MRXSL
MCID: LBS001
MIFTS: 51

Lubs X-Linked Mental Retardation Syndrome (MRXSL)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Lubs X-Linked Mental Retardation Syndrome

MalaCards integrated aliases for Lubs X-Linked Mental Retardation Syndrome:

Name: Lubs X-Linked Mental Retardation Syndrome 56 12 25 73 43 71
Mecp2 Duplication Syndrome 56 12 24 52 25 73
Syndromic X-Linked Intellectual Disability Lubs Type 12 29 6 15
Trisomy Xq28 52 25 58 71
Mrxsl 56 12 52 73
Mental Retardation, X-Linked, Syndromic, Lubs Type 56 12 73
Mental Retardation, X-Linked Syndromic, Lubs Type 56 13 39
Mental Retardation, X-Linked, with Recurrent Respiratory Infections 56 12
X-Linked Intellectual Disability-Hypotonia-Recurrent Infections Syndrome 12
Mental Retardation X-Linked with Recurrent Respiratory Infections 73
Mental Retardation X-Linked Lubs Type 73
Xlmr Syndrome, Lubs Type 52
Telomeric Duplication Xq 58
Distal Duplication Xq 58

Characteristics:

Orphanet epidemiological data:

58
trisomy xq28
Age of onset: Antenatal,Neonatal; Age of death: adolescent,adult,early childhood,infantile,late childhood,young Adult;

OMIM:

56
Miscellaneous:
progressive disorder
allelic to rett syndrome
female carriers are unaffected or show neuropsychiatric features

Inheritance:
x-linked recessive


HPO:

31
lubs x-linked mental retardation syndrome:
Onset and clinical course progressive
Inheritance x-linked recessive inheritance


GeneReviews:

24
Penetrance Mecp2 duplications are believed to be completely penetrant in males.

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Lubs X-Linked Mental Retardation Syndrome

NIH Rare Diseases : 52 MECP2 duplication syndrome is a severe neurological and developmental disorder. Signs and symptoms include low muscle tone (hypotonia ) in infancy, developmental delay , severe intellectual disability , and progressive spasticity . Other signs and symptoms may include recurrent respiratory infections and seizures . Some people with MECP2 duplication syndrome may have autistic features, gastrointestinal problems, and/or mildly distinctive facial features. The syndrome is caused by having an extra copy (duplication) of the MECP2 gene , and inheritance is X-linked . The syndrome almost always occurs in males (who have one X chromosome ), but some females with the duplication on one of their two X chromosomes have some signs or symptoms. Rarely, females may have severe signs and symptoms, similar to those in males with the syndrome. Treatment is individualized and based on the signs and symptoms in each person. Treatment may involve routine management of feeding difficulties, infections, developmental delays, spasticity, and seizures. Respiratory infections are a major cause of death, with only half of people surviving past 25 years of age.

MalaCards based summary : Lubs X-Linked Mental Retardation Syndrome, also known as mecp2 duplication syndrome, is related to rett syndrome and mecp2 disorders, and has symptoms including seizures, ataxia and constipation. An important gene associated with Lubs X-Linked Mental Retardation Syndrome is MECP2 (Methyl-CpG Binding Protein 2), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and Androgen receptor signaling pathway. Affiliated tissues include eye, brain and cortex, and related phenotypes are delayed skeletal maturation and neurological speech impairment

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has material basis in duplication or triplication of the MECP2 gene on chromosome Xq28.

Genetics Home Reference : 25 MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, or muscle stiffness (rigidity). Individuals with MECP2 duplication syndrome have delayed development of motor skills such as sitting and walking. About half of individuals have seizures, often of the tonic-clonic type. This type of seizure involves a loss of consciousness, muscle rigidity, and convulsions and may not respond to medication. Some affected individuals experience the loss of previously acquired skills (developmental regression). Approximately half of individuals learn to walk, and about one-third of people with this condition require assistance when walking. Many individuals with MECP2 duplication syndrome have recurrent respiratory tract infections. These respiratory infections are a major cause of death in affected individuals, with only half surviving past age 25. MECP2 MECP2 MECP2

OMIM : 56 MECP2 duplication syndrome is an X-linked neurodevelopmental disorder characterized by severe to profound mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections. Only males are affected, although female carriers may have some mild neuropsychiatric features, such as anxiety. Submicroscopic Xq28 duplications encompassing MECP2 are considered nonrecurrent events, because the breakpoint locations and rearrangement sizes vary among affected individuals (summary by Ramocki et al., 2010). (300260)

UniProtKB/Swiss-Prot : 73 Mental retardation, X-linked, syndromic, Lubs type: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSL patients manifest mental retardation associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge.

