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

FXS MCID: FRG001 MIFTS: 75	Fragile X Syndrome (FXS) malady Neuronal diseases, Eye diseases, Endocrine diseases, Fetal diseases categories
27 symptoms, 62 genes, 14 tissues, 77 related diseases, clinical trials, genetic tests.

Summaries for Fragile X Syndrome

Sources:
²¹Genetics Home Reference, ⁴²NIH Rare Diseases, ³³MedlinePlus, ⁶³Wikipedia, ⁴⁶OMIM, ³²MalaCards
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MedlinePlus:³³ 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: Fragile X Syndrome, also known as fraxa syndrome, is related to down syndrome and epilepsy syndrome, and has symptoms including speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia, mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly and narrow face. An important gene associated with Fragile X Syndrome is FMR1 (fragile X mental retardation 1), and among its related pathways are GABA A receptor activation and SIDS Susceptibility Pathways. The compounds hydrofluoric acid and folate have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related mouse phenotypes are endocrine/exocrine gland and integument.

Genetics Home Reference:²¹ 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:⁴² 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. fragile x syndrome is caused by a change in the fmr1 gene. fragile x syndrome is inherited in an x-linked dominant pattern. last updated: 6/23/2011

Wikipedia:⁶³ Fragile X syndrome (FXS), also known as Martin–Bell syndrome, or Escalante\'s syndrome (more commonly... more...

Description from OMIM:⁴⁶ 300624

Aliases & Classifications for Fragile X Syndrome

Sources:
⁸Disease Ontology, ⁹diseasecard, ⁶³Wikipedia, ⁴²NIH Rare Diseases, ²⁰GeneTests, ²²GTR, ²¹Genetics Home Reference, ⁴⁶OMIM, ¹⁰DISEASES, ⁴⁴Novoseek, ⁴⁸Orphanet, ³³MedlinePlus, ⁶⁰UMLS, ³⁴MeSH, ²⁷ICD9CM, ³⁹NCIt, ⁵⁶SNOMED-CT, ³⁵MESH via Orphanet, ²⁶ICD10 via Orphanet, ⁵⁷SNOMED-CT via Orphanet, ⁶¹UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Endocrine diseases

ICD10: ²⁶

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Other chromosome abnormalities, not elsewhere classified

Fragile X chromosome

Characteristics (Orphanet epidemiological data):

⁴⁸

fragile x syndrome:
Inheritance: X-linked dominant; Prevalence: 1-5/10000; Age of onset: Childhood; Age of death: Normal

Aliases & Descriptions:

fragile x syndrome ⁸ ⁹ ⁶³ ⁴² ²⁰ ²² ²¹ ⁴⁶ ¹⁰ ⁴⁴ ⁴⁸ ³³ ⁶⁰

fraxa syndrome ⁶³ ⁴² ²¹ ⁴⁴ ⁴⁸ ⁶⁰

martin-bell syndrome ⁸ ⁶³ ⁴² ²¹ ⁴⁸

marker x syndrome ⁸ ⁶³ ⁴² ²¹

fxs ⁶³ ⁴² ²¹ ⁴⁸

fra syndrome ⁶³ ⁴² ²¹

x-linked mental retardation and macroorchidism ⁶³ ²¹

x-linked mental retardation and macro-orchidism ⁴²

fragile x mental retardation syndrome ⁸

frax syndrome ⁴⁸

External Ids:

Disease Ontology⁸ DOID:14261

MeSH³⁴ D005600, C531683

ICD9CM²⁷ 759.83

NCIt³⁹ C84717

OMIM⁴⁶ 300624

SNOMED-CT⁵⁶ 390007001, 613003

MESH via Orphanet³⁵ D005600

ICD10 via Orphanet²⁶ Q99.2

SNOMED-CT via Orphanet⁵⁷ 254287005, 613003

UMLS via Orphanet⁶¹ C0016667, C0751156

UMLS⁶⁰ C0016667

Related Diseases for Fragile X Syndrome

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
See all sources

Diseases in the Fragile X Syndrome family:

Fragile Xe Syndrome	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/GeneDecks gene sharing:

(show top 50) (show all 77)

id	Related Disease	Score	Top Affiliating Genes
1	down syndrome	30.9	FMR1, MECP2
2	epilepsy syndrome	30.6	MAP1B, GRM5, MECP2, FMR1
3	intellectual disability	30.6	TSPAN7, TMEM185A, PAH, FXR2, FXR1, CYFIP1
4	premature ovarian failure	30.6	FMR1
5	fragile xe syndrome	30.5	AFF2, FRAXE
6	fragile x-associated tremor/ataxia syndrome	30.5	FMR1, FRAXA
7	attention deficit hyperactivity disorder	30.3	SLC6A4
8	myotonic dystrophy	30.3	FMR1, HTT, AFF2, SIX5
9	adult syndrome	10.7
10	autism spectrum disorder	10.6
11	neuronitis	10.4
12	n syndrome	10.4
13	williams syndrome	10.4
14	learning disability	10.4
15	west syndrome	10.3
16	prader-willi syndrome	10.3
17	turner syndrome	10.3
18	factor x deficiency	10.2
19	cerebritis	10.2
20	metabolic syndrome x	10.2
21	anxiety disorder	10.2
22	fragile x syndrome type 1	10.2
23	fragile x syndrome type 2	10.2
24	fragile x syndrome type 3	10.2
25	bone fracture	10.1
26	neurofibromatosis	10.1
27	rett syndrome	10.1
28	status epilepticus	10.1
29	cherubism	10.1
30	williams-beuren syndrome	10.1
31	angelman syndrome	10.1
32	huntington's disease	10.1
33	achondroplasia	10.1
34	friedreich ataxia	10.1
35	werner syndrome	10.1
36	diabetes insipidus	10.1
37	premature menopause	10.1
38	cornelia de lange syndrome	10.1
39	duchenne muscular dystrophy	10.1
40	alzheimer's disease	10.1
41	congenital nystagmus	10.1
42	mutism	10.1
43	infertility	10.1
44	fetal alcohol syndrome	10.1
45	batten disease	10.1
46	nephrogenic diabetes insipidus	10.1
47	adie syndrome	10.1
48	velocardiofacial syndrome	10.1
49	dysostosis	10.1
50	hepatitis	10.1

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

Clinical Features for Fragile X Syndrome

Sources:
⁴⁶OMIM, ⁴⁸Orphanet
See all sources

speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
narrow face
aortic root dilatation/dilation/aneurysm
long face
fragile chromosome x site
x-linked dominant inheritance
psychosis/schizophrenia/maniac disorder
chronic/relapsing otitis
auto-aggressivity/auto-mutilation
hypotonia
humour troubles/anxiety/depression/apathy/euphoria/irritability
intellectual deficit/mental/psychomotor retardation/learning disability
seizures/epilepsy/absences/spasms/status epilepticus

cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
frontal bossing/prominent forehead
prognathism/prognathia
macroorchidism/macrotestes
prominent/bat ears
autism/autistic disoders
hyperactivity/attention deficit
strabismus/squint
hyperextensible joints/articular hyperlaxity
nasal congestion/sinusitis/rhinitis/rhinorrhea
gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
flat foot
macrocephaly/macrocrania/megalocephaly/megacephaly

Drugs & Therapeutics for Fragile X Syndrome

Sources:
⁵CenterWatch, ⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶⁰UMLS, ⁴⁰NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Fragile X Syndrome

Drug clinical trials:

Search ClinicalTrials for Fragile X Syndrome

Search NIH Clinical Center for Fragile X Syndrome

Search CenterWatch for Fragile X Syndrome

Genetic Tests for Fragile X Syndrome

Sources:
²⁰GeneTests, ²²GTR
See all sources

Genetic tests related to Fragile X Syndrome:

id	Genetic test	Affiliating Genes
1	Fragile X Syndrome²⁰ ²²	FMR1

Anatomical Context for Fragile X Syndrome

Sources:
³²MalaCards
See all sources

MalaCards organs/tissues related to Fragile X Syndrome:

³²

Brain, Testes, Eye, Amygdala, Cerebellum, Cortex, Pituitary, Skin, Prefrontal cortex, Heart, Adrenal gland, Hypothalamus, Temporal lobe, Thalamus

Animal Models for Fragile X Syndrome or affiliated genes

Sources:
³⁶MGI
See all sources

MGI Mouse Phenotypes related to Fragile X Syndrome:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland phenotype	MP:0005379	10.1	HTT, MECP2, GRM5, SIX5, SLC6A4, FXR1
2	integument phenotype	MP:0010771	10.0	MAP1B, SLC6A4, FXR2, GRM5, AFF2, MECP2
3	reproductive system phenotype	MP:0005389	9.9	HTT, MECP2, GRM5, MAP1B, SIX5, FXR1
4	nervous system phenotype	MP:0003631	9.8	SLC6A4, FXR2, FMR1, CYFIP1, MAP1B, GRM5
5	behavior/neurological phenotype	MP:0005386	9.8	MAP1B, PAH, SLC6A4, FXR2, FXR1, GRM5
6	growth/size phenotype	MP:0005378	9.6	SLC6A4, FXR1, MAP1B, GRM5, NR1H4, AFF2

Publications for Fragile X Syndrome

Sources:
⁵⁰PubMed
See all sources

Articles related to Fragile X Syndrome:

(show top 50) (show all 804)

id	Title	Authors	Year
1	Increasing our understanding of human cognition through the study of fragile X syndrome. (23723176)	Cook D.... Murai K.K.	2014
2	Neurochemical evaluation of brain function with (1) H magnetic resonance spectroscopy in patients with fragile X syndrome. (24259304)	Utine G.E.... AlikaA9ifoA9lu M.	2014
3	Homicide, fragile X syndrome, and mental retardation. (24402223)	Telles L.E.... Rosa R.F.	2013
4	Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development. (24232444)	Pop A.S.... Gasparini F.	2013
5	Neural substrates of executive dysfunction in fragile X-associated tremor/ataxia syndrome (FXTAS): a brain potential study. (22918986)	Yang J.C.... Olichney J.M.	2013
6	Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome. (23298734)	Battistella G.... Jacquemont S.	2013
7	Behavioral phenotype of fragile X syndrome in adolescence and adulthood. (22264109)	Smith L.E.... Greenberg J.S.	2012
8	Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial. (22993294)	Berry-Kravis E.M.... Hagerman R.J.	2012
9	Minocycline treatment reverses ultrasonic vocalization production deficit in a mouse model of Fragile X Syndrome. (22265702)	Rotschafer S.E.... Razak K.A.	2012
10	Molecular and cellular aspects of mental retardation in the Fragile X syndrome: from gene mutation/s to spine dysmorphogenesis. (22351071)	De Rubeis S.... Bagni C.	2012
11	Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond. (21796106)	Gross C.... Bassell G.J.	2012
12	Insular volume reduction in fragile X syndrome. (21291994)	Cohen J.D.... Reiss A.L.	2011
13	The GABA(A) receptor agonist THIP ameliorates specific behavioral deficits in the mouse model of fragile X syndrome. (22067669)	Olmos-Serrano J.L.... Burns M.P.	2011
14	Modulation of behavioral phenotypes by a muscarinic M1 antagonist in a mouse model of fragile X syndrome. (21487657)	Veeraragavan S.... Paylor R.	2011
15	Rare intranuclear inclusions in the brains of 3 older adult males with fragile x syndrome: implications for the spectrum of fragile x-associated disorders. (21572337)	Hunsaker M.R.... Hagerman P.J.	2011
16	Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening. (20168238)	Hantash F.M.... Strom C.M.	2010
17	Maternal responsivity predicts language development in young children with fragile X syndrome. (20025359)	Warren S.F.... Marquis J.	2010
18	Dendritic spine instability and insensitivity to modulation by sensory experience in a mouse model of fragile X syndrome. (20861447)	Pan F.... Gan W.B.	2010
19	The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome. (20843831)	Kumari D.... Usdin K.	2010
20	Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome. (20838083)	Godler D.E.... Loesch D.Z.	2010
21	Valproic acid and ADHD symptoms in fragile X syndrome: more evidence is needed. (20734428)	Sahu J.K.	2010
22	Region-specific alterations in brain development in one- to three-year-old boys with fragile X syndrome. (20439717)	Hoeft F.... Reiss A.L.	2010
23	Phonological accuracy and intelligibility in connected speech of boys with fragile X syndrome or Down syndrome. (19641081)	Barnes E.... Sideris J.	2009
24	Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. (19367323)	Rodriguez-Revenga L.... MilA M.	2009
25	The role of ZF5 and CGGBP-20 transcription factors in expression regulation of human FMR1 gene responsible for X-fragile syndrome]. (20141036)	GulyA- P.V.... Perevozchikov A.P.	2009
26	Ras signaling mechanisms underlying impaired GluR1-dependent plasticity associated with fragile X syndrome. (18667617)	Hu H.... Zhu J.J.	2008
27	Evidence of depressive symptoms in fragile-X syndrome premutated females. (18628675)	Rodriguez-Revenga L.... MilA M.	2008
28	Fragile X syndrome and epilepsy. (18839028)	Qiu L.F.... Xiong Z.Q.	2008
29	A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study. (18580686)	Metcalfe S.... Cohen J.	2008
30	The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome. (18608667)	Brega A.G.... Grigsby J.	2008
31	The Epigenetics of Fragile X Syndrome. (18371387)	Warren S.T.	2007
32	Multiple Gq-coupled receptors converge on a common protein synthesis-dependent long-term depression that is affected in fragile X syndrome mental retardation. (17959805)	Volk L.J.... Huber K.M.	2007
33	Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). (16332642)	Greco C.M.... Hagerman P.J.	2006
34	Intrafamilial variability in fragile X-associated tremor/ataxia syndrome. (16124012)	Peters N.... BAPtzel K.	2006
35	Video analysis of sensory-motor features in infants with fragile X syndrome at 9-12 months of age. (16172809)	Baranek G.T.... Mirrett P.L.	2005
36	Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS). (15876460)	Van Dam D.... De Deyn P.P.	2005
37	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. (11854169)	Dombrowski C.... Rousseau F.	2002
38	FMR1 and the fragile X syndrome: human genome epidemiology review. (11545690)	Crawford D.C.... Sherman S.L.	2001
39	Sequence-specific RNA binding by a Nova KH domain: implications for paraneoplastic disease and the fragile X syndrome. (10676814)	Lewis H.A.... Burley S.K.	2000
40	Cytogenetic diagnosis of fragile X syndrome: study of 305 suspected cases in Saudi Arabia. (17322660)	Iqbal M.A.... Ozand P.	2000
41	Dissecting FMR1, the protein responsible for fragile X syndrome, in its structural and functional domains. (10496225)	Adinolfi S.... Pastore A.	1999
42	Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome. (10331599)	Taylor A.K.... Hagerman R.J.	1999
43	Spatial cognition in males with Fragile-X syndrome: evidence for a neuropsychological phenotype. (10369098)	Cornish K.M.... Cross G.	1999
44	Fragile X syndrome with FMR1 and FMR2 deletion. (10424820)	Moore S.J.... Dean J.C.	1999
45	In vitro reactivation of the FMR1 gene involved in fragile X syndrome. (9384610)	Chiurazzi P.... Neri G.	1998
46	Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection. (8530006)	El-Aleem A.A.... Stuhrmann M.	1995
47	Fragile X syndrome. (7992687)	Laxova R.	1994
48	Association of fragile X syndrome with delayed replication of the FMR1 gene. (8324827)	Hansen R.S.... Laird C.D.	1993
49	Molecular studies of the fragile X syndrome. (1605194)	Knight S.J.... Nakahori Y.	1992
50	Fragile X syndrome: current knowledge]. (1364151)	Pellissier M.C.... Mattei J.F.	1992

Genes related to Fragile X Syndrome

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc., ⁴⁶OMIM, ⁴⁸Orphanet, ⁶²UniProtKB/Swiss-Prot, ²⁰GeneTests
See all sources

Genes related to Fragile X Syndrome:

(show top 50) (show all 62)

id	Symbol	Description	Score	Implication
1	FMR1	fragile X mental retardation 1	20.20	Molecular basis known ⁴⁶ Causative germline mutation ⁴⁸ Causative variation ⁶² Genetic Tests ²⁰ GeneCards inferred : Publications, Disorders, Proteins, Summaries (show sections)
2	FRAXA	fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)	19.85	Molecular basis known ⁴⁶ GeneCards inferred : Publications, Disorders (show sections)
3	TSPAN7	tetraspanin 7	19.55	GeneCards inferred : Disorders, Summaries (show sections)
4	MECP2	methyl CpG binding protein 2 (Rett syndrome)	19.20	GeneCards inferred : Publications, Disorders (show sections)
5	NR1H4	nuclear receptor subfamily 1, group H, member 4	18.88	GeneCards inferred : Publications, Disorders (show sections)
6	HTT	huntingtin	18.56	GeneCards inferred : Publications, Disorders (show sections)
7	AFF2	AF4/FMR2 family, member 2	18.23	GeneCards inferred : Publications, Disorders (show sections)
8	PAH	phenylalanine hydroxylase	17.91	GeneCards inferred : Disorders (show sections)
9	GRM5	glutamate receptor, metabotropic 5	17.59	GeneCards inferred : Publications, Disorders (show sections)
10	SLC6A4	solute carrier family 6 (neurotransmitter transporter), member 4	17.27	GeneCards inferred : Publications, Disorders (show sections)
11	SIX5	SIX homeobox 5	16.94	GeneCards inferred : Publications, Disorders (show sections)
12	FRAXE	fragile site, folic acid type, rare, fra(X)(q28) E	16.62	GeneCards inferred : Publications, Disorders (show sections)
13	FXR2	fragile X mental retardation, autosomal homolog 2	16.30	GeneCards inferred : Publications, Disorders (show sections)
14	FXR1	fragile X mental retardation, autosomal homolog 1	15.98	GeneCards inferred : Publications, Disorders (show sections)
15	CYFIP1	cytoplasmic FMR1 interacting protein 1	15.65	GeneCards inferred : Publications, Disorders (show sections)
16	MAP1B	microtubule-associated protein 1B	15.33	GeneCards inferred : Disorders (show sections)
17	FMR1-AS1	FMR1 antisense RNA 1	15.00	GeneCards inferred : Publications, Disorders (show sections)
18	RABEP2	rabaptin, RAB GTPase binding effector protein 2	14.68	GeneCards inferred : Publications, Disorders (show sections)
19	NOVA2	neuro-oncological ventral antigen 2	14.35	GeneCards inferred : Publications, Disorders (show sections)
20	TMEM185A	transmembrane protein 185A	14.03	GeneCards inferred : Disorders (show sections)
21	LEO1	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	13.71	GeneCards inferred : Publications, Disorders (show sections)
22	SLC6A8	solute carrier family 6 (neurotransmitter transporter), member 8	13.39	GeneCards inferred : Disorders (show sections)
23	FTSJ1	FtsJ RNA methyltransferase homolog 1 (E. coli)	13.06	GeneCards inferred : Disorders (show sections)
24	KCNG1	potassium voltage-gated channel, subfamily G, member 1	12.74	GeneCards inferred : Disorders (show sections)
25	KCNF1	potassium voltage-gated channel, subfamily F, member 1	12.42	GeneCards inferred : Disorders (show sections)
26	CGGBP1	CGG triplet repeat binding protein 1	12.10	GeneCards inferred : Publications, Disorders (show sections)
27	MTFMT	mitochondrial methionyl-tRNA formyltransferase	11.77	GeneCards inferred : Disorders (show sections)
28	WNT7A	wingless-type MMTV integration site family, member 7A	11.45	GeneCards inferred : Publications, Disorders (show sections)
29	GABRA1	gamma-aminobutyric acid (GABA) A receptor, alpha 1	11.13	GeneCards inferred : Publications, Disorders (show sections)
30	FHL1	four and a half LIM domains 1	10.81	GeneCards inferred : Disorders, Functions (show sections)
31	HIST4H4	histone cluster 4, H4	10.48	GeneCards inferred : Publications, Disorders (show sections)
32	DLG3	discs, large homolog 3 (Drosophila)	10.16	GeneCards inferred : Disorders (show sections)
33	NFYB	nuclear transcription factor Y, beta	9.84	GeneCards inferred : Disorders (show sections)
34	ATN1	atrophin 1	9.52	GeneCards inferred : Disorders (show sections)
35	GTPBP1	GTP binding protein 1	9.19	GeneCards inferred : Disorders (show sections)
36	DLGAP3	discs, large (Drosophila) homolog-associated protein 3	8.87	GeneCards inferred : Disorders (show sections)
37	NUFIP2	nuclear fragile X mental retardation protein interacting protein 2	8.55	GeneCards inferred : Disorders (show sections)
38	EIF4E	eukaryotic translation initiation factor 4E	8.23	GeneCards inferred : Publications, Disorders (show sections)
39	HPRT1	hypoxanthine phosphoribosyltransferase 1	7.90	GeneCards inferred : Publications, Disorders (show sections)
40	DICER1	dicer 1, ribonuclease type III	7.58	GeneCards inferred : Publications, Disorders (show sections)
41	EIF2AK2	eukaryotic translation initiation factor 2-alpha kinase 2	7.26	GeneCards inferred : Publications, Disorders (show sections)
42	CYFIP2	cytoplasmic FMR1 interacting protein 2	6.94	GeneCards inferred : Publications, Disorders (show sections)
43	HELLS	helicase, lymphoid-specific	6.61	GeneCards inferred : Publications, Disorders (show sections)
44	TDRD3	tudor domain containing 3	6.29	GeneCards inferred : Publications, Disorders (show sections)
45	MAOA	monoamine oxidase A	5.97	GeneCards inferred : Publications, Disorders (show sections)
46	WRN	Werner syndrome, RecQ helicase-like	5.65	GeneCards inferred : Publications, Disorders (show sections)
47	PPP2R4	protein phosphatase 2A activator, regulatory subunit 4	5.32	GeneCards inferred : Publications, Disorders (show sections)
48	CRHR1	corticotropin releasing hormone receptor 1	5.00	GeneCards inferred : Publications, Disorders (show sections)
49	GNRH1	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	4.68	GeneCards inferred : Publications, Disorders (show sections)
50	HNRNPK	heterogeneous nuclear ribonucleoprotein K	4.35	GeneCards inferred : Publications, Disorders (show sections)

