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MCID: FRG001
MIFTS: 69

Fragile X Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Mental diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Fragile X Syndrome

About this section

MalaCards integrated aliases for Fragile X Syndrome:

Name: Fragile X Syndrome 57 12 76 53 25 59 75 37 29 13 55 6 43 3 44 15 73
Martin-Bell Syndrome 57 12 53 25 59 75
Fxs 57 53 25 59 75 3
X-Linked Mental Retardation and Macroorchidism 57 76 53 25 75
Marker X Syndrome 57 12 53 25 75
Fraxa Syndrome 53 25 59 55 73
Fraxe Syndrome 53 25 55 73
Fragile X Mental Retardation Syndrome 57 12 75
Mental Retardation, X-Linked, Associated with Marxq28 57 75
Fragile Xe Syndrome 53 25
Fra Syndrome 53 25
Fraxe 29 6
Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 25
X-Linked Mental Retardation Associated with Fragile Site Fraxe 53
Symptomatic Form of Fragile X Syndrome in Female Carrier 59
Mental Retardation, X-Linked, Fraxe Type 25
Mental Retardation, Fragile-X Syndrome 40
Fraxe Mental Retardation Syndrome 25
Fragile Site, Folic Acid Type 53
Fraxe Intellectual Disability 25
Fraxe Intellectual Deficit 25
Frax Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
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;

OMIM:

57
Miscellaneous:
incomplete penetrance
50% of females have learning disability or mild mental retardation
prevalence approximately 1 in 4,000 males
most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene
repeat is unstable if > 52 repeats
symptomatic if > 200 repeats
some boys with premutations (55 to 200 repeats) may show milder features, including autistic features

Inheritance:
x-linked dominant


HPO:

32
fragile x syndrome:
Onset and clinical course incomplete penetrance
Inheritance x-linked dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Reproductive diseases Endocrine diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Fragile X Syndrome

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MedlinePlus : 43 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 mental retardation, x-linked, associated with fragile site fraxe and fragile x tremor/ataxia syndrome, and has symptoms including seizures and agitation. An important gene associated with Fragile X Syndrome is FMR1 (Fragile X Mental Retardation 1), and among its related pathways/superpathways are RNA transport and Neuroscience. The drugs Riluzole and Lovastatin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are macrocephaly and frontal bossing

OMIM : 57 Fragile X syndrome is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw. In most cases, the disorder is caused by the unstable expansion of a CGG repeat in the FMR1 gene and abnormal methylation, which results in suppression of FMR1 transcription and decreased protein levels in the brain (Devys et al., 1993). (300624)

UniProtKB/Swiss-Prot : 75 Fragile X syndrome: A X-linked dominant disease 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 patients results from an amplification of a CGG repeat region in the FMR1 gene and abnormal methylation.

NIH Rare Diseases : 53 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 inheritedintellectual 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.

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.

Disease Ontology : 12 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.

Wikipedia : 76 Fragile X syndrome (FXS) is a genetic disorder. Symptoms often include mild to moderate intellectual... more...

Sources

Related Diseases for Fragile X Syndrome

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Diseases in the Fragile X Syndrome family:

Fragile X Syndrome Type 1 Fragile X Syndrome Type 2
Fragile X Syndrome Type 3

Diseases related to Fragile X Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, associated with fragile site fraxe 34.2 AFF2 SERPINA1
2 fragile x tremor/ataxia syndrome 33.5 FMR1 FMR1-AS1 LOC108684022
3 fragile x-associated tremor/ataxia syndrome 31.2 FMR1 GRM5 LOC108684022
4 autism spectrum disorder 30.8 BDNF FMR1 MECP2 SLC6A4
5 autism 30.7 BDNF CYFIP1 FMR1 GRM5 MECP2 SLC6A4
6 depression 30.2 BDNF GRIA1 GRM1 SLC6A4
7 attention deficit-hyperactivity disorder 29.8 BDNF FMR1 GRM5 MECP2 SLC6A4
8 fragile x syndrome type 1 12.0
9 fragile x syndrome type 2 12.0
10 fragile x syndrome type 3 12.0
11 factor x deficiency 11.4
12 premature ovarian failure 1 11.4
13 fmr1-related primary ovarian insufficiency 11.2
14 bone fracture 11.0
15 childhood apraxia of speech 10.9
16 down syndrome 10.3
17 x-linked disease 10.3 AFF2 FMR1 FXR1 FXR2 GRM5
18 aging 10.3
19 neuronitis 10.3
20 anxiety 10.2
21 epilepsy 10.2
22 tremor 10.2
23 pervasive developmental disorder 10.2 BDNF FMR1 GRM5 MECP2 SLC6A4
24 disease of mental health 10.1 BDNF FMR1 GRM5 MECP2 SLC6A4
25 alacrima, achalasia, and mental retardation syndrome 10.1
26 learning disability 10.0
27 fmr1-related disorders 10.0
28 williams-beuren syndrome 10.0
29 prader-willi syndrome 9.9
30 cystic fibrosis 9.9
31 spinal muscular atrophy 9.9
32 cerebritis 9.9
33 turner syndrome 9.9
34 muscular atrophy 9.9
35 myotonic dystrophy 9.9
36 myotonia atrophica 9.9
37 boutonneuse fever 9.8 AFF2 SERPINA1
38 neurofibromatosis, type i 9.8
39 neurofibromatosis, type iv, of riccardi 9.8
40 friedreich ataxia 1 9.8
41 cognitive function 1, social 9.8
42 tuberous sclerosis 9.8
43 muscular dystrophy 9.8
44 specific developmental disorder 9.7 AFF2 BDNF FMR1 FXR1 FXR2 MECP2
45 achondroplasia 9.7
46 alzheimer disease 9.7
47 angelman syndrome 9.7
48 autoimmune disease 9.7
49 cherubism 9.7
50 diabetes insipidus, nephrogenic, autosomal 9.7

Graphical network of the top 20 diseases related to Fragile X Syndrome:



Diseases related to Fragile X Syndrome
Sources

Symptoms & Phenotypes for Fragile X Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
seizures
abnormal head movements
mental retardation (moderate to severe in males)
periventricular heterotopia

Skeletal Feet:
pes planus

Skeletal Limbs:
joint laxity

Laboratory Abnormalities:
folate-dependent fragile site at xq28

Genitourinary External Genitalia Male:
macroorchidism, postpubertal
congenital macroorchidism (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal Spine:
scoliosis

Cardiovascular Heart:
mitral valve prolapse

Head And Neck Face:
long face
large forehead
coarse facies
prominent jaw

Neurologic Behavioral Psychiatric Manifestations:
poor eye contact
autistic features
hyperactive behavior

Head And Neck Ears:
large ears


Clinical features from OMIM:

300624

Human phenotypes related to Fragile X Syndrome:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
3 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
5 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
6 self-injurious behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0100716
7 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
8 chronic otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000389
9 macroorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000053
10 pes planus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001763
11 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
12 sinusitis 59 32 frequent (33%) Frequent (79-30%) HP:0000246
13 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
14 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
15 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
16 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
17 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
18 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
19 intellectual disability, moderate 59 32 frequent (33%) Very frequent (99-80%) HP:0002342
20 narrow face 59 32 frequent (33%) Frequent (79-30%) HP:0000275
21 mitral valve prolapse 59 32 occasional (7.5%) Occasional (29-5%) HP:0001634
22 joint laxity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001388
23 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
24 large forehead 59 32 frequent (33%) Frequent (79-30%) HP:0002003
25 folate-dependent fragile site at xq28 59 32 hallmark (90%) Very frequent (99-80%) HP:0003564
26 pectus excavatum 32 HP:0000767
27 scoliosis 32 HP:0002650
28 coarse facial features 32 HP:0000280
29 macrotia 32 HP:0000400
30 dilatation of the ascending aorta 59 Occasional (29-5%)
31 otitis media 59 Frequent (79-30%)
32 hyperactivity 32 HP:0000752
33 abnormal head movements 32 HP:0002457
34 periventricular gray matter heterotopia 32 HP:0007165
35 poor eye contact 32 HP:0000817
36 macroorchidism, postpubertal 32 HP:0002050
37 ascending tubular aorta aneurysm 32 occasional (7.5%) HP:0004970
38 congenital macroorchidism 32 HP:0008640

UMLS symptoms related to Fragile X Syndrome:


seizures, agitation

MGI Mouse Phenotypes related to Fragile X Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 BDNF CYFIP1 FMR1 FXR1 FXR2 GRIA1
2 integument MP:0010771 9.85 GRM1 GRM5 MAP1B MECP2 NR1H4 SLC6A4
3 nervous system MP:0003631 9.7 BDNF CYFIP1 FMR1 FXR2 GRIA1 GRM1
4 reproductive system MP:0005389 9.23 BDNF FMR1 FXR1 FXR2 GRM1 GRM5
Sources

Drugs & Therapeutics for Fragile X Syndrome

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Drugs for Fragile X Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 87)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
2
Lovastatin Approved, Investigational Phase 4,Phase 2 75330-75-5 53232
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
5
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
6 Anticonvulsants Phase 4
7 Excitatory Amino Acid Antagonists Phase 4
8 Excitatory Amino Acids Phase 4
9 Neuroprotective Agents Phase 4,Not Applicable
10 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
11 Protective Agents Phase 4,Phase 3,Phase 2,Not Applicable
12 Antipsychotic Agents Phase 4,Phase 2
13 Central Nervous System Depressants Phase 4,Phase 2
14 Neurotransmitter Uptake Inhibitors Phase 4,Phase 2
15 Psychotropic Drugs Phase 4,Phase 2
16 Serotonin Agents Phase 4,Phase 2
17 Tranquilizing Agents Phase 4,Phase 2
18 Anticholesteremic Agents Phase 4,Phase 2
19 Antimetabolites Phase 4,Phase 2
20 Dihydromevinolin Phase 4,Phase 2
21 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 2
22 Hypolipidemic Agents Phase 4,Phase 2
23 L 647318 Phase 4,Phase 2
24 Lipid Regulating Agents Phase 4,Phase 2
25 Central Nervous System Stimulants Phase 4
26 Dopamine Agents Phase 4
27 Dopamine Antagonists Phase 4
28 Dopamine Uptake Inhibitors Phase 4
29 Serotonin Antagonists Phase 4
30
Serotonin Investigational, Nutraceutical Phase 4,Phase 2 50-67-9 5202
31
Acamprosate Approved, Investigational Phase 3,Phase 2 77337-76-9 71158
32
Ethanol Approved Phase 3,Phase 2 64-17-5 702
33
Baclofen Approved Phase 3,Phase 2 1134-47-0 2284
34
Tocopherol Approved, Investigational, Nutraceutical Phase 3,Phase 2 1406-66-2 14986
35
Vitamin C Approved, Nutraceutical Phase 3,Phase 2 50-81-7 5785 54670067
36
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-02-9 14985
37 Antioxidants Phase 3,Phase 2,Not Applicable
38 Micronutrients Phase 3,Phase 2
39 Pharmaceutical Solutions Phase 3,Phase 2
40 Tocopherols Phase 3,Phase 2
41 Tocotrienols Phase 3,Phase 2
42 Trace Elements Phase 3,Phase 2
43 Vitamins Phase 3,Phase 2
44 Tocotrienol Investigational, Nutraceutical Phase 3,Phase 2 6829-55-6
45
Sertraline Approved Phase 2 79617-96-2 68617
46
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
47
Aripiprazole Approved, Investigational Phase 2 129722-12-9 60795
48
Donepezil Approved Phase 2,Phase 1 120014-06-4 3152
49
Minocycline Approved, Investigational Phase 2,Not Applicable 10118-90-8 5281021
50
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037

Interventional clinical trials:

(show top 50) (show all 71)
# Name Status NCT ID Phase Drugs
1 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4 Riluzole
2 Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome Recruiting NCT02642653 Phase 4 Lovastatin
3 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
4 Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome Completed NCT01282268 Phase 3 arbaclofen;placebo
5 Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 3 Acamprosate
6 Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome Completed NCT01325220 Phase 3 arbaclofen;arbaclofen;arbaclofen;Placebo
7 Study of Acamprosate in Fragile x Syndrome Recruiting NCT01911455 Phase 2, Phase 3 acamprosate;Placebo
8 Clinical Trial for Asses the Safety and Efficacy of Vitamin C and Vitamin E in Combination Versus Placebo for Treating Cognitive and Behavior Disorder in Children With Fragile X Syndrome Recruiting NCT02942498 Phase 3 Vitamin C 10mg/Kg Vitamin E 10 mg/Kg;Placebo
9 A Trial of Metformin in Individuals With Fragile X Syndrome Recruiting NCT03479476 Phase 2, Phase 3 Placebo Medication;Metformin
10 Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label) Terminated NCT01433354 Phase 2, Phase 3 AFQ056
11 An Open Label Extension Study in Subjects With Fragile X Syndrome Terminated NCT01555333 Phase 3 arbaclofen
12 Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome Completed NCT01253629 Phase 2 AFQ056;Placebo
13 Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome Completed NCT01357239 Phase 2 AFQ056;Placebo
14 A 6-week, Study of MG01CI Low Dose and High Dose Compared With Placebo in Adults and Adolescents With Fragile X Syndrome Completed NCT02126995 Phase 2 MG01CI extended-release tablet
15 A Safety Study of NNZ-2566 in Patients With Fragile X Syndrome Completed NCT01894958 Phase 2 NNZ-2566;Placebo
16 Trial of Sertraline to Treat Children With Fragile X Syndrome Completed NCT01474746 Phase 2 Sertraline;Placebo
17 Ganaxolone Treatment in Children With Fragile X Syndrome Completed NCT01725152 Phase 2 Ganaxolone;Placebo
18 Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X Syndrome Completed NCT00788073 Phase 2 STX209;Placebo
19 Safety and Efficacy Study of Antioxidants for the Treatment of the Fragile X Syndrome Completed NCT01329770 Phase 2
20 A Study of RO4917523 in Pediatric Patients With Fragile X Syndrome Completed NCT01750957 Phase 2 Placebo;RO4917523;RO4917523
21 Double-blind Placebo Controlled Study of Oxytocin in Fragile X Syndrome Completed NCT01254045 Phase 2 placebo;oxytocin 24IU;oxytocin 48IU
22 A Study of RO4917523 in Patients With Fragile X Syndrome Completed NCT01517698 Phase 2 Placebo;RO4917523 0.5 mg;RO4917523 1.5 mg
23 A Prospective Open-label Study of Aripiprazole in Fragile X Syndrome Completed NCT00420459 Phase 2 Aripiprazole
24 Randomized Controlled Study of Donepezil in Fragile X Syndrome Completed NCT01120626 Phase 2 donepezil;sugar pill
25 A Study With RO4917523 in Patients With Fragile X Syndrome Completed NCT01015430 Phase 2 Placebo (for RO4917523 ascending doses);Placebo (for RO4917523 fixed dose);RO4917523;RO4917523
26 Effects of CX516 on Functioning in Fragile X Syndrome and Autism Completed NCT00054730 Phase 2 CX516 (Ampalex®)
27 Open Label Study Investigating Safety and Efficacy of NPL2009 50 mg - 150 mg on Prepulse Inhibition Tests and Continuous Performance Tasks, Adults With Fragile X Syndrome Completed NCT00637221 Phase 1, Phase 2 NPL-2009
28 Efficacy, Safety and Tolerability of AFQ056 in Fragile X Patients Completed NCT00718341 Phase 2 AF056;Placebo
29 Citocoline for Treatment of FXTAS Completed NCT02197104 Phase 2 citocoline
30 A 2-Period Crossover Study of BPN14770 in Adults Males With Fragile X Syndrome Recruiting NCT03569631 Phase 2 BPN14770;Placebo
31 Combined Treatment of Minocycline and Lovastatin to Treat Individuals With Fragile X Syndrome Recruiting NCT02680379 Phase 2 Minocycline, then Minocycline/Lovastatin;Lovastatin, then Minocycline/Lovastatin
32 Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome Recruiting NCT02616796 Phase 1, Phase 2
33 AFQ056 for Language Learning in Children With FXS Recruiting NCT02920892 Phase 2 AFQ056
34 Single-Dose Acamprosate, Lovastatin, Minocycline and Placebo in Fragile X Syndrome Enrolling by invitation NCT02998151 Phase 2 Acamprosate;Lovastatin;Minocycline;Placebo
35 Treatment of Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) With Allopregnanolone Enrolling by invitation NCT02603926 Phase 2 Allopregnanolone
36 A Study to Assess the Tolerability of a Single Dose of STX107 in Adults With Fragile X Syndrome Suspended NCT01325740 Phase 2 STX107
37 An Open Label Extension Study of STX209 in Subjects With Fragile X Syndrome Terminated NCT01013480 Phase 2 Arbaclofen
38 Long-term, Safety, Tolerability and Efficacy Study of AFQ056 in Adult Patients With Fragile X Syndrome Terminated NCT01348087 Phase 2 AFQ056
39 Clinical Study to Assess the Pharmacokinetics, Safety and Tolerability of Single and Multiple Oral Doses of AFQ056 in Children With Fragile X Syndrome (FXS) Completed NCT01482143 Phase 1 AFQ056
40 An Open-Label Trial of Donepezil in Fragile X Syndrome Completed NCT00220584 Phase 1 donepezil
41 Single Dose Pharmacokinetic (PK) Study Completed NCT03109756 Phase 1 OV101
42 A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107 Completed NCT00965432 Phase 1 STX107
43 A PET Brain Imaging Study of mGluR5 in Subjects With Neuropsychiatric Conditions Completed NCT00870974 Phase 1 [18F]FPEB
44 An Initial Study of AZD7325 in Adults With Fragile X Syndrome Recruiting NCT03140813 Phase 1 AZD7325 (High-Dose);AZD7325 (Low-Dose);Placebo oral capsule
45 Glutaminergic Transmission in Autism : Molecular Imaging Exploration Recruiting NCT02719951 Phase 1 [18F]FPEB PET imaging
46 Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts Active, not recruiting NCT02567357 Phase 1
47 Teaching Math Skills to Individuals With Fragile X Syndrome Unknown status NCT01204151 Not Applicable
48 Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay Unknown status NCT01616589
49 Aromatase Activity and Ovarian Growth Factors in African-American Versus Caucasian Women Unknown status NCT00334971 Not Applicable
50 Decisional Capacity and Informed Consent in Fragile X Syndrome Completed NCT02465931 Not Applicable

Search NIH Clinical Center for Fragile X Syndrome

Cochrane evidence based reviews: fragile x syndrome

Sources

Genetic Tests for Fragile X Syndrome

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Genetic tests related to Fragile X Syndrome:

# Genetic test Affiliating Genes
1 Fragile X Syndrome 29 FMR1
2 Fraxe 29 AFF2
Sources

Anatomical Context for Fragile X Syndrome

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MalaCards organs/tissues related to Fragile X Syndrome:

41
Brain, Testes, Eye, Amygdala, Cortex, Prefrontal Cortex, Temporal Lobe
Sources

Publications for Fragile X Syndrome

About this section

Articles related to Fragile X Syndrome:

(show top 50) (show all 1040)
# Title Authors Year
1
Fragile X syndrome and fragile X-associated tremor ataxia syndrome. ( 29325626 )
2018
2
A comparison of functional academic and daily living skills in males with fragile X syndrome with and without autism. ( 29730505 )
2018
3
Risperidone Treatment for Irritability in Fragile X Syndrome. ( 29394101 )
2018
4
Genetic cluster of fragile X syndrome in a Colombian district. ( 29379191 )
2018
5
Modelling fragile X syndrome in the laboratory setting: A behavioral perspective. ( 29704597 )
2018
6
Health Profiles of Mosaic Versus Non-mosaic <i>FMR1</i> Premutation Carrier Mothers of Children With Fragile X Syndrome. ( 29868121 )
2018
7
Impaired hippocampal representation of place in the Fmr1-knockout mouse model of fragile X syndrome. ( 29892074 )
2018
8
Dysregulation and restoration of homeostatic network plasticity in fragile X syndrome mice. ( 29890190 )
2018
9
CORRIGENDUM: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. ( 29388943 )
2018
10
Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction. ( 29880767 )
2018
11
Translating molecular advances in Down syndrome and Fragile X syndrome into therapies. ( 29887288 )
2018
12
Acamprosate rescues neuronal defects in the Drosophila model of Fragile X Syndrome. ( 29317220 )
2018
13
Haplotype Analysis of DXS548 and FRAXAC1 Microsatellite Loci in Iranian Patients with Fragile X Syndrome. ( 29379561 )
2018
14
Fragile X syndrome with mosaic size mutation in a Bantu patient from Central Africa. ( 29319541 )
2018
15
Gaze avoidance and perseverative language in fragile X syndrome and autism spectrum disorder: brief report. ( 29333915 )
2018
16
Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR. ( 29844802 )
2018
17
Making a (cautious) case for expanding reproductive genetic carrier screens: Australian researchers report success, and caveats, with a simultaneous panel of cystic fibrosis, fragile X syndrome, and spinal muscular atrophy. ( 29446568 )
2018
18
Early Vocal Development in Autism Spectrum Disorder, Rett Syndrome, and Fragile X Syndrome: Insights from Studies using Retrospective Video Analysis. ( 29774230 )
2018
19
Functional changes of AMPA responses in human induced pluripotent stem cell-derived neural progenitors in fragile X syndrome. ( 29339535 )
2018
20
Overactivity, impulsivity and repetitive behaviour in males with fragile X syndrome: contrasting developmental trajectories in those with and without elevated autism symptoms. ( 29722449 )
2018
21
Fragile X syndrome: An overview and update of the FMR1 gene. ( 28617938 )
2018
22
Evaluating Sensory Processing in Fragile X Syndrome: Psychometric Analysis of the Brain Body Center Sensory Scales (BBCSS). ( 29417435 )
2018
23
Developmental trajectories of executive functions in young males with fragile X syndrome. ( 29936017 )
2018
24
Imbalance of synaptic actin dynamics as a key to the Fragile X syndrome? ( 29380377 )
2018
25
Impaired spatial processing in a mouse model of fragile X syndrome. ( 29778627 )
2018
26
Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach. ( 29378522 )
2018
27
Abnormal Sleep Architecture and Hippocampal Circuit Dysfunction in a Mouse Model of Fragile X Syndrome. ( 29775702 )
2018
28
Examining the influence of social-environmental variables on self-injurious behaviour in adolescent boys with fragile X syndrome. ( 29693293 )
2018
29
Adaptive behavior in infants and toddlers with Down syndrome and fragile X syndrome. ( 29399949 )
2018
30
Reducing histone acetylation rescues cognitive deficits in a mouse model of Fragile X syndrome. ( 29950602 )
2018
31
Alterations in CA1 hippocampal synapses in a mouse model of fragile X syndrome. ( 29274095 )
2018
32
Early gesture use in fragile X syndrome. ( 29781139 )
2018
33
Normal CA1 Place Fields but Discoordinated Network Discharge in a Fmr1-Null Mouse Model of Fragile X Syndrome. ( 29358017 )
2018
34
Paradoxical effect of baclofen on social behavior in the fragile X syndrome mouse model. ( 29785777 )
2018
35
Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome. ( 29925305 )
2018
36
Modeling Fragile X Syndrome in <i>Drosophila</i>. ( 29713264 )
2018
37
Experiential contributions to social dominance in a rat model of fragile-X syndrome. ( 29899064 )
2018
38
Metformin as Targeted Treatment in Fragile X Syndrome. ( 28436599 )
2017
39
ESCRT-III Membrane Trafficking Misregulation Contributes To Fragile X Syndrome Synaptic Defects. ( 28819289 )
2017
40
Noncomprehension Signaling in Males and Females With Fragile X Syndrome. ( 28586922 )
2017
41
Behavioral effects of chronic stress in the Fmr1 mouse model for fragile X syndrome. ( 27939692 )
2017
42
Fragile X Syndrome: Lessons Learned from the Most Translated Neurodevelopmental Disorder in Clinical Trials. ( 28400977 )
2017
43
Behavioral Markers of Emergent Stranger Anxiety in Infants and Toddlers with Fragile X Syndrome. ( 28856552 )
2017
44
Fragile X Syndrome: A Rare Case Report with Unusual Oral Features. ( 29326522 )
2017
45
Melatonin as a Novel Interventional Candidate for Fragile X Syndrome with Autism Spectrum Disorder in Humans. ( 28632163 )
2017
46
Beneficial effect of interventional exercise on autistic Fragile X syndrome. ( 28533625 )
2017
47
Challenges in prenatal screening and counselling for fragile X syndrome. ( 28387201 )
2017
48
Reduced Lateral Inhibition Impairs Olfactory Computations and Behaviors in a Drosophila Model of Fragile X Syndrome. ( 28366741 )
2017
49
Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients. ( 28815953 )
2017
50
Excess Translation of Epigenetic Regulators Contributes to Fragile X Syndrome and Is Alleviated by Brd4 Inhibition. ( 28823556 )
2017
Sources

