FRAX
MCID: FRG001
MIFTS: 69

Fragile X Syndrome (FRAX) malady

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

Aliases & Classifications for Fragile X Syndrome

Aliases & Descriptions for Fragile X Syndrome:

Name: Fragile X Syndrome 54 12 71 50 24 25 56 66 13 52 41 3 3 42 14 69
Martin-Bell Syndrome 12 50 24 25 56
Fraxa Syndrome 50 25 56 52 69
Fraxe Syndrome 50 24 25 52 69
Fxs 50 24 25 56 3
Marker X Syndrome 12 50 24 25
X-Linked Mental Retardation and Macroorchidism 71 50 25
Fragile Xe Syndrome 50 25 29
X-Linked Mental Retardation Associated with Fragile Site Fraxe 50 24
Fragile X Mental Retardation Syndrome 54 12
Fraxe Mental Retardation Syndrome 24 25
Fra Syndrome 50 25
Frax 66 29
Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 25
Symptomatic Form of Fragile X Syndrome in Female Carrier 56
X-Linked Mental Retardation and Macro-Orchidism 50
Mental Retardation, X-Linked, Fraxe Type 25
Fragile Site, Folic Acid Type 50
Fraxe Intellectual Disability 25
Fragile X Mental Retardation 24
Fraxe Intellectual Deficit 25
Frax Syndrome 56
Fraxa 24

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
fragile x syndrome:
Onset and clinical course incomplete penetrance
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 54 300624
Disease Ontology 12 DOID:14261
ICD10 33 Q99.2
ICD9CM 35 759.83
MeSH 42 D005600
NCIt 47 C84717
SNOMED-CT 64 390007001 613003
ICD10 via Orphanet 34 Q99.2
MESH via Orphanet 43 D005600
UMLS via Orphanet 70 C0016667 C0751156
UMLS 69 C0016667

Summaries for Fragile X Syndrome

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

MalaCards based summary : Fragile X Syndrome, also known as martin-bell syndrome, is related to autism spectrum disorder and fragile x syndrome type 1, and has symptoms including seizures, joint laxity and macrocephaly. An important gene associated with Fragile X Syndrome is FMR1 (Fragile X Mental Retardation 1), and among its related pathways/superpathways are Neuroscience and Translational Control. The drugs Riluzole and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and behavior/neurological

Disease Ontology : 12 An X-linked disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has material basis in X-linked inheritance and a loss of FMR1 function.

Genetics Home Reference : 25 Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.

NIH Rare Diseases : 50 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. last updated: 5/12/2016

OMIM : 54 Fragile X mental retardation is characterized by moderate to severe mental retardation, macroorchidism, and distinct... (300624) more...

UniProtKB/Swiss-Prot : 66 Fragile X syndrome: Common genetic disease (has a prevalence of one in every 2000 children) which is characterized by moderate to severe mental retardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region.

Wikipedia : 71 Fragile X syndrome (FXS) is a genetic disorder. Symptoms often include mild to moderate intellectual... more...

Related Diseases for Fragile X Syndrome

Diseases in the Fragile X Syndrome family:

Fragile X Syndrome Type 1 Fragile X Syndrome Type 2
Fragile X Syndrome Type 3

Diseases related to Fragile X Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
id Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 30.2 AFF2 BDNF FMR1 FXR1 FXR2 MECP2
2 fragile x syndrome type 1 11.9
3 fragile x syndrome type 2 11.9
4 fragile x syndrome type 3 11.9
5 fragile x tremor/ataxia syndrome 11.5
6 intellectual disability 11.2
7 bone fracture 11.0
8 mental retardation, x-linked, fraxe type 10.8
9 down syndrome 10.2
10 hypomyelinating leukoencephalopathy 10.2 FMR1 GRM5
11 ataxia 10.2
12 neuronitis 10.1
13 tremor 10.1
14 epilepsy 10.1
15 y-linked disease 10.1 AFF2 FMR1 FXR1 FXR2 GRM5
16 angular cheilitis 10.1 AFF2 FMR1 MECP2
17 secondary progressive multiple sclerosis 10.0 AFF2 FMR1 MECP2 TSPAN7
18 fragile x-associated tremor/ataxia syndrome 10.0
19 premature ovarian failure 10.0
20 personality disorder 10.0 BDNF FMR1 GRM5 MECP2 SLC6A4
21 sexual disorder 10.0 BDNF EIF4E FMR1 MECP2 SLC6A4
22 learning disability 9.9
23 epithelioid type angiomyolipoma 9.9 BDNF GRM1 GRM5 SLC6A4
24 paraphilia disorder 9.9 AFF2 BDNF FMR1 MECP2 SLC6A4
25 colorectal cancer 9.9
26 myotonic dystrophy 9.9
27 turner syndrome 9.9
28 prader-willi syndrome 9.9
29 ellis-van creveld syndrome 9.9 BDNF FMR1 MECP2 SLC6A4
30 muscular dystrophy 9.8
31 attention deficit-hyperactivity disorder 9.8
32 anxiety disorder 9.8
33 cerebritis 9.8
34 friedreich ataxia 9.8
35 stuttering 9.8
36 neurofibromatosis 9.8
37 neurofibromatosis, type 1 9.8
38 factor x deficiency 9.7
39 hepatocellular carcinoma 9.7
40 achondroplasia 9.6
41 audiogenic seizures 9.6
42 cherubism 9.6
43 dysostosis 9.6
44 transmitted_by 9.6
45 monosomy 21 9.6
46 duchenne muscular dystrophy 9.6
47 testicular microlithiasis 9.6
48 focal epilepsy 9.6
49 mbd5 haploinsufficiency 9.6
50 williams-beuren syndrome 9.6

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



Diseases related to Fragile X Syndrome

Symptoms & Phenotypes for Fragile X Syndrome

Symptoms by clinical synopsis from OMIM:

300624

Clinical features from OMIM:

300624

Human phenotypes related to Fragile X Syndrome:

56 32 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 joint laxity 56 32 Very frequent (99-80%) HP:0001388
3 macrocephaly 56 32 Frequent (79-30%) HP:0000256
4 frontal bossing 56 32 Frequent (79-30%) HP:0002007
5 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
6 neurological speech impairment 56 32 Very frequent (99-80%) HP:0002167
7 self-injurious behavior 56 32 Occasional (29-5%) HP:0100716
8 mandibular prognathia 56 32 Frequent (79-30%) HP:0000303
9 chronic otitis media 56 32 Very frequent (99-80%) HP:0000389
10 macroorchidism 56 32 Very frequent (99-80%) HP:0000053
11 pes planus 56 32 Very frequent (99-80%) HP:0001763
12 gastroesophageal reflux 56 32 Frequent (79-30%) HP:0002020
13 sinusitis 56 32 Frequent (79-30%) HP:0000246
14 strabismus 56 32 Occasional (29-5%) HP:0000486
15 autism 56 32 Occasional (29-5%) HP:0000717
16 attention deficit hyperactivity disorder 56 32 Frequent (79-30%) HP:0007018
17 anxiety 56 32 Occasional (29-5%) HP:0000739
18 protruding ear 56 32 Frequent (79-30%) HP:0000411
19 cerebral cortical atrophy 56 32 Occasional (29-5%) HP:0002120
20 intellectual disability, moderate 56 32 Very frequent (99-80%) HP:0002342
21 dilatation of the ascending aorta 56 32 Occasional (29-5%) HP:0005111
22 narrow face 56 32 Frequent (79-30%) HP:0000275
23 mitral valve prolapse 56 32 Occasional (29-5%) HP:0001634
24 long face 56 32 Frequent (79-30%) HP:0000276
25 large forehead 56 32 Frequent (79-30%) HP:0002003
26 folate-dependent fragile site at xq28 56 32 Very frequent (99-80%) HP:0003564
27 abnormal head movements 32 HP:0002457
28 pectus excavatum 32 HP:0000767
29 scoliosis 32 HP:0002650
30 coarse facial features 32 HP:0000280
31 macrotia 32 HP:0000400
32 otitis media 56 Frequent (79-30%)
33 hyperactivity 32 HP:0000752
34 periventricular gray matter heterotopia 32 HP:0007165
35 poor eye contact 32 HP:0000817
36 macroorchidism, postpubertal 32 HP:0002050
37 congenital macroorchidism 32 HP:0008640

