FMR1 gene related symptoms and diseases

All the information presented here about the FMR1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to FMR1 gene

Symptoms // Phenotype	% Cases
Premature ovarian insufficiency	Common - Between 50% and 80% cases
Intellectual disability	Common - Between 50% and 80% cases
Depressivity	Uncommon - Between 30% and 50% cases
Neonatal hypotonia	Uncommon - Between 30% and 50% cases
Obesity	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with FMR1 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Muscular hypotonia
Generalized hypotonia
Seizures
High palate
Postural instability
Aggressive behavior
Anxiety
Autism

And 178 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to FMR1 gene

Here you will find a list of rare diseases related to the FMR1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

Alternate names

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME Is also known as fxtas syndrome

Description

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.

Most common symptoms of FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

Intellectual disability
Seizures
Global developmental delay
Hearing impairment
Ataxia

More info about FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

SOURCES: MESH OMIM ORPHANET

PREMATURE OVARIAN FAILURE 1; POF1

Alternate names

PREMATURE OVARIAN FAILURE 1; POF1 Is also known as ovarian failure, premature, pof, primary ovarian insufficiency, fragile x-associated, pofx, hypergonadotropic ovarian failure, x-linked, premature ovarian failure, x-linked, fragile x premature ovarian failure

Description

Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, {233300}) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years (Coulam, 1982). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation (Bione et al., 1998). ReviewsRossetti et al. (2017) reviewed the genetics of primary ovarian insufficiency, noting that the significance of this disorder was increasing because of the increasing number of women desiring conception beyond 30 years of age, at which point POF prevalence is more than 1%. Genetic Heterogeneity of Premature Ovarian FailureMutations in genes identified within a region defined as POF2 (Xq13.3-q21.1) have been found to cause other forms of POF: POF2A (OMIM ) by mutation in the DIAPH2 gene (OMIM ) and POF2B (OMIM ) by mutation in the POF1B gene (OMIM ). See also POF3 (OMIM ), caused by mutation in the FOXL2 gene (OMIM ) on chromosome 3q22; POF4 (see {300510}), caused by mutation in the BMP15 gene (OMIM ) on chromosome Xp11; POF5 (OMIM ), caused by mutation in the NOBOX gene (OMIM ) on chromosome 7q35; POF6 (OMIM ), caused by mutation in the FIGLA gene (OMIM ) on chromosome 2p13; POF7 (OMIM ), caused by mutation in the NR5A1 gene (OMIM ) on chromosome 9q33; POF8 (OMIM ), caused by mutation in the STAG3 gene (OMIM ) on chromosome 7q22; POF9 (OMIM ), caused by mutation in the HFM1 gene (OMIM ) on chromosome 1p22; POF10 (OMIM ), caused by mutation in the MCM8 gene (OMIM ) on chromosome 20p12; POF11 (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; POF12 (OMIM ), caused by mutation in the SYCE1 gene (OMIM ) on chromosome 10q26; POF13 (OMIM ), caused by mutation in the MSH5 gene (OMIM ) on chromosome 6p21; and POF14 (OMIM ), caused by mutation in the GDF9 gene (OMIM ) on chromosome 5q31.In 100 patients with primary or secondary amenorrhea before the age of 40 years, who also exhibited elevated FSH, Bouilly et al. (2016) screened for variants in 19 POF-associated or candidate genes. The authors noted that 8 of the 19 mutation-positive patients carried a genetic defect in more than 1 gene, and that patients with 2 or more variants tended to have a younger age of onset and were more likely have primary rather than secondary amenorrhea. Bouilly et al. (2016) suggested that digenicity and possibly oligogenicity may contribute to POF, noting that this might account for the phenotypic variability and incomplete penetrance that have been observed in patients with POF.

Most common symptoms of PREMATURE OVARIAN FAILURE 1; POF1

Intellectual disability
High palate
Abnormality of metabolism/homeostasis
Sparse hair
Autoimmunity

More info about PREMATURE OVARIAN FAILURE 1; POF1

SOURCES: ORPHANET OMIM

FRAGILE X SYNDROME

Alternate names

FRAGILE X SYNDROME Is also known as marker x syndrome, fraxa syndrome, martin-bell syndrome, mental retardation, x-linked, associated with marxq28, fragile x mental retardation syndrome, frax syndrome, fxs, x-linked mental retardation and macroorchidism

