Fragile X Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

FXS MCID: FRG001 MIFTS: 69	Fragile X Syndrome (FXS) Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Fragile X Syndrome

MalaCards integrated aliases for Fragile X Syndrome:

IMPROVED

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:

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: ³¹ ³²

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Other chromosome abnormalities, not elsewhere classified

Fragile X chromosome

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Rare gynaecological and obstetric diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹¹ DOID:14261

OMIM® ⁵⁷ 300624

OMIM Phenotypic Series ⁵⁷ PS309510

ICD9CM ³⁴ 759.83

MeSH ⁴³ D005600

NCIt ⁴⁹ C84717

SNOMED-CT ⁶⁸ 390007001

ICD10 ³¹ Q99.2

MESH via Orphanet ⁴⁴ D005600

ICD10 via Orphanet ³² Q99.2

UMLS via Orphanet ⁷² C0016667 C0751156

Orphanet ⁵⁸ ORPHA449291 ORPHA908

MedGen ⁴⁰ C0016667

UMLS ⁷¹ C0016667 C0751156 C0751157

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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...

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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:

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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

Sources

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

Lovastatin

Approved, Investigational

Phase 4

75330-75-5

53232

Riluzole

Approved, Investigational

Phase 4

1744-22-5

5070

Metformin

Approved

Phase 4

1115-70-4, 657-24-9

4091

Risperidone

Approved, Investigational

Phase 4

106266-06-2

5073

Fluoxetine

Approved, Vet_approved

Phase 4

54910-89-3

3386

Lipid Regulating Agents

Phase 4

L 647318

Phase 4

Antimetabolites

Phase 4

Anticholesteremic Agents

Phase 4

Hypolipidemic Agents

Phase 4

Hydroxymethylglutaryl-CoA Reductase Inhibitors

Phase 4

Dihydromevinolin

Phase 4

Excitatory Amino Acid Antagonists

Phase 4

Neuroprotective Agents

Phase 4

Hypoglycemic Agents

Phase 4

Psychotropic Drugs

Phase 4

Antipsychotic Agents

Phase 4

Dopamine Antagonists

Phase 4

Serotonin

Investigational, Nutraceutical

Phase 4

50-67-9

5202

Baclofen

Approved

Phase 3

1134-47-0

2284

Tocopherol

Approved, Investigational

Phase 3

1406-66-2

Cannabidiol

Approved, Investigational

Phase 2, Phase 3

13956-29-1

521372 644019

Ascorbic acid

Approved, Nutraceutical

Phase 3

50-81-7

54676860 54670067 5785

DL-alpha-Tocopherol

Approved, Experimental, Investigational, Nutraceutical, Vet_approved

Phase 3

59-02-9, 10191-41-0

2116 14985

Tocotrienol

Investigational

Phase 3

6829-55-6

9929901

GABA Agonists

Phase 3

Micronutrients

Phase 3

Vitamins

Phase 3

Trace Elements

Phase 3

Tocotrienols

Phase 3

Tocopherols

Phase 3

Antioxidants

Phase 3

Anticonvulsants

Phase 2, Phase 3

Minocycline

Approved, Investigational

Phase 2

10118-90-8, 13614-98-7

54675783 5281021

Acamprosate

Approved, Investigational

Phase 2

77337-73-6, 77337-76-9

71158

Ethanol

Approved

Phase 2

64-17-5

702

Donepezil

Approved

Phase 2

120014-06-4

3152

Sertraline

Approved

Phase 2

79617-96-2

68617

Oxytocin

Approved, Vet_approved

Phase 2

50-56-6

53477758 439302

Aripiprazole

Approved, Investigational

Phase 2

129722-12-9

60795

Ganaxolone

Approved, Investigational

Phase 2

38398-32-2

22023730 6918305

Strawberry

Approved

Phase 2

Sulindac

Approved, Investigational

Phase 2

38194-50-2

5352 1548887

Glutamic acid

Approved, Nutraceutical

Phase 2

56-86-0

33032

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 2

59-30-3

6037

Pyridoxine

Approved, Investigational, Nutraceutical, Vet_approved

Phase 2

65-23-6

1054

Epigallocatechin gallate

Investigational

Phase 2

989-51-5

65064

Epigallocatechin

Experimental, Investigational

Phase 2

970-74-1

72277

Metadoxine

Experimental

Phase 2

74536-44-0

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

Sources

Genetic Tests for Fragile X Syndrome

Genetic tests related to Fragile X Syndrome:

#	Genetic test	Affiliating Genes
1	Fragile X Syndrome ²⁸	FMR1

Sources

Anatomical Context for Fragile X Syndrome

Organs/tissues related to Fragile X Syndrome:

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

Sources

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	De Boulle K...Willems PJ	8490650	1993
2	A nonsense mutation in FMR1 causing fragile X syndrome. ⁶² ⁵⁷ ⁵	Gronskov K...Hjalgrim H	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	Devys D...Oberle I	1605193	1992
4	Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. ⁶² ⁵⁷ ⁵	Kremer EJ...Richards RI	1675488	1991
5	Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. ⁵⁷ ⁵	Hagerman RJ...Hagerman PJ	11445641	2001
6	Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. ⁵³ ⁶² ⁵⁷	Coffee B...Warren ST	19804849	2009
7	Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP). ⁵³ ⁶² ⁵⁷	Gothelf D...Reiss AL	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	Koekkoek SK...De Zeeuw CI	16055059	2005
9	Noninvasive test for fragile X syndrome, using hair root analysis. ⁵³ ⁶² ⁵⁷	Willemsen R...Oostra BA	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	Feng Y...Warren ST	9659908	1997
11	Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. ⁵³ ⁶² ⁵	Lugenbeel KA...Nelson DL	7670500	1995
12	Absence of expression of the FMR-1 gene in fragile X syndrome. ⁵³ ⁶² ⁵⁷	Pieretti M...Nelson DL	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	Verkerk AJ...Zhang FP	1710175	1991
14	Cholesterol levels in fragile X syndrome. ⁶² ⁵⁷	Berry-Kravis E...Ouyang B	25424470	2015
15	Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan. ⁶² ⁵⁷	Fatima T...Imtiaz F	24478267	2014
16	Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome. ⁶² ⁵⁷	Colak D...Jaffrey SR	24578575	2014
17	Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. ⁶² ⁵⁷	Chonchaiya W...Hagerman RJ	22001913	2012
18	Fragile X syndrome: from molecular genetics to therapy. ⁶² ⁵⁷	D'Hulst C...Kooy RF	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	Hunter JE...Sherman SL	19026394	2008
20	Tdrd3 is a novel stress granule-associated protein interacting with the Fragile-X syndrome protein FMRP. ⁶² ⁵	Linder B...Fischer U	18664458	2008
21	Fragile X syndrome with anxiety disorder and exceptional verbal intelligence. ⁶² ⁵⁷	Angkustsiri K...Hagerman RJ	18203169	2008
22	A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy. ⁶² ⁵⁷	Tabolacci E...Neri G	17971832	2008
23	Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. ⁶² ⁵⁷	Jacquemont S...Leehey MA	17166801	2007
24	Periventricular heterotopia in fragile X syndrome. ⁶² ⁵⁷	Moro F...Guerrini R	16924033	2006
25	A cryptic full mutation in a male with a classical fragile X phenotype. ⁶² ⁵⁷	MacKenzie JJ...Taylor SA	16813602	2006
26	No evidence of paternal transmission of fragile X syndrome. ⁶² ⁵⁷	Steinbach D...Steinbach P	15887276	2005
27	Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes. ⁶² ⁵	Darnell JC...Darnell RB	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	Biancalana V...Mandel JL	15326620	2004
29	Paternal transmission of fragile X syndrome. ⁶² ⁵⁷	Zeesman S...Taylor SA	15316964	2004
30	Clinical features of boys with fragile X premutations and intermediate alleles. ⁶² ⁵⁷	Aziz M...Patton M	12898586	2003
31	Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis. ⁶² ⁵⁷	Willemsen R...Oostra B	12746404	2003
32	Prevalence of the fragile X syndrome in African-Americans. ⁶² ⁵⁷	Crawford DC...Sherman SL	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	Dombrowski C...Rousseau F	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	Larsen LA...Tranebjaerg L	11571563	2001
35	Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. ⁶² ⁵⁷	Toledano-Alhadef H...Shohat M	11443541	2001
36	Problems in the diagnosis of fragile X syndrome in young children are still present. ⁶² ⁵⁷	Stoll C	11298371	2001
37	Unilateral macroorchidism in fragile X syndrome. ⁶² ⁵⁷	Limprasert P...Vasiknanonte P	11146477	2000
38	Melatonin profiles and sleep characteristics in boys with fragile X syndrome: a preliminary study. ⁶² ⁵⁷	Gould EL...Huggins RM	11186882	2000
39	Cognitive and behavioral profile of fragile X boys: correlations to molecular data. ⁶² ⁵⁷	Backes M...von Gontard A	11078566	2000
40	Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males. ⁶² ⁵⁷	Lachiewicz AM...Spiridigliozzi GA	10842286	2000
41	Absence of fragile X syndrome in Nova Scotia. ⁶² ⁵⁷	Beresford RG...Greer WL	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	Larsen LA...Vuust J	10573009	1999
43	Compound heterozygous female with fragile X syndrome. ⁶² ⁵⁷	Linden MG...Taylor AK	10208169	1999
44	Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population. ⁶² ⁵⁷	Crawford DC...Sherman SL	9973286	1999
45	FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome. ⁶² ⁵⁷	Abrams MT...Reiss AL	9916838	1999
46	Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome. ⁶² ⁵⁷	Storm K...Willems PJ	9490298	1998
47	Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients. ⁶² ⁵⁷	Klauck SM...Poustka F	9254854	1997
48	Fragile X syndrome occurs in the South African black population. ⁶² ⁵⁷	Goldman A...Jenkins T	9254780	1997
49	Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique. ⁶² ⁵⁷	Willemsen R...Oostra BA	9050914	1997
50	Fragile X syndrome is less common than previously estimated. ⁶² ⁵⁷	Morton JE...Bullock S	9032640	1997

