FXS
MCID: FRG001
MIFTS: 69

Fragile X Syndrome (FXS)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Fragile X Syndrome

MalaCards integrated aliases for Fragile X Syndrome:

Name: Fragile X Syndrome 57 11 19 42 58 75 73 28 12 53 5 41 2 43 14 71
Martin-Bell Syndrome 57 11 19 42 58 73
Fraxa Syndrome 19 42 58 75 53 71
Fxs 57 19 42 58 73 2
Marker X Syndrome 57 11 19 42 73
X-Linked Mental Retardation and Macroorchidism 57 42 75
Fragile X Mental Retardation Syndrome 57 11
Fra Syndrome 19 42
Symptomatic Form of Fragile X Syndrome in Female Carriers 58
Mental Retardation, X-Linked, Associated with Marxq28 57
X-Linked Intellectual Disability and Macroorchidism 19
Fragile-X Syndrome 38
Fraxe Syndrome 71
Frax Syndrome 58

Characteristics:


Inheritance:

Fragile X Syndrome: X-linked dominant 58 57
Symptomatic Form of Fragile X Syndrome in Female Carriers: X-linked dominant 58

Prevelance:

1-5/10000 (Worldwide, Europe, Spain, Canada) 1-9/100000 (United States, France, Europe) 58

Age Of Onset:

Fragile X Syndrome: Childhood,Infancy,Neonatal 58
Symptomatic Form of Fragile X Syndrome in Female Carriers: Childhood,Infancy,Neonatal 58

Age Of Death:

Fragile X Syndrome: normal life expectancy 58
Symptomatic Form of Fragile X Syndrome in Female Carriers: normal life expectancy 58

OMIM®:

57 (Updated 24-Oct-2022)
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


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Fragile X Syndrome

MedlinePlus Genetics: 42 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 autism spectrum disorder, and has symptoms including seizures and agitation. An important gene associated with Fragile X Syndrome is FMR1 (Fragile X Messenger Ribonucleoprotein 1), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Neuroscience. The drugs Lovastatin and Riluzole have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and prefrontal cortex, and related phenotypes are neurological speech impairment and chronic otitis media

MedlinePlus: 41 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

Orphanet 58 Fragile x syndrome: A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism.

Symptomatic form of fragile x syndrome in female carriers: A rare genetic disease characterized by a variable clinical phenotype which includes similar features but is typically less severe than in affected males. Patients may present with mild to borderline intellectual disability, anxiety, social phobia, selective mutism, attention deficit hyperactivity disorder, language deficit, neurologic signs and symptoms (such as seizures, hypotonia, and clonus), ophthalmologic anomalies (strabismus, refractive errors), and facial dysmorphism (including long face, prominent forehead, large, prominent ears, and mandibular prognathism).

GARD: 19 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 in the FMR1 gene and is inherited in an X-linked dominant manner.

OMIM®: 57 Fragile X syndrome (FXS) is characterized by moderately to severely impaired intellectual development, 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 24-Oct-2022)

UniProtKB/Swiss-Prot: 73 An X-linked dominant disease characterized by moderate to severe intellectual disability, 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.

CDC: 2 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.

Disease Ontology: 11 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.

Wikipedia: 75 Fragile X syndrome (FXS) is a genetic disorder characterized by 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 393)
# Related Disease Score Top Affiliating Genes
1 fragile x tremor/ataxia syndrome 33.0 LOC107032825 FRAXA FMR1-AS1 FMR1
2 autism spectrum disorder 32.6 SYNGAP1 MTOR MECP2 MAP1B GRM5 GRIA2
3 autism 32.5 SYNGAP1 MTOR MMP9 MECP2 MAP1B GRM5
4 attention deficit-hyperactivity disorder 32.0 MECP2 MAP1B GRM5 GRM1 GRIA2 GRIA1
5 learning disability 31.9 MECP2 FMR1 CYFIP1 BDNF
6 fragile x-associated tremor/ataxia syndrome 31.9 LOC107032825 GRM5 FXR2 FXR1 FRAXA FMR1-AS1
7 anxiety 31.8 MECP2 GRM1 GRIA1 FMR1 BDNF
8 premature ovarian failure 1 31.7 LOC107032825 GRM5 FXR2 FXR1 FRAXA FMR1-AS1
9 pervasive developmental disorder 31.6 SYNGAP1 MTOR MECP2 GRM5 GRIA2 GRIA1
10 rett syndrome 31.5 SYNGAP1 MTOR MECP2 GRM5 GRIA1 BDNF
11 epilepsy 31.4 SYNGAP1 MTOR MECP2 GRM5 GRM1 GRIA2
12 tuberous sclerosis 31.2 SYNGAP1 MTOR GRM5 EIF4E
13 prader-willi syndrome 31.1 MECP2 FMR1 CYFIP1 BDNF
14 focal epilepsy 31.1 MECP2 GRM5 GRM1 BDNF
15 bipolar disorder 31.0 GRM5 GRM1 GRIA2 GRIA1 BDNF
16 migraine with or without aura 1 31.0 MMP9 GRM5 GRIA1 FMR1 BDNF
17 status epilepticus 30.8 MTOR GRM5 GRIA2 GRIA1 BDNF
18 chromosomal disease 30.8 MECP2 FMR1 CYFIP1 BDNF
19 alzheimer disease, familial, 1 30.8 MTOR MAP1B GRIA2 GRIA1 EIF4E BDNF
20 central nervous system disease 30.8 MMP9 GRM5 GRM1 BDNF
21 angelman syndrome 30.8 MTOR MECP2 CYFIP1 BDNF
22 psychotic disorder 30.6 MECP2 GRM5 GRM1 GRIA2 GRIA1 FMR1
23 disease of mental health 30.6 MECP2 GRM5 GRIA1 FMR1 BDNF
24 amyotrophic lateral sclerosis 1 30.6 MTOR MMP9 MECP2 MAP1B GRM5 GRM1
25 schizophrenia 30.6 SYNGAP1 MTOR MMP9 MECP2 MAP1B GRM5
26 atypical autism 30.6 MECP2 FMR1
27 west syndrome 30.6 SYNGAP1 MTOR MECP2 FMR1 CYFIP1
28 peripheral nervous system disease 30.6 MTOR MMP9 FMR1 DICER1 BDNF
29 velocardiofacial syndrome 30.5 MECP2 FMR1 CYFIP1
30 temporal lobe epilepsy 30.3 GRM5 GRM1 BDNF
31 fragile x syndrome type 1 11.6
32 fragile x syndrome type 2 11.5
33 fragile x syndrome type 3 11.5
34 turner syndrome 11.4
35 premature menopause 11.4
36 alacrima, achalasia, and mental retardation syndrome 11.2
37 cherubism 11.1
38 childhood apraxia of speech 11.1
39 down syndrome 10.9
40 cerebellar atrophy, developmental delay, and seizures 10.9
41 tremor 10.8
42 fmr1 disorders 10.6
43 audiogenic seizures 10.6
44 specific developmental disorder 10.5 MECP2 GRM5 GRIA1 FXR1 FMR1 CYFIP1
45 syndromic intellectual disability 10.5 SYNGAP1 MECP2 GRIA1 FMR1 BDNF AFF2
46 syndromic x-linked intellectual disability 10.5 MECP2 GRIA1 FMR1 BDNF AFF2
47 childhood absence epilepsy 10.5 SYNGAP1 MECP2 GRM1 GRIA1 FMR1 CYFIP1
48 x-linked hereditary ataxia 10.5 GRM5 FMR1-AS1 FMR1 AFF2
49 childhood disintegrative disease 10.5 MECP2 FMR1 BDNF
50 nervous system disease 10.5 MTOR MMP9 MECP2 GRM5 GRM1 GRIA2

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:

58 30 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002167
2 chronic otitis media 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000389
3 macroorchidism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000053
4 pes planus 58 30 Very rare (1%) Very frequent (99-80%)
Very rare (<4-1%)
HP:0001763
5 joint laxity 58 30 Very rare (1%) Very frequent (99-80%)
Very rare (<4-1%)
HP:0001388
6 intellectual disability, moderate 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002342
7 folate-dependent fragile site at xq28 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003564
8 macrocephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000256
9 frontal bossing 58 30 Frequent (33%) Frequent (79-30%)
HP:0002007
10 mandibular prognathia 58 30 Very rare (1%) Frequent (79-30%)
Very rare (<4-1%)
HP:0000303
11 gastroesophageal reflux 58 30 Very rare (1%) Frequent (79-30%)
Very rare (<4-1%)
HP:0002020
12 sinusitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000246
13 attention deficit hyperactivity disorder 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
HP:0007018
14 anxiety 58 30 Frequent (33%) Occasional (29-5%)
Frequent (79-30%)
HP:0000739
15 narrow face 58 30 Frequent (33%) Frequent (79-30%)
HP:0000275
16 long face 58 30 Very rare (1%) Frequent (79-30%)
Very rare (<4-1%)
HP:0000276
17 protruding ear 58 30 Frequent (33%) Frequent (79-30%)
HP:0000411
18 large forehead 58 30 Very rare (1%) Frequent (79-30%)
HP:0002003
19 hypotonia 30 Very rare (1%) HP:0001252
20 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
21 diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000819
22 hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000821
23 hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000822
24 self-injurious behavior 58 30 Very rare (1%) Occasional (29-5%)
Very rare (<4-1%)
HP:0100716
25 delayed speech and language development 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000750
26 strabismus 58 30 Very rare (1%) Occasional (29-5%)
Very rare (<4-1%)
HP:0000486
27 autism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000717
28 autoimmunity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002960
29 motor delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001270
30 mitral valve prolapse 58 30 Very rare (1%) Occasional (29-5%)
Very rare (<4-1%)
HP:0001634
31 cerebral cortical atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002120
32 hyperthyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000836
33 impaired social interactions 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000735
34 shyness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100962
35 dyscalculia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002442
36 ascending tubular aorta aneurysm 30 Occasional (7.5%) HP:0004970
37 seizure 30 Very rare (1%) HP:0001250
38 depression 30 Occasional (7.5%) HP:0000716
39 sleep disturbance 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002360
40 scoliosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002650
41 macrotia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000400
42 prominent forehead 58 30 Very rare (1%) Very rare (<4-1%)
HP:0011220
43 recurrent otitis media 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000403
44 irritability 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000737
45 poor eye contact 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000817
46 aortic root aneurysm 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002616
47 abnormal temper tantrums 58 30 Very rare (1%) Very rare (<4-1%)
HP:0025160
48 aggressive behavior 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000718
49 hyperactivity 58 30 Very rare (1%) Occasional (29-5%)
HP:0000752
50 thin skin 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000963

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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)

Cardiovascular Vascular:
mild dilatation of ascending aorta

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 24-Oct-2022)

UMLS symptoms related to Fragile X Syndrome:


seizures; agitation

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

25 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 10.03 FXR2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.03 FXR2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-134 10.03 FXR2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-135 10.03 FXR2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.03 FXR2 GRM5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.03 FXR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-156 10.03 GRM5
8 Increased shRNA abundance (Z-score > 2) GR00366-A-17 10.03 GRM5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10.03 FXR2 GRM5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.03 EIF4E
11 Increased shRNA abundance (Z-score > 2) GR00366-A-212 10.03 EIF4E
12 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.03 FXR2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.03 FXR2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-45 10.03 FXR2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.03 FXR2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-51 10.03 FXR2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.03 GRM5
18 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.03 EIF4E
19 Increased shRNA abundance (Z-score > 2) GR00366-A-61 10.03 GRM5
20 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.03 FXR2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.03 GRM5
22 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.03 GRM5
23 Reduced mammosphere formation GR00396-S 9.17 BDNF DICER1 EIF4E GRIA2 GRM5 MAP1B

MGI Mouse Phenotypes related to Fragile X Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.24 AFF2 BDNF CYFIP1 DICER1 FMR1 FXR2
2 growth/size/body region MP:0005378 10.17 AFF2 BDNF DICER1 FMR1 FXR1 GRIA1
3 behavior/neurological MP:0005386 10.16 AFF2 BDNF CYFIP1 DICER1 FMR1 FXR1
4 no phenotypic analysis MP:0003012 9.95 BDNF DICER1 FXR1 GRIA1 GRIA2 MECP2
5 reproductive system MP:0005389 9.9 BDNF DICER1 FMR1 FXR1 FXR2 GRIA2
6 mortality/aging MP:0010768 9.8 AFF2 BDNF CYFIP1 DICER1 EIF4E FXR1
7 integument MP:0010771 9.32 AFF2 BDNF DICER1 GRIA1 GRIA2 GRM1

Drugs & Therapeutics for Fragile X Syndrome

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

(show top 50) (show all 112)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lovastatin Approved, Investigational Phase 4 75330-75-5 53232
2
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
3
Metformin Approved Phase 4 1115-70-4, 657-24-9 4091
4
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
5
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
6 Lipid Regulating Agents Phase 4
7 L 647318 Phase 4
8 Antimetabolites Phase 4
9 Anticholesteremic Agents Phase 4
10 Hypolipidemic Agents Phase 4
11 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
12 Dihydromevinolin Phase 4
13 Excitatory Amino Acid Antagonists Phase 4
14 Neuroprotective Agents Phase 4
15 Hypoglycemic Agents Phase 4
16 Psychotropic Drugs Phase 4
17 Antipsychotic Agents Phase 4
18 Dopamine Antagonists Phase 4
19
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
20
Baclofen Approved Phase 3 1134-47-0 2284
21
Tocopherol Approved, Investigational Phase 3 1406-66-2
22
Cannabidiol Approved, Investigational Phase 2, Phase 3 13956-29-1 521372 644019
23
Ascorbic acid Approved, Nutraceutical Phase 3 50-81-7 54676860 54670067 5785
24
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 3 59-02-9, 10191-41-0 2116 14985
25
Tocotrienol Investigational Phase 3 6829-55-6 9929901
26 GABA Agonists Phase 3
27 Micronutrients Phase 3
28 Vitamins Phase 3
29 Trace Elements Phase 3
30 Tocotrienols Phase 3
31 Tocopherols Phase 3
32 Antioxidants Phase 3
33 Anticonvulsants Phase 2, Phase 3
34
Minocycline Approved, Investigational Phase 2 10118-90-8, 13614-98-7 54675783 5281021
35
Acamprosate Approved, Investigational Phase 2 77337-73-6, 77337-76-9 71158
36
Ethanol Approved Phase 2 64-17-5 702
37
Donepezil Approved Phase 2 120014-06-4 3152
38
Sertraline Approved Phase 2 79617-96-2 68617
39
Oxytocin Approved, Vet_approved Phase 2 50-56-6 53477758 439302
40
Aripiprazole Approved, Investigational Phase 2 129722-12-9 60795
41
Ganaxolone Approved, Investigational Phase 2 38398-32-2 22023730 6918305
42 Strawberry Approved Phase 2
43
Sulindac Approved, Investigational Phase 2 38194-50-2 5352 1548887
44
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
45
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
46
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
47
Epigallocatechin gallate Investigational Phase 2 989-51-5 65064
48
Epigallocatechin Experimental, Investigational Phase 2 970-74-1 72277
49
Metadoxine Experimental Phase 2 74536-44-0
50
Gaboxadol Investigational Phase 2 64603-91-4 3448

Interventional clinical trials:

(show top 50) (show all 85)
# 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 Efficacy and Safety of Metformin in the Treatment of Fragile X Syndrome Recruiting NCT05120505 Phase 4 Metformin;Placebo
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 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome Completed NCT03479476 Phase 2, Phase 3 Placebo Medication;Metformin
6 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 - Cannabidiol Transdermal Gel
7 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 Completed NCT02942498 Phase 3 Vitamin C 10mg/Kg Vitamin E 10 mg/Kg;Placebo
8 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
9 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;Placebo
10 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 - RECONNECT Recruiting NCT04977986 Phase 3 ZYN002 - transdermal gel;Placebo
11 A Randomized, Double-blind, Placebo-controlled, Two-Part Study of High and Low Dose BPN14770 in Male Adolescents (Aged 12 to < 18 Years) With Fragile X Syndrome Recruiting NCT05163808 Phase 2, Phase 3 zatolmilast;Placebo
12 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) Enrolling by invitation NCT03802799 Phase 2, Phase 3 ZYN002 - Cannabidiol Transdermal Gel
13 A Randomized, Double-blind, Placebo-controlled, Parallel Group Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome Not yet recruiting NCT05358886 Phase 3 BPN14770/ zatolmilast;Placebo
14 An Open-Label Extension Study of BPN14770 in Subjects With Fragile X Syndrome Not yet recruiting NCT05367960 Phase 3 Zatolmilast/ BPN14770
15 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
16 An Open-Label Extension Study to Evaluate the Safety, Tolerability, and Pharmacokinetics in Subject With Fragile X Syndrome Terminated NCT01555333 Phase 3 arbaclofen
17 Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome Unknown status NCT02616796 Phase 1, Phase 2
18 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 Unknown status NCT04141163 Phase 1, Phase 2 Metformin;Placebo oral tablet
19 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
20 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
21 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
22 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
23 A Controlled Trial of Sertraline in Young Children With Fragile X Syndrome Completed NCT01474746 Phase 2 Sertraline;Placebo
24 Double-blind Placebo Controlled Study of Oxytocin in Fragile X Syndrome Completed NCT01254045 Phase 2 placebo;oxytocin 24IU;oxytocin 48IU
25 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
26 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
27 Aripiprazole in Fragile X Syndrome Completed NCT00420459 Phase 2 Aripiprazole
28 Effects of Ampakine CX516 (Ampalex®) on Functioning in Fragile X Syndrome and Autism Completed NCT00054730 Phase 2 CX516 (Ampalex®)
29 Evaluate the Efficacy and Safety of Metformin in Children and Adults With Fragile X Syndrome: an Open-label Study Completed NCT03722290 Phase 2 Metformin
30 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)
31 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
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 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
34 A Controlled, Double-blind, Crossover Trial of Ganaxolone in Children With Fragile X Syndrome Completed NCT01725152 Phase 2 Ganaxolone;Placebo
35 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
36 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
37 Pilot Study of Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 2 Acamprosate
38 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
39 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
40 Estrogen Receptors Beta (ER-B) as Therapeutic Targets for the Improvement of Cognitive Performance in Fragile-X (TESXF) Completed NCT01855971 Phase 2
41 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
42 An Exploratory Single Blind Study of Ergoloid Mesylates, 5-Hydroxytryptophan, and the Combination in Adult Males With Fragile X Syndrome Recruiting NCT05030129 Phase 2 Ergoloid Mesylate
43 A Phase 2, Placebo-controlled, Adaptive Design Study to Explore the Safety and Efficacy of Sulindac (HLX-0201) and Gaboxadol (HLX-0206) and Possible Other Treatments in Adolescent and Adult Males With Fragile X Syndrome (FXS) Recruiting NCT04823052 Phase 2 Sulindac (HLX-0201), dose strength 1;Sulindac (HLX-0201), dose strength 2;Placebo;Gaboxadol (HLX-0206)
44 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome (FXS) Recruiting NCT03862950 Phase 2 Placebo Medication;Metformin
45 Effects of AFQ056 on Language Learning in Young Children With Fragile X Syndrome (FXS) Active, not recruiting NCT02920892 Phase 2 AFQ056
46 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
47 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
48 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
49 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
50 A Phase 1 Single Dose PK Study in Adolescent Subjects With Fragile X Syndrome or Angelman Syndrome Completed NCT03109756 Phase 1 OV101

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 28 FMR1

Anatomical Context for Fragile X Syndrome

Organs/tissues related to Fragile X Syndrome:

MalaCards : Eye, Brain, Prefrontal Cortex, Skin, Cortex, Amygdala, Cingulate Cortex

Publications for Fragile X Syndrome

Articles related to Fragile X Syndrome:

