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

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

Name: Mental Retardation, X-Linked Syndromic, Lubs Type 52 12
Mecp2 Duplication Syndrome 11 23 48 24 25 70 27
Lubs X-Linked Mental Retardation Syndrome 11 25 70 39 68
Mrxsl 11 48 70
Syndromic X-Linked Intellectual Disability Lubs Type 11 13
Mental Retardation, X-Linked, Syndromic, Lubs Type 11 70
 
Trisomy Xq28 25 68
X-Linked Intellectual Disability-Hypotonia-Recurrent Infections Syndrome 11
Mental Retardation, X-Linked, with Recurrent Respiratory Infections 11
Mental Retardation X-Linked with Recurrent Respiratory Infections 70
Mental Retardation X-Linked Lubs Type 70
Xlmr Syndrome, Lubs Type 48

Characteristics:

HPO:

64
mental retardation, x-linked syndromic, lubs type:
Inheritance: x-linked recessive inheritance
Onset and clinical course: progressive

GeneReviews:

23
Penetrance: mecp2 duplications are believed to be completely penetrant in males...


Classifications:



External Ids:

OMIM52 300260
Disease Ontology11 DOID:0060799
ICD1030 Q87.8

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

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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, ataxia and constipation. 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 mouse phenotypes are reproductive system and nervous system.

NIH Rare Diseases:48 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

UniProtKB/Swiss-Prot:70 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.

OMIM:52 MECP2 duplication syndrome is an X-linked neurodevelopmental disorder characterized by severe to profound mental... (300260) more...

Disease Ontology:11 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.

GeneReviews for NBK1284

Related Diseases for Mental Retardation, X-Linked Syndromic, Lubs Type

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Graphical network of 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

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Symptoms by clinical synopsis from OMIM:

300260

Clinical features from OMIM:

300260

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

 64 (show all 46)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism64 HP:0000028
2 narrow mouth64 HP:0000160
3 abnormality of the teeth64 HP:0000164
4 brachycephaly64 HP:0000248
5 microcephaly64 HP:0000252
6 macrocephaly64 HP:0000256
7 malar flattening64 HP:0000272
8 facial hypotonia64 HP:0000297
9 low-set ears64 HP:0000369
10 macrotia64 HP:0000400
11 depression64 HP:0000716
12 anxiety64 HP:0000739
13 poor eye contact64 HP:0000817
14 intellectual disability64 HP:0001249
15 seizures64 HP:0001250
16 ataxia64 HP:0001251
17 absent speech64 HP:0001344
18 abnormality of metabolism/homeostasis64 HP:0001939
19 dysphagia64 HP:0002015
20 constipation64 HP:0002019
21 gastroesophageal reflux64 HP:0002020
22 rigidity64 HP:0002063
23 chorea64 HP:0002072
24 progressive spasticity64 HP:0002191
25 recurrent respiratory infections64 HP:0002205
26 drooling64 HP:0002307
27 bruxism64 HP:0003763
28 depressed nasal bridge64 HP:0005280
29 infantile muscular hypotonia64 HP:0008947
30 tented upper lip vermilion64 HP:0010804
31 severe global developmental delay64 HP:0011344
32 midface retrusion64 HP:0011800
33 hypospadias64 HP:0000047
34 everted lower lip vermilion64 HP:0000232
35 epicanthus64 HP:0000286
36 ptosis64 HP:0000508
37 blepharophimosis64 HP:0000581
38 pectus excavatum64 HP:0000767
39 gait disturbance64 HP:0001288
40 joint stiffness64 HP:0001387
41 neurological speech impairment64 HP:0002167
42 delayed skeletal maturation64 HP:0002750
43 abnormality of chromosome segregation64 HP:0002916
44 hernia of the abdominal wall64 HP:0004299
45 short stature64 HP:0004322
46 intellectual disability, severe64 HP:0010864

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 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.0ATRX, FLNA, MECP2, OPRM1, PAFAH1B1, PLP1
2MP:00036317.3ATP6AP1, ATRX, CRH, FLNA, GDI1, LMNB1
3MP:00053847.1ATRX, CRH, FLNA, IRAK1, LMNB1, MECP2
4MP:00107687.1ATP6AP1, ATRX, FLNA, IRAK1, LMNB1, MECP2

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic and Physical Characteristics of Rett SyndromeCompletedNCT00299312
2Rare Diseases Clinical Research Network: Neurophysiological CorrelatesRecruitingNCT03077308
3Natural History of Rett Syndrome & Related DisordersRecruitingNCT02738281
4Biobanking of Rett Syndrome and Related DisordersNot yet recruitingNCT02705677

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

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

id Genetic test Affiliating Genes
1 Mecp2 Duplication Syndrome27 24 MECP2

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

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

36
Eye

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

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

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1MECP2MECP2, DUPduplicationPathogenic
2MECP2NC_ 000023.9: g.(?_ 152730000)_ (153020000_ ?)dupduplicationPathogenicNCBI36Chr X, 152730000: 153020000
3MECP2NC_ 000023.9: g.(?_ 139330000)_ (154580000_ ?)dupduplicationPathogenicNCBI36Chr X, 139330000: 154580000

Expression for genes affiliated with Mental Retardation, X-Linked Syndromic, Lubs Type

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

Pathways for genes affiliated with Mental Retardation, X-Linked Syndromic, Lubs Type

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

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

idNameGO IDScoreTop Affiliating Genes
1central region of growth coneGO:009072410.6PAFAH1B1, YWHAE
2axonGO:00304249.5OPRM1, PAFAH1B1, PVALB, YWHAE
3neuron projectionGO:00430059.2GDI1, OPRM1, PAFAH1B1, RPS6KB1

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

idNameGO IDScoreTop Affiliating Genes
1histone methylationGO:001657110.6MECP2, NSD1
2cerebral cortex developmentGO:002198710.3FLNA, PAFAH1B1, YWHAE
3regulation of N-methyl-D-aspartate selective glutamate receptor activityGO:200031010.3CRH, OPRM1
4chemical synaptic transmissionGO:00072689.6CRH, MECP2, OPRM1, PAFAH1B1, PLP1
5response to ethanolGO:00454719.2CRH, OPRM1, RPS6KB1

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

idNameGO IDScoreTop Affiliating Genes
1phospholipase bindingGO:00432749.9LMNB1, PAFAH1B1

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet