MRXSL
MCID: MNT208
MIFTS: 42

Mental Retardation, X-Linked Syndromic, Lubs Type (MRXSL) malady

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

Aliases & Classifications for Mental Retardation, X-Linked Syndromic, Lubs Type

Aliases & Descriptions for Mental Retardation, X-Linked Syndromic, Lubs Type:

Name: Mental Retardation, X-Linked Syndromic, Lubs Type 54 13
Mecp2 Duplication Syndrome 12 23 50 24 25 66 29
Lubs X-Linked Mental Retardation Syndrome 12 25 66 42 69
Mrxsl 12 50 66
Syndromic X-Linked Intellectual Disability Lubs Type 12 14
Mental Retardation, X-Linked, Syndromic, Lubs Type 12 66
Trisomy Xq28 25 69
X-Linked Intellectual Disability-Hypotonia-Recurrent Infections Syndrome 12
Mental Retardation, X-Linked, with Recurrent Respiratory Infections 12
Mental Retardation X-Linked with Recurrent Respiratory Infections 66
Mental Retardation X-Linked Lubs Type 66
Xlmr Syndrome, Lubs Type 50

Characteristics:

GeneReviews:

23
mental retardation, x-linked syndromic, lubs type:
Onset and clinical course progressive
Inheritance x-linked recessive inheritance


GeneReviews:

23
Penetrance Mecp2 duplications are believed to be completely penetrant in males...

Classifications:



External Ids:

OMIM 54 300260
Disease Ontology 12 DOID:0060799
ICD10 33 Q87.8
UMLS 69 C1846058

Summaries for Mental Retardation, X-Linked Syndromic, Lubs Type

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.

MalaCards based summary : Mental Retardation, X-Linked Syndromic, Lubs Type, also known as mecp2 duplication syndrome, is related to mental retardation, x-linked, syndromic 13 and distal xq28 microduplication syndrome, and has symptoms including ataxia, constipation and seizures. An important gene associated with Mental Retardation, X-Linked Syndromic, Lubs Type is MECP2 (Methyl-CpG Binding Protein 2). Affiliated tissues include eye, and related phenotypes are cellular and mortality/aging

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.

NIH Rare Diseases : 50 mecp2 duplication syndrome is a genetic condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. other signs and symptoms include infantile hypotonia; delayed motor milestones (i.e. sitting up, crawling); recurrent infections; poor or absent speech; seizures; and/or spasticity. mecp2 duplication syndrome occurs when there is an extra copy (duplication) of the mecp2 gene in each cell. this is generally caused by a duplication of genetic material located on the long (q) arm of the x chromosome. the condition is inherited in an x-linked manner. treatment is based on the signs and symptoms present in each person. last updated: 7/23/2015

OMIM : 54 MECP2 duplication syndrome is an X-linked neurodevelopmental disorder characterized by severe to profound mental... (300260) more...

UniProtKB/Swiss-Prot : 66 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 Mental Retardation, X-Linked Syndromic, Lubs Type

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



Diseases related to Mental Retardation, X-Linked Syndromic, Lubs Type

Symptoms & Phenotypes for Mental Retardation, X-Linked Syndromic, Lubs Type

Symptoms by clinical synopsis from OMIM:

300260

Clinical features from OMIM:

300260

Human phenotypes related to Mental Retardation, X-Linked Syndromic, Lubs Type:

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

UMLS symptoms related to Mental Retardation, X-Linked Syndromic, Lubs Type:


ataxia, constipation, muscle rigidity, seizures, sleep disturbances

MGI Mouse Phenotypes related to Mental Retardation, X-Linked Syndromic, Lubs Type:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 ATRX CRH FLNA IRAK1 LMNB1 MECP2
2 mortality/aging MP:0010768 9.97 ATP6AP1 ATRX FLNA IRAK1 LMNB1 MECP2
3 nervous system MP:0003631 9.73 YWHAE ATP6AP1 ATRX CRH FLNA GDI1
4 reproductive system MP:0005389 9.23 OPRM1 PAFAH1B1 PLP1 RPS6KB1 YWHAE ATRX

Drugs & Therapeutics for Mental Retardation, X-Linked Syndromic, Lubs Type

Interventional clinical trials:


id Name Status NCT ID Phase
1 Genetic and Physical Characteristics of Rett Syndrome Completed NCT00299312
2 Rare Diseases Clinical Research Network: Neurophysiological Correlates Recruiting NCT03077308
3 Natural History of Rett Syndrome & Related Disorders Recruiting NCT02738281
4 Biobanking of Rett Syndrome and Related Disorders Not yet recruiting NCT02705677

Search NIH Clinical Center for Mental Retardation, X-Linked Syndromic, Lubs Type

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

Genetic Tests for Mental Retardation, X-Linked Syndromic, Lubs Type

Genetic tests related to Mental Retardation, X-Linked Syndromic, Lubs Type:

id Genetic test Affiliating Genes
1 Mecp2 Duplication Syndrome 29 24 MECP2

Anatomical Context for Mental Retardation, X-Linked Syndromic, Lubs Type

MalaCards organs/tissues related to Mental Retardation, X-Linked Syndromic, Lubs Type:

39
Eye

Publications for Mental Retardation, X-Linked Syndromic, Lubs Type

Variations for Mental Retardation, X-Linked Syndromic, Lubs Type

ClinVar genetic disease variations for Mental Retardation, X-Linked Syndromic, Lubs Type:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MECP2 MECP2, DUP duplication Pathogenic
2 MECP2 NC_000023.9: g.(?_152730000)_(153020000_?)dup duplication Pathogenic NCBI36 Chromosome X, 152730000: 153020000
3 MECP2 NC_000023.9: g.(?_139330000)_(154580000_?)dup duplication Pathogenic NCBI36 Chromosome X, 139330000: 154580000

Expression for Mental Retardation, X-Linked Syndromic, Lubs Type

Search GEO for disease gene expression data for Mental Retardation, X-Linked Syndromic, Lubs Type.

Pathways for Mental Retardation, X-Linked Syndromic, Lubs Type

GO Terms for Mental Retardation, X-Linked Syndromic, Lubs Type

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

id Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.46 GDI1 OPRM1 PAFAH1B1 RPS6KB1
2 axon GO:0030424 9.26 OPRM1 PAFAH1B1 PVALB YWHAE
3 central region of growth cone GO:0090724 8.62 PAFAH1B1 YWHAE

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

id Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.43 CRH OPRM1 RPS6KB1
2 histone methylation GO:0016571 9.32 MECP2 NSD1
3 regulation of N-methyl-D-aspartate selective glutamate receptor activity GO:2000310 9.16 CRH OPRM1
4 cerebral cortex development GO:0021987 9.13 FLNA PAFAH1B1 YWHAE
5 chemical synaptic transmission GO:0007268 9.02 CRH MECP2 OPRM1 PAFAH1B1 PLP1

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

id Name GO ID Score Top Affiliating Genes
1 phospholipase binding GO:0043274 8.62 LMNB1 PAFAH1B1

Sources for Mental Retardation, X-Linked Syndromic, Lubs Type

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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31 HMDB
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34 ICD10 via Orphanet
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36 IUPHAR
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48 NDF-RT
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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