GeneReviews: NBK1284

Related Diseases for Lubs X-Linked Mental Retardation Syndrome

Diseases related to Lubs X-Linked Mental Retardation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 rett syndrome 31.2 UBE3A SIN3A NCOR1 MECP2 GDI1 FOXG1
2 mecp2 disorders 31.0 MECP2 FOXG1
3 bruxism 30.3 MECP2 FOXG1 CDKL5
4 lennox-gastaut syndrome 30.2 MECP2 FOXG1 CDKL5
5 alacrima, achalasia, and mental retardation syndrome 29.3 UBE3A NLGN3 MECP2 HCFC1 FMR1
6 angelman syndrome 28.9 UBE3A NLGN3 MECP2 FMR1 CDKL5
7 autism spectrum disorder 28.4 UBE3A NLGN3 MECP2 FMR1 DLG4 BDNF
8 autism 27.8 UBE3A NLGN3 MECP2 GRM7 FOXG1 FMR1
9 mental retardation, x-linked, syndromic 13 11.6
10 mecp2-related severe neonatal encephalopathy 11.4
11 chromosome xq28 duplication syndrome 11.4
12 hypotonia 10.6
13 spasticity 10.5
14 infantile hypotonia 10.4
15 seizure disorder 10.4
16 hypertonia 10.4
17 visual epilepsy 10.3
18 epileptic encephalopathy, early infantile, 8 10.3 MECP2 IRAK1 GDI1
19 constipation 10.2
20 autosomal dominant non-syndromic intellectual disability 32 10.2 MECP2 FOXG1
21 infancy electroclinical syndrome 10.2 MECP2 FOXG1 CDKL5
22 epileptic encephalopathy, early infantile, 14 10.2 MECP2 CDKL5
23 valproate embryopathy 10.2 NLGN3 MECP2
24 epilepsy 10.2
25 epileptic encephalopathy, early infantile, 6 10.1 MECP2 FOXG1 CDKL5
26 megalencephalic leukoencephalopathy with subcortical cysts 2a 10.1 PLP1 MECP2
27 gait apraxia 10.1 SIN3A MECP2 FOXG1 CDKL5
28 christianson syndrome 10.1 UBE3A MECP2 FOXG1 CDKL5
29 mowat-wilson syndrome 10.0 UBE3A MECP2 FOXG1 CDKL5
30 pitt-hopkins syndrome 10.0 UBE3A MECP2 FOXG1 CDKL5
31 congenital nervous system abnormality 10.0 UBE3A MECP2 FOXG1 CDKL5
32 gastroesophageal reflux 10.0
33 strabismus 10.0
34 ataxia and polyneuropathy, adult-onset 10.0
35 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
36 pulmonary hypertension 10.0
37 syndromic intellectual disability 10.0
38 immunoglobulin alpha deficiency 10.0
39 scoliosis 10.0
40 craniosynostosis 10.0
41 dystonia 10.0
42 hepatoblastoma 10.0
43 learning disability 10.0
44 mechanical strabismus 10.0
45 47,xyy 10.0
46 plagiocephaly 10.0
47 precocious puberty 10.0
48 specific antibody deficiency 10.0
49 farsightedness 10.0
50 encephalopathy 10.0

Graphical network of the top 20 diseases related to Lubs X-Linked Mental Retardation Syndrome:



Diseases related to Lubs X-Linked Mental Retardation Syndrome

Symptoms & Phenotypes for Lubs X-Linked Mental Retardation Syndrome

Human phenotypes related to Lubs X-Linked Mental Retardation Syndrome:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
5 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
6 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
7 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
8 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
9 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047
10 blepharophimosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000581
11 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
12 tented upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0010804
13 abnormality of chromosome segregation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002916
14 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
15 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
16 hernia of the abdominal wall 58 31 frequent (33%) Frequent (79-30%) HP:0004299
17 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
18 intellectual disability 31 HP:0001249
19 global developmental delay 58 Very frequent (99-80%)
20 depressed nasal bridge 31 HP:0005280
21 macrotia 31 HP:0000400
22 macrocephaly 31 HP:0000256
23 recurrent respiratory infections 31 HP:0002205
24 abnormality of the dentition 31 HP:0000164
25 microcephaly 31 HP:0000252
26 gastroesophageal reflux 31 HP:0002020
27 brachycephaly 31 HP:0000248
28 abnormality of metabolism/homeostasis 31 HP:0001939
29 dysphagia 31 HP:0002015
30 ataxia 31 HP:0001251
31 absent speech 31 HP:0001344
32 narrow mouth 31 HP:0000160
33 low-set ears 31 HP:0000369
34 anxiety 31 HP:0000739
35 depressivity 31 HP:0000716
36 constipation 31 HP:0002019
37 malar flattening 31 HP:0000272
38 chorea 31 HP:0002072
39 midface retrusion 31 HP:0011800
40 progressive spasticity 31 HP:0002191
41 poor eye contact 31 HP:0000817
42 rigidity 31 HP:0002063
43 drooling 31 HP:0002307
44 bruxism 31 HP:0003763
45 infantile muscular hypotonia 31 HP:0008947
46 facial hypotonia 31 HP:0000297
47 psychomotor retardation 31 HP:0025356
48 hostility 31 HP:0031473
49 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly
microcephaly
brachycephaly

Neurologic Central Nervous System:
seizures
ataxia
sleep disturbances
lack of language development
choreiform movements
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Neurologic Behavioral Psychiatric Manifestations:
anxiety
rigidity
bruxism
hostility
autistic features
more
Head And Neck Mouth:
excessive salivation
drooling
small mouth
tented upper lip

Head And Neck Face:
facial hypotonia
flat midface
limited facial expression

Skeletal Skull:
asymmetric skull

Laboratory Abnormalities:
female carriers show markedly skewed x inactivation

Respiratory:
recurrent respiratory infections
abnormal breathing patterns

Abdomen Gastrointestinal:
gastroesophageal reflux
dysphagia
constipation

Head And Neck Ears:
low-set ears
large ears

Head And Neck Eyes:
poor eye contact

Head And Neck Teeth:
bruxism

Head And Neck Nose:
flat nasal bridge

Growth Other:
no growth retardation

Clinical features from OMIM:

300260

UMLS symptoms related to Lubs X-Linked Mental Retardation Syndrome:


seizures, ataxia, constipation, sleep disturbances, muscle rigidity

MGI Mouse Phenotypes related to Lubs X-Linked Mental Retardation Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 BDNF CDKL5 DLG4 FMR1 FOXG1 GDI1
2 integument MP:0010771 9.76 BDNF DLG4 FMR1 FOXG1 GRM7 MECP2
3 nervous system MP:0003631 9.73 BDNF CDKL5 DLG4 FMR1 FOXG1 GDI1
4 taste/olfaction MP:0005394 9.02 BDNF CDKL5 FOXG1 GDI1 NLGN3

Drugs & Therapeutics for Lubs X-Linked Mental Retardation Syndrome

Search Clinical Trials , NIH Clinical Center for Lubs X-Linked Mental Retardation Syndrome

Cochrane evidence based reviews: lubs x-linked mental retardation syndrome

Genetic Tests for Lubs X-Linked Mental Retardation Syndrome

Genetic tests related to Lubs X-Linked Mental Retardation Syndrome:

# Genetic test Affiliating Genes
1 Syndromic X-Linked Intellectual Disability Lubs Type 29 MECP2

Anatomical Context for Lubs X-Linked Mental Retardation Syndrome

MalaCards organs/tissues related to Lubs X-Linked Mental Retardation Syndrome:

40
Eye, Brain, Cortex, Cerebellum, Prefrontal Cortex, Thalamus, Hypothalamus

Publications for Lubs X-Linked Mental Retardation Syndrome

Articles related to Lubs X-Linked Mental Retardation Syndrome:

(show top 50) (show all 125)
# Title Authors PMID Year
1
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. 6 56 24
17172942 2006
2
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. 24 6 56
16080119 2005
3
Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. 24 56 6
15689435 2005
4
MECP2 duplication in a patient with congenital central hypoventilation. 6 56
20503343 2010
5
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. 24 56 61
20035514 2009
6
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. 24 56
18985075 2009
7
Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. 24 56
17088400 2006
8
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. 56 24
15351775 2004
9
Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2. 61 56
26808898 2016
10
Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides. 56 61
26605526 2015
11
Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. 56 61
22231481 2012
12
The MECP2 duplication syndrome. 61 56
20425814 2010
13
MECP2 Duplication Syndrome 6 61
20301461 2008
14
Molecular characterization of Spanish patients with MECP2 duplication syndrome. 24 61
32043567 2020
15
The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children. 24 61
30756435 2019
16
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. 6
30773277 2019
17
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia. 6
30773278 2019
18
Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome. 24 61
30552298 2019
19
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. 61 24
29618507 2018
20
Expanding the clinical picture of the MECP2 Duplication syndrome. 24 61
27247049 2017
21
Altered neuronal network and rescue in a human MECP2 duplication model. 24 61
26347316 2016
22
MECP2 duplication: possible cause of severe phenotype in females. 61 24
24458799 2014
23
MECP2 duplication syndrome in both genders. 61 24
22877836 2013
24
MECP2 triplication in 3 brothers - a rarely described cause of familial neurological regression in boys. 24 61
21821449 2012
25
Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation. 61 24
22129561 2012
26
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. 56
19324899 2009
27
The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA. 61 24
19018795 2009
28
Sponastrime dysplasia: presentation in infancy. 6
11768397 2001
29
SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature. 6
10797420 2000
30
XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28. 56
10398236 1999
31
A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia. 6
10319195 1999
32
Genomic insights into MeCP2 function: A role for the maintenance of chromatin architecture. 24
31430649 2019
33
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling? 24
27761913 2017
34
MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum. 24
28503606 2016
35
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients. 24
26420639 2016
36
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation. 24
25037250 2014
37
MECP2 duplication phenotype in symptomatic females: report of three further cases. 24
24472397 2014
38
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications. 24
22805531 2013
39
Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome. 24
22581587 2012
40
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation. 24
22522176 2012
41
MECP2 duplications in six patients with complex sex chromosome rearrangements. 24
21119712 2011
42
Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state. 24
20188665 2010
43
Neurologic aspects of MECP2 gene duplication in male patients. 24
19664534 2009
44
Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection. 24
19057379 2009
45
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. 24
18854860 2009
46
De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation. 24
19090026 2009
47
Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. 24
18923513 2008
48
Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections. 24
18165974 2008
49
MeCP2, a key contributor to neurological disease, activates and represses transcription. 24
18511691 2008
50
Functional disomy of the Xq28 chromosome region. 24
15741994 2005

Variations for Lubs X-Linked Mental Retardation Syndrome

ClinVar genetic disease variations for Lubs X-Linked Mental Retardation Syndrome:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 14 genes: FLNA , MECP2 GRCh37/hg19 Xq28(chrX:153174571-153609996)copy number gain Pathogenic 625653 X:153174571-153609996
2 subset of 740 genes: ABCD1 , ACSL4 , AFF2 , AP1S2 , AR , ARHGEF9 , ARX , ATP7A , ATRX , AVPR2 , BCOR , BRWD3 , BTK , CASK , CCNQ , CD40LG , CDKL5 , CHM , CHRDL1 , CLCN5 , CNKSR2 , COL4A5 , CUL4B , CYBB , DCX , DDX3X , DLG3 , DMD , EBP , EDA , EFNB1 , F9 , FGD1 , FMR1 , FRMD7 , FTSJ1 , GK , GLA , GPC3 , GRIA3 , HDAC8 , HPRT1 , IDS , IL1RAPL1 , IQSEC2 , KDM5C , KDM6A , L1CAM , LAMP2 , MAGT1 , MAOA , MECP2 , MTM1 , NDP , NEXMIF , NHS , NR0B1 , NSDHL , NXF5 , NYX , OCRL , OPHN1 , OTC , PAK3 , PCDH19 , PDHA1 , PGK1 , PHEX , PHF6 , PHF8 , PIGA , PLP1 , PORCN , PQBP1 , PRPS1 , PTCHD1 , RP2 , RPS6KA3 , RS1 , SH2D1A , SLC16A2 , SLC35A2 , SLC6A8 , SLC9A6 , SMC1A , SMS , SOX3 , SYN1 , SYP , TBX22 , TIMM8A , TSPAN7 , UBE2A , UPF3B , USP9X , WDR45 , XIAP , XIST , ZC4H2 , ZDHHC9 , ZIC3 , ZNF41 , ZNF674 , ZNF711 duplication Pathogenic 626291 X:15323210-153542100
3 MECP2 NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)SNV Pathogenic 11815 rs61750240 X:153296471-153296471 X:154031020-154031020
4 MECP2 MECP2, DUPduplication Pathogenic 11838
5 MECP2 NM_001110792.2(MECP2):c.842del (p.Gly281fs)deletion Pathogenic 95202 rs61750241 X:153296473-153296473 X:154031022-154031022
6 MECP2 NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)deletion Pathogenic 143406 rs61752992 X:153296072-153296115 X:154030621-154030664
7 MECP2 NM_001110792.2(MECP2):c.1137_1237del (p.His379fs)deletion Pathogenic 189648 rs1557135315 X:153296078-153296178 X:154030627-154030727
8 MECP2 duplication Pathogenic 242861
9 MECP2 duplication Pathogenic 242862
10 MECP2 NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)SNV Pathogenic/Likely pathogenic 11819 rs61751362 X:153296399-153296399 X:154030948-154030948
11 MECP2 NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)SNV Pathogenic/Likely pathogenic 11829 rs61749721 X:153296516-153296516 X:154031065-154031065
12 MECP2 NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)SNV Pathogenic/Likely pathogenic 11811 rs28934906 X:153296806-153296806 X:154031355-154031355
13 MECP2 NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)SNV Conflicting interpretations of pathogenicity 11844 rs179363900 X:153296825-153296825 X:154031374-154031374
14 MECP2 NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)SNV Conflicting interpretations of pathogenicity 156634 rs140258520 X:153296024-153296024 X:154030573-154030573
15 MECP2 NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)SNV Uncertain significance 156636 rs145790362 X:153295846-153295846 X:154030395-154030395
16 MECP2 NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser)SNV Uncertain significance 188500 rs786204313 X:153296266-153296266 X:154030815-154030815
17 MECP2 NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala)SNV Uncertain significance 143608 rs61748427 X:153296762-153296762 X:154031311-154031311
18 MECP2 NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp)SNV Uncertain significance 143700 rs61750239 X:153296477-153296477 X:154031026-154031026
19 MECP2 NM_001110792.2(MECP2):c.991G>A (p.Val331Met)SNV Uncertain significance 625979 rs1569548388 X:153296324-153296324 X:154030873-154030873

Expression for Lubs X-Linked Mental Retardation Syndrome

Search GEO for disease gene expression data for Lubs X-Linked Mental Retardation Syndrome.

Pathways for Lubs X-Linked Mental Retardation Syndrome

Pathways related to Lubs X-Linked Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.96 SIN3A NCOR1 MECP2 HCFC1
2 11.46 UBE3A SIN3A NCOR1
3 11.22 SIN3A NCOR1 FOXG1
4
Show member pathways
10.85 SIN3A NCOR1 MECP2
5 10.81 UBE3A SIN3A NCOR1 MECP2 BDNF

GO Terms for Lubs X-Linked Mental Retardation Syndrome

Cellular components related to Lubs X-Linked Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.65 HCFC1 GRM7 FMR1 DLG4 BDNF
2 synapse GO:0045202 9.63 PLP1 NLGN3 MECP2 FMR1 DLG4 CDKL5
3 axon GO:0030424 9.43 HCFC1 GRM7 GDI1 FMR1 DLG4 BDNF
4 Sin3 complex GO:0016580 9.32 SIN3A NCOR1
5 postsynapse GO:0098794 9.02 NLGN3 MECP2 FMR1 DLG4 BDNF

Biological processes related to Lubs X-Linked Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of neuron differentiation GO:0045666 9.63 SIN3A FOXG1 BDNF
2 learning GO:0007612 9.54 NLGN3 MECP2 DLG4
3 synapse assembly GO:0007416 9.5 NLGN3 MECP2 BDNF
4 vocalization behavior GO:0071625 9.48 NLGN3 DLG4
5 regulation of respiratory gaseous exchange by neurological system process GO:0002087 9.43 NLGN3 MECP2
6 inhibitory postsynaptic potential GO:0060080 9.4 NLGN3 BDNF
7 social behavior GO:0035176 9.33 NLGN3 MECP2 DLG4
8 negative regulation of dendritic spine morphogenesis GO:0061002 9.26 UBE3A NLGN3
9 behavioral fear response GO:0001662 9.13 MECP2 GRM7 BDNF
10 chemical synaptic transmission GO:0007268 9.02 PLP1 NLGN3 MECP2 GRM7 DLG4

Molecular functions related to Lubs X-Linked Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.02 SIN3A NCOR1 MECP2 HCFC1 FMR1
2 siRNA binding GO:0035197 8.96 MECP2 FMR1

Sources for Lubs X-Linked Mental Retardation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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45 MGI
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61 PubMed
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