MCID: FMR019
MIFTS: 15

Fmr1 Disorders

Categories: Neuronal diseases

Aliases & Classifications for Fmr1 Disorders

MalaCards integrated aliases for Fmr1 Disorders:

Name: Fmr1 Disorders 24

Classifications:



Summaries for Fmr1 Disorders

MalaCards based summary : Fmr1 Disorders is related to fragile x tremor/ataxia syndrome and tremor. An important gene associated with Fmr1 Disorders is FMR1 (FMRP Translational Regulator 1). Affiliated tissues include brain, testes and bone.

Wikipedia : 74 FMR1 (fragile X mental retardation 1) is a human gene that codes for a protein called fragile X mental... more...

GeneReviews: NBK1384

Related Diseases for Fmr1 Disorders

Graphical network of the top 20 diseases related to Fmr1 Disorders:



Diseases related to Fmr1 Disorders

Symptoms & Phenotypes for Fmr1 Disorders

Drugs & Therapeutics for Fmr1 Disorders

Search Clinical Trials , NIH Clinical Center for Fmr1 Disorders

Genetic Tests for Fmr1 Disorders

Anatomical Context for Fmr1 Disorders

MalaCards organs/tissues related to Fmr1 Disorders:

40
Brain, Testes, Bone, Amygdala

Publications for Fmr1 Disorders

Articles related to Fmr1 Disorders:

(show top 50) (show all 118)
# Title Authors PMID Year
1
High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses. 61 24
21430544 2011
2
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. 24
31332380 2019
3
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. 24
31332381 2019
4
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders. 24
31178126 2019
5
Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles. 24
31050164 2019
6
Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2. 24
31342442 2019
7
The clinicians´ dilemma with mosaicism-an insight from inner cell mass biopsies. 24
31114858 2019
8
Allopregnanolone Treatment Improves Plasma Metabolomic Profile Associated with GABA Metabolism in Fragile X-Associated Tremor/Ataxia Syndrome: a Pilot Study. 24
30187385 2019
9
Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities. 24
30678024 2019
10
Closing the Gender Gap in Fragile X Syndrome: Review on Females with FXS and Preliminary Research Findings. 24
30642066 2019
11
CGG repeat length and AGG interruptions as indicators of fragile X-associated diminished ovarian reserve. 24
29267266 2018
12
Rare FMR1 gene mutations causing fragile X syndrome: A review. 24
29178241 2018
13
FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation. 24
30123240 2018
14
Fragile X-Associated Neuropsychiatric Disorders (FXAND). 24
30483160 2018
15
Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review. 24
30542367 2018
16
Recent advances in assays for the fragile X-related disorders. 24
28866801 2017
17
Open-Label Allopregnanolone Treatment of Men with Fragile X-Associated Tremor/Ataxia Syndrome. 24
28707277 2017
18
Insulin signaling misregulation underlies circadian and cognitive deficits in a Drosophila fragile X model. 24
27090306 2017
19
FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome. 24
28720156 2017
20
The ovarian response in fragile X patients and premutation carriers undergoing IVF-PGD: reappraisal. 24
28472405 2017
21
Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families. 24
28814538 2017
22
Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment. 24
28814540 2017
23
Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study. 24
28814542 2017
24
Metformin ameliorates core deficits in a mouse model of fragile X syndrome. 24
28504725 2017
25
Detecting mosaicism in trophectoderm biopsies: current challenges and future possibilities. 24
27738115 2017
26
Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions. 24
27862088 2017
27
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. 24
27797808 2016
28
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers. 24
27287737 2016
29
Hormone Replacement Therapy Versus the Combined Oral Contraceptive Pill in Premature Ovarian Failure: A Randomized Controlled Trial of the Effects on Bone Mineral Density. 24
27340881 2016
30
Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI). 24
27552334 2016
31
A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X-Related Disorders. 24
27528259 2016
32
Neuropsychiatry of fragile X-premutation carriers with and without fragile X-associated tremor-ataxia syndrome: implications for neuropsychology. 24
27355575 2016
33
Donor oocyte conception and pregnancy complications: a systematic review and meta-analysis. 24
26854328 2016
34
Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management. 24
27340021 2016
35
A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings. 24
27980694 2016
36
Diminished ovarian reserve is not observed in infertility patients with high normal CGG repeats on the fragile X mental retardation 1 (FMR1) gene. 24
26345686 2015
37
Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers. 24
25210937 2015
38
Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion. 24
24428240 2015
39
Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain. 24
26713318 2015
40
Fragile X syndrome: a review of associated medical problems. 24
25287458 2014
41
Distribution of AGG interruption patterns within nine world populations. 24
25606365 2014
42
Epidemiology of fragile X syndrome: a systematic review and meta-analysis. 24
24700618 2014
43
The significance of fragile X mental retardation gene 1 CGG repeat sizes in the normal and intermediate range in women with primary ovarian insufficiency. 24
24812319 2014
44
Neurodevelopmental disabilities in children with intermediate and premutation range fragile X cytosine-guanine-guanine expansions. 24
23266944 2014
45
Improving IQ measurement in intellectual disabilities using true deviation from population norms. 24
26491488 2014
46
Elevated levels of FMR1 mRNA in granulosa cells are associated with low ovarian reserve in FMR1 premutation carriers. 24
25153074 2014
47
Associated features in females with an FMR1 premutation. 24
25097672 2014
48
A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis. 24
24177047 2014
49
Development of mavoglurant and its potential for the treatment of fragile X syndrome. 24
24251408 2014
50
Live birth following serial vitrification of embryos and PGD for fragile X syndrome in a patient with the premutation and decreased ovarian reserve. 24
24062195 2013

Variations for Fmr1 Disorders

Expression for Fmr1 Disorders

Search GEO for disease gene expression data for Fmr1 Disorders.

Pathways for Fmr1 Disorders

GO Terms for Fmr1 Disorders

Sources for Fmr1 Disorders

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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19 FMA
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30 HMDB
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32 ICD10
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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