MRXSL
MCID: LBS001
MIFTS: 50

Lubs X-Linked Mental Retardation Syndrome (MRXSL)

Categories: Fetal 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 57 12 43 73 44 71
Mecp2 Duplication Syndrome 57 12 25 20 43 73 15
Syndromic X-Linked Intellectual Disability Lubs Type 12 29 6 15
Trisomy Xq28 20 43 58 71
Mrxsl 57 12 20 73
Mental Retardation, X-Linked, Syndromic, Lubs Type 57 12 73
Mental Retardation, X-Linked Syndromic, Lubs Type 57 13 39
Mental Retardation, X-Linked, with Recurrent Respiratory Infections 57 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 20
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®:

57 (Updated 05-Mar-2021)
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:

25
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

GARD : 20 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 mental retardation, x-linked, syndromic 13 and rett syndrome, 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 neurological speech impairment and ptosis

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.

MedlinePlus Genetics : 43 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.

OMIM® : 57 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) (Updated 05-Mar-2021)

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 67)
# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, syndromic 13 32.2 MECP2 GDI1
2 rett syndrome 32.0 VAMP7 SIN3A MECP2 L1CAM IRAK1 GDI1
3 mecp2 disorders 31.0 MECP2 FOXG1
4 alacrima, achalasia, and mental retardation syndrome 30.9 SLC6A8 NAA10 MECP2 GDI1 FOXG1 FMR1
5 autism 30.6 SLC6A8 RAB39B MECP2 FOXG1 FMR1 FLNA
6 mecp2-related severe neonatal encephalopathy 11.2
7 chromosome xq28 duplication syndrome 11.1
8 hypotonia 10.6
9 spasticity 10.5
10 spondyloepimetaphyseal dysplasia, sponastrime type 10.4 TONSL-AS1 TONSL
11 infantile hypotonia 10.4
12 microphthalmia, syndromic 13 10.4 NAA10 AR
13 childhood disintegrative disease 10.4 MECP2 FMR1
14 chromosome 14q11-q22 deletion syndrome 10.4 FOXG1 FMR1
15 cerebral creatine deficiency syndrome 1 10.4 SLC6A8 BCAP31
16 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.4
17 seizure disorder 10.4
18 cerebral creatine deficiency syndrome 10.4 SLC6A8 BCAP31
19 developmental and epileptic encephalopathy 8 10.4 RAB39B MECP2 IRAK1 GDI1
20 gait apraxia 10.3 SIN3A MECP2 FOXG1
21 congenital nervous system abnormality 10.3 MECP2 FOXG1 FLNA
22 encephalopathy, neonatal severe, due to mecp2 mutations 10.3 NAA10 MECP2 L1CAM FLNA
23 physical disorder 10.3 MECP2 FOXG1 FLNA
24 atypical autism 10.3 MECP2 FMR1
25 constipation 10.3
26 echolalia 10.3 MECP2 FMR1
27 x-linked monogenic disease 10.3 MECP2 FMR1 AR ALAS2
28 specific developmental disorder 10.3 SLC6A8 MECP2 FMR1
29 hypertonia 10.3
30 epilepsy 10.3
31 christianson syndrome 10.3 MECP2 FOXG1
32 pervasive developmental disorder 10.3 MECP2 FOXG1 FMR1
33 otopalatodigital syndrome, type i 10.3 MECP2 FLNA
34 non-syndromic x-linked intellectual disability 10.2 SLC6A8 RAB39B MECP2 GDI1 FMR1 ALAS2
35 autism spectrum disorder 10.2
36 partington x-linked mental retardation syndrome 10.2 SLC6A8 MECP2
37 ataxia and polyneuropathy, adult-onset 10.1
38 anxiety 10.1
39 human immunodeficiency virus type 1 10.1
40 pulmonary hypertension 10.1
41 bruxism 10.1
42 encephalopathy 10.1
43 gene duplication disease 10.1 TEX28 SIN3A RAB39B MECP2 IRAK1 GDI1
44 angelman syndrome 10.0
45 gastroesophageal reflux 10.0
46 hypertelorism 10.0
47 strabismus 10.0
48 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
49 lennox-gastaut syndrome 10.0
50 sleep apnea 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 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
2 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
3 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
6 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
7 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
8 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
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 macrocephaly 31 HP:0000256
19 intellectual disability 31 HP:0001249
20 depressivity 31 HP:0000716
21 ataxia 31 HP:0001251
22 dysphagia 31 HP:0002015
23 constipation 31 HP:0002019
24 chorea 31 HP:0002072
25 global developmental delay 58 Very frequent (99-80%)
26 depressed nasal bridge 31 HP:0005280
27 macrotia 31 HP:0000400
28 recurrent respiratory infections 31 HP:0002205
29 abnormality of the dentition 31 HP:0000164
30 microcephaly 31 HP:0000252
31 gastroesophageal reflux 31 HP:0002020
32 brachycephaly 31 HP:0000248
33 absent speech 31 HP:0001344
34 low-set ears 31 HP:0000369
35 anxiety 31 HP:0000739
36 narrow mouth 31 HP:0000160
37 malar flattening 31 HP:0000272
38 midface retrusion 31 HP:0011800
39 progressive spasticity 31 HP:0002191
40 abnormality of metabolism/homeostasis 31 HP:0001939
41 poor eye contact 31 HP:0000817
42 rigidity 31 HP:0002063
43 psychomotor retardation 31 HP:0025356
44 drooling 31 HP:0002307
45 bruxism 31 HP:0003763
46 infantile muscular hypotonia 31 HP:0008947
47 facial hypotonia 31 HP:0000297
48 hostility 31 HP:0031473
49 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Head:
macrocephaly
microcephaly
brachycephaly