Description

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

Most common symptoms of FRAGILE X SYNDROME

Intellectual disability
Seizures
Generalized hypotonia
Scoliosis
Strabismus

More info about FRAGILE X SYNDROME

SOURCES: OMIM ORPHANET

XQ27.3Q28 DUPLICATION SYNDROME

Alternate names

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28, dup(x)(q27.3q28), xq27.3-q28 microduplication syndrome, trisomy xq27.3-q28

Description

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

Most common symptoms of XQ27.3Q28 DUPLICATION SYNDROME

Intellectual disability
Global developmental delay
Short stature
Generalized hypotonia
Growth delay

More info about XQ27.3Q28 DUPLICATION SYNDROME

SOURCES: OMIM ORPHANET

SYMPTOMATIC FORM OF FRAGILE X SYNDROME IN FEMALE CARRIER

More info about SYMPTOMATIC FORM OF FRAGILE X SYNDROME IN FEMALE CARRIER

SOURCES: ORPHANET

Search interest in FMR1

Potential gene panels for FMR1 gene

FRX Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the FMR1 gene.

FMR1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to FMR1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to FMR1 gene

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

Alternate names

Description

Most common symptoms of FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

PREMATURE OVARIAN FAILURE 1; POF1

Alternate names

Description

Most common symptoms of PREMATURE OVARIAN FAILURE 1; POF1

FRAGILE X SYNDROME

Alternate names

Description

Most common symptoms of FRAGILE X SYNDROME

XQ27.3Q28 DUPLICATION SYNDROME

Alternate names

Description

Most common symptoms of XQ27.3Q28 DUPLICATION SYNDROME

SYMPTOMATIC FORM OF FRAGILE X SYNDROME IN FEMALE CARRIER

Search interest in FMR1

Potential gene panels for FMR1 gene

FRX Panel

FMR1 Sequence Analysis Panel

FMR1 Sequence Analysis (Familial Mutation/Variant Analysis) Panel

FMR1 Sequence Analysis (Prenatal Diagnosis) Panel

GeneAware Complete Panel Version 2 (Female) Panel

GeneAware Basic Panel Version 2 (Female) Panel

GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel

GeneAware ACMG/ACOG Panel Version 2 (Female) Panel

Syndromic Autism Panel Panel

NGS XLID Panel Panel

Fragile X syndrome Panel

Fragile X syndrome Panel

Fragile X Syndrome and FMR1-Related Disorders Panel

Fragile X Panel

Fragile X-associated tremor/ataxia syndrome Panel

Fragile X syndrome Panel

Fragile X-associated premature ovarian insufficiency Panel

FMR1, CGG Repeats (includes Southern Blot if positive) Panel

FMR1, Del-Dup Targeted Exonic Microarray Panel

Test for FMR1-Related Disorders Panel

Fragile X syndrome Panel

Fragile X - Related Disorders Panel

Fragile X syndrome Panel

FMR1-Related Disorders Test Panel

FMR1 Related Disorders Panel

FMR1-Related Primary Ovarian Insufficiency (POI) Panel

Fragile X Syndrome Panel

Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) Panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

X-linked Intellectual Disabilities Sequencing Panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

FMR1-related disorders Panel

Fragile X Syndrome, DNA Analysis, Prenatal With Southern Blot Analysis Panel

Fragile X Syndrome, PCR With Reflex to Southern Blot Panel

Fragile X, PCR and Southern blot Analysis Panel

FRAGILE X (FMR1) Panel

Fragile X Panel

FMR1-Related Disorders Panel

FMR1 CGG trinucleotide repeat testing Panel

FMR1 Deletion/duplication analysis Panel

Non-Specific Intellectual Disability Panel Panel

X-linked Non-Specific Intellectual Disability Panel Panel

Ataxia Exome Panel Panel

Fragile X Syndrome Panel

Fragile X Tremor-Ataxia Syndrome Panel

Fragile X Syndrome Panel

Fragile X Panel

Fragile X syndrome Panel

Fragile X Syndrome Panel

Fragile X syndrome Panel

Fragile X (FMR1) with Reflex to Methylation Analysis Panel

Fragile X (FMR1) with Reflex to Methylation Analysis, Fetal Panel

Genetic Carrier Screen, (CF, FXS, and SMA) with Reflex to Methylation Panel

Fragile X Mutation Panel

FMR1 - Related Disorders Panel

Autism/Intellectual Disability/Multiple Anomalies Panel