(show top 50) (show all 5442)
# Title Authors PMID Year
1
A point mutation in the FMR-1 gene associated with fragile X mental retardation. 53 62 57 5
8490650 1993
2
A nonsense mutation in FMR1 causing fragile X syndrome. 62 57 5
21267007 2011
3
Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development. 62 57 5
1605193 1992
4
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. 62 57 5
1675488 1991
5
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. 57 5
11445641 2001
6
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. 53 62 57
19804849 2009
7
Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP). 53 62 57
17932962 2008
8
Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome. 53 62 57
16055059 2005
9
Noninvasive test for fragile X syndrome, using hair root analysis. 53 62 57
10364521 1999
10
FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association. 53 62 5
9659908 1997
11
Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. 53 62 5
7670500 1995
12
Absence of expression of the FMR-1 gene in fragile X syndrome. 53 62 57
1878973 1991
13
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. 53 62 5
1710175 1991
14
Cholesterol levels in fragile X syndrome. 62 57
25424470 2015
15
Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan. 62 57
24478267 2014
16
Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome. 62 57
24578575 2014
17
Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. 62 57
22001913 2012
18
Fragile X syndrome: from molecular genetics to therapy. 62 57
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. 62 57
19026394 2008
20
Tdrd3 is a novel stress granule-associated protein interacting with the Fragile-X syndrome protein FMRP. 62 5
18664458 2008
21
Fragile X syndrome with anxiety disorder and exceptional verbal intelligence. 62 57
18203169 2008
22
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy. 62 57
17971832 2008
23
Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. 62 57
17166801 2007
24
Periventricular heterotopia in fragile X syndrome. 62 57
16924033 2006
25
A cryptic full mutation in a male with a classical fragile X phenotype. 62 57
16813602 2006
26
No evidence of paternal transmission of fragile X syndrome. 62 57
15887276 2005
27
Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes. 62 5
15805463 2005
28
Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France. 62 57
15326620 2004
29
Paternal transmission of fragile X syndrome. 62 57
15316964 2004
30
Clinical features of boys with fragile X premutations and intermediate alleles. 62 57
12898586 2003
31
Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis. 62 57
12746404 2003
32
Prevalence of the fragile X syndrome in African-Americans. 62 57
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. 62 57
11854169 2002
34
Analysis of FMR1 (CGG)(n) alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia. 62 57
11571563 2001
35
Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. 62 57
11443541 2001
36
Problems in the diagnosis of fragile X syndrome in young children are still present. 62 57
11298371 2001
37
Unilateral macroorchidism in fragile X syndrome. 62 57
11146477 2000
38
Melatonin profiles and sleep characteristics in boys with fragile X syndrome: a preliminary study. 62 57
11186882 2000
39
Cognitive and behavioral profile of fragile X boys: correlations to molecular data. 62 57
11078566 2000
40
Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males. 62 57
10842286 2000
41
Absence of fragile X syndrome in Nova Scotia. 62 57
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. 62 57
10573009 1999
43
Compound heterozygous female with fragile X syndrome. 62 57
10208169 1999
44
Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population. 62 57
9973286 1999
45
FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome. 62 57
9916838 1999
46
Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome. 62 57
9490298 1998
47
Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients. 62 57
9254854 1997
48
Fragile X syndrome occurs in the South African black population. 62 57
9254780 1997
49
Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique. 62 57
9050914 1997
50
Fragile X syndrome is less common than previously estimated. 62 57
9032640 1997

Variations for Fragile X Syndrome

ClinVar genetic disease variations for Fragile X Syndrome:

5 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FMR1 NC_000023.10:g.146993570GGC[(55_200)] MICROSAT Other
973208 GRCh37:
GRCh38:
2 FMR1 NC_000023.10:g.146993570GGC[(45_54)] MICROSAT Other
973209 GRCh37:
GRCh38:
3 FMR1-AS1, FMR1 NM_002024.6(FMR1):c.-128GGC[200_?] MICROSAT Pathogenic
623468 GRCh37: X:146993570-146993570
GRCh38:
4 FMR1 NM_002024.6(FMR1):c.911T>A (p.Ile304Asn) SNV Pathogenic
9969 rs121434622 GRCh37: X:147018053-147018053
GRCh38: X:147936534-147936534
5 FMR1 NM_002024.6(FMR1):c.373del (p.Thr125fs) DEL Pathogenic
9970 rs1569545562 GRCh37: X:147010279-147010279
GRCh38: X:147928761-147928761
6 FMR1 NM_002024.6(FMR1):c.52-1_52delinsTA INDEL Pathogenic
9971 rs1557176576 GRCh37: X:147003450-147003451
GRCh38: X:147921932-147921933
7 FMR1 NM_002024.6:c.-128GGM[55_?] MICROSAT Pathogenic
9972 GRCh37:
GRCh38:
8 FMR1 NM_002024.6(FMR1):c.80C>A (p.Ser27Ter) SNV Pathogenic
29987 rs1569545382 GRCh37: X:147003479-147003479
GRCh38: X:147921961-147921961
9 FMR1 NC_000023.9:g.146703942_146820448del DEL Pathogenic
183388 GRCh37:
GRCh38:
10 overlap with 5 genes NC_000006.11:g.146735206_147036914del301709 DEL Pathogenic
242923 GRCh37: 6:146735206-147036914
GRCh38: 6:146414070-146715778
11 FMR1, FRAXA, LOC107032825 NM_002024.6(FMR1):c.-129CGG[201] MICROSAT Pathogenic
183387 rs193922936 GRCh37: X:146993570-146993572
GRCh38: X:147912049-147912050
12 FMR1 NM_002024.6(FMR1):c.1184G>A (p.Trp395Ter) SNV Likely Pathogenic
1027987 rs2043856428 GRCh37: X:147019676-147019676
GRCh38: X:147938157-147938157
13 FMR1 NM_002024.6(FMR1):c.1282G>C (p.Asp428His) SNV Uncertain Significance
1027988 rs2044064790 GRCh37: X:147024657-147024657
GRCh38: X:147943137-147943137
14 FMR1 NM_002024.6(FMR1):c.786T>G (p.Phe262Leu) SNV Uncertain Significance
1676786 GRCh37: X:147014099-147014099
GRCh38: X:147932580-147932580
15 FMR1 NM_002024.6(FMR1):c.413G>A (p.Arg138Gln) SNV Uncertain Significance
1701686 GRCh37: X:147010319-147010319
GRCh38: X:147928801-147928801
16 FMR1 NM_002024.6(FMR1):c.1831C>T (p.Arg611Cys) SNV Uncertain Significance
1698834 GRCh37: X:147030296-147030296
GRCh38: X:147948776-147948776
17 FMR1 NM_002024.6(FMR1):c.1572C>T (p.Ser524=) SNV Likely Benign
211027 rs143889976 GRCh37: X:147026489-147026489
GRCh38: X:147944969-147944969
18 FMR1 NM_002024.6(FMR1):c.357A>C (p.Lys119Asn) SNV Likely Benign
804091 rs201580891 GRCh37: X:147010263-147010263
GRCh38: X:147928745-147928745
19 FMR1 NM_002024.6(FMR1):c.*746T>C SNV Benign
804092 rs183130936 GRCh37: X:147031110-147031110
GRCh38: X:147949590-147949590
20 FMR1 NM_002024.6(FMR1):c.414G>A (p.Arg138=) SNV Benign
94023 rs25707 GRCh37: X:147010320-147010320
GRCh38: X:147928802-147928802
21 FMR1 NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) SNV Benign
129104 rs29281 GRCh37: X:147011480-147011480
GRCh38: X:147929961-147929961
22 FMR1 NM_002024.6(FMR1):c.990+14C>T SNV Benign
94025 rs25714 GRCh37: X:147018146-147018146
GRCh38: X:147936627-147936627
23 FMR1, FRAXA, LOC107032825 NM_002024.6(FMR1):c.-98GGC[11] MICROSAT Benign
1272795 GRCh37: X:146993599-146993600
GRCh38: X:147912081-147912082
24 FMR1 NM_002024.6(FMR1):c.818A>G (p.Lys273Arg) SNV Benign
444826 rs139029212 GRCh37: X:147014220-147014220
GRCh38: X:147932701-147932701
25 FMR1-AS1, FMR1 NC_000023.10:g.146993570GGC[(?_45)] MICROSAT Benign
973210 GRCh37: X:146993570-146993570
GRCh38:

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 rs1569545763

Copy number variations for Fragile X Syndrome from CNVD:

6
# 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

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 GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 GRM5 GRM1 GRIA2 GRIA1 BDNF
2 12.14 SYNGAP1 MECP2 GRM5 GRM1 GRIA2 GRIA1
3
Show member pathways
11.93 MTOR FXR2 FXR1 FMR1 EIF4E DICER1
4 11.87 GRM5 GRM1 GRIA2 GRIA1 BDNF
5
Show member pathways
11.63 GRM1 GRIA2 GRIA1
6
Show member pathways
11.56 SYNGAP1 MTOR MMP9 MECP2 MAP1B GRM5
7 11.53 MTOR MECP2 GRIA1 BDNF
8 11.39 MECP2 MAP1B BDNF
9
Show member pathways
11.19 GRIA1 GRIA2 GRM1 GRM5
10 10.9 GRM1 GRIA2 GRIA1
11 10.77 SYNGAP1 CYFIP1
12 10.75 MTOR EIF4E
13 10.69 GRM1 BDNF
14 10.43 FMR1 CYFIP1