Sources

Genes for Fragile X Syndrome

Genes/enhancers related to Fragile X Syndrome (4 elite genes):

(show top 50) (show all 107)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FMR1	Fragile X Messenger Ribonucleoprotein 1	Protein Coding	1762.54	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries Proteins Pathways & Interactions (show sections)	1605193 1675488 1710175 (more) 7530551 7620122 7633450 7670500 8156595 8490650 9659908 9719368 10208170 11445641 15805463 18664458 21267007 20301558 12883656 8593539 18616611 7726157 10331602 11814427 10870330 9600241 11449486 10331599 17259243 18412117 15377638 10424820 17932962 9211186 18181681 11030419 9375726 8668200 1302032 8559749 9207038 7513295 10341296 12447822 17065172 19099346 11448936 11246709 7927336 7688265 20011099 19804849 19806593 17170008 11449488 11142752 9150432 8862184 8242066 1878973 19836446 19460941 19233246 8730293 8515814 19844254 18687414 17428978 16700053 12633995 12447821 11450815 9030614 18832455 16741913 15330685 12952862 11431225 10767339 9391887 8844089 8069307 8324827 1307252 17850748 14993603 12232854 9131013 7943023 8219287 8213832 7692601 19193898 15082225 11992571 10767313 8503923 8301764 19097038 19025200 17666893 12018775 9384610 9375856 18163424 17101793 11262423 11229516 11019488 10208166 8842725 10496225 16055059 10364521 1605194 8197163
1	FMR1::GH0XJ147908	TSS distance: +0.7kb Elite enhancer with elite association with FMR1			Curated enhancer-disease association ²³ ( 27569544)	20799337
2	FMR1-AS1	FMR1 Antisense RNA 1	RNA Gene	565.78	Pathogenic ⁵ Experimental evidence: Expression ³⁷ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	17921506 18213394 20380817 (more) 23791884 26322075 27338628
3	FRAXA	Fragile Site, Folic Acid Type, Rare, Fra(X)(Q27.3) A	Functional Element	431.37	Pathogenic ⁵ GeneCards inferred via : Disorders Publications Summaries (show sections)	1710175 7620122
4	LOC107032825	Origin Of Replication In 5' Region Of FMR1	Functional Element	418.11	Pathogenic ⁵ GeneCards inferred via : Publications Summaries (show sections)	1710175 7620122
5	GRM5	Glutamate Metabotropic Receptor 5	Protein Coding	35.21	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Pathways & Interactions (show sections)	18202092 19117905 19017149 (more) 17987523
6	CYFIP1	Cytoplasmic FMR1 Interacting Protein 1	Protein Coding	34.71	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Pathways & Interactions (show sections)	18805096
7	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	33.32	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Pathways & Interactions (show sections)	15696166 11309367
8	FXR2	FMR1 Autosomal Homolog 2	Protein Coding	27.92	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10446811
9	FXR1	FMR1 Autosomal Homolog 1	Protein Coding	27.47	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10446811 18628314
10	AFF2	ALF Transcription Elongation Factor 2	Protein Coding	27.39	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11462240 17506108
11	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	24.91	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
12	GRM1	Glutamate Metabotropic Receptor 1	Protein Coding	24.44	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
13	GRIA1	Glutamate Ionotropic Receptor AMPA Type Subunit 1	Protein Coding	24.28	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
14	EIF4E	Eukaryotic Translation Initiation Factor 4E	Protein Coding	24.2	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
15	GRIA2	Glutamate Ionotropic Receptor AMPA Type Subunit 2	Protein Coding	23.66	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
16	SYNGAP1	Synaptic Ras GTPase Activating Protein 1	Protein Coding	23.58	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
17	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	23.54	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
18	MMP9	Matrix Metallopeptidase 9	Protein Coding	23.3	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
19	MAP1B	Microtubule Associated Protein 1B	Protein Coding	23.22	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Pathways & Interactions (show sections)	12927206
20	DICER1	Dicer 1, Ribonuclease III	Protein Coding	23.19	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
21	CYFIP2	Cytoplasmic FMR1 Interacting Protein 2	Protein Coding	23.16	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
22	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	22.92	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
23	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	22.35	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
24	AGAP2	ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain 2	Protein Coding	22.04	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
25	GABRA1	Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1	Protein Coding	21.26	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
26	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	21.22	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
27	NR1H4	Nuclear Receptor Subfamily 1 Group H Member 4	Protein Coding	19.2	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8668200
28	SLC6A4	Solute Carrier Family 6 Member 4	Protein Coding	16.34	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10369890
29	DLG4	Discs Large MAGUK Scaffold Protein 4	Protein Coding	16.32	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
30	SHANK1	SH3 And Multiple Ankyrin Repeat Domains 1	Protein Coding	15.49	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
31	TSC2	TSC Complex Subunit 2	Protein Coding	15.18	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
32	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	15.06	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
33	PTPN5	Protein Tyrosine Phosphatase Non-Receptor Type 5	Protein Coding	15.06	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
34	ARC	Activity Regulated Cytoskeleton Associated Protein	Protein Coding	15.02	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
35	FXN	Frataxin	Protein Coding	14.98	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
36	HOMER1	Homer Scaffold Protein 1	Protein Coding	14.97	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
37	APP	Amyloid Beta Precursor Protein	Protein Coding	14.87	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
38	GRIN2A	Glutamate Ionotropic Receptor NMDA Type Subunit 2A	Protein Coding	14.73	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
39	DLGAP3	DLG Associated Protein 3	Protein Coding	14.46	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
40	EIF4EBP2	Eukaryotic Translation Initiation Factor 4E Binding Protein 2	Protein Coding	14.36	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
41	KCND2	Potassium Voltage-Gated Channel Subfamily D Member 2	Protein Coding	14.34	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
42	PTEN	Phosphatase And Tensin Homolog	Protein Coding	14.33	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
43	GAD1	Glutamate Decarboxylase 1	Protein Coding	14.16	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
44	GPHN	Gephyrin	Protein Coding	14.06	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
45	NTRK2	Neurotrophic Receptor Tyrosine Kinase 2	Protein Coding	14.04	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
46	TSC1	TSC Complex Subunit 1	Protein Coding	14.02	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
47	EIF4G1	Eukaryotic Translation Initiation Factor 4 Gamma 1	Protein Coding	14.01	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
48	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	13.98	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
49	EIF4A1	Eukaryotic Translation Initiation Factor 4A1	Protein Coding	13.95	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
50	NF1	Neurofibromin 1	Protein Coding	13.94	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)