UMLS symptoms related to Fragile X Syndrome:


seizures, joint laxity, abnormal head movements, agitation

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.68 FXR2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.68 EIF4E
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.68 FXR2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.68 FXR2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.68 FXR2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.68 EIF4E
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.68 FXR2 GRM5
8 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.68 FXR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.68 GRM5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.68 EIF4E
11 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.68 EIF4E FXR2 GRM5
12 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.68 EIF4E
13 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.68 FXR2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.68 FXR2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.68 FXR2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-51 9.68 FXR2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.68 GRM5
18 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.68 FXR2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.68 GRM5
20 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.68 GRM5

MGI Mouse Phenotypes related to Fragile X Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 CYFIP1 CYFIP2 DICER1 FMR1 FXR1 FXR2
2 endocrine/exocrine gland MP:0005379 9.86 BDNF DICER1 FMR1 FXR1 GRM5 MECP2
3 integument MP:0010771 9.85 BDNF DICER1 FMR1 FXR2 GRIA1 GRM1
4 nervous system MP:0003631 9.7 GRM1 GRM5 MECP2 SLC6A4 BDNF CYFIP1
5 reproductive system MP:0005389 9.23 BDNF DICER1 FMR1 FXR1 FXR2 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 94)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Lovastatin Approved, Investigational Phase 4,Phase 2 75330-75-5 53232
4
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
5
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
6 Anticonvulsants Phase 4
7 Excitatory Amino Acid Antagonists Phase 4
8 Excitatory Amino Acids Phase 4
9 Neuroprotective Agents Phase 4
10 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
11 Protective Agents Phase 4,Phase 3,Phase 2
12 Antipsychotic Agents Phase 4,Phase 2
13 Central Nervous System Depressants Phase 4,Phase 2
14 Dopamine Agents Phase 4
15 Neurotransmitter Uptake Inhibitors Phase 4,Phase 2
16 Psychotropic Drugs Phase 4,Phase 2
17
Serotonin Phase 4,Phase 2 50-67-9 5202
18 Serotonin Agents Phase 4,Phase 2
19 Tranquilizing Agents Phase 4,Phase 2
20 Anticholesteremic Agents Phase 4,Phase 2
21 Antimetabolites Phase 4,Phase 2
22 Dihydromevinolin Phase 4,Phase 2
23 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 2
24 Hypolipidemic Agents Phase 4,Phase 2
25 L 647318 Phase 4,Phase 2
26 Lipid Regulating Agents Phase 4,Phase 2
27 Central Nervous System Stimulants Phase 4
28 Dopamine Antagonists Phase 4
29 Dopamine Uptake Inhibitors Phase 4
30 Serotonin Antagonists Phase 4
31
Acamprosate Approved, Investigational Phase 3,Phase 2 77337-76-9 71158
32
Ethanol Approved Phase 3,Phase 2 64-17-5 702
33
Baclofen Approved Phase 3,Phase 2 1134-47-0 2284
34
Vitamin C Approved, Nutraceutical Phase 3,Phase 2 50-81-7 5785 54670067
35
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-02-9 14985
36 Antioxidants Phase 3,Phase 2
37 Micronutrients Phase 3,Phase 2
38 Pharmaceutical Solutions Phase 3,Phase 2
39 Tocopherols Phase 3,Phase 2
40 Tocotrienols Phase 3,Phase 2
41 Trace Elements Phase 3,Phase 2
42 Vitamins Phase 3,Phase 2
43 Tocopherol Nutraceutical Phase 3,Phase 2
44 Tocotrienol Nutraceutical Phase 3,Phase 2
45
Sertraline Approved Phase 2 79617-96-2 68617
46
Aripiprazole Approved, Investigational Phase 2 129722-12-9 60795
47
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
48
Donepezil Approved Phase 2,Phase 1 120014-06-4 3152
49
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
50
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037

Interventional clinical trials:

(show top 50) (show all 71)
id Name Status NCT ID Phase
1 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4
2 Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome Recruiting NCT02642653 Phase 4
3 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4
4 Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome Completed NCT01282268 Phase 3
5 Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 3
6 Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome Completed NCT01325220 Phase 3
7 Study of Acamprosate in Fragile x Syndrome Recruiting NCT01911455 Phase 2, Phase 3
8 Clinical Trial for Asses the Safety and Efficacy of Vitamin C and Vitamin E in Combination Versus Placebo for Treating Cognitive and Behavior Disorder in Children With Fragile X Syndrome Recruiting NCT02942498 Phase 3
9 Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label) Terminated NCT01433354 Phase 2, Phase 3
10 An Open Label Extension Study in Subjects With Fragile X Syndrome Terminated NCT01555333 Phase 3
11 Citocoline for Treatment of FXTAS Unknown status NCT02197104 Phase 2
12 Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome Completed NCT01253629 Phase 2
13 Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome Completed NCT01357239 Phase 2
14 A 6-week, Study of MG01CI Low Dose and High Dose Compared With Placebo in Adults and Adolescents With Fragile X Syndrome Completed NCT02126995 Phase 2
15 Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X Syndrome Completed NCT00788073 Phase 2
16 Trial of Sertraline to Treat Children With Fragile X Syndrome Completed NCT01474746 Phase 2
17 Effects of CX516 on Functioning in Fragile X Syndrome and Autism Completed NCT00054730 Phase 2
18 A Prospective Open-label Study of Aripiprazole in Fragile X Syndrome Completed NCT00420459 Phase 2
19 Safety and Efficacy Study of Antioxidants for the Treatment of the Fragile X Syndrome Completed NCT01329770 Phase 2
20 A Safety Study of NNZ-2566 in Patients With Fragile X Syndrome Completed NCT01894958 Phase 2
21 Double-blind Placebo Controlled Study of Oxytocin in Fragile X Syndrome Completed NCT01254045 Phase 2
22 A Study of RO4917523 in Pediatric Patients With Fragile X Syndrome Completed NCT01750957 Phase 2
23 A Study of RO4917523 in Patients With Fragile X Syndrome Completed NCT01517698 Phase 2
24 Randomized Controlled Study of Donepezil in Fragile X Syndrome Completed NCT01120626 Phase 2
25 Open Label Study Investigating Safety and Efficacy of NPL2009 50 mg - 150 mg on Prepulse Inhibition Tests and Continuous Performance Tasks, Adults With Fragile X Syndrome Completed NCT00637221 Phase 1, Phase 2
26 A Study With RO4917523 in Patients With Fragile X Syndrome Completed NCT01015430 Phase 2
27 Efficacy, Safety and Tolerability of AFQ056 in Fragile X Patients Completed NCT00718341 Phase 2
28 Combined Treatment of Minocycline and Lovastatin to Treat Individuals With Fragile X Syndrome Recruiting NCT02680379 Phase 2
29 Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome Recruiting NCT02616796 Phase 1, Phase 2
30 Ganaxolone Treatment in Children With Fragile X Syndrome Active, not recruiting NCT01725152 Phase 2
31 Single-Dose Acamprosate, Lovastatin, Minocycline and Placebo in Fragile X Syndrome Enrolling by invitation NCT02998151 Phase 2
32 Treatment of Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) With Allopregnanolone Enrolling by invitation NCT02603926 Phase 2
33 AFQ056 for Language Learning in Children With FXS Not yet recruiting NCT02920892 Phase 2
34 A Study to Assess the Tolerability of a Single Dose of STX107 in Adults With Fragile X Syndrome Suspended NCT01325740 Phase 2
35 An Open Label Extension Study of STX209 in Subjects With Fragile X Syndrome Terminated NCT01013480 Phase 2
36 Long-term, Safety, Tolerability and Efficacy Study of AFQ056 in Adult Patients With Fragile X Syndrome Terminated NCT01348087 Phase 2
37 Clinical Study to Assess the Pharmacokinetics, Safety and Tolerability of Single and Multiple Oral Doses of AFQ056 in Children With Fragile X Syndrome (FXS) Completed NCT01482143 Phase 1
38 An Open-Label Trial of Donepezil in Fragile X Syndrome Completed NCT00220584 Phase 1
39 A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107 Completed NCT00965432 Phase 1
40 A PET Brain Imaging Study of mGluR5 in Subjects With Neuropsychiatric Conditions Completed NCT00870974 Phase 1
41 Single Dose Pharmacokinetic (PK) Study Recruiting NCT03109756 Phase 1
42 Glutaminergic Transmission in Autism : Molecular Imaging Exploration Recruiting NCT02719951 Phase 1
43 Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts Active, not recruiting NCT02567357 Phase 1
44 An Initial Study of AZD7325 in Adults With Fragile X Syndrome Not yet recruiting NCT03140813 Phase 1
45 Teaching Math Skills to Individuals With Fragile X Syndrome Unknown status NCT01204151
46 Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay Unknown status NCT01616589
47 Trial of Minocycline to Treat Children With Fragile X Syndrome Completed NCT01053156
48 Decisional Capacity and Informed Consent in Fragile X Syndrome Completed NCT02465931
49 Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrome Completed NCT00858689
50 "Using Epigallocatechin Gallate (EGCG) and Cognitive Training to Modulate Cognitive Performance in Patients With Fragile X Syndrome" (TESFX) Completed NCT01855971