Variations for Fragile X Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Fragile X Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 FMR1 p.Ile304Asn VAR_005234 rs121434622
2 FMR1 p.Arg138Gln VAR_064507 rs200163413
3 FMR1 p.Gly266Glu VAR_075977

ClinVar genetic disease variations for Fragile X Syndrome:

6
(show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 FMR1 NM_002024.5(FMR1): c.911T> A (p.Ile304Asn) single nucleotide variant Pathogenic rs121434622 GRCh37 Chromosome X, 147018053: 147018053
2 FMR1 NM_002024.5(FMR1): c.911T> A (p.Ile304Asn) single nucleotide variant Pathogenic rs121434622 GRCh38 Chromosome X, 147936534: 147936534
3 FMR1 FMR1, 1-BP DEL, 373A deletion Pathogenic
4 FMR1 NM_002024.5(FMR1): c.52-1_52delinsTA indel Pathogenic GRCh37 Chromosome X, 147003450: 147003451
5 FMR1 NM_002024.5(FMR1): c.52-1_52delinsTA indel Pathogenic GRCh38 Chromosome X, 147921932: 147921933
6 FMR1 FMR1, (CGG)n EXPANSION NT expansion Pathogenic
7 AFF2 NM_001169122.1(AFF2): c.-460_-458GCC(6_25) NT expansion Pathogenic rs193922937 GRCh37 Chromosome X, 147582158: 147582160
8 AFF2 NM_001169122.1(AFF2): c.-460_-458GCC(6_25) NT expansion Pathogenic rs193922937 GRCh38 Chromosome X, 148500638: 148500640
9 SERPINA1 NM_001127701.1(SERPINA1): c.1096G> A (p.Glu366Lys) single nucleotide variant Pathogenic rs28929474 GRCh37 Chromosome 14, 94844947: 94844947
10 SERPINA1 NM_001127701.1(SERPINA1): c.1096G> A (p.Glu366Lys) single nucleotide variant Pathogenic rs28929474 GRCh38 Chromosome 14, 94378610: 94378610
11 AFF2 AFF2, 121- to 145-KB DEL deletion Pathogenic
12 FMR1 FMR1, SER27TER single nucleotide variant Pathogenic
13 FMR1 NM_002024.5(FMR1): c.-128_-126(200) NT expansion Pathogenic rs193922936 GRCh38 Chromosome X, 147912052: 147912054
14 FMR1 NM_002024.5(FMR1): c.-128_-126(200) NT expansion Pathogenic rs193922936 GRCh37 Chromosome X, 146993570: 146993572
15 FMR1 NC_000023.9: g.146703942_146820448del deletion Pathogenic NCBI36 Chromosome X, 146703942: 146820448
16 AFF2 NM_001169124.1(AFF2): c.*4554C> G single nucleotide variant Uncertain significance rs864321652 GRCh37 Chromosome X, 148077416: 148077416
17 AFF2 NM_001169124.1(AFF2): c.*4554C> G single nucleotide variant Uncertain significance rs864321652 GRCh38 Chromosome X, 148995886: 148995886
18 ADGB; GRM1; LOC101928661; RAB32 NC_000006.12: g.146414070_146715778del301709 deletion Pathogenic GRCh38 Chromosome 6, 146414070: 146715778
19 ADGB; GRM1; LOC101928661; RAB32 NC_000006.12: g.146414070_146715778del301709 deletion Pathogenic GRCh37 Chromosome 6, 146735206: 147036914

Copy number variations for Fragile X Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 60593 11 88300000 92800000 Copy number GRM5 Fragile x
2 259561 X 137800000 146900000 Copy number FMR1 Fragile x
Sources

Expression for Fragile X Syndrome

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

Pathways for Fragile X Syndrome

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Pathways related to Fragile X Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 RNA transport hsa03013

Pathways related to Fragile X Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
11.7 FMR1 FXR1 FXR2 GRIA1 GRM1 GRM5
2
Protein-protein interactions at synapses 66
Show member pathways
 11.66 GRIA1 GRM1 GRM5
3
RNA transport 37
11.49 CYFIP1 FMR1 FXR1 FXR2
4
MECP2 and Associated Rett Syndrome 1
11.12 BDNF GRIA1 MECP2
5
GPCRs, Class C Metabotropic glutamate, pheromone 1
10.53 GRM1 GRM5
6
ERK Pathway in Huntingtons Disease 1
10.4 BDNF GRM1
Sources