GO Terms for Fragile X Syndrome

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 10.38 MAP1B FXR1 FMR1 EIF4E DICER1 CYFIP1
2 glutamatergic synapse GO:0098978 10.27 SYNGAP1 GRM5 GRM1 GRIA1 FXR1 EIF4E
3 neuronal cell body GO:0043025 10.25 CYFIP1 FMR1 FXR1 FXR2 GRIA1 GRIA2
4 dendrite GO:0030425 10.24 MTOR MAP1B GRM1 GRIA2 GRIA1 FXR1
5 presynapse GO:0098793 10.16 GRIA1 FXR2 FXR1 FMR1
6 growth cone GO:0030426 10.15 MAP1B FXR2 FXR1 FMR1
7 cytoplasmic ribonucleoprotein granule GO:0036464 10.08 EIF4E FMR1 FXR1 FXR2
8 postsynaptic density membrane GO:0098839 10.06 GRM5 GRM1 GRIA2 GRIA1
9 polysome GO:0005844 10 FXR2 FXR1 FMR1
10 excitatory synapse GO:0060076 9.99 CYFIP1 GRIA1 GRIA2
11 mRNA cap binding complex GO:0005845 9.91 FMR1 EIF4E CYFIP1
12 postsynaptic density GO:0014069 9.86 SYNGAP1 MAP1B GRM5 GRM1 GRIA2 GRIA1
13 postsynapse GO:0098794 9.85 CYFIP1 EIF4E FMR1 FXR1 GRIA1 GRIA2
14 dendritic filopodium GO:1902737 9.8 FXR2 FXR1 FMR1
15 dendritic spine neck GO:0044326 9.73 FXR2 FXR1 FMR1
16 dendritic spine GO:0043197 9.53 MAP1B GRM5 GRIA2 GRIA1 FXR2 FXR1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 10.15 GRIA1 GRIA2 GRM1 GRM5 MECP2
2 positive regulation of protein phosphorylation GO:0001934 10.11 MTOR MMP9 FXR2 FXR1 FMR1
3 regulation of alternative mRNA splicing, via spliceosome GO:0000381 10.03 FXR2 FXR1 FMR1
4 dendrite development GO:0016358 10.01 SYNGAP1 MECP2 MAP1B
5 negative regulation of translation GO:0017148 10.01 FXR2 FXR1 FMR1 EIF4E
6 regulation of postsynaptic membrane potential GO:0060078 9.99 GRM5 GRM1 GRIA1
7 positive regulation of translation GO:0045727 9.97 MTOR FXR2 FXR1 FMR1
8 regulation of mRNA stability GO:0043488 9.95 FXR2 FXR1 FMR1
9 adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway GO:0007196 9.85 GRM5 GRM1
10 positive regulation of receptor binding GO:1900122 9.83 MMP9 BDNF
11 regulation of translation at postsynapse, modulating synaptic transmission GO:0099578 9.73 CYFIP1 EIF4E
12 regulation of filopodium assembly GO:0051489 9.73 FMR1 FXR1 FXR2
13 positive regulation of response to DNA damage stimulus GO:2001022 9.63 FXR2 FXR1 FMR1
14 glutamate receptor signaling pathway GO:0007215 9.62 GRIA2 GRIA1 FMR1
15 regulation of postsynaptic cytosolic calcium ion concentration GO:0099566 9.43 GRM5 GRM1 GRIA1
16 regulation of translation GO:0006417 9.28 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 adenylate cyclase inhibiting G protein-coupled glutamate receptor activity GO:0001640 9.76 GRM5 GRM1
2 G-quadruplex RNA binding GO:0002151 9.73 FMR1 AFF2
3 glutamate receptor activity GO:0008066 9.73 GRIA1 GRM1 GRM5
4 RNA strand annealing activity GO:0033592 9.71 FXR1 FMR1
5 AMPA glutamate receptor activity GO:0004971 9.67 GRIA2 GRIA1
6 siRNA binding GO:0035197 9.63 MECP2 FMR1 DICER1
7 G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential GO:0099530 9.62 GRM5 GRM1
8 neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration GO:0099583 9.43 GRM5 GRM1 GRIA1
9 translation regulator activity GO:0045182 9.28 FXR2 FXR1 FMR1 EIF4E CYFIP1

Sources for Fragile X Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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