Products for genes related to Fragile X Syndrome disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	45	45	47
2	LSBio	-	-	50

Genetic Variations for Fragile X Syndrome

Sources:
⁶²UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Fragile X Syndrome:

⁶²

id	Symbol	AA change	Variation ID	SNP ID
1	FMR1	p.Ile304Asn	VAR_005234

Expression for genes affiliated with Fragile X Syndrome

Sources:
¹BioGPS, ¹⁵Gene Expression Omnibus DataSets
See all sources

Expression patterns in normal tissues for genes affiliated with Fragile X Syndrome

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

Pathways for genes affiliated with Fragile X Syndrome

Sources:
⁵³Reactome, ⁵²R&D Systems, ¹²EMD Millipore, ³⁷NCBI BioSystems Database, ²⁹KEGG, ⁴Cell Signaling Technology
See all sources

Pathways related to Fragile X Syndrome according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	GABA A receptor activation⁵³ Hide members Synaptic Neurotransmission: GABAergic Inhibition⁵² GABA signaling in brain¹²	10.4	GRM5, MECP2
2	SIDS Susceptibility Pathways³⁷	10.3	PAH, SLC6A4, MECP2
3	RNA transport²⁹	10.2	FXR2, FMR1, CYFIP1, FXR1
4	Neuroscience⁴	10.2	HTT, FMR1, MECP2, FXR2, FXR1

Compounds for genes affiliated with Fragile X Syndrome

Sources:
⁴⁴Novoseek, ⁴⁹PharmGKB, ¹¹DrugBank, ²⁴HMDB, ²⁸IUPHAR, ²BitterDB, ⁵⁹Tocris Bioscience
See all sources

Compounds related to Fragile X Syndrome according to GeneCards/GeneDecks:

(show all 13)

id	Compound	Score	Top Affiliating Genes
1	hydrofluoric acid⁴⁴	10.6	GRM5, SLC6A4
2	folate⁴⁴	10.5	PAH, AFF2, MECP2, FMR1
3	lithium⁴⁴ ⁴⁹ ¹¹ ²⁴	13.5	SLC6A4, MAP1B, FMR1
4	gaba⁴⁴	10.4	SLC6A4, MAP1B, GRM5, MECP2, FMR1
5	haloperidol⁴⁴ ²⁸ ² ⁴⁹ ¹¹	14.4	GRM5, RABEP2, SLC6A4
6	nmda⁴⁴ ²⁸	11.4	HTT, GRM5, MAP1B, SLC6A4
7	hpaii⁴⁴	10.4	MECP2, FMR1
8	dopamine⁴⁴ ²⁸ ¹¹ ²⁴	13.4	HTT, GRM5, RABEP2, SLC6A4, PAH
9	testosterone⁴⁴ ⁵⁹ ¹¹ ²⁴	13.3	SLC6A4, NR1H4, MECP2, HTT, FMR1
10	oligonucleotide⁴⁴	10.2	FMR1, HTT, MECP2, MAP1B, PAH
11	glutamate⁴⁴	10.2	SLC6A4, GRM5, MECP2, HTT, FMR1
12	cocaine⁴⁴ ¹¹	11.2	GRM5, RABEP2, SLC6A4
13	arginine⁴⁴	9.9	FMR1, MECP2, NR1H4, SLC6A4, PAH