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:

id Genetic test Affiliating Genes
1 Fragile X Syndrome 29 24 FMR1
2 Fraxe 29
3 X-Linked Mental Retardation Associated with Fragile Site Fraxe 24 AFF2

Anatomical Context for Fragile X Syndrome

MalaCards organs/tissues related to Fragile X Syndrome:

39
Brain, Testes, Eye, Amygdala, Cortex, Prefrontal Cortex, Temporal Lobe

Publications for Fragile X Syndrome

Articles related to Fragile X Syndrome:

(show top 50) (show all 872)
id Title Authors Year
1
Intranasal siRNA administration reveals IGF2 deficiency contributes to impaired cognition in Fragile X syndrome mice. ( 28352664 )
2017
2
Hyperactive locomotion in a Drosophila model is a functional readout for the synaptic abnormalities underlying fragile X syndrome. ( 28465421 )
2017
3
A Screening Tool to Measure Eye Contact Avoidance in Boys with Fragile X Syndrome. ( 28516425 )
2017
4
Metformin as Targeted Treatment in Fragile X Syndrome. ( 28436599 )
2017
5
Behavioral effects of chronic stress in the Fmr1 mouse model for fragile X syndrome. ( 27939692 )
2017
6
Fragile X Syndrome: Lessons Learned from the Most Translated Neurodevelopmental Disorder in Clinical Trials. ( 28400977 )
2017
7
The Longitudinal Effects of Parenting on Adaptive Behavior in Children with Fragile X Syndrome. ( 28074357 )
2017
8
Human pluripotent stem cells in modeling human disorders: the case of fragile X syndrome. ( 27900874 )
2017
9
Beneficial effect of interventional exercise on autistic Fragile X syndrome. ( 28533625 )
2017
10
Reduced Lateral Inhibition Impairs Olfactory Computations and Behaviors in a Drosophila Model of Fragile X Syndrome. ( 28366741 )
2017
11
Capture-recapture methodology to study rare conditions using surveillance data for fragile X syndrome and muscular dystrophy. ( 28427448 )
2017
12
Finding drugs for fragile X syndrome. ( 28473566 )
2017
13
Erratum: Sensory hypo-excitability in a rat model of fetal development in Fragile X Syndrome. ( 28294163 )
2017
14
New insights of altered lipid profile in Fragile X Syndrome. ( 28334053 )
2017
15
New connections: Treating fragile X syndrome. ( 28465418 )
2017
16
Metformin ameliorates core deficits in a mouse model of fragile X syndrome. ( 28504725 )
2017
17
A resting EEG study of neocortical hyperexcitability and altered functional connectivity in fragile X syndrome. ( 28316753 )
2017
18
Altered visual repetition suppression in Fragile X Syndrome: New evidence from ERPs and oscillatory activity. ( 28330777 )
2017
19
Fragile X syndrome: a review of clinical and molecular diagnoses. ( 28420439 )
2017
20
Altered Connectivity and Synapse Maturation of the Hippocampal Mossy Fiber Pathway in a Mouse Model of the Fragile X Syndrome. ( 28077511 )
2017
21
Neural Circuits: Reduced Inhibition in Fragile X Syndrome. ( 28441561 )
2017
22
Language Skills of Males with Fragile X Syndrome or Nonsyndromic Autism Spectrum Disorder. ( 28074353 )
2017
23
Review of Salient Investigational Drugs for the Treatment of Fragile X Syndrome. ( 28475355 )
2017
24
GABA-B Agonist Baclofen Normalizes Auditory-Evoked Neural Oscillations and Behavioral Deficits in the Fmr1 Knockout Mouse Model of Fragile X Syndrome. ( 28451631 )
2017
25
Challenges in prenatal screening and counselling for fragile X syndrome. ( 28387201 )
2017
26
Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells. ( 27014370 )
2016
27
Finding novel distinctions between the sAPPI+-mediated anabolic biochemical pathways in Autism Spectrum Disorder and Fragile X Syndrome plasma and brain tissue. ( 27212113 )
2016
28
A Randomized, Double-Blind, Placebo-Controlled Trial of Low-Dose Sertraline in Young Children With Fragile X Syndrome. ( 27560971 )
2016
29
Investigating the Receptive-Expressive Vocabulary Profile in Children with Idiopathic ASD and Comorbid ASD and Fragile X Syndrome. ( 27796729 )
2016
30
Fragile X syndrome: Are signaling lipids the missing culprits? ( 27597551 )
2016
31
Astrocytic Contributions to Synaptic and Learning Abnormalities in a Mouse Model of Fragile X Syndrome. ( 27865451 )
2016
32
Joint Engagement and Early Language in Young Children With Fragile X Syndrome. ( 27681878 )
2016
33
Validity of a condition specific outcome measure for fragile X syndrome: the Aberrant Behaviour Checklist-utility index. ( 26929037 )
2016
34
Fragile X syndrome screening in pregnant women and women planning pregnancy shows a remarkably high FMR1 premutation prevalence in the Balearic Islands. ( 27333191 )
2016
35
BMP signaling turns up in fragile X syndrome: FMRP represses BMPR2. ( 27273094 )
2016
36
A New Link Between Insulin Signaling and Fragile X Syndrome. ( 27838827 )
2016
37
Identification of microsatellite markers <1a88Mb from the FMR1 CGG repeat and development of a single-tube tetradecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of fragile X syndrome. ( 26741412 )
2016
38
Psychiatric disorders among women with thea88fragile X premutation without children affected by fragile X syndrome. ( 27615674 )
2016
39
Fragile X syndrome: panoramic radiographic evaluation of dental anomalies, dental mineralization stage, and mandibular angle. ( 27812623 )
2016
40
Pragmatic Language Features of Mothers With the FMR1 Premutation Are Associated With the Language Outcomes of Adolescents and Young Adults With Fragile X Syndrome. ( 26895548 )
2016
41
Importance of a specialty clinic for individuals with fragile X syndrome. ( 27649377 )
2016
42
MDM2 inhibition rescues neurogenic and cognitive deficits in a mouse model of fragile X syndrome. ( 27122614 )
2016
43
Social/economic costs and health-related quality of life in patients with fragile X syndrome in Europe. ( 27072054 )
2016
44
Understanding fragile X syndrome from a mother's perspective: Challenges and resilience. ( 27104339 )
2016
45
Assistive technology to promote occupation and reduce mouthing by three boys with fragile X syndrome. ( 27054947 )
2016
46
Co-regulation of mRNA translation by TDP-43 and Fragile X Syndrome protein FMRP. ( 27518042 )
2016
47
The FMR1 promoter is selectively hydroxymethylated in primary neurons of Fragile X Syndrome patients. ( 27599747 )
2016
48
Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations. ( 27916885 )
2016
49
A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome. ( 28050218 )
2016
50
Physiological Correlates of Maternal Responsivity in Mothers of Preschoolers With Fragile X Syndrome. ( 26914466 )
2016

Variations for Fragile X Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 FMR1 p.Ile304Asn VAR_005234 rs121434622
2 FMR1 p.Arg138Gln VAR_064507 rs200163413
3 FMR1 p.Gly266Glu VAR_075977