Abdomen Gastrointestinal:
dysphagia
constipation
gastroesophageal reflux

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

Neurologic Central Nervous System:
seizures
ataxia
sleep disturbances
lack of language development
choreiform movements
more
Respiratory:
recurrent respiratory infections
abnormal breathing patterns

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 (Updated 05-Mar-2021)

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 AR FLNA FMR1 FOXG1 GDI1 L1CAM
2 pigmentation MP:0001186 9.02 AR FOXG1 L1CAM NAA10 SLC6A8

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 134)
# Title Authors PMID Year
1
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. 25 6 57
17172942 2006
2
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. 6 25 57
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. 57 6 25
15689435 2005
4
MECP2 duplication in a patient with congenital central hypoventilation. 57 6
20503343 2010
5
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. 57 25 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. 25 57
18985075 2009
7
Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. 25 57
17088400 2006
8
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. 25 57
15351775 2004
9
Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2. 61 57
26808898 2016
10
Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides. 57 61
26605526 2015
11
Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. 57 61
22231481 2012
12
The MECP2 duplication syndrome. 57 61
20425814 2010
13
Molecular characterization of Spanish patients with MECP2 duplication syndrome. 61 25
32043567 2020
14
The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children. 61 25
30756435 2019
15
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. 6
30773277 2019
16
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia. 6
30773278 2019
17
Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome. 25 61
30552298 2019
18
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. 25 61
29618507 2018
19
Expanding the clinical picture of the MECP2 Duplication syndrome. 61 25
27247049 2017
20
Altered neuronal network and rescue in a human MECP2 duplication model. 61 25
26347316 2016
21
MECP2 duplication: possible cause of severe phenotype in females. 61 25
24458799 2014
22
MECP2 duplication syndrome in both genders. 61 25
22877836 2013
23
MECP2 triplication in 3 brothers - a rarely described cause of familial neurological regression in boys. 61 25
21821449 2012
24
Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation. 61 25
22129561 2012
25
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. 57
19324899 2009
26
The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA. 25 61
19018795 2009
27
Sponastrime dysplasia: presentation in infancy. 6
11768397 2001
28
SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature. 6
10797420 2000
29
XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28. 57
10398236 1999
30
A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia. 6
10319195 1999
31
Genomic insights into MeCP2 function: A role for the maintenance of chromatin architecture. 25
31430649 2019
32
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling? 25
27761913 2017
33
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients. 25
26420639 2016
34
MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum. 25
28503606 2016
35
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation. 25
25037250 2014
36
MECP2 duplication phenotype in symptomatic females: report of three further cases. 25
24472397 2014
37
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications. 25
22805531 2013
38
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation. 25
22522176 2012
39
Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome. 25
22581587 2012
40
MECP2 duplications in six patients with complex sex chromosome rearrangements. 25
21119712 2011
41
Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state. 25
20188665 2010
42
Neurologic aspects of MECP2 gene duplication in male patients. 25
19664534 2009
43
Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection. 25
19057379 2009
44
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. 25
18854860 2009
45
De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation. 25
19090026 2009
46
Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. 25
18923513 2008
47
Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections. 25
18165974 2008
48
MeCP2, a key contributor to neurological disease, activates and represses transcription. 25
18511691 2008
49
Functional disomy of the Xq28 chromosome region. 25
15741994 2005
50
Functional disomy resulting from duplications of distal Xq in four unrelated patients. 25
15338277 2004

Variations for Lubs X-Linked Mental Retardation Syndrome

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

6 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TONSL TONSL, EX23 DEL Deletion Pathogenic 638068
2 TONSL-AS1 NM_013432.5(TONSL):c.1673G>A (p.Arg558Gln) SNV Pathogenic 638069 rs777654833 8:145662463-145662463 8:144437080-144437080
3 TONSL NM_013432.5(TONSL):c.866-1G>C SNV Pathogenic 638066 rs1424148372 8:145666495-145666495 8:144441112-144441112
4 TONSL NM_013432.5(TONSL):c.595G>A (p.Glu199Lys) SNV Pathogenic 638067 rs1335783881 8:145667779-145667779 8:144442396-144442396
5 MECP2 MECP2, DUP Duplication Pathogenic 11838
6 MECP2 Duplication Pathogenic 242861
7 MECP2 Duplication Pathogenic 242862
8 MECP2 NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) SNV Pathogenic 11815 rs61750240 X:153296471-153296471 X:154031020-154031020
9 MECP2 NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) SNV Pathogenic 11819 rs61751362 X:153296399-153296399 X:154030948-154030948
10 MECP2 NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) Deletion Pathogenic 189648 rs1557135315 X:153296078-153296178 X:154030627-154030727
11 MECP2 NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) SNV Pathogenic 11844 rs179363900 X:153296825-153296825 X:154031374-154031374
12 NAA10 GRCh37/hg19 Xq28(chrX:153174571-153609996) copy number gain Pathogenic 625653 X:153174571-153609996
13 MECP2 NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) Deletion Pathogenic 143406 rs61752992 X:153296072-153296115 X:154030621-154030664
14 ALAS2 Duplication Pathogenic 626291 X:15323210-153542100
15 TONSL-AS1 NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp) SNV Pathogenic 638059 rs755575416 8:145660909-145660909 8:144435526-144435526
16 TONSL NM_013432.5(TONSL):c.1480G>A (p.Glu494Lys) SNV Pathogenic 638065 rs775551492 8:145665404-145665404 8:144440021-144440021
17 MECP2 NM_001110792.2(MECP2):c.842del (p.Gly281fs) Deletion Pathogenic 95202 rs61750241 X:153296473-153296473 X:154031022-154031022
18 MECP2 NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) SNV Pathogenic 11823 rs28934908 X:153296860-153296860 X:154031409-154031409
19 MECP2 NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) SNV Pathogenic 11829 rs61749721 X:153296516-153296516 X:154031065-154031065
20 MECP2 NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) SNV Pathogenic 11811 rs28934906 X:153296806-153296806 X:154031355-154031355
21 TONSL-AS1 NM_013432.5(TONSL):c.2407C>T (p.Gln803Ter) SNV Pathogenic/Likely pathogenic 638060 rs769100855 8:145661409-145661409 8:144436026-144436026
22 TONSL NM_013432.5(TONSL):c.3589T>C (p.Ser1197Pro) SNV Pathogenic/Likely pathogenic 638061 rs1586681982 8:145657814-145657814 8:144432431-144432431
23 TONSL NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) SNV Pathogenic/Likely pathogenic 638062 rs563710728 8:145665425-145665425 8:144440042-144440042
24 TONSL-AS1 NM_013432.5(TONSL):c.1602_1612del (p.Ala536fs) Deletion Pathogenic/Likely pathogenic 638063 rs1586692058 8:145663895-145663905 8:144438512-144438522
25 TONSL-AS1 NM_013432.5(TONSL):c.2638_2647delinsGG (p.Arg880fs) Indel Pathogenic/Likely pathogenic 638064 rs1586687279 8:145661169-145661178 8:144435786-144435795
26 TONSL NM_013432.5(TONSL):c.3096dup (p.Gln1033fs) Duplication Likely pathogenic 982172 8:145659651-145659652 8:144434268-144434269
27 TONSL NM_013432.5(TONSL):c.460C>T (p.Gln154Ter) SNV Likely pathogenic 982173 8:145668178-145668178 8:144442795-144442795
28 TONSL-AS1 NM_013432.5(TONSL):c.1864dup (p.Ala622fs) Duplication Likely pathogenic 982174 8:145662165-145662166 8:144436782-144436783
29 TONSL NM_013432.5(TONSL):c.122-5C>G SNV Likely pathogenic 982175 8:145669412-145669412 8:144444029-144444029
30 TONSL NM_013432.5(TONSL):c.3796dup (p.Arg1266fs) Duplication Likely pathogenic 982176 8:145656473-145656474 8:144431090-144431091
31 MECP2 NM_001110792.2(MECP2):c.1440dup (p.Pro481fs) Duplication Likely pathogenic 974845 X:153295874-153295875 X:154030423-154030424
32 MECP2 NM_001110792.2(MECP2):c.991G>A (p.Val331Met) SNV Uncertain significance 625979 rs1569548388 X:153296324-153296324 X:154030873-154030873
33 MECP2 NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) SNV Uncertain significance 143700 rs61750239 X:153296477-153296477 X:154031026-154031026
34 MECP2 NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) SNV Uncertain significance 156636 rs145790362 X:153295846-153295846 X:154030395-154030395
35 MECP2 NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) SNV Uncertain significance 156634 rs140258520 X:153296024-153296024 X:154030573-154030573
36 MECP2 NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) SNV Uncertain significance 188500 rs786204313 X:153296266-153296266 X:154030815-154030815
37 MECP2 NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) SNV Uncertain significance 143608 rs61748427 X:153296762-153296762 X:154031311-154031311

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 11.66 SIN3A NAA10 MECP2 AR
2 11.29 SIN3A FLNA AR
3 10.69 SIN3A FOXG1 AR

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 postsynapse GO:0098794 8.8 MECP2 FMR1 FLNA

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

# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.46 VAMP7 RAB39B GDI1 BCAP31
2 Rab protein signal transduction GO:0032482 8.96 RAB39B GDI1
3 synapse organization GO:0050808 8.8 RAB39B L1CAM FLNA

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.26 SIN3A MECP2 FLNA AR
2 siRNA binding GO:0035197 8.62 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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