MECP2 gene related symptoms and diseases

All the information presented here about the MECP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, 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 MECP2 gene

Symptoms // Phenotype	% Cases
Seizures	Common - Between 50% and 80% cases
Intellectual disability, severe	Common - Between 50% and 80% cases
Intellectual disability	Common - Between 50% and 80% cases
Global developmental delay	Common - Between 50% and 80% cases
Microcephaly	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with MECP2 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Spasticity
EEG abnormality
Autism
Generalized hypotonia
Short stature
Scoliosis
Autistic behavior
Macrotia

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Rare diseases associated to MECP2 gene

Here you will find a list of rare diseases related to the MECP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

Alternate names

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome, mental retardation, x-linked 79, mrx79, ppmx, mental retardation, x-linked, with spasticity, mrx16, ppm-x, mental retardation with psychosis, pyramidal signs, and macroorchidism, mental retardation, x-linked 16

Description

X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

SOURCES: ORPHANET OMIM

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Alternate names

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as mrx, mrx18, mental retardation, x-linked 78, mrx78, mental retardation, x-linked 18

Description

Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

Most common symptoms of X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

SOURCES: MESH OMIM ORPHANET

RETT SYNDROME

Description

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Most common symptoms of RETT SYNDROME

Seizures
Short stature
Microcephaly
Scoliosis
Ataxia

More info about RETT SYNDROME

SOURCES: ORPHANET

ATYPICAL RETT SYNDROME

Alternate names

ATYPICAL RETT SYNDROME Is also known as atypical rtt, rett syndrome variant, autism, dementia, ataxia, and loss of purposeful hand use, rts

Description

Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term).

Most common symptoms of ATYPICAL RETT SYNDROME

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about ATYPICAL RETT SYNDROME

SOURCES: OMIM ORPHANET

TRISOMY XQ28

Alternate names

TRISOMY XQ28 Is also known as distal duplication xq, telomeric duplication xq

Description

Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.

Most common symptoms of TRISOMY XQ28

Global developmental delay
Short stature
Cryptorchidism
Ptosis
Epicanthus

More info about TRISOMY XQ28

SOURCES: ORPHANET

ATELOSTEOGENESIS TYPE I

Alternate names

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome, aoi, giant cell chondrodysplasia, mental retardation, x-linked, with recurrent respiratory infections, spondylo-humero-femoral dysplasia, atelosteogenesis type 1, mental retardation, x-linked, syndromic, lubs type, ao1

Description

Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

Most common symptoms of ATELOSTEOGENESIS TYPE I

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about ATELOSTEOGENESIS TYPE I

SOURCES: OMIM ORPHANET

SYSTEMIC LUPUS ERYTHEMATOSUS

Alternate names

SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus, sle

Description

Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

Most common symptoms of SYSTEMIC LUPUS ERYTHEMATOSUS

Seizures
Short stature
Cognitive impairment
Anemia
Fatigue

More info about SYSTEMIC LUPUS ERYTHEMATOSUS

SOURCES: OMIM ORPHANET

ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

Alternate names

ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD Is also known as hyperactivity of childhood

Description

A behavior disorder in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity.

Most common symptoms of ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

Depressivity
Hyperactivity
Autism
Anxiety
Attention deficit hyperactivity disorder

More info about ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

SOURCES: OMIM

SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY

Alternate names

SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY Is also known as severe congenital encephalopathy due to mecp2 mutation

Description

Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.

Most common symptoms of SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY

SOURCES: ORPHANET MESH OMIM

AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3

Description

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Most common symptoms of AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3

Intellectual disability
Seizures
Delayed speech and language development
Atrial septal defect
Autism

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3

SOURCES: OMIM

Search interest in MECP2

Potential gene panels for MECP2 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

MECP2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to MECP2 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Accelerate your rare disease diagnosis with us

Rare diseases associated to MECP2 gene

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

Alternate names

Description

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Alternate names

Description

Most common symptoms of X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

RETT SYNDROME

Description

Most common symptoms of RETT SYNDROME

ATYPICAL RETT SYNDROME

Alternate names

Description

Most common symptoms of ATYPICAL RETT SYNDROME

TRISOMY XQ28

Alternate names

Description

Most common symptoms of TRISOMY XQ28

ATELOSTEOGENESIS TYPE I

Alternate names

Description

Most common symptoms of ATELOSTEOGENESIS TYPE I

SYSTEMIC LUPUS ERYTHEMATOSUS

Alternate names

Description

Most common symptoms of SYSTEMIC LUPUS ERYTHEMATOSUS

ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

Alternate names

Description

Most common symptoms of ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY

Alternate names

Description

Most common symptoms of SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY

AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3

Description

Most common symptoms of AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3

Search interest in MECP2

Potential gene panels for MECP2 gene

MitoMet®Plus aCGH Analysis Panel

MECP2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

MECP2 Deletion/Duplication Analysis Panel

MECP2 Deletion/Duplication Analysis (Prenatal Diagnosis) Panel

MECP2 Sequence Analysis Panel

MECP2 Sequence Analysis (Familial Mutation/Variant Analysis) Panel

MECP2 Sequence Analysis (Prenatal Diagnosis) Panel

PreSeek Non-invasive Prenatal Gene Sequencing Screen Panel

GeneAware Complete Panel Version 2 (Female) Panel

Complete Rett Syndrome Evaluation Panel

Rett Syndrome (MECP2) Duplication/Deletion Test Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

MECP2 Sequencing and CNV Evaluation Panel

Syndromic Autism Panel Panel

NGS XLID Panel Panel

Rett-Angelman Syndrome 2nd-Tier Sequencing Panel Panel

NGS Epilepsy/Seizure Panel Panel

Rett syndrome Panel

Hereditary Spastic Paraplegia Panel Panel

Rett Syndrome Panel

Autism Spectrum Disorders 53-Gene Panel Panel

MECP2-Related Disorders Panel

MECP2 deletion/duplication Panel

Rett Syndrome, MECP2, Deletion/Duplication Panel

Rett Syndrome, MECP2, Sequencing and Deletion/Duplication Panel

Rett Syndrome, MECP2, Sequencing Panel

Childhood Epilepsy Panel

Comprehensive Brain Malformation Panel Panel

Epilepsy/Seizure Panel

Infantile Epilepsy Panel

Microcephaly Panel

Rett - Angelman Syndrome Panel