ClinVar genetic disease variations for Fragile X Syndrome:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 FMR1 NM_002024.5(FMR1): c.911T> A (p.Ile304Asn) single nucleotide variant Pathogenic rs121434622 GRCh37 Chromosome X, 147018053: 147018053
2 FMR1 FMR1, 1-BP DEL, 373A deletion Pathogenic
3 FMR1 FMR1, IVS2AS1, G-T, -1 AND G-A, +1 single nucleotide variant Pathogenic
4 FMR1 FMR1, (CGG)n EXPANSION NT expansion Pathogenic
5 AFF2 NM_001169122.1(AFF2): c.-460_-458GCC(6_25) NT expansion Pathogenic rs193922937 GRCh37 Chromosome X, 147582158: 147582160
6 SERPINA1 NM_001127701.1(SERPINA1): c.1096G> A (p.Glu366Lys) single nucleotide variant Pathogenic rs28929474 GRCh37 Chromosome 14, 94844947: 94844947
7 AFF2 AFF2, 121- to 145-KB DEL deletion Pathogenic
8 FMR1 FMR1, SER27TER single nucleotide variant Pathogenic
9 FMR1 NM_002024.5(FMR1): c.-128_-126(200) NT expansion Pathogenic GRCh38 Chromosome X, 147912052: 147912054
10 FMR1 NC_000023.9: g.146703942_146820448del deletion Pathogenic NCBI36 Chromosome X, 146703942: 146820448
11 ADGB; GRM1; LOC101928661; RAB32 NC_000006.12: g.146414070_146715778del301709 deletion Pathogenic GRCh38 Chromosome 6, 146414070: 146715778

Copy number variations for Fragile X Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 60593 11 88300000 92800000 Copy number GRM5 Fragile x
2 259561 X 137800000 146900000 Copy number FMR1 Fragile x

Expression for Fragile X Syndrome

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

Pathways for Fragile X Syndrome

GO Terms for Fragile X Syndrome

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.85 BDNF CYFIP1 CYFIP2 EIF4E FMR1 FXR1
2 dendrite GO:0030425 9.8 DICER1 FMR1 FXR1 GRIA1 GRM1
3 postsynaptic density GO:0014069 9.73 FMR1 GRIA1 GRM1 GRM5
4 presynaptic membrane GO:0042734 9.63 FMR1 GRM1 GRM5
5 postsynapse GO:0098794 9.5 FMR1 GRIA1 MECP2
6 filopodium tip GO:0032433 9.49 CYFIP1 FMR1
7 RISC complex GO:0016442 9.48 DICER1 EIF4E
8 dendritic spine GO:0043197 9.46 CYFIP1 FMR1 FXR1 GRIA1
9 polysome GO:0005844 9.43 FMR1 FXR1 FXR2
10 neuron projection GO:0043005 9.17 CYFIP1 CYFIP2 FMR1 GRIA1 GRM1 GRM5
11 mRNA cap binding complex GO:0005845 9.13 CYFIP1 EIF4E FMR1

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

id Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.73 GRIA1 GRM1 GRM5 MECP2
2 neuron projection development GO:0031175 9.65 CYFIP1 CYFIP2 MECP2
3 negative regulation of translation GO:0017148 9.54 EIF4E FXR1 FXR2
4 G-protein coupled glutamate receptor signaling pathway GO:0007216 9.46 GRM1 GRM5
5 positive regulation of gene silencing by miRNA GO:2000637 9.4 FMR1 FXR1
6 dendrite extension GO:0097484 9.32 CYFIP1 CYFIP2
7 adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway GO:0007196 9.26 GRM1 GRM5
8 chemical synaptic transmission, postsynaptic GO:0099565 9.16 GRIA1 GRM5
9 positive regulation of neurotrophin TRK receptor signaling pathway GO:0051388 8.96 CYFIP1 CYFIP2
10 regulation of postsynaptic cytosolic calcium ion concentration GO:0099566 8.8 GRIA1 GRM1 GRM5

Molecular functions related to Fragile X Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.98 AFF2 DICER1 EIF4E FMR1 FXR1 FXR2
2 mRNA binding GO:0003729 9.62 FMR1 FXR1 FXR2 MECP2
3 glutamate receptor activity GO:0008066 9.43 GRIA1 GRM1 GRM5
4 RNA 7-methylguanosine cap binding GO:0000340 9.4 CYFIP1 EIF4E
5 RNA strand annealing activity GO:0033592 9.37 FMR1 FXR1
6 siRNA binding GO:0035197 9.33 DICER1 FMR1 MECP2
7 G-quadruplex RNA binding GO:0002151 9.13 AFF2 FMR1 FXR1
8 neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration GO:0099583 8.8 GRIA1 GRM1 GRM5

Sources for Fragile X Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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