GO Terms for Fragile X Syndrome

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Cellular components related to Fragile X Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.88 BDNF FMR1 FXR1 GRIA1 GRM1 MAP1B
2 axon GO:0030424 9.85 BDNF FMR1 FXR1 FXR2 MAP1B
3 neuron projection GO:0043005 9.85 CYFIP1 FMR1 GRIA1 GRM1 GRM5 SLC6A4
4 neuronal cell body GO:0043025 9.8 CYFIP1 FMR1 FXR1 FXR2 GRIA1 MAP1B
5 presynaptic membrane GO:0042734 9.7 FMR1 GRM1 GRM5
6 cytoplasmic ribonucleoprotein granule GO:0036464 9.69 FMR1 FXR1 FXR2
7 postsynapse GO:0098794 9.67 FMR1 GRIA1 MECP2
8 polysome GO:0005844 9.65 FMR1 FXR1 FXR2
9 postsynaptic density membrane GO:0098839 9.61 GRIA1 GRM1 GRM5
10 filopodium tip GO:0032433 9.56 CYFIP1 FMR1
11 somatodendritic compartment GO:0036477 9.55 GRIA1 MAP1B
12 mRNA cap binding complex GO:0005845 9.54 CYFIP1 FMR1
13 ribonucleoprotein granule GO:0035770 9.43 FMR1 FXR1 FXR2
14 dendritic spine GO:0043197 9.43 CYFIP1 FMR1 FXR1 FXR2 GRIA1 MAP1B
15 neuronal ribonucleoprotein granule GO:0071598 9.33 FMR1 FXR1 FXR2
16 postsynaptic density GO:0014069 9.17 FMR1 FXR1 FXR2 GRIA1 GRM1 GRM5

Biological processes related to Fragile X Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.84 GRIA1 GRM1 GRM5 MECP2
2 central nervous system development GO:0007417 9.74 FMR1 FXR1 FXR2
3 regulation of mRNA stability GO:0043488 9.73 FMR1 FXR1 FXR2
4 locomotory behavior GO:0007626 9.7 GRM1 GRM5 MECP2
5 negative regulation of translation GO:0017148 9.67 FMR1 FXR1 FXR2
6 memory GO:0007613 9.65 BDNF MECP2 SLC6A4
7 positive regulation of translation GO:0045727 9.63 FMR1 FXR1 FXR2
8 neuron development GO:0048666 9.58 FMR1 FXR1 FXR2
9 G-protein coupled glutamate receptor signaling pathway GO:0007216 9.55 GRM1 GRM5
10 anterograde axonal transport GO:0008089 9.54 FMR1 FXR1 FXR2
11 positive regulation of gene silencing by miRNA GO:2000637 9.51 FMR1 FXR1
12 regulation of dendrite morphogenesis GO:0048814 9.5 FMR1 FXR1 FXR2
13 adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway GO:0007196 9.43 GRM1 GRM5
14 regulation of dendritic spine development GO:0060998 9.43 FMR1 FXR1 FXR2
15 regulation of modification of synaptic structure GO:1905244 9.33 FMR1 FXR1 FXR2
16 regulation of postsynaptic cytosolic calcium ion concentration GO:0099566 9.13 GRIA1 GRM1 GRM5
17 regulation of translation at postsynapse, modulating synaptic transmission GO:0099578 8.8 FMR1 FXR1 FXR2

Molecular functions related to Fragile X Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA binding GO:0003729 9.67 FMR1 FXR1 FXR2 MECP2
2 mRNA 3-UTR binding GO:0003730 9.61 FMR1 FXR1 FXR2
3 siRNA binding GO:0035197 9.46 FMR1 MECP2
4 glutamate receptor activity GO:0008066 9.43 GRIA1 GRM1 GRM5
5 RNA strand annealing activity GO:0033592 9.4 FMR1 FXR1
6 translation regulator activity GO:0045182 9.33 FMR1 FXR1 FXR2
7 G-protein coupled receptor activity involved in regulation of postsynaptic membrane potential GO:0099530 9.32 GRM1 GRM5
8 G-quadruplex RNA binding GO:0002151 9.13 AFF2 FMR1 FXR1
9 neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration GO:0099583 8.8 GRIA1 GRM1 GRM5
Sources

Sources for Fragile X Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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