FXS
MCID: FRG001
MIFTS: 70

Fragile X Syndrome (FXS)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Fragile X Syndrome

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:



Summaries for Fragile X Syndrome

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 Transmission across Chemical Synapses. 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

Disease Ontology : 12 A X-linked dominant 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 : 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.

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.

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

Related Diseases for Fragile X Syndrome

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 140)
# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, associated with fragile site fraxe 34.6 AFF2 SERPINA1
2 fragile x tremor/ataxia syndrome 33.0 FMR1 FMR1-AS1 LOC108684022
3 autism 31.2 BDNF CYFIP1 FMR1 GRM5 MECP2 SLC6A4
4 autism spectrum disorder 31.0 BDNF FMR1 MECP2 SLC6A4
5 fragile x-associated tremor/ataxia syndrome 30.7 FMR1 GRM5 LOC108684022
6 depression 30.3 BDNF GRIA1 GRM1 SLC6A4
7 attention deficit-hyperactivity disorder 30.2 BDNF FMR1 GRM5 MECP2 SLC6A4
8 disease of mental health 29.9 BDNF FMR1 GRM5 MECP2 SLC6A4
9 pervasive developmental disorder 29.8 BDNF FMR1 GRM5 MECP2 SLC6A4
10 fragile x syndrome type 1 12.1
11 fragile x syndrome type 2 12.1
12 fragile x syndrome type 3 12.1
13 factor x deficiency 11.5
14 premature ovarian failure 1 11.5
15 bone fracture 11.2
16 childhood apraxia of speech 11.0
17 osteoporotic fracture 10.7
18 osteoporosis 10.6
19 down syndrome 10.5
20 anxiety 10.5
21 alacrima, achalasia, and mental retardation syndrome 10.3
22 tremor 10.3
23 bone mineral density quantitative trait locus 8 10.3
24 bone mineral density quantitative trait locus 15 10.3
25 epilepsy 10.3
26 rheumatoid arthritis 10.2
27 cerebellar atrophy, developmental delay, and seizures 10.2
28 arthritis 10.2
29 williams-beuren syndrome 10.2
30 x-linked hereditary ataxia 10.2 FMR1 GRM5
31 learning disability 10.2
32 glucosephosphate dehydrogenase deficiency 10.1
33 47, xxy 10.1
34 colorectal cancer 10.1
35 prader-willi syndrome 10.1
36 asperger syndrome 10.1 BDNF MECP2 SLC6A4
37 celiac disease 1 10.1
38 central nervous system disease 10.1 BDNF GRM1 GRM5 SLC6A4
39 cystic fibrosis 10.0
40 cognitive function 1, social 10.0
41 spinal muscular atrophy 10.0
42 tuberous sclerosis 10.0
43 turner syndrome 10.0
44 muscular atrophy 10.0
45 myotonic dystrophy 10.0
46 myotonia atrophica 10.0
47 diabetes mellitus, noninsulin-dependent 10.0
48 diabetes mellitus 10.0
49 hepatocellular carcinoma 10.0
50 thrombophilia due to thrombin defect 10.0

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



Diseases related to Fragile X Syndrome

Symptoms & Phenotypes for Fragile X Syndrome

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

Cardiovascular Heart:
mitral valve prolapse

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

Skeletal Limbs:
joint laxity

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 joint laxity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001388
20 intellectual disability, moderate 59 32 frequent (33%) Very frequent (99-80%) HP:0002342
21 narrow face 59 32 frequent (33%) Frequent (79-30%) HP:0000275
22 mitral valve prolapse 59 32 occasional (7.5%) Occasional (29-5%) HP:0001634
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 BDNF FMR1 FXR2 GRIA1 GRM1 GRM5
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