Sources

Variations for Fragile X Syndrome

ClinVar genetic disease variations for Fragile X Syndrome:

IMPROVED

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

Sources

Expression for Fragile X Syndrome

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

Sources

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	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶⁴ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶⁴ Cholera Infection ⁶⁴	12.42	GRM5 GRM1 GRIA2 GRIA1 BDNF
2	Neuroscience ³	12.14	SYNGAP1 MECP2 GRM5 GRM1 GRIA2 GRIA1
3	Translational Control ³ Show member pathways exRNA mechanism of action and biogenesis ⁷⁴	11.93	MTOR FXR2 FXR1 FMR1 EIF4E DICER1
4	Neuroinflammation and glutamatergic signaling ⁷⁴	11.87	GRM5 GRM1 GRIA2 GRIA1 BDNF
5	Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling ²² Show member pathways DARPP-32 events ⁶⁶	11.63	GRM1 GRIA2 GRIA1
6	Fragile X syndrome ⁷⁴ Show member pathways Pilocytic astrocytoma ⁷⁴	11.56	SYNGAP1 MTOR MMP9 MECP2 MAP1B GRM5
7	MECP2 and associated Rett syndrome ⁷⁴	11.53	MTOR MECP2 GRIA1 BDNF
8	Neurogenesis regulation in the olfactory epithelium ⁷⁴	11.39	MECP2 MAP1B BDNF
9	Common pathways underlying drug addiction ⁷⁴ Show member pathways Hippocampal synaptogenesis and neurogenesis ⁷⁴	11.19	GRIA1 GRIA2 GRM1 GRM5
10	PKC-gamma calcium signaling pathway in ataxia ⁷⁴	10.9	GRM1 GRIA2 GRIA1
11	Disruption of postsynaptic signaling by CNV ⁷⁴	10.77	SYNGAP1 CYFIP1
12	"4-hydroxytamoxifen, dexamethasone, and retinoic acids regulation of p27 expression" ⁷⁴	10.75	MTOR EIF4E
13	ERK pathway in Huntington's disease ⁷⁴	10.69	GRM1 BDNF
14	15q11.2 copy number variation syndrome ⁷⁴	10.43	FMR1 CYFIP1

Sources

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