MCID: MNT208
MIFTS: