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FXS
MCID: FRG001
MIFTS: 70

Fragile X Syndrome (FXS)

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

About this section

MalaCards integrated aliases for Fragile X Syndrome:

Name: Fragile X Syndrome 57 12 74 20 43 58 73 36 29 13 54 6 42 3 44 15 71
Martin-Bell Syndrome 57 12 20 43 58 73
Fxs 57 20 43 58 73 3
X-Linked Mental Retardation and Macroorchidism 57 74 20 43 73
Marker X Syndrome 57 12 20 43 73
Fraxa Syndrome 20 43 58 54 71
Fraxe Syndrome 20 43 54 71
Fragile X Mental Retardation Syndrome 57 12 73
Mental Retardation, X-Linked, Associated with Marxq28 57 73
Fragile Xe Syndrome 20 43
Fra Syndrome 20 43
Fraxe 29 6
Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 43
X-Linked Mental Retardation Associated with Fragile Site Fraxe 20
Symptomatic Form of Fragile X Syndrome in Female Carrier 58
Mental Retardation, X-Linked, Fraxe Type 43
Fraxe Mental Retardation Syndrome 43
Fragile Site, Folic Acid Type 20
Fraxe Intellectual Disability 43
Fraxe Intellectual Deficit 43
Syndrome, Fragile-X 39
Frax Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Mar-2021)
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: Neuronal diseases Eye diseases Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
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 Genetics : 43 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.Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behavior such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of individuals with fragile X syndrome have features of autism spectrum disorder that affect communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome.Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet, and in males, enlarged testicles (macroorchidism) after puberty.

MalaCards based summary : Fragile X Syndrome, also known as martin-bell syndrome, is related to fragile x tremor/ataxia syndrome and fmr1 disorders, and has symptoms including seizures and agitation. An important gene associated with Fragile X Syndrome is FMR1 (FMRP Translational Regulator 1), and among its related pathways/superpathways are RNA transport and Translational Control. The drugs Ethanol and Riluzole have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related phenotypes are neurological speech impairment and chronic otitis media

Disease Ontology : 12 A syndrome 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.

GARD : 20 Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. This condition causes a range of developmental problems including learning disabilities and cognitive impairment. It is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females. Other signs and symptoms may include symptoms of autism spectrum disorders, seizures, and characteristic physical features. Fragile X syndrome is caused by a change (mutation) in the FMR1 gene and is inherited in an X-linked dominant manner. 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) (Updated 05-Mar-2021)

MedlinePlus : 42 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

CDC : 3 Fragile X syndrome (FXS) is one of the most common causes of inherited intellectual disability. CDC is working to learn more about fragile X syndrome and fragile X-associated disorders to improve the health and well-being of people with these conditions.

KEGG : 36 Fragile X syndrome (FXS) is a cognitive disorder caused by silencing of the fragile X mental retardation 1 gene (FMR1). Absence of the associated protein FMRP leads to the dysregulation of many genes creating a phenotype of ADHD, anxiety, epilepsy and autism.There are also several physical features commonly associated with FXS, including elongated faces, prominent ears, and macroorchidism. The most prevalent genetic aberration at the FMR1 locus arises from a noncoding CGG repeat in the 5'untranslated region.

UniProtKB/Swiss-Prot : 73 Fragile X syndrome: An 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 : 74 Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual... more...

Sources

Related Diseases for Fragile X Syndrome

About this section

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 306)
# Related Disease Score Top Affiliating Genes
1 fragile x tremor/ataxia syndrome 33.2 FRAXA FMR1-AS1 FMR1
2 fmr1 disorders 32.7 FRAXA FMR1
3 autism 32.4 SLC6A4 MECP2 MAP1B GRM5 GRIA1 FXR2
4 autism spectrum disorder 32.4 SLC6A4 MECP2 MAP1B FMR1 BDNF AFF2
5 fragile x-associated tremor/ataxia syndrome 31.9 GRM5 FRAXA FMR1-AS1 FMR1
6 anxiety 31.7 SLC6A4 GRIA1 FMR1 BDNF
7 attention deficit-hyperactivity disorder 31.7 SLC6A4 MECP2 MAP1B GRM5 FMR1 BDNF
8 pervasive developmental disorder 31.6 SLC6A4 MECP2 GRM5 GRIA1 FMR1 EIF4E
9 rett syndrome 31.3 MECP2 GRM5 GRIA1 BDNF
10 social phobia 31.2 SLC6A4 FMR1 BDNF
11 epilepsy 31.2 MECP2 GRM5 GRM1 GRIA1 CYFIP1 BDNF
12 prader-willi syndrome 31.1 MECP2 FMR1 CYFIP1 BDNF
13 huntington disease 31.1 GRM5 GRM1 GRIA1 FMR1 BDNF
14 depression 30.9 SLC6A4 GRM1 GRIA1 BDNF
15 fibromyalgia 30.9 SLC6A4 SERPINA1 FMR1 BDNF
16 bipolar disorder 30.9 SLC6A4 MECP2 GRM5 GRM1 GRIA1 BDNF
17 status epilepticus 30.9 GRM5 GRIA1 BDNF
18 sleep disorder 30.9 SLC6A4 MECP2 BDNF
19 asperger syndrome 30.8 SLC6A4 MECP2 BDNF
20 phobia, specific 30.7 SLC6A4 FMR1 BDNF
21 phelan-mcdermid syndrome 30.7 MECP2 GRM5 GRIA1 FMR1
22 migraine with or without aura 1 30.7 SLC6A4 GRM5 GRIA1 FMR1 BDNF
23 psychotic disorder 30.7 SLC6A4 GRM5 GRM1 GRIA1 BDNF
24 spinocerebellar ataxia 1 30.7 FRAXA FMR1 AFF2
25 mental depression 30.7 SLC6A4 GRIA1 BDNF
26 central nervous system disease 30.7 SLC6A4 GRM5 GRM1 BDNF
27 restless legs syndrome 30.7 SLC6A4 SERPINA1 FRAXA FMR1
28 mental retardation, x-linked, associated with fragile site fraxe 30.6 SERPINA1 AFF2
29 disease of mental health 30.6 SLC6A4 SERPINA1 MECP2 MAP1B GRM5 GRM1
30 temporal lobe epilepsy 30.5 GRM5 GRM1 BDNF
31 premature menopause 11.3
32 fragile x syndrome type 1 11.2
33 fragile x syndrome type 2 11.2
34 fragile x syndrome type 3 11.2
35 alacrima, achalasia, and mental retardation syndrome 11.2
36 cherubism 11.1
37 childhood apraxia of speech 11.0
38 down syndrome 10.9
39 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.8
40 ataxia and polyneuropathy, adult-onset 10.8
41 tremor 10.7
42 learning disability 10.7
43 abnormal hair, joint laxity, and developmental delay 10.6
44 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.6
45 x-linked hereditary ataxia 10.6 GRM5 FXR2 FMR1-AS1 FMR1
46 childhood disintegrative disease 10.6 MECP2 FMR1 BDNF
47 gene duplication disease 10.6 MECP2 FMR1 BDNF
48 kagami-ogata syndrome 10.6 SLC6A4 MECP2 GRM5 GRIA1 FMR1 BDNF
49 phobic disorder 10.6 SLC6A4 FMR1 BDNF
50 retrograde amnesia 10.6 SLC6A4 GRIA1 BDNF

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

About this section

Human phenotypes related to Fragile X Syndrome:

58 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
2 chronic otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000389
3 macroorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000053
4 pes planus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001763
5 joint laxity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001388
6 intellectual disability, moderate 58 31 frequent (33%) Very frequent (99-80%) HP:0002342
7 folate-dependent fragile site at xq28 58 31 hallmark (90%) Very frequent (99-80%) HP:0003564
8 macrocephaly 58 31 occasional (7.5%) Frequent (79-30%) HP:0000256
9 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
10 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
11 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
12 sinusitis 58 31 frequent (33%) Frequent (79-30%) HP:0000246
13 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
14 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
15 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
16 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
17 large forehead 58 31 frequent (33%) Frequent (79-30%) HP:0002003
18 intellectual disability 31 frequent (33%) HP:0001249
19 delayed speech and language development 31 frequent (33%) HP:0000750
20 thick vermilion border 31 frequent (33%) HP:0012471
21 short stature 31 frequent (33%) HP:0004322
22 intrauterine growth retardation 31 frequent (33%) HP:0001511
23 specific learning disability 31 frequent (33%) HP:0001328
24 epicanthus 31 frequent (33%) HP:0000286
25 obsessive-compulsive behavior 31 frequent (33%) HP:0000722
26 prominent nasal bridge 31 frequent (33%) HP:0000426
27 hoarse voice 31 frequent (33%) HP:0001609
28 clumsiness 31 frequent (33%) HP:0002312
29 autistic behavior 31 frequent (33%) HP:0000729
30 aggressive behavior 31 frequent (33%) HP:0000718
31 hyperactivity 31 frequent (33%) HP:0000752
32 impulsivity 31 frequent (33%) HP:0100710
33 agitation 31 frequent (33%) HP:0000713
34 recurrent hand flapping 31 frequent (33%) HP:0100023
35 prominent ear helix 31 frequent (33%) HP:0009904
36 hypotonia 31 frequent (33%) HP:0001252
37 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
38 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
39 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
40 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
41 mitral valve prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0001634
42 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
43 clinodactyly of the 5th finger 31 occasional (7.5%) HP:0004209
44 ascending tubular aorta aneurysm 31 occasional (7.5%) HP:0004970
45 stereotypical body rocking 31 occasional (7.5%) HP:0012172
46 seizure 31 occasional (7.5%) HP:0001250
47 seizures 58 Occasional (29-5%)
48 scoliosis 31 HP:0002650
49 muscular hypotonia 58 Frequent (79-30%)
50 coarse facial features 31 HP:0000280

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Head:
macrocephaly

Skeletal Spine:
scoliosis

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Cardiovascular Heart:
mitral valve prolapse

Laboratory Abnormalities:
folate-dependent fragile site at xq28

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

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

Skeletal Feet:
pes planus

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 (Updated 05-Mar-2021)

UMLS symptoms related to Fragile X Syndrome:


seizures, agitation

GenomeRNAi Phenotypes related to Fragile X Syndrome according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.55 GRM5
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 9.55 EIF4E
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-12 9.55 FXR2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 9.55 FXR2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.55 GRM5
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.55 EIF4E
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-146 9.55 EIF4E
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.55 GRM5
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.55 FXR2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 9.55 EIF4E
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-170 9.55 EIF4E
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.55 EIF4E
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.55 FXR2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.55 FXR2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.55 EIF4E
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.55 FXR2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.55 GRM5

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 9.9 BDNF FMR1 FXR2 GRIA1 GRM1 GRM5
3 nervous system MP:0003631 9.7 BDNF CYFIP1 FMR1 FXR2 GRIA1 GRM1
4 reproductive system MP:0005389 9.28 BDNF FMR1 FXR1 FXR2 GRM1 GRM5
Sources

Drugs & Therapeutics for Fragile X Syndrome

About this section

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

(show top 50) (show all 95)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
5
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
6
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
7 Protective Agents Phase 4
8 Anticonvulsants Phase 4
9 Neuroprotective Agents Phase 4
10 Excitatory Amino Acid Antagonists Phase 4
11 Neurotransmitter Agents Phase 4
12 Psychotropic Drugs Phase 4
13 Dopamine Antagonists Phase 4
14 Dopamine Agents Phase 4
15 Antipsychotic Agents Phase 4
16 Dopamine Uptake Inhibitors Phase 4
17 Central Nervous System Stimulants Phase 4
18
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
19
Tocopherol Approved, Investigational Phase 3 1406-66-2
20
Baclofen Approved Phase 3 1134-47-0 2284
21
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
22
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
23
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
24 Tocotrienol Investigational Phase 3 6829-55-6
25 Vitamins Phase 3
26 Nutrients Phase 3
27 Micronutrients Phase 3
28 Antioxidants Phase 3
29 Trace Elements Phase 3
30 Tocotrienols Phase 3
31 Tocopherols Phase 3
32 Pharmaceutical Solutions Phase 3
33 GABA Agonists Phase 3
34 Hypoglycemic Agents Phase 2, Phase 3
35 Epidiolex Phase 2, Phase 3
36
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
37
Donepezil Approved Phase 2 120014-06-4 3152
38
Sertraline Approved Phase 2 79617-96-2 68617
39
Aripiprazole Approved, Investigational Phase 2 129722-12-9 60795
40 Strawberry Approved Phase 2
41
Acamprosate Approved, Investigational Phase 2 77337-76-9 71158
42
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
43
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
44
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
45
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
46
Metadoxine Experimental Phase 2 74536-44-0
47
Gaboxadol Investigational Phase 2 64603-91-4 3448
48 Vitamin B 6 Phase 2
49 Cholinergic Agents Phase 2
50 Cholinesterase Inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 86)
# Name Status NCT ID Phase Drugs
1 Combining Lovastatin and a Parent-Implemented Language Intervention in a Multimodal Treatment for Fragile X Syndrome Completed NCT02642653 Phase 4 Lovastatin
2 Riluzole in Fragile X Syndrome: A Pilot Study Incorporating Biomarker Assay Completed NCT00895752 Phase 4 Riluzole
3 Falls and Cardiovascular Events in Elderly Patients With Sinus Node Disease Treated With a MVPTM Pacemaker According to the ESC 2007 Guidelines Completed NCT01037426 Phase 4
4 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
5 Clinical Trials Phase III, Double Blind, Crossover to 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
6 A Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy, Safety, and Tolerability of STX209 (Arbaclofen) Administered for the Treatment of Social Function in Adolescents and Adults With Fragile X Syndrome Completed NCT01282268 Phase 3 arbaclofen;placebo
7 A Randomized, Double-Blind, Placebo-Controlled, Fixed-Dose Study of the Efficacy, Safety, and Tolerability of STX209 (Arbaclofen) Administered for the Treatment of Social Function in Children With Fragile X Syndrome Completed NCT01325220 Phase 3 arbaclofen;arbaclofen;arbaclofen;Placebo
8 A Randomized, Double-Blind, Placebo-Controlled Multiple-Center, Efficacy and Safety Study of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With Fragile X Syndrome Completed NCT03614663 Phase 2, Phase 3 ZYN002 - CBD Transdermal Gel
9 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome Recruiting NCT03479476 Phase 2, Phase 3 Placebo Medication;Metformin
10 An Open-Label Extension Study to Assess the Long-Term Safety and Tolerability of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With Fragile X Syndrome - CONNECT-FX Open Label Extension (OLE) Recruiting NCT03802799 Phase 2, Phase 3 ZYN002 - CBD Transdermal Gel
11 An Open-label Study to Evaluate the Long-term Safety and Tolerability of AFQ056 in Adolescent Patients With Fragile X Syndrome Terminated NCT01433354 Phase 2, Phase 3 AFQ056
12 An Open-Label Extension Study to Evaluate the Safety, Tolerability, and Pharmacokinetics in Subject With Fragile X Syndrome Terminated NCT01555333 Phase 3 arbaclofen
13 A Controlled, Double-blind, Crossover Trial of Ganaxolone in Children With Fragile X Syndrome Completed NCT01725152 Phase 2 Ganaxolone;Placebo
14 A 6-week, Randomized, Multicenter, Double-blind, Parallel, Flexed and Fixed-dose Study of MG01CI (Metadoxine Extended-release) Low Dose and High Dose Compared With Placebo in Adults and Adolescents With Fragile X Syndrome Completed NCT02126995 Phase 2 MG01CI extended-release tablet
15 A Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate AFQ056 in Adult Patients With Fragile X Syndrome Completed NCT01253629 Phase 2 AFQ056;Placebo
16 Phase II Double-blind Randomized Placebo-controlled 1-way Crossover Trial to Investigate Safety and Efficacy of the Ascorbic Acid and Tocopherol for the Treatment of the Fragile X Syndrome Completed NCT01329770 Phase 2
17 Double-blind Placebo Controlled Study of Oxytocin in Fragile X Syndrome Completed NCT01254045 Phase 2 placebo;oxytocin 24IU;oxytocin 48IU
18 A Pilot Study Exploring the Safety and Synergistic Effect of a Minocycline/Lovastatin Combined Treatment on the Behavior of Individuals With Fragile X Syndrome; Validation of New Biochemical and Neurophysiological Markers (LovaMiX) Completed NCT02680379 Phase 2 Minocycline, then Minocycline/Lovastatin;Lovastatin, then Minocycline/Lovastatin
19 A Randomized, Double-blind, Placebo-controlled, 2-period Crossover Study of BPN14770 in Adult Males With Fragile X Syndrome Completed NCT03569631 Phase 2 BPN14770;Placebo
20 Augmentation of the Cholinergic System in Fragile X Syndrome: A Double-Blind Placebo-Controlled Randomized Study of Donepezil Completed NCT01120626 Phase 2 donepezil;sugar pill
21 Effects of Ampakine CX516 (Ampalex®) on Functioning in Fragile X Syndrome and Autism Completed NCT00054730 Phase 2 CX516 (Ampalex®)
22 A Controlled Trial of Sertraline in Young Children With Fragile X Syndrome Completed NCT01474746 Phase 2 Sertraline;Placebo
23 A Multi-centre, Randomized, Double-blind, Placebo Controlled, Two-period, Crossover Proof-of-concept Study in Male Patients With Fragile X Syndrome to Assess the Efficacy, Safety and Tolerability of Multiple Oral Doses of AFQ056 Completed NCT00718341 Phase 2 AF056;Placebo
24 A Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate the Efficacy and Safety of AFQ056 in Adolescent Patients With Fragile X Syndrome Completed NCT01357239 Phase 2 AFQ056;Placebo
25 Pilot Study of Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 2 Acamprosate
26 Aripiprazole in Fragile X Syndrome Completed NCT00420459 Phase 2 Aripiprazole
27 A Randomized, Double-blind, Placebo-controlled, Pharmacokinetic, Safety and Tolerability, and Exploratory Efficacy and Pharmacodynamic Effects Study of RO4917523 in Adult Patients With Fragile X Syndrome. Completed NCT01015430 Phase 2 Placebo (for RO4917523 ascending doses);Placebo (for RO4917523 fixed dose);RO4917523;RO4917523
28 Estrogen Receptors Beta (ER-B) as Therapeutic Targets for the Improvement of Cognitive Performance in Fragile-X (TESXF) Completed NCT01855971 Phase 2
29 A Randomized, Parallel Group, Double-Blind, Placebo-Controlled, Safety and Exploratory Efficacy and Pharmacokinetic, Study of RO4917523 in Pediatric Patients With Fragile X Syndrome Completed NCT01750957 Phase 2 Placebo;RO4917523;RO4917523
30 An Open Label Exploratory Study to Investigate the Safety and Effects of NPL-2009 ( 50 mg - 150 mg Single Dose) on Prepulse Inhibition Tests and Continuous Performance Tasks, in Adults With Fragile X Syndrome Completed NCT00637221 Phase 1, Phase 2 NPL-2009
31 A Randomized, Double-blind, 12-week, Parallel Group, Placebo-controlled Study of Efficacy and Safety of RO4917523 in Patients With Fragile X Syndrome. Completed NCT01517698 Phase 2 Placebo;RO4917523 0.5 mg;RO4917523 1.5 mg
32 A Double-Blind, Placebo-Controlled, Crossover, Flexible-Dose Evaluation of the Efficacy, Safety and Tolerability of STX209 in the Treatment of Irritability in Subjects With Fragile X Syndrome Completed NCT00788073 Phase 2 STX209;Placebo
33 A Phase 2, Randomized, Double-Blind, Parallel-Group Study Evaluating the Safety, Tolerability, and Efficacy of OV101 in Fragile X Syndrome Completed NCT03697161 Phase 2 OV101 (gaboxadol)
34 A Phase II Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Fixed-Dose Study of NNZ-2566 in Fragile X Syndrome Completed NCT01894958 Phase 2 NNZ-2566;Placebo
35 Evaluate the Efficacy and Safety of Metformin in Children and Adults With Fragile X Syndrome: an Open-label Study Completed NCT03722290 Phase 2 Metformin
36 Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome Recruiting NCT02616796 Phase 1, Phase 2
37 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome (FXS) Recruiting NCT03862950 Phase 2 Placebo Medication;Metformin
38 A Parallel Group Design Randomized Double-Blind Trial of Metformin Treatment in Patients With Fragile X Syndrome on Safety and Effects on Cognition, Anxiety, Attention and Biomarkers Recruiting NCT04141163 Phase 1, Phase 2 Metformin;Placebo oral tablet
39 Effects of AFQ056 on Language Learning in Young Children With Fragile X Syndrome (FXS) Active, not recruiting NCT02920892 Phase 2 AFQ056
40 Evaluating the Neurophysiologic and Clinical Effects of Single-Dose Acamprosate, Lovastatin, Minocycline and Placebo in Fragile X Syndrome Enrolling by invitation NCT02998151 Phase 2 Acamprosate;Lovastatin;Minocycline;Placebo
41 A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of a Single Dose of STX107 in Adults With Fragile X Syndrome Suspended NCT01325740 Phase 2 STX107
42 An Open Label Extension Study to Evaluate the Safety, Tolerability and Pharmacokinetics of STX209 in Subjects With Fragile X Syndrome Terminated NCT01013480 Phase 2 Arbaclofen
43 An Open-label Study to Evaluate the Long-term Safety, Tolerability and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome Terminated NCT01348087 Phase 2 AFQ056
44 Double-Blind, Placebo-Controlled Proof of Concept Study in Youth With Fragile X Syndrome Completed NCT01911455 Phase 1 acamprosate;Placebo
45 An Open-Label Trial of Donepezil in Fragile X Syndrome Completed NCT00220584 Phase 1 donepezil
46 Sequential, Two-period Study to Assess the Pharmacokinetics, Safety & Tolerability of Single and Multiple Oral Doses of AFQ056 in Patients With FXS (Fragile X Syndrome) Aged 5-11 Years (Cohort 1) and 3-4 Years (Cohort 2) Completed NCT01482143 Phase 1 AFQ056
47 An Initial Double-Blind, Placebo-Controlled Two-Dose Crossover Study of AZD7325 in Adults With Fragile X Syndrome Completed NCT03140813 Phase 1 AZD7325 (High-Dose);AZD7325 (Low-Dose);Placebo oral capsule
48 A Single-Dose, Randomized, Double-Blind, Placebo-Controlled, Dose-Escalation Study in Healthy, Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107 Completed NCT00965432 Phase 1 STX107
49 Glutaminergic Transmission in Autism : Molecular Imaging Exploration Completed NCT02719951 Phase 1 [18F]FPEB PET imaging
50 Evaluation of [18F]PEB and Positron Emission Tomography (PET) as a Marker of mGluR5 in Subjects w/ Neuropsychiatric Conditions Completed NCT00870974 Phase 1 [18F]FPEB

Search NIH Clinical Center for Fragile X Syndrome

Cochrane evidence based reviews: fragile x syndrome

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Genetic Tests for Fragile X Syndrome

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Genetic tests related to Fragile X Syndrome:

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

Anatomical Context for Fragile X Syndrome

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MalaCards organs/tissues related to Fragile X Syndrome:

40
Brain, Eye, Cortex, Amygdala, Bone, Prefrontal Cortex, Cerebellum
Sources

Publications for Fragile X Syndrome

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Articles related to Fragile X Syndrome:

(show top 50) (show all 4956)
# Title Authors PMID Year
1
A point mutation in the FMR-1 gene associated with fragile X mental retardation. 61 57 6 54
8490650 1993
2
A nonsense mutation in FMR1 causing fragile X syndrome. 61 57 6
21267007 2011
3
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. 57 6 61
8334699 1993
4
Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development. 6 57 61
1605193 1992
5
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. 61 6 57
1675488 1991
6
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. 57 6
11445641 2001
7
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. 57 61 54
19804849 2009
8
Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP). 57 61 54
17932962 2008
9
Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome. 61 57 54
16055059 2005
10
Noninvasive test for fragile X syndrome, using hair root analysis. 61 54 57
10364521 1999
11
FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association. 6 61 54
9659908 1997
12
Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. 6 54 61
7670500 1995
13
Absence of expression of the FMR-1 gene in fragile X syndrome. 54 61 57
1878973 1991
14
Cholesterol levels in fragile X syndrome. 57 61
25424470 2015
15
Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan. 61 57
24478267 2014
16
Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome. 61 57
24578575 2014
17
Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. 61 57
22001913 2012
18
Fragile X syndrome: from molecular genetics to therapy. 57 61
19724010 2009
19
No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50. 57 61
19026394 2008
20
Tdrd3 is a novel stress granule-associated protein interacting with the Fragile-X syndrome protein FMRP. 61 6
18664458 2008
21
Fragile X syndrome with anxiety disorder and exceptional verbal intelligence. 61 57
18203169 2008
22
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy. 57 61
17971832 2008
23
Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. 61 57
17166801 2007
24
Periventricular heterotopia in fragile X syndrome. 57 61
16924033 2006
25
A cryptic full mutation in a male with a classical fragile X phenotype. 61 57
16813602 2006
26
No evidence of paternal transmission of fragile X syndrome. 57 61
15887276 2005
27
Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes. 61 6
15805463 2005
28
Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France. 57 61
15326620 2004
29
Paternal transmission of fragile X syndrome. 57 61
15316964 2004
30
Clinical features of boys with fragile X premutations and intermediate alleles. 57 61
12898586 2003
31
Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis. 61 57
12746404 2003
32
Prevalence of the fragile X syndrome in African-Americans. 57 61
12116230 2002
33
Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. 57 61
11854169 2002
34
Analysis of FMR1 (CGG)(n) alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia. 61 57
11571563 2001
35
Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. 61 57
11443541 2001
36
Problems in the diagnosis of fragile X syndrome in young children are still present. 61 57
11298371 2001
37
Unilateral macroorchidism in fragile X syndrome. 61 57
11146477 2000
38
Melatonin profiles and sleep characteristics in boys with fragile X syndrome: a preliminary study. 61 57
11186882 2000
39
Cognitive and behavioral profile of fragile X boys: correlations to molecular data. 61 57
11078566 2000
40
Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males. 61 57
10842286 2000
41
Absence of fragile X syndrome in Nova Scotia. 57 61
10691418 2000
42
Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia. 61 57
10573009 1999
43
Compound heterozygous female with fragile X syndrome. 57 61
10208169 1999
44
FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome. 57 61
9916838 1999
45
Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome. 61 57
9490298 1998
46
Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients. 57 61
9254854 1997
47
Fragile X syndrome occurs in the South African black population. 57 61
9254780 1997
48
Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique. 61 57
9050914 1997
49
Fragile X syndrome is less common than previously estimated. 61 57
9032640 1997
50
A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion. 57 61
8792815 1996
Sources

Variations for Fragile X Syndrome

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ClinVar genetic disease variations for Fragile X Syndrome:

6 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FMR1 NC_000023.10:g.146993570GGC[(55_200)] Microsatellite other 973208
2 FMR1 NC_000023.10:g.146993570GGC[(45_54)] Microsatellite other 973209
3 AFF2 NM_002025.4(AFF2):c.3448G>T (p.Asp1150Tyr) SNV Pathogenic 975105 X:148059506-148059506 X:148977976-148977976
4 SERPINA1 NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) SNV Pathogenic 17967 rs28929474 14:94844947-94844947 14:94378610-94378610
5 FMR1-AS1 NM_002024.5(FMR1):c.-128GGC[(200_?)] Microsatellite Pathogenic 623468 X:146993570-146993570
6 AFF2 AFF2, 121- to 145-KB DEL Deletion Pathogenic 29983
7 AFF2 NM_001169122.1(AFF2):c.-460_-458GCC(6_25) Microsatellite Pathogenic 10526 X:147582158-147582160 X:148500638-148500640
8 AFF2 GRCh37/hg19 Xq28(chrX:147642893-147870805) copy number loss Pathogenic 625801 X:147642893-147870805
9 FMR1 NM_002024.6(FMR1):c.911T>A (p.Ile304Asn) SNV Pathogenic 9969 rs121434622 X:147018053-147018053 X:147936534-147936534
10 FMR1 NM_002024.6(FMR1):c.373del (p.Thr125fs) Deletion Pathogenic 9970 rs1569545562 X:147010279-147010279 X:147928761-147928761
11 FMR1 NM_002024.5(FMR1):c.52-1_52delinsTA Indel Pathogenic 9971 rs1557176576 X:147003450-147003451 X:147921932-147921933
12 FMR1 FMR1, (CGG)n REPEAT EXPANSION Microsatellite Pathogenic 9972
13 FMR1 NM_002024.6(FMR1):c.80C>A (p.Ser27Ter) SNV Pathogenic 29987 rs1569545382 X:147003479-147003479 X:147921961-147921961
14 FMR1 NM_002024.5(FMR1):c.-128_-126(200) Microsatellite Pathogenic 183387 rs193922936 X:146993570-146993572 X:147912049-147912050
15 FMR1 NC_000023.9:g.146703942_146820448del Deletion Pathogenic 183388
16 RAB32 NC_000006.11:g.146735206_147036914del301709 Deletion Pathogenic 242923 6:146735206-147036914 6:146414070-146715778
17 AFF2 NM_002025.4(AFF2):c.*4554C>G SNV Uncertain significance 219173 rs864321652 X:148077416-148077416 X:148995886-148995886
18 AFF2 NM_002025.4(AFF2):c.2558G>A (p.Arg853His) SNV Uncertain significance 982732 X:148038133-148038133 X:148956603-148956603
19 AFF2 NM_002025.4(AFF2):c.1830G>C (p.Leu610Phe) SNV Uncertain significance 128283 rs200450195 X:148037405-148037405 X:148955875-148955875
20 AFF2 NM_002025.4(AFF2):c.1842G>T (p.Leu614Phe) SNV Uncertain significance 281219 rs371160275 X:148037417-148037417 X:148955887-148955887
21 AFF2 NM_002025.4(AFF2):c.2914-15C>A SNV Uncertain significance 930497 X:148048305-148048305 X:148966775-148966775
22 AFF2 NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu) SNV Uncertain significance 94027 rs149653283 X:148048494-148048494 X:148966964-148966964
23 AFF2 NM_002025.4(AFF2):c.3267+5G>A SNV Uncertain significance 431909 rs374064624 X:148049227-148049227 X:148967697-148967697
24 FMR1 NM_002024.6(FMR1):c.1572C>T (p.Ser524=) SNV Likely benign 211027 rs143889976 X:147026489-147026489 X:147944969-147944969
25 AFF2 NM_002025.4(AFF2):c.2780G>A (p.Arg927His) SNV Likely benign 194202 rs140927355 X:148044334-148044334 X:148962804-148962804
26 AFF2 NM_002025.4(AFF2):c.1834C>G (p.His612Asp) SNV Likely benign 804093 rs376847375 X:148037409-148037409 X:148955879-148955879
27 FMR1 NM_002024.6(FMR1):c.357A>C (p.Lys119Asn) SNV Likely benign 804091 rs201580891 X:147010263-147010263 X:147928745-147928745
28 FMR1 NM_002024.6(FMR1):c.*746T>C SNV Benign 804092 rs183130936 X:147031110-147031110 X:147949590-147949590
29 FMR1 NM_002024.6(FMR1):c.818A>G (p.Lys273Arg) SNV Benign 444826 rs139029212 X:147014220-147014220 X:147932701-147932701
30 FMR1-AS1 NC_000023.10:g.146993570GGC[(?_45)] Microsatellite Benign 973210 X:146993570-146993570
31 FMR1 NM_002024.6(FMR1):c.414G>A (p.Arg138=) SNV Benign 94023 rs25707 X:147010320-147010320 X:147928802-147928802
32 FMR1 NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) SNV Benign 129104 rs29281 X:147011480-147011480 X:147929961-147929961

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

73
# 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 rs156954576

Copy number variations for Fragile X Syndrome from CNVD:

7
# CNVD ID Chromosome 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.
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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
Translational Control 4
11.84 FXR2 FXR1 FMR1 EIF4E
2
Neuroscience 4
11.7 MECP2 GRM5 GRM1 GRIA1 FXR2 FXR1
3
Long-term potentiation 36
Show member pathways
 11.65 GRM5 GRM1 GRIA1
4
Brain-Derived Neurotrophic Factor (BDNF) signaling pathway 1
11.62 GRIA1 EIF4E CYFIP1 BDNF
5
RNA transport 36
11.62 FXR2 FXR1 FMR1 EIF4E CYFIP1
6
MECP2 and Associated Rett Syndrome 1
11.29 MECP2 GRIA1 BDNF
7
GPCRs, Class C Metabotropic glutamate, pheromone 1
10.61 GRM5 GRM1
8
ERK Pathway in Huntingtons Disease 1
10.51 GRM1 BDNF
Sources

GO Terms for Fragile X Syndrome

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 10.04 SLC6A4 MECP2 MAP1B GRIA1 FMR1 CYFIP1
2 perinuclear region of cytoplasm GO:0048471 10.02 MAP1B FXR1 FMR1 EIF4E CYFIP1 BDNF
3 axon GO:0030424 9.96 MAP1B FXR2 FXR1 FMR1 BDNF
4 dendrite GO:0030425 9.95 MAP1B GRM1 GRIA1 FXR1 FMR1 BDNF
5 neuron projection GO:0043005 9.93 SLC6A4 GRM5 GRM1 GRIA1 FMR1 CYFIP1
6 glutamatergic synapse GO:0098978 9.89 GRM1 GRIA1 FXR1 EIF4E
7 neuronal cell body GO:0043025 9.88 MAP1B GRIA1 FXR2 FXR1 FMR1 CYFIP1
8 presynapse GO:0098793 9.84 SLC6A4 FXR2 FXR1 FMR1
9 growth cone GO:0030426 9.81 MAP1B FXR2 FXR1 FMR1
10 postsynaptic density GO:0014069 9.8 MAP1B GRM1 GRIA1 FXR2 FXR1 FMR1
11 cytoplasmic ribonucleoprotein granule GO:0036464 9.73 FXR2 FXR1 FMR1 EIF4E
12 postsynaptic density membrane GO:0098839 9.7 GRM5 GRM1 GRIA1
13 polysome GO:0005844 9.67 FXR2 FXR1 FMR1
14 filopodium tip GO:0032433 9.58 FMR1 CYFIP1
15 somatodendritic compartment GO:0036477 9.58 MAP1B GRIA1
16 mRNA cap binding complex GO:0005845 9.54 FMR1 EIF4E CYFIP1
17 dendritic spine neck GO:0044326 9.43 FXR2 FXR1 FMR1
18 dendritic spine GO:0043197 9.43 MAP1B GRIA1 FXR2 FXR1 FMR1 CYFIP1
19 dendritic filopodium GO:1902737 9.33 FXR2 FXR1 FMR1
20 postsynapse GO:0098794 9.17 MECP2 GRIA1 FXR1 FMR1 EIF4E CYFIP1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.83 MECP2 GRM5 GRM1 GRIA1
2 regulation of mRNA stability GO:0043488 9.72 FXR2 FXR1 FMR1
3 positive regulation of translation GO:0045727 9.67 FXR2 FXR1 FMR1
4 memory GO:0007613 9.65 SLC6A4 MECP2 BDNF
5 regulation of alternative mRNA splicing, via spliceosome GO:0000381 9.63 FXR2 FXR1 FMR1
6 negative regulation of translation GO:0017148 9.62 FXR2 FXR1 FMR1 EIF4E
7 synapse assembly GO:0007416 9.61 MECP2 MAP1B BDNF
8 regulation of postsynaptic membrane potential GO:0060078 9.58 GRM5 GRM1 GRIA1
9 G protein-coupled glutamate receptor signaling pathway GO:0007216 9.54 GRM5 GRM1
10 positive regulation of gene silencing by miRNA GO:2000637 9.51 FXR1 FMR1
11 positive regulation of response to DNA damage stimulus GO:2001022 9.43 FXR2 FXR1 FMR1
12 regulation of translation at postsynapse, modulating synaptic transmission GO:0099578 9.37 EIF4E CYFIP1
13 regulation of filopodium assembly GO:0051489 9.33 FXR2 FXR1 FMR1
14 regulation of postsynaptic cytosolic calcium ion concentration GO:0099566 9.13 GRM5 GRM1 GRIA1
15 regulation of translation GO:0006417 9.1 GRM5 FXR2 FXR1 FMR1 EIF4E CYFIP1

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 9.71 MECP2 FXR2 FXR1 FMR1
2 RNA 7-methylguanosine cap binding GO:0000340 9.48 EIF4E CYFIP1
3 siRNA binding GO:0035197 9.46 MECP2 FMR1
4 adenylate cyclase inhibiting G protein-coupled glutamate receptor activity GO:0001640 9.43 GRM5 GRM1
5 G-quadruplex RNA binding GO:0002151 9.37 FMR1 AFF2
6 glutamate receptor activity GO:0008066 9.33 GRM5 GRM1 GRIA1
7 RNA strand annealing activity GO:0033592 9.32 FXR1 FMR1
8 G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential GO:0099530 9.26 GRM5 GRM1
9 neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration GO:0099583 9.13 GRM5 GRM1 GRIA1
10 translation regulator activity GO:0045182 9.02 FXR2 FXR1 FMR1 EIF4E CYFIP1
Sources

Sources for Fragile X Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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