Drugs & Therapeutics for Fragile X Syndrome

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

(show top 50) (show all 97)
# 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
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
4
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
5
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
6 Protective Agents Phase 4,Phase 3,Phase 2,Not Applicable
7 Excitatory Amino Acid Antagonists Phase 4
8 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
9 Anticonvulsants Phase 4,Phase 2
10 Excitatory Amino Acids Phase 4
11 Neuroprotective Agents Phase 4,Not Applicable
12 L 647318 Phase 4,Phase 2
13 Anticholesteremic Agents Phase 4,Phase 2
14 Dihydromevinolin Phase 4,Phase 2
15 Lipid Regulating Agents Phase 4,Phase 2
16 Hypolipidemic Agents Phase 4,Phase 2
17 Antimetabolites Phase 4,Phase 2
18 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 2
19 Psychotropic Drugs Phase 4,Phase 2
20 Central Nervous System Depressants Phase 4,Phase 2
21 Antipsychotic Agents Phase 4,Phase 2
22 Serotonin Agents Phase 4,Phase 2
23 Neurotransmitter Uptake Inhibitors Phase 4,Phase 2
24 Tranquilizing Agents Phase 4,Phase 2
25 Central Nervous System Stimulants Phase 4
26 Dopamine Agents Phase 4
27 Dopamine Antagonists Phase 4
28 Serotonin Antagonists Phase 4
29 Dopamine Uptake Inhibitors Phase 4
30
Serotonin Investigational, Nutraceutical Phase 4,Phase 2 50-67-9 5202
31
Tocopherol Approved, Investigational Phase 3,Phase 2 1406-66-2 14986
32
Ethanol Approved Phase 3,Phase 2 64-17-5 702
33
Acamprosate Approved, Investigational Phase 3,Phase 2 77337-76-9 71158
34
Baclofen Approved Phase 3,Phase 2 1134-47-0 2284
35
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
36
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-02-9 14985
37
Vitamin C Approved, Nutraceutical Phase 3,Phase 2 50-81-7 5785 54670067
38 Tocotrienol Investigational Phase 3,Phase 2 6829-55-6
39 Micronutrients Phase 3,Phase 2
40 Antioxidants Phase 3,Phase 2,Not Applicable
41 Pharmaceutical Solutions Phase 3,Phase 2
42 Tocopherols Phase 3,Phase 2
43 Tocotrienols Phase 3,Phase 2
44 Vitamins Phase 3,Phase 2
45 Trace Elements Phase 3,Phase 2
46 Hypoglycemic Agents Phase 2, Phase 3
47
Sertraline Approved Phase 2 79617-96-2 68617
48 Strawberry Approved Phase 2
49
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
50
Aripiprazole Approved, Investigational Phase 2 129722-12-9 60795

Interventional clinical trials:

(show top 50) (show all 78)
# 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 Completed NCT02642653 Phase 4 Lovastatin
3 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
4 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 Unknown status NCT02942498 Phase 3 Vitamin C 10mg/Kg Vitamin E 10 mg/Kg;Placebo
5 Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome Completed NCT01282268 Phase 3 arbaclofen;placebo
6 Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 3 Acamprosate
7 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
8 Study of Acamprosate in Fragile x Syndrome Recruiting NCT01911455 Phase 2, Phase 3 acamprosate;Placebo
9 A Trial of Metformin in Individuals With Fragile X Syndrome Recruiting NCT03479476 Phase 2, Phase 3 Placebo Medication;Metformin
10 Clinical Study Of caNNabidiol in childrEn and adolesCenTs With Fragile X (CONNECT-FX) Recruiting NCT03614663 Phase 2, Phase 3 ZYN002 - CBD Transdermal Gel
11 Open Label Extension to Assess the Long-Term Safety and Tolerability of ZYN002 in Children and Adolescents With FXS Recruiting NCT03802799 Phase 2, Phase 3 ZYN002 - CBD Transdermal Gel
12 Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label) Terminated NCT01433354 Phase 2, Phase 3 AFQ056
13 An Open Label Extension Study in Subjects With Fragile X Syndrome Terminated NCT01555333 Phase 3 arbaclofen
14 Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome Completed NCT01253629 Phase 2 AFQ056;Placebo
15 Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome Completed NCT01357239 Phase 2 AFQ056;Placebo
16 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
17 Trial of Sertraline to Treat Children With Fragile X Syndrome Completed NCT01474746 Phase 2 Sertraline;Placebo
18 A Safety Study of NNZ-2566 in Patients With Fragile X Syndrome Completed NCT01894958 Phase 2 NNZ-2566;Placebo
19 Ganaxolone Treatment in Children With Fragile X Syndrome Completed NCT01725152 Phase 2 Ganaxolone;Placebo
20 Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X Syndrome Completed NCT00788073 Phase 2 STX209;Placebo
21 Safety and Efficacy Study of Antioxidants for the Treatment of the Fragile X Syndrome Completed NCT01329770 Phase 2
22 A Study of RO4917523 in Pediatric Patients With Fragile X Syndrome Completed NCT01750957 Phase 2 Placebo;RO4917523;RO4917523
23 Double-blind Placebo Controlled Study of Oxytocin in Fragile X Syndrome Completed NCT01254045 Phase 2 placebo;oxytocin 24IU;oxytocin 48IU
24 A Study of RO4917523 in Patients With Fragile X Syndrome Completed NCT01517698 Phase 2 Placebo;RO4917523 0.5 mg;RO4917523 1.5 mg
25 A Prospective Open-label Study of Aripiprazole in Fragile X Syndrome Completed NCT00420459 Phase 2 Aripiprazole
26 Randomized Controlled Study of Donepezil in Fragile X Syndrome Completed NCT01120626 Phase 2 donepezil;sugar pill
27 Combined Treatment of Minocycline and Lovastatin to Treat Individuals With Fragile X Syndrome Completed NCT02680379 Phase 2 Minocycline, then Minocycline/Lovastatin;Lovastatin, then Minocycline/Lovastatin
28 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
29 Effects of CX516 on Functioning in Fragile X Syndrome and Autism Completed NCT00054730 Phase 2 CX516 (Ampalex®)
30 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
31 Efficacy, Safety and Tolerability of AFQ056 in Fragile X Patients Completed NCT00718341 Phase 2 AF056;Placebo
32 Treatment of Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) With Allopregnanolone Completed NCT02603926 Phase 2 Allopregnanolone
33 Citocoline for Treatment of FXTAS Completed NCT02197104 Phase 2 citocoline
34 Metformin in Children and Adults With Fragile X Syndrome Recruiting NCT03722290 Phase 2 Metformin
35 A Study of OV101 in Individuals With Fragile X Syndrome Recruiting NCT03697161 Phase 2 OV101 (gaboxadol)
36 A 2-Period Crossover Study of BPN14770 in Adults Males With Fragile X Syndrome Recruiting NCT03569631 Phase 2 BPN14770;Placebo
37 Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome Recruiting NCT02616796 Phase 1, Phase 2
38 AFQ056 for Language Learning in Children With FXS Recruiting NCT02920892 Phase 2 AFQ056
39 Single-Dose Acamprosate, Lovastatin, Minocycline and Placebo in Fragile X Syndrome Enrolling by invitation NCT02998151 Phase 2 Acamprosate;Lovastatin;Minocycline;Placebo
40 A Study to Assess the Tolerability of a Single Dose of STX107 in Adults With Fragile X Syndrome Suspended NCT01325740 Phase 2 STX107
41 An Open Label Extension Study of STX209 in Subjects With Fragile X Syndrome Terminated NCT01013480 Phase 2 Arbaclofen
42 Long-term, Safety, Tolerability and Efficacy Study of AFQ056 in Adult Patients With Fragile X Syndrome Terminated NCT01348087 Phase 2 AFQ056
43 Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts Unknown status NCT02567357 Phase 1
44 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
45 An Open-Label Trial of Donepezil in Fragile X Syndrome Completed NCT00220584 Phase 1 donepezil
46 Single Dose Pharmacokinetic (PK) Study Completed NCT03109756 Phase 1 OV101
47 A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107 Completed NCT00965432 Phase 1 STX107
48 A PET Brain Imaging Study of mGluR5 in Subjects With Neuropsychiatric Conditions Completed NCT00870974 Phase 1 [18F]FPEB
49 An Initial Study of AZD7325 in Adults With Fragile X Syndrome Recruiting NCT03140813 Phase 1 AZD7325 (High-Dose);AZD7325 (Low-Dose);Placebo oral capsule
50 Glutaminergic Transmission in Autism : Molecular Imaging Exploration Recruiting NCT02719951 Phase 1 [18F]FPEB PET imaging

Search NIH Clinical Center for Fragile X Syndrome

Cochrane evidence based reviews: fragile x syndrome

Genetic Tests for Fragile X Syndrome

Genetic tests related to Fragile X Syndrome:

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

Anatomical Context for Fragile X Syndrome

MalaCards organs/tissues related to Fragile X Syndrome:

41
Brain, Testes, Eye, Amygdala, Cortex, Kidney, Bone

Publications for Fragile X Syndrome

Articles related to Fragile X Syndrome:

(show top 50) (show all 1350)
# 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
Prevalence and Predictors of Anxiety Disorders in Adolescent and Adult Males with Autism Spectrum Disorder and Fragile X Syndrome. ( 30430320 )
2018
38
Biobehavioral composite of social aspects of anxiety in young adults with fragile X syndrome contrasted to autism spectrum disorder. ( 30307687 )
2018
39
A Multimethod Analysis of Pragmatic Skills in Children and Adolescents With Fragile X Syndrome, Autism Spectrum Disorder, and Down Syndrome. ( 30418476 )
2018
40
The use of demonstratives and personal pronouns in fragile X syndrome and autism spectrum disorder. ( 30346853 )
2018
41
Brief Report: Implementation of a Specific Carbohydrate Diet for a Child with Autism Spectrum Disorder and Fragile X Syndrome. ( 30076499 )
2018
42
Response to name and its value for the early detection of developmental disorders: Insights from autism spectrum disorder, Rett syndrome, and fragile X syndrome. A perspectives paper. ( 29655507 )
2018
43
Grammar in Boys With Idiopathic Autism Spectrum Disorder and Boys With Fragile X Syndrome Plus Autism Spectrum Disorder. ( 29541769 )
2018
44
Expressed emotion and impulsiveness in mothers of children with Fragile X Syndrome and Down Syndrome: The relation to behavioral problems in their offspring. ( 30240913 )
2018
45
Specificity: A Phenotypic Comparison of Communication-Relevant Domains Between Youth With Down Syndrome and Fragile X Syndrome. ( 30327664 )
2018
46
Protein synthesis levels are increased in a subset of individuals with fragile X syndrome. ( 29590342 )
2018
47
Neural Dynamics of Autistic Repetitive Behaviors and Fragile X Syndrome: Basal Ganglia Movement Gating and mGluR-Modulated Adaptively Timed Learning. ( 29593596 )
2018
48
Of Men and Mice: Modeling the Fragile X Syndrome. ( 29599705 )
2018
49
Translation-relevant EEG phenotypes in a mouse model of Fragile X Syndrome. ( 29605426 )
2018
50
Development of White Matter Circuitry in Infants With Fragile X Syndrome. ( 29617515 )
2018

Variations for Fragile X Syndrome

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 GRCh37 Chromosome 6, 146735206: 147036914
19 ADGB; GRM1; LOC101928661; RAB32 NC_000006.12: g.146414070_146715778del301709 deletion Pathogenic GRCh38 Chromosome 6, 146414070: 146715778

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

Expression for Fragile X Syndrome

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

Pathways for Fragile X Syndrome

Pathways related to Fragile X Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 RNA transport hsa03013

GO Terms for Fragile X Syndrome

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.85 BDNF FMR1 FXR1 FXR2 MAP1B
2 dendrite GO:0030425 9.85 BDNF FMR1 FXR1 GRIA1 GRM1 MAP1B
3 neuron projection GO:0043005 9.8 CYFIP1 FMR1 GRIA1 GRM1 GRM5 SLC6A4
4 neuronal cell body GO:0043025 9.73 CYFIP1 FMR1 FXR1 FXR2 GRIA1 MAP1B
5 postsynapse GO:0098794 9.71 FMR1 GRIA1 MECP2
6 cytoplasmic ribonucleoprotein granule GO:0036464 9.65 FMR1 FXR1 FXR2
7 polysome GO:0005844 9.61 FMR1 FXR1 FXR2
8 postsynaptic density membrane GO:0098839 9.58 GRIA1 GRM1 GRM5
9 filopodium tip GO:0032433 9.52 CYFIP1 FMR1
10 somatodendritic compartment GO:0036477 9.51 GRIA1 MAP1B
11 mRNA cap binding complex GO:0005845 9.49 CYFIP1 FMR1
12 postsynaptic density GO:0014069 9.43 FMR1 FXR1 FXR2 GRIA1 GRM1 MAP1B
13 ribonucleoprotein granule GO:0035770 9.33 FMR1 FXR1 FXR2
14 dendritic spine GO:0043197 9.1 CYFIP1 FMR1 FXR1 FXR2 GRIA1 MAP1B

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.76 GRIA1 GRM1 GRM5 MECP2
2 regulation of translation GO:0006417 9.67 CYFIP1 FMR1 GRM5
3 memory GO:0007613 9.58 BDNF MECP2 SLC6A4
4 negative regulation of translation GO:0017148 9.54 FMR1 FXR1 FXR2
5 positive regulation of translation GO:0045727 9.5 FMR1 FXR1 FXR2
6 G protein-coupled glutamate receptor signaling pathway GO:0007216 9.48 GRM1 GRM5
7 positive regulation of gene silencing by miRNA GO:2000637 9.43 FMR1 FXR1
8 regulation of mRNA stability GO:0043488 9.43 FMR1 FXR1 FXR2
9 regulation of postsynaptic membrane potential GO:0060078 9.33 GRIA1 GRM1 GRM5
10 regulation of translation at postsynapse, modulating synaptic transmission GO:0099578 8.96 CYFIP1 FMR1
11 regulation of postsynaptic cytosolic calcium ion concentration GO:0099566 8.8 GRIA1 GRM1 GRM5

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 G-quadruplex RNA binding GO:0002151 9.4 AFF2 FMR1
5 glutamate receptor activity GO:0008066 9.33 GRIA1 GRM1 GRM5
6 RNA strand annealing activity GO:0033592 9.32 FMR1 FXR1
7 G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential GO:0099530 9.26 GRM1 GRM5
8 translation regulator activity GO:0045182 9.26 CYFIP1 FMR1 FXR1 FXR2
9 neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration GO:0099583 8.8 GRIA1 GRM1 GRM5

Sources for Fragile X Syndrome

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
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