal abnormalities and abnormal gene carriers$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6464/fragile-x-syndrome/resources/1 GARD
RXAUI 3161576 RXNORM
RXAUI 3161577 RXNORM
RXAUI 3196742 RXNORM
RXAUI 4222882 RXNORM
RXAUI 4223388 RXNORM
RXAUI 4224057 RXNORM
RXAUI 5039367 RXNORM
RXAUI 5039636 RXNORM
RXCUI 1022230 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 613003 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q99.2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q99.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q99.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q99.2 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X78FB SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T016969 MSH
TERMUI T369635 MSH
TERMUI T782125 MSH
TERMUI T782126 MSH
TERMUI T782127 MSH
TERMUI T811541 MSH
TERMUI T811542 MSH
TH GHR (2014) MSH
TH NLM (1983) MSH
TH NLM (2000) MSH
TH NLM (2012) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

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