FXS
MCID: FRG001
MIFTS: 69

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 58 12 77 54 26 60 76 38 30 13 56 6 44 3 45 15 74
Martin-Bell Syndrome 58 12 54 26 60 76
Fxs 58 54 26 60 76 3
X-Linked Mental Retardation and Macroorchidism 58 77 54 26 76
Marker X Syndrome 58 12 54 26 76
Fraxa Syndrome 54 26 60 56 74
Fraxe Syndrome 54 26 56 74
Fragile X Mental Retardation Syndrome 58 12 76
Mental Retardation, X-Linked, Associated with Marxq28 58 76
Fragile Xe Syndrome 54 26
Fra Syndrome 54 26
Fraxe 30 6
Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 26
X-Linked Mental Retardation Associated with Fragile Site Fraxe 54
Symptomatic Form of Fragile X Syndrome in Female Carrier 60
Mental Retardation, X-Linked, Fraxe Type 26
Mental Retardation, Fragile-X Syndrome 41
Fraxe Mental Retardation Syndrome 26
Fragile Site, Folic Acid Type 54
Fraxe Intellectual Disability 26
Fraxe Intellectual Deficit 26
Frax Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
fragile x syndrome:
Onset and clinical course incomplete penetrance
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Fragile X Syndrome

MedlinePlus : 44 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 neurological speech impairment and chronic otitis media

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 : 26 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 : 54 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 : 58 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 : 76 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 : 77 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 168)
# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, associated with fragile site fraxe 34.5 AFF2 SERPINA1
2 fragile x tremor/ataxia syndrome 33.2 FMR1 FMR1-AS1 LOC108684022
3 autism 31.3 BDNF CYFIP1 FMR1 GRM5 MECP2 SLC6A4
4 autism spectrum disorder 31.1 BDNF FMR1 MECP2 SLC6A4
5 fragile x-associated tremor/ataxia syndrome 30.9 FMR1 GRM5 LOC108684022
6 depression 30.4 BDNF GRIA1 GRM1 SLC6A4
7 attention deficit-hyperactivity disorder 30.2 BDNF FMR1 GRM5 MECP2 SLC6A4
8 pervasive developmental disorder 29.9 BDNF FMR1 GRM5 MECP2 SLC6A4
9 schizophrenia 29.3 BDNF CYFIP1 GRIA1 GRM1 GRM5 MECP2
10 fragile x syndrome type 1 12.2
11 fragile x syndrome type 2 12.2
12 fragile x syndrome type 3 12.2
13 factor x deficiency 11.6
14 premature ovarian failure 1 11.6
15 bone fracture 11.3
16 childhood apraxia of speech 11.1
17 osteoporotic fracture 10.7
18 osteoporosis 10.7
19 down syndrome 10.6
20 bone mineral density quantitative trait locus 8 10.6
21 bone mineral density quantitative trait locus 15 10.6
22 anxiety 10.5
23 alacrima, achalasia, and mental retardation syndrome 10.4
24 epilepsy 10.4
25 baker-gordon syndrome 10.3
26 tremor 10.3
27 rheumatoid arthritis 10.3
28 x-linked hereditary ataxia 10.2 FMR1 GRM5
29 arthritis 10.2
30 blood group, gerbich system 10.2
31 williams-beuren syndrome 10.2
32 learning disability 10.2
33 glucosephosphate dehydrogenase deficiency 10.1
34 47, xxy 10.1
35 celiac disease 1 10.1
36 chronic kidney failure 10.1
37 kidney disease 10.1
38 colorectal cancer 10.1
39 prader-willi syndrome 10.1
40 cystic fibrosis 10.1
41 ataxia and polyneuropathy, adult-onset 10.1
42 pol iii-related leukodystrophies 10.1
43 spinal muscular atrophy 10.1
44 muscular atrophy 10.1
45 disease of mental health 10.1 BDNF FMR1 GRM5 MECP2 SLC6A4
46 central nervous system disease 10.0 BDNF GRM1 GRM5 SLC6A4
47 cognitive function 1, social 10.0
48 orthostatic intolerance 10.0
49 leukemia, acute lymphoblastic 10.0
50 leukemia 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

Human phenotypes related to Fragile X Syndrome:

60 33 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002167
2 chronic otitis media 60 33 hallmark (90%) Very frequent (99-80%) HP:0000389
3 macroorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000053
4 pes planus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001763
5 joint laxity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001388
6 intellectual disability, moderate 60 33 frequent (33%) Very frequent (99-80%) HP:0002342
7 folate-dependent fragile site at xq28 60 33 hallmark (90%) Very frequent (99-80%) HP:0003564
8 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
9 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
10 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
11 mandibular prognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000303
12 gastroesophageal reflux 60 33 frequent (33%) Frequent (79-30%) HP:0002020
13 sinusitis 60 33 frequent (33%) Frequent (79-30%) HP:0000246
14 attention deficit hyperactivity disorder 60 33 frequent (33%) Frequent (79-30%) HP:0007018
15 protruding ear 60 33 frequent (33%) Frequent (79-30%) HP:0000411
16 narrow face 60 33 frequent (33%) Frequent (79-30%) HP:0000275
17 long face 60 33 frequent (33%) Frequent (79-30%) HP:0000276
18 large forehead 60 33 frequent (33%) Frequent (79-30%) HP:0002003
19 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
20 self-injurious behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0100716
21 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
22 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
23 anxiety 60 33 occasional (7.5%) Occasional (29-5%) HP:0000739
24 cerebral cortical atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002120
25 mitral valve prolapse 60 33 occasional (7.5%) Occasional (29-5%) HP:0001634
26 ascending tubular aorta aneurysm 33 occasional (7.5%) HP:0004970
27 pectus excavatum 33 HP:0000767
28 scoliosis 33 HP:0002650
29 coarse facial features 33 HP:0000280
30 macrotia 33 HP:0000400
31 dilatation of the ascending aorta 60 Occasional (29-5%)
32 otitis media 60 Frequent (79-30%)
33 hyperactivity 33 HP:0000752
34 abnormal head movements 33 HP:0002457
35 poor eye contact 33 HP:0000817
36 macroorchidism, postpubertal 33 HP:0002050
37 periventricular heterotopia 33 HP:0007165
38 congenital macroorchidism 33 HP:0008640

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Fragile X Syndrome:


seizures, agitation

MGI Mouse Phenotypes related to Fragile X Syndrome:

47
# 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 104)
# 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,Phase 2 62-31-7, 51-61-6 681
4
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
5
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
6 Protective Agents Phase 4,Phase 3,Phase 2
7 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
8 Excitatory Amino Acid Antagonists Phase 4
9 Anticonvulsants Phase 4,Phase 2,Phase 3
10 Excitatory Amino Acids Phase 4
11 Neuroprotective Agents Phase 4,Phase 2
12 Lipid Regulating Agents Phase 4,Phase 2
13 L 647318 Phase 4,Phase 2
14 Antimetabolites Phase 4,Phase 2
15 Anticholesteremic Agents Phase 4,Phase 2
16 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 2
17 Dihydromevinolin Phase 4,Phase 2
18 Hypolipidemic Agents Phase 4,Phase 2
19 Psychotropic Drugs Phase 4,Phase 2
20 Dopamine Antagonists Phase 4,Phase 2
21 Serotonin Antagonists Phase 4,Phase 2
22 Neurotransmitter Uptake Inhibitors Phase 4,Phase 2
23 Dopamine Agents Phase 4,Phase 2
24 Tranquilizing Agents Phase 4,Phase 2
25 Antipsychotic Agents Phase 4,Phase 2
26 Serotonin Agents Phase 4,Phase 2
27 Central Nervous System Depressants Phase 4,Phase 2
28 Dopamine Uptake Inhibitors Phase 4
29 Central Nervous System Stimulants 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 54670067 5785
38 Tocotrienol Investigational Phase 3,Phase 2 6829-55-6
39 Vitamins Phase 3,Phase 2
40 Tocopherols Phase 3,Phase 2
41 Pharmaceutical Solutions Phase 3,Phase 2
42 Antioxidants Phase 3,Phase 2
43 Micronutrients Phase 3,Phase 2
44 Nutrients Phase 3,Phase 2
45 Trace Elements Phase 3,Phase 2
46 Tocotrienols Phase 3,Phase 2
47 Hypoglycemic Agents Phase 2, Phase 3
48 Epidiolex Phase 2, Phase 3,Phase 3
49
Sertraline Approved Phase 2 79617-96-2 68617
50 Strawberry Approved Phase 2

Interventional clinical trials:

(show top 50) (show all 81)
# 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 A Trial of Metformin in Individuals With Fragile X Syndrome Recruiting NCT03479476 Phase 2, Phase 3 Placebo Medication;Metformin
9 Clinical Study Of caNNabidiol in childrEn and adolesCenTs With Fragile X (CONNECT-FX) Recruiting NCT03614663 Phase 2, Phase 3 ZYN002 - CBD Transdermal Gel
10 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
11 Study of Acamprosate in Fragile x Syndrome Active, not recruiting NCT01911455 Phase 2, Phase 3 acamprosate;Placebo
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 "Using Epigallocatechin Gallate (EGCG) and Cognitive Training to Modulate Cognitive Performance in Patients With Fragile X Syndrome" (TESFX) Completed NCT01855971 Phase 2
32 Efficacy, Safety and Tolerability of AFQ056 in Fragile X Patients Completed NCT00718341 Phase 2 AF056;Placebo
33 Treatment of Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) With Allopregnanolone Completed NCT02603926 Phase 2 Allopregnanolone
34 Citocoline for Treatment of FXTAS Completed NCT02197104 Phase 2 citocoline
35 Metformin in Children and Adults With Fragile X Syndrome Recruiting NCT03722290 Phase 2 Metformin
36 A Study of OV101 in Individuals With Fragile X Syndrome Recruiting NCT03697161 Phase 2 OV101 (gaboxadol)
37 A 2-Period Crossover Study of BPN14770 in Adults Males With Fragile X Syndrome Recruiting NCT03569631 Phase 2 BPN14770;Placebo
38 Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome Recruiting NCT02616796 Phase 1, Phase 2
39 AFQ056 for Language Learning in Children With FXS Recruiting NCT02920892 Phase 2 AFQ056
40 Single-Dose Acamprosate, Lovastatin, Minocycline and Placebo in Fragile X Syndrome Enrolling by invitation NCT02998151 Phase 2 Acamprosate;Lovastatin;Minocycline;Placebo
41 A Trial of Metformin in Individuals With Fragile X Syndrome (Met) Not yet recruiting NCT03862950 Phase 2 Placebo Medication;Metformin
42 A Study to Assess the Tolerability of a Single Dose of STX107 in Adults With Fragile X Syndrome Suspended NCT01325740 Phase 2 STX107
43 An Open Label Extension Study of STX209 in Subjects With Fragile X Syndrome Terminated NCT01013480 Phase 2 Arbaclofen
44 Long-term, Safety, Tolerability and Efficacy Study of AFQ056 in Adult Patients With Fragile X Syndrome Terminated NCT01348087 Phase 2 AFQ056
45 Glutaminergic Transmission in Autism : Molecular Imaging Exploration Unknown status NCT02719951 Phase 1 [18F]FPEB PET imaging
46 Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts Unknown status NCT02567357 Phase 1
47 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
48 An Open-Label Trial of Donepezil in Fragile X Syndrome Completed NCT00220584 Phase 1 donepezil
49 Single Dose Pharmacokinetic (PK) Study Completed NCT03109756 Phase 1 OV101
50 A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107 Completed NCT00965432 Phase 1 STX107

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 30 FMR1
2 Fraxe 30 AFF2

Anatomical Context for Fragile X Syndrome

MalaCards organs/tissues related to Fragile X Syndrome:

42
Brain, Testes, Eye, Bone, Cortex, Amygdala, Kidney

Publications for Fragile X Syndrome

Articles related to Fragile X Syndrome:

(show top 50) (show all 2129)
# Title Authors Year
1
Differentiating social preference and social anxiety phenotypes in fragile X syndrome using an eye gaze analysis: a pilot study. ( 30665413 )
2019
2
Prevalence and Predictors of Anxiety Disorders in Adolescent and Adult Males with Autism Spectrum Disorder and Fragile X Syndrome. ( 30430320 )
2019
3
Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family. ( 31098807 )
2019
4
Emerging pharmacological therapies in fragile X syndrome and autism. ( 31045620 )
2019
5
A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum Disorders. ( 30897358 )
2019
6
Molecular Mechanisms of Synaptic Dysregulation in Fragile X Syndrome and Autism Spectrum Disorders. ( 30899214 )
2019
7
Language Performance in Preschool-Aged Boys with Nonsyndromic Autism Spectrum Disorder or Fragile X Syndrome. ( 30783899 )
2019
8
The use of demonstratives and personal pronouns in fragile X syndrome and autism spectrum disorder. ( 30346853 )
2019
9
Brain Penetrable Histone Deacetylase 6 Inhibitor SW-100 Ameliorates Memory and Learning Impairments in a Mouse Model of Fragile X Syndrome. ( 30511829 )
2019
10
Early Identification of Fragile X Syndrome through Expanded Newborn Screening. ( 30609779 )
2019
11
Local cortical circuit correlates of altered EEG in the mouse model of Fragile X syndrome. ( 30639292 )
2019
12
Closing the Gender Gap in Fragile X Syndrome: Review on Females with FXS and Preliminary Research Findings. ( 30642066 )
2019
13
Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in Fragile X Syndrome. ( 30653533 )
2019
14
Executive Function in Fragile X Syndrome: A Systematic Review. ( 30654486 )
2019
15
Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities. ( 30678024 )
2019
16
A Pilot Quantitative Evaluation of Early Life Language Development in Fragile X Syndrome. ( 30699903 )
2019
17
Early Predictors of Later Expressive Language in Boys With Fragile X Syndrome. ( 30715922 )
2019
18
A Description of the Educational Setting Among Individuals With Fragile X Syndrome. ( 30715925 )
2019
19
The Application of Adeno-Associated Viral Vector Gene Therapy to the Treatment of Fragile X Syndrome. ( 30717399 )
2019
20
Fragile X syndrome clinical trials: exploring parental decision-making. ( 30747463 )
2019
21
Pharmacological Reactivation of the Silenced FMR1 Gene as a Targeted Therapeutic Approach for Fragile X Syndrome. ( 30759772 )
2019
22
The Contribution of Pluripotent Stem Cell (PSC)-Based Models to the Study of Fragile X Syndrome (FXS). ( 30769941 )
2019
23
Prenatal diagnosis of Fragile X syndrome: small meiotic recombination events at the FMR1 locus. ( 30779209 )
2019
24
Dysregulated Ca2+-Permeable AMPA Receptor Signaling in Neural Progenitors Modeling Fragile X Syndrome. ( 30800064 )
2019
25
Neuroactive Steroids Reverse Tonic Inhibitory Deficits in Fragile X Syndrome Mouse Model. ( 30804752 )
2019
26
New Therapeutic Options for Fragile X Syndrome. ( 30809735 )
2019
27
Drosophila melanogaster as a Model to Study the Multiple Phenotypes, Related to Genome Stability of the Fragile-X Syndrome. ( 30815010 )
2019
28
Decisional Capacity for Informed Consent in Males and Females with Fragile X Syndrome. ( 30825084 )
2019
29
Modelling Protein Synthesis as A Biomarker in Fragile X Syndrome Patient-Derived Cells. ( 30862080 )
2019
30
Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents. ( 30879259 )
2019
31
Non-coding RNA in Fragile X Syndrome and Converging Mechanisms Shared by Related Disorders. ( 30881383 )
2019
32
Fragile X Syndrome: Introduction. ( 30900171 )
2019
33
Clinical Genetic Testing for Fragile X Syndrome by Polymerase Chain Reaction Amplification and Southern Blot Analyses. ( 30900172 )
2019
34
Application of Drosophila Model Toward Understanding the Molecular Basis of Fragile X Syndrome. ( 30900182 )
2019
35
Fragile X Syndrome Pre-Clinical Research: Comparing Mouse- and Human-Based Models. ( 30900183 )
2019
36
Handling FMRP and its molecular partners: Structural insights into Fragile X Syndrome. ( 30905341 )
2019
37
Telehealth Delivery of Function-Based Behavioral Treatment for Problem Behaviors Exhibited by Boys with Fragile X Syndrome. ( 30937736 )
2019
38
Treatment of Fragile X Syndrome with Cannabidiol: A Case Series Study and Brief Review of the Literature. ( 30944868 )
2019
39
Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India. ( 30954995 )
2019
40
Single-Cell and Neuronal Network Alterations in an In Vitro Model of Fragile X Syndrome. ( 30958540 )
2019
41
A phase 1, randomized double-blind, placebo controlled trial to evaluate safety and efficacy of epigallocatechin-3-gallate and cognitive training in adults with Fragile X syndrome. ( 30962103 )
2019
42
Altered steady state and activity-dependent de novo protein expression in fragile X syndrome. ( 30979884 )
2019
43
Cognitive training for children and adolescents with fragile X syndrome: a randomized controlled trial of Cogmed. ( 30982467 )
2019
44
Design and Synthesis of Selective Phosphodiesterase 4D (PDE4D) Allosteric Inhibitors for the Treatment of Fragile X Syndrome and Other Brain Disorders. ( 31013090 )
2019
45
The Persistence of Self-injurious and Aggressive Behavior in Males with Fragile X Syndrome Over 8 Years: A Longitudinal Study of Prevalence and Predictive Risk Markers. ( 31020491 )
2019
46
Molecular Biomarkers in Fragile X Syndrome. ( 31035599 )
2019
47
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features. ( 31073396 )
2019
48
Living with Fragile X syndrome. ( 31101619 )
2019
49
Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin-two cases. ( 31104364 )
2019
50
Friendships and social participation as markers of quality of life of adolescents and adults with fragile X syndrome and autism. ( 29232961 )
2019

Variations for Fragile X Syndrome

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

76
# 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 25)
# 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 NM_002024.5(FMR1): c.373del (p.Thr125Leufs) deletion Pathogenic GRCh38 Chromosome X, 147928761: 147928761
4 FMR1 NM_002024.5(FMR1): c.373del (p.Thr125Leufs) deletion Pathogenic GRCh37 Chromosome X, 147010279: 147010279
5 FMR1 NM_002024.5(FMR1): c.52-1_52delinsTA indel Pathogenic rs1557176576 GRCh37 Chromosome X, 147003450: 147003451
6 FMR1 NM_002024.5(FMR1): c.52-1_52delinsTA indel Pathogenic rs1557176576 GRCh38 Chromosome X, 147921932: 147921933
7 FMR1 FMR1, (CGG)n EXPANSION NT expansion Pathogenic
8 AFF2 NM_001169122.1(AFF2): c.-460_-458GCC(6_25) NT expansion Pathogenic rs193922937 GRCh37 Chromosome X, 147582158: 147582160
9 AFF2 NM_001169122.1(AFF2): c.-460_-458GCC(6_25) NT expansion Pathogenic rs193922937 GRCh38 Chromosome X, 148500638: 148500640
10 SERPINA1 NM_001127701.1(SERPINA1): c.1096G> A (p.Glu366Lys) single nucleotide variant Pathogenic rs28929474 GRCh37 Chromosome 14, 94844947: 94844947
11 SERPINA1 NM_001127701.1(SERPINA1): c.1096G> A (p.Glu366Lys) single nucleotide variant Pathogenic rs28929474 GRCh38 Chromosome 14, 94378610: 94378610
12 FMR1 NM_002024.5(FMR1): c.80C> A (p.Ser27Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 147921961: 147921961
13 FMR1 NM_002024.5(FMR1): c.80C> A (p.Ser27Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 147003479: 147003479
14 AFF2 AFF2, 121- to 145-KB DEL deletion Pathogenic
15 AFF2 NM_002025.3(AFF2): c.1830G> C (p.Leu610Phe) single nucleotide variant Uncertain significance rs200450195 GRCh37 Chromosome X, 148037405: 148037405
16 AFF2 NM_002025.3(AFF2): c.1830G> C (p.Leu610Phe) single nucleotide variant Uncertain significance rs200450195 GRCh38 Chromosome X, 148955875: 148955875
17 FMR1 NM_002024.5(FMR1): c.-128_-126(200) NT expansion Pathogenic rs193922936 GRCh38 Chromosome X, 147912052: 147912054
18 FMR1 NM_002024.5(FMR1): c.-128_-126(200) NT expansion Pathogenic rs193922936 GRCh37 Chromosome X, 146993570: 146993572
19 FMR1 NC_000023.9: g.146703942_146820448del deletion Pathogenic NCBI36 Chromosome X, 146703942: 146820448
20 AFF2 NM_001169124.1(AFF2): c.*4554C> G single nucleotide variant Uncertain significance rs864321652 GRCh37 Chromosome X, 148077416: 148077416
21 AFF2 NM_001169124.1(AFF2): c.*4554C> G single nucleotide variant Uncertain significance rs864321652 GRCh38 Chromosome X, 148995886: 148995886
22 ADGB; GRM1; LOC101928661; RAB32 NC_000006.12: g.146414070_146715778del301709 deletion Pathogenic GRCh37 Chromosome 6, 146735206: 147036914
23 ADGB; GRM1; LOC101928661; RAB32 NC_000006.12: g.146414070_146715778del301709 deletion Pathogenic GRCh38 Chromosome 6, 146414070: 146715778
24 FMR1 NM_002024.5(FMR1): c.-128GGC[> 200] undetermined variant Pathogenic
25 AFF2 GRCh37/hg19 Xq28(chrX: 147642893-147870805) copy number loss Pathogenic GRCh37 Chromosome X, 147642893: 147870805

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:

38
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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