MRXSL
MCID: LBS001
MIFTS: 43

Lubs X-Linked Mental Retardation Syndrome (MRXSL)

Categories: 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 57 12 25 75 44 73
Mecp2 Duplication Syndrome 57 12 24 53 25 75 29 6
Mrxsl 57 12 53 75
Mental Retardation, X-Linked, Syndromic, Lubs Type 57 12 75
Mental Retardation, X-Linked Syndromic, Lubs Type 57 13 40
Mental Retardation, X-Linked, with Recurrent Respiratory Infections 57 12
Syndromic X-Linked Intellectual Disability Lubs Type 12 15
Trisomy Xq28 25 73
X-Linked Intellectual Disability-Hypotonia-Recurrent Infections Syndrome 12
Mental Retardation X-Linked with Recurrent Respiratory Infections 75
Mental Retardation X-Linked Lubs Type 75
Xlmr Syndrome, Lubs Type 53

Characteristics:

OMIM:

57
Miscellaneous:
progressive disorder
allelic to rett syndrome
female carriers are unaffected or show neuropsychiatric features

Inheritance:
x-linked recessive


HPO:

32
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:



Summaries for Lubs X-Linked Mental Retardation Syndrome

NIH Rare Diseases : 53 MECP2 duplicationsyndrome 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 chromosome xq28 duplication 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 is Tuberculosis. Affiliated tissues include eye and brain, and related phenotypes are macrocephaly and malar flattening

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.

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)

UniProtKB/Swiss-Prot : 75 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 all 15)
# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, syndromic 13 32.1 GDI1 MECP2
2 chromosome xq28 duplication syndrome 11.2
3 autism 10.3
4 anxiety 10.1
5 epilepsy 10.1
6 rett syndrome 10.0
7 dystonia 10.0
8 hepatoblastoma 10.0
9 learning disability 10.0
10 precocious puberty 10.0
11 spasticity 10.0
12 leber congenital amaurosis 10 10.0 IRAK1 MECP2
13 ficolin 3 deficiency 9.9 ATP6AP1 GDI1
14 x-linked non-specific intellectual disability 9.9 GDI1 MECP2
15 west syndrome 9.8 FLNA MECP2

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
microcephaly
brachycephaly

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

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

Head And Neck Teeth:
bruxism

Skeletal Skull:
asymmetric skull

Laboratory Abnormalities:
female carriers show markedly skewed x inactivation

Head And Neck Ears:
low-set ears
large ears

Abdomen Gastrointestinal:
dysphagia
constipation
gastroesophageal reflux

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Head And Neck Eyes:
poor eye contact

Head And Neck Nose:
flat nasal bridge

Growth Other:
no growth retardation


Clinical features from OMIM:

300260

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

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

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 9.35 ATP6AP1 FLNA GDI1 GRM7 MECP2
2 normal MP:0002873 8.92 FLNA GRM7 IRAK1 MECP2

Drugs & Therapeutics for Lubs X-Linked Mental Retardation Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Diseases Clinical Research Network: Neurophysiological Correlates Recruiting NCT03077308
2 Biobanking of Rett Syndrome and Related Disorders Recruiting NCT02705677
3 Natural History of Rett Syndrome & Related Disorders Recruiting NCT02738281

Search 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 Mecp2 Duplication Syndrome 29 MECP2

Anatomical Context for Lubs X-Linked Mental Retardation Syndrome

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

41
Eye, Brain

Publications for Lubs X-Linked Mental Retardation Syndrome

Articles related to Lubs X-Linked Mental Retardation Syndrome:

(show all 38)
# Title Authors Year
1
Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome. ( 30552298 )
2018
2
Successful corpus callosotomy for post-encephalopathic refractory epilepsy in a patient with MECP2 duplication syndrome. ( 30314874 )
2018
3
Antibiotic Prophylaxis, Immunoglobulin Substitution and Supportive Measures Prevent Infections in MECP2 Duplication Syndrome. ( 28938254 )
2018
4
Genetic Reduction or Negative Modulation of mGlu7 Does Not Impact Anxiety and Fear Learning Phenotypes in a Mouse Model of MECP2 Duplication Syndrome. ( 29227625 )
2018
5
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. ( 29618507 )
2018
6
Increased Axonal Bouton Stability during Learning in the Mouse Model of MECP2 Duplication Syndrome. ( 30105297 )
2018
7
Expanding the clinical picture of the MECP2 Duplication syndrome. ( 27247049 )
2017
8
Altered visual cortical processing in a mouse model of MECP2 duplication syndrome. ( 28743991 )
2017
9
Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family. ( 29141583 )
2017
10
Accumulated quiescent neural stem cells in adult hippocampus of the mouse model for the MECP2 duplication syndrome. ( 28139724 )
2017
11
Distinguishing response to names in Rett and MECP2 Duplication syndrome: An ERP study of auditory social information processing. ( 28870827 )
2017
12
Monkey model of MECP2 duplication syndrome aids autism research: Monkeys genetically altered with extra copies of MECP2 are being used as a model for research into autism and MECP2 duplication syndrome. ( 27075501 )
2016
13
A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty. ( 27649574 )
2016
14
Hepatoblastoma in a male with MECP2 duplication syndrome. ( 26602209 )
2016
15
MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome. ( 26930212 )
2016
16
Diurnal Salivary Cortisol and Regression Status in MECP2 Duplication Syndrome. ( 25999300 )
2016
17
MECP2 DUPLICATION SYNDROME WITH ADDITIONAL FINDINGS. ( 30226965 )
2016
18
Infectious and immunologic phenotype of MECP2 duplication syndrome. ( 25721700 )
2015
19
MECP2 duplication syndrome in a Chinese family. ( 26672597 )
2015
20
Deep brain stimulation for the management of seizures in MECP2 duplication syndrome. ( 24675111 )
2014
21
Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. ( 24970834 )
2014
22
Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome. ( 24336718 )
2013
23
Overexpression of methyl-CpG-binding protein 2 and autoimmunity: evidence from MECP2 duplication syndrome, lupus, MECP2 transgenic and Mecp2 deficient mice. ( 23861028 )
2013
24
Brief report: regression timing and associated features in MECP2 duplication syndrome. ( 23456562 )
2013
25
MECP2 duplication syndrome in both genders. ( 22877836 )
2013
26
The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism. ( 23169761 )
2013
27
Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature. ( 22578097 )
2012
28
A mouse model for MeCP2 duplication syndrome: MeCP2 overexpression impairs learning and memory and synaptic transmission. ( 22378884 )
2012
29
MECP2 Duplication Syndrome. ( 22679399 )
2012
30
Eating-induced epileptic spasms in a boy with MECP2 duplication syndrome: insights into pathogenesis of genetic epilepsies. ( 23248047 )
2012
31
Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. ( 22231481 )
2012
32
Novel clinical finding in MECP2 duplication syndrome. ( 21590509 )
2011
33
The MECP2 duplication syndrome. ( 20425814 )
2010
34
Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications. ( 20082459 )
2010
35
Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome? ( 19592282 )
2010
36
The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA. ( 19018795 )
2009
37
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. ( 20035514 )
2009
38
MECP2 Duplication Syndrome ( 20301461 )
1993

Variations for Lubs X-Linked Mental Retardation Syndrome

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MECP2 NM_004992.3(MECP2): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs61750240 GRCh37 Chromosome X, 153296471: 153296471
2 MECP2 NM_004992.3(MECP2): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs61750240 GRCh38 Chromosome X, 154031020: 154031020
3 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh37 Chromosome X, 153296399: 153296399
4 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh38 Chromosome X, 154030948: 154030948
5 MECP2 NM_004992.3(MECP2): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61749721 GRCh37 Chromosome X, 153296516: 153296516
6 MECP2 NM_004992.3(MECP2): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61749721 GRCh38 Chromosome X, 154031065: 154031065
7 MECP2 MECP2, DUP duplication Pathogenic
8 MECP2 NC_000023.9: g.(?_152730000)_(153020000_?)dup duplication Pathogenic NCBI36 Chromosome X, 152730000: 153020000
9 MECP2 NC_000023.9: g.(?_139330000)_(154580000_?)dup duplication Pathogenic NCBI36 Chromosome X, 139330000: 154580000

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 10.88 ATP6AP1 IRAK1

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 cell cortex GO:0005938 9.16 FLNA GRM7
2 postsynapse GO:0098794 8.96 FLNA MECP2
3 dendritic shaft GO:0043198 8.62 FLNA GRM7

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 I-kappaB kinase/NF-kappaB signaling GO:0043123 8.96 FLNA IRAK1
2 behavioral fear response GO:0001662 8.62 GRM7 MECP2

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

# Name GO ID Score Top Affiliating Genes
1 Rab GTPase binding GO:0017137 8.62 ATP6AP1 GDI1

Sources for Lubs X-Linked Mental Retardation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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