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Fragile X Syndrome

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

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MalaCards integrated aliases for Fragile X Syndrome:

Name: Fragile X Syndrome 53 12 72 49 24 55 71 36 28 13 51 40 3 41 14 69
Martin-Bell Syndrome 53 12 49 24 55
Fraxa Syndrome 49 24 55 51 69
Fxs 53 49 24 55 3
X-Linked Mental Retardation and Macroorchidism 53 72 49 24
Marker X Syndrome 53 12 49 24
Fraxe Syndrome 49 24 51 69
Fragile X Mental Retardation Syndrome 53 12
Fragile Xe Syndrome 49 24
Fra Syndrome 49 24
Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 24
X-Linked Mental Retardation Associated with Fragile Site Fraxe 49
Symptomatic Form of Fragile X Syndrome in Female Carrier 55
Mental Retardation, X-Linked, Associated with Marxq28 53
Mental Retardation, X-Linked, Fraxe Type 24
Fraxe Mental Retardation Syndrome 24
Fragile Site, Folic Acid Type 49
Fraxe Intellectual Disability 24
Fraxe Intellectual Deficit 24
Frax Syndrome 55
Fraxe 28
Frax 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
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: Mental diseases Neuronal diseases Eye diseases Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 55  
Rare neurological diseases
Rare eye diseases
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Fragile X Syndrome

About this section
MedlinePlus : 40 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 fragile x tremor/ataxia syndrome and mental retardation, x-linked, associated with fragile site fraxe, and has symptoms including seizures, joint laxity and macrocephaly. 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 behavior/neurological and integument

OMIM : 53 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 : 71 Fragile X syndrome: Common genetic disease (has a prevalence of one in every 2000 children) which is 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 fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region.

NIH Rare Diseases : 49 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. Last updated: 5/12/2016

Genetics Home Reference : 24 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 : 72 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 115)
# Related Disease Score Top Affiliating Genes
1 fragile x tremor/ataxia syndrome 33.0 FMR1 LOC108684022
2 mental retardation, x-linked, associated with fragile site fraxe 31.3 AFF2 SERPINA1
3 fragile x-associated tremor/ataxia syndrome 30.8 FMR1 GRM5 LOC108684022
4 autism spectrum disorder 30.6 BDNF FMR1 MECP2 SLC6A4
5 autism 30.5 BDNF CYFIP1 FMR1 GRM5 MECP2 SLC6A4
6 status epilepticus 29.8 BDNF GRIA1 GRM5
7 attention deficit-hyperactivity disorder 29.6 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 bone fracture 11.1
13 childhood apraxia of speech 10.9
14 down syndrome 10.3
15 aging 10.3
16 anxiety 10.2
17 neuronitis 10.2
18 ataxia and polyneuropathy, adult-onset 10.2
19 tremor 10.2
20 epilepsy 10.1
21 alacrima, achalasia, and mental retardation syndrome 10.1
22 x-linked disease 10.1 AFF2 FMR1 FXR1 FXR2 GRM5
23 premature ovarian failure 1 10.0
24 fmr1-related disorders 10.0
25 atrial septal defect 1 10.0
26 williams-beuren syndrome 10.0
27 learning disability 10.0
28 ring chromosome y syndrome 10.0
29 pervasive developmental disorder 10.0 BDNF FMR1 LOC108684022 MECP2 SLC6A4
30 central nervous system disease 9.9 BDNF GRM1 GRM5 SLC6A4
31 major depressive disorder 9.9 BDNF GRIA1 GRM5 SLC6A4
32 disease of mental health 9.9 BDNF FMR1 GRM5 MECP2 SLC6A4
33 fibrosis of extraocular muscles, congenital, 1 9.9
34 prader-willi syndrome 9.9
35 cystic fibrosis 9.9
36 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 9.9
37 spinal muscular atrophy 9.9
38 turner syndrome 9.9
39 muscular atrophy 9.9
40 myotonic dystrophy 9.9
41 bruxism 9.9 MECP2 SLC6A4
42 neurofibromatosis, type iv, of riccardi 9.8
43 friedreich ataxia 1 9.8
44 cognitive function 1, social 9.8
45 stuttering 9.8
46 cerebritis 9.8
47 muscular dystrophy 9.8
48 boutonneuse fever 9.8 AFF2 SERPINA1
49 achondroplasia 9.7
50 alzheimer disease 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:

53
NeurologicCentralNervousSystem:
seizures
abnormal head movements
mental retardation (moderate to severe in males)
periventricular heterotopia

HeadAndNeckHead:
macrocephaly

SkeletalSpine:
scoliosis

CardiovascularHeart:
mitral valve prolapse

LaboratoryAbnormalities:
folate-dependent fragile site at xq28

GenitourinaryExternalGenitaliaMale:
macroorchidism, postpubertal
congenital macroorchidism (in some patients)

SkeletalLimbs:
joint laxity

ChestRibsSternumClaviclesAndScapulae:
pectus excavatum

SkeletalFeet:
pes planus

HeadAndNeckFace:
long face
large forehead
coarse facies
prominent jaw

NeurologicBehavioralPsychiatricManifestations:
poor eye contact
autistic features
hyperactive behavior

HeadAndNeckEars:
large ears


Clinical features from OMIM:

300624

Human phenotypes related to Fragile X Syndrome:

55 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 joint laxity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001388
3 macrocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000256
4 frontal bossing 55 31 frequent (33%) Frequent (79-30%) HP:0002007
5 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
6 neurological speech impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0002167
7 self-injurious behavior 55 31 occasional (7.5%) Occasional (29-5%) HP:0100716
8 mandibular prognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000303
9 chronic otitis media 55 31 hallmark (90%) Very frequent (99-80%) HP:0000389
10 macroorchidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000053
11 pes planus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001763
12 gastroesophageal reflux 55 31 frequent (33%) Frequent (79-30%) HP:0002020
13 sinusitis 55 31 frequent (33%) Frequent (79-30%) HP:0000246
14 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
15 autism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000717
16 attention deficit hyperactivity disorder 55 31 frequent (33%) Frequent (79-30%) HP:0007018
17 anxiety 55 31 occasional (7.5%) Occasional (29-5%) HP:0000739
18 protruding ear 55 31 frequent (33%) Frequent (79-30%) HP:0000411
19 cerebral cortical atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0002120
20 intellectual disability, moderate 55 31 frequent (33%) Very frequent (99-80%) HP:0002342
21 narrow face 55 31 frequent (33%) Frequent (79-30%) HP:0000275
22 mitral valve prolapse 55 31 occasional (7.5%) Occasional (29-5%) HP:0001634
23 long face 55 31 frequent (33%) Frequent (79-30%) HP:0000276
24 large forehead 55 31 frequent (33%) Frequent (79-30%) HP:0002003
25 folate-dependent fragile site at xq28 55 31 hallmark (90%) Very frequent (99-80%) HP:0003564
26 abnormal head movements 31 HP:0002457
27 pectus excavatum 31 HP:0000767
28 scoliosis 31 HP:0002650
29 coarse facial features 31 HP:0000280
30 macrotia 31 HP:0000400
31 dilatation of the ascending aorta 55 Occasional (29-5%)
32 otitis media 55 Frequent (79-30%)
33 hyperactivity 31 HP:0000752
34 periventricular gray matter heterotopia 31 HP:0007165
35 poor eye contact 31 HP:0000817
36 macroorchidism, postpubertal 31 HP:0002050
37 congenital macroorchidism 31 HP:0008640
38 ascending tubular aorta aneurysm 31 occasional (7.5%) HP:0004970

UMLS symptoms related to Fragile X Syndrome:


agitation, seizures

MGI Mouse Phenotypes related to Fragile X Syndrome:

43
# 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 MECP2 NR1H4 SLC6A4 BDNF FMR1 FXR2
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 20748-11-2, 113-45-1 4158
5
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
6 Central Nervous System Depressants Phase 4,Phase 2
7 Anticonvulsants Phase 4
8 Excitatory Amino Acid Antagonists Phase 4
9 Excitatory Amino Acids Phase 4
10 Neuroprotective Agents Phase 4
11 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
12 Protective Agents Phase 4,Phase 3,Phase 2
13 Antipsychotic Agents Phase 4,Phase 2
14 Neurotransmitter Uptake Inhibitors Phase 4,Phase 2
15 Psychotropic Drugs Phase 4,Phase 2
16
Serotonin Phase 4,Phase 2 50-67-9 5202
17 Serotonin Agents Phase 4,Phase 2
18 Tranquilizing Agents Phase 4,Phase 2
19 Anticholesteremic Agents Phase 4,Phase 2
20 Antimetabolites Phase 4,Phase 2
21 Dihydromevinolin Phase 4,Phase 2
22 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 2
23 Hypolipidemic Agents Phase 4,Phase 2
24 L 647318 Phase 4,Phase 2
25 Lipid Regulating Agents Phase 4,Phase 2
26 Central Nervous System Stimulants Phase 4
27 Dopamine Agents Phase 4
28 Dopamine Antagonists Phase 4
29 Dopamine Uptake Inhibitors Phase 4
30 Serotonin Antagonists Phase 4
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
35
Vitamin C Approved, Nutraceutical Phase 3,Phase 2 50-81-7 54670067 5785
36
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-02-9 14985
37 Antioxidants Phase 3,Phase 2
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 53477758 439302
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 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 67)

# 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 Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label) Terminated NCT01433354 Phase 2, Phase 3 AFQ056
10 An Open Label Extension Study in Subjects With Fragile X Syndrome Terminated NCT01555333 Phase 3 arbaclofen
11 Ganaxolone Treatment in Children With Fragile X Syndrome Unknown status NCT01725152 Phase 2 Ganaxolone;Placebo
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 Trial of Sertraline to Treat Children With Fragile X Syndrome Completed NCT01474746 Phase 2 Sertraline;Placebo
16 Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X Syndrome Completed NCT00788073 Phase 2 STX209;Placebo
17 A Safety Study of NNZ-2566 in Patients With Fragile X Syndrome Completed NCT01894958 Phase 2 NNZ-2566;Placebo
18 Safety and Efficacy Study of Antioxidants for the Treatment of the Fragile X Syndrome Completed NCT01329770 Phase 2
19 A Study of RO4917523 in Pediatric Patients With Fragile X Syndrome Completed NCT01750957 Phase 2 Placebo;RO4917523;RO4917523
20 Double-blind Placebo Controlled Study of Oxytocin in Fragile X Syndrome Completed NCT01254045 Phase 2 placebo;oxytocin 24IU;oxytocin 48IU
21 A Study of RO4917523 in Patients With Fragile X Syndrome Completed NCT01517698 Phase 2 Placebo;RO4917523 0.5 mg;RO4917523 1.5 mg
22 A Prospective Open-label Study of Aripiprazole in Fragile X Syndrome Completed NCT00420459 Phase 2 Aripiprazole
23 Randomized Controlled Study of Donepezil in Fragile X Syndrome Completed NCT01120626 Phase 2 donepezil;sugar pill
24 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
25 Effects of CX516 on Functioning in Fragile X Syndrome and Autism Completed NCT00054730 Phase 2 CX516 (Ampalex®)
26 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
27 Efficacy, Safety and Tolerability of AFQ056 in Fragile X Patients Completed NCT00718341 Phase 2 AF056;Placebo
28 Citocoline for Treatment of FXTAS Completed NCT02197104 Phase 2 citocoline
29 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
30 Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome Recruiting NCT02616796 Phase 1, Phase 2
31 AFQ056 for Language Learning in Children With FXS Recruiting NCT02920892 Phase 2 AFQ056
32 Single-Dose Acamprosate, Lovastatin, Minocycline and Placebo in Fragile X Syndrome Enrolling by invitation NCT02998151 Phase 2 Acamprosate;Lovastatin;Minocycline;Placebo
33 Treatment of Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) With Allopregnanolone Enrolling by invitation NCT02603926 Phase 2 Allopregnanolone
34 A Study to Assess the Tolerability of a Single Dose of STX107 in Adults With Fragile X Syndrome Suspended NCT01325740 Phase 2 STX107
35 An Open Label Extension Study of STX209 in Subjects With Fragile X Syndrome Terminated NCT01013480 Phase 2 Arbaclofen
36 Long-term, Safety, Tolerability and Efficacy Study of AFQ056 in Adult Patients With Fragile X Syndrome Terminated NCT01348087 Phase 2 AFQ056
37 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
38 An Open-Label Trial of Donepezil in Fragile X Syndrome Completed NCT00220584 Phase 1 donepezil
39 Single Dose Pharmacokinetic (PK) Study Completed NCT03109756 Phase 1 OV101
40 A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107 Completed NCT00965432 Phase 1 STX107
41 A PET Brain Imaging Study of mGluR5 in Subjects With Neuropsychiatric Conditions Completed NCT00870974 Phase 1 [18F]FPEB
42 Glutaminergic Transmission in Autism : Molecular Imaging Exploration Recruiting NCT02719951 Phase 1 [18F]FPEB PET imaging
43 Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts Active, not recruiting NCT02567357 Phase 1
44 An Initial Study of AZD7325 in Adults With Fragile X Syndrome Not yet recruiting NCT03140813 Phase 1 AZD7325 (High-Dose);AZD7325 (Low-Dose);Placebo oral capsule
45 Teaching Math Skills to Individuals With Fragile X Syndrome Unknown status NCT01204151
46 Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay Unknown status NCT01616589
47 Aromatase Activity and Ovarian Growth Factors in African-American Versus Caucasian Women Unknown status NCT00334971
48 Decisional Capacity and Informed Consent in Fragile X Syndrome Completed NCT02465931
49 Trial of Minocycline to Treat Children With Fragile X Syndrome Completed NCT01053156 minocycline hydrochloride;Placebo
50 Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrome Completed NCT00858689 Minocycline

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 28 FMR1
2 Fraxe 28 AFF2
Sources

Anatomical Context for Fragile X Syndrome

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MalaCards organs/tissues related to Fragile X Syndrome:

38
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 920)
# Title Authors Year
1
Genetic cluster of fragile X syndrome in a Colombian district. ( 29379191 )
2018
2
Risperidone Treatment for Irritability in Fragile X Syndrome. ( 29394101 )
2018
3
CORRIGENDUM: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. ( 29388943 )
2018
4
Fragile X syndrome with mosaic size mutation in a Bantu patient from Central Africa. ( 29319541 )
2018
5
Fragile X syndrome and fragile X-associated tremor ataxia syndrome. ( 29325626 )
2018
6
Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach. ( 29378522 )
2018
7
Alterations in CA1 hippocampal synapses in a mouse model of fragile X syndrome. ( 29274095 )
2018
8
Haplotype Analysis of DXS548 and FRAXAC1 Microsatellite Loci in Iranian Patients with Fragile X Syndrome. ( 29379561 )
2018
9
Normal CA1 Place Fields but Discoordinated Network Discharge in a Fmr1-Null Mouse Model of Fragile X Syndrome. ( 29358017 )
2018
10
Imbalance of synaptic actin dynamics as a key to the Fragile X syndrome? ( 29380377 )
2018
11
Functional changes of AMPA responses in human induced pluripotent stem cell-derived neural progenitors in fragile X syndrome. ( 29339535 )
2018
12
Evaluating Sensory Processing in Fragile X Syndrome: Psychometric Analysis of the Brain Body Center Sensory Scales (BBCSS). ( 29417435 )
2018
13
Gaze avoidance and perseverative language in fragile X syndrome and autism spectrum disorder: brief report. ( 29333915 )
2018
14
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
15
Adaptive behavior in infants and toddlers with Down syndrome and fragile X syndrome. ( 29399949 )
2018
16
Acamprosate rescues neuronal defects in the Drosophila model of Fragile X Syndrome. ( 29317220 )
2018
17
Differential effects of anxiety and autism on social scene scanning in males with fragile X syndrome. ( 28946865 )
2017
18
Fragile X Syndrome: Lessons Learned from the Most Translated Neurodevelopmental Disorder in Clinical Trials. ( 28400977 )
2017
19
Reduced Lateral Inhibition Impairs Olfactory Computations and Behaviors in a Drosophila Model of Fragile X Syndrome. ( 28366741 )
2017
20
Fragile X syndrome: a review of clinical and molecular diagnoses. ( 28420439 )
2017
21
A Screening Tool to Measure Eye Contact Avoidance in Boys with Fragile X Syndrome. ( 28516425 )
2017
22
Prospective study of autism phenomenology and the behavioural phenotype of Phelan-McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder. ( 29126394 )
2017
23
Deficient Sleep in Mouse Models of Fragile X Syndrome. ( 28919851 )
2017
24
Negative Effects of Chronic Rapamycin Treatment on Behavior in a Mouse Model of Fragile X Syndrome. ( 29375310 )
2017
25
Metformin ameliorates core deficits in a mouse model of fragile X syndrome. ( 28504725 )
2017
26
Behavioral Markers of Emergent Stranger Anxiety in Infants and Toddlers with Fragile X Syndrome. ( 28856552 )
2017
27
Visuo-spatial construction trajectories in Fragile X Syndrome (FXS) and Autism Spectrum Disorders (ASD): Evidence of cognitive heterogeneity within neurodevelopmental conditions. ( 28923376 )
2017
28
ESCRT-III Membrane Trafficking Misregulation Contributes To Fragile X Syndrome Synaptic Defects. ( 28819289 )
2017
29
A resting EEG study of neocortical hyperexcitability and altered functional connectivity in fragile X syndrome. ( 28316753 )
2017
30
Beneficial effect of interventional exercise on autistic Fragile X syndrome. ( 28533625 )
2017
31
GABA-B Agonist Baclofen Normalizes Auditory-Evoked Neural Oscillations and Behavioral Deficits in the Fmr1 Knockout Mouse Model of Fragile X Syndrome. ( 28451631 )
2017
32
Altered visual repetition suppression in Fragile X Syndrome: New evidence from ERPs and oscillatory activity. ( 28330777 )
2017
33
Decreased surface expression of the I' subunit of the GABAA receptor contributes to reduced tonic inhibition in dentate granule cells in a mouse model of fragile X syndrome. ( 28822839 )
2017
34
New insights of altered lipid profile in Fragile X Syndrome. ( 28334053 )
2017
35
The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary. ( 28814536 )
2017
36
Human pluripotent stem cells in modeling human disorders: the case of fragile X syndrome. ( 27900874 )
2017
37
FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome. ( 28814539 )
2017
38
Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment. ( 28814540 )
2017
39
Finding drugs for fragile X syndrome. ( 28473566 )
2017
40
Molecular biomarkers predictive of sertraline treatment response in young children with fragile X syndrome. ( 28242040 )
2017
41
Review of Salient Investigational Drugs for the Treatment of Fragile X Syndrome. ( 28475355 )
2017
42
Intranasal siRNA administration reveals IGF2 deficiency contributes to impaired cognition in Fragile X syndrome mice. ( 28352664 )
2017
43
Size and methylation mosaicism in males with Fragile X syndrome. ( 28929824 )
2017
44
Deficits in the activity of presynaptic I^-aminobutyric acid type B receptors contribute to altered neuronal excitability in fragile X syndrome. ( 28213518 )
2017
45
Challenges in prenatal screening and counselling for fragile X syndrome. ( 28387201 )
2017
46
Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients. ( 28815953 )
2017
47
Children With Fragile X Syndrome Display Threat-Specific Biases Toward Emotion. ( 29348038 )
2017
48
New connections: Treating fragile X syndrome. ( 28465418 )
2017
49
Cell-Type-Specific Translation Profiling Reveals a Novel Strategy for Treating Fragile X Syndrome. ( 28772121 )
2017
50
Effect of the mGluR5-NAM Basimglurant on Behavior in Adolescents and Adults with Fragile X Syndrome in a Randomized, Double-Blind, Placebo-Controlled Trial: FragXis Phase 2 Results. ( 28816242 )
2017
Sources

Variations for Fragile X Syndrome

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

71
# 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 11)
# 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 FMR1, 1-BP DEL, 373A deletion Pathogenic
3 FMR1 FMR1, IVS2AS1, G-T, -1 AND G-A, +1 single nucleotide variant Pathogenic
4 FMR1 FMR1, (CGG)n EXPANSION NT expansion Pathogenic
5 AFF2 NM_001169122.1(AFF2): c.-460_-458GCC(6_25) NT expansion Pathogenic rs193922937 GRCh37 Chromosome X, 147582158: 147582160
6 SERPINA1 NM_001127701.1(SERPINA1): c.1096G> A (p.Glu366Lys) single nucleotide variant Pathogenic rs28929474 GRCh37 Chromosome 14, 94844947: 94844947
7 AFF2 AFF2, 121- to 145-KB DEL deletion Pathogenic
8 FMR1 FMR1, SER27TER single nucleotide variant Pathogenic
9 FMR1 NM_002024.5(FMR1): c.-128_-126(200) NT expansion Pathogenic rs193922936 GRCh38 Chromosome X, 147912052: 147912054
10 FMR1 NC_000023.9: g.146703942_146820448del deletion Pathogenic NCBI36 Chromosome X, 146703942: 146820448
11 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
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:

36
# 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 62
Show member pathways
 11.66 GRIA1 GRM1 GRM5
3
RNA transport 36
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:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.77 FMR1 FXR1 GRIA1 GRM1 MAP1B
2 presynaptic membrane GO:0042734 9.58 FMR1 GRM1 GRM5
3 postsynaptic density GO:0014069 9.55 FMR1 GRIA1 GRM1 GRM5 MAP1B
4 postsynapse GO:0098794 9.5 FMR1 GRIA1 MECP2
5 somatodendritic compartment GO:0036477 9.48 GRIA1 MAP1B
6 filopodium tip GO:0032433 9.46 CYFIP1 FMR1
7 mRNA cap binding complex GO:0005845 9.43 CYFIP1 FMR1
8 polysome GO:0005844 9.43 FMR1 FXR1 FXR2
9 neuron projection GO:0043005 9.43 CYFIP1 FMR1 GRIA1 GRM1 GRM5 SLC6A4
10 dendritic spine GO:0043197 9.02 CYFIP1 FMR1 FXR1 GRIA1 MAP1B

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

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.62 GRIA1 GRM1 GRM5 MECP2
2 locomotory behavior GO:0007626 9.54 GRM1 GRM5 MECP2
3 positive regulation of gene silencing by miRNA GO:2000637 9.26 FMR1 FXR1
4 G-protein coupled glutamate receptor signaling pathway GO:0007216 9.16 GRM1 GRM5
5 adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway GO:0007196 8.96 GRM1 GRM5
6 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 9.56 FMR1 FXR1 FXR2 MECP2
2 siRNA binding GO:0035197 9.37 FMR1 MECP2
3 glutamate receptor activity GO:0008066 9.33 GRIA1 GRM1 GRM5
4 RNA strand annealing activity GO:0033592 9.32 FMR1 FXR1
5 G-quadruplex RNA binding GO:0002151 9.13 AFF2 FMR1 FXR1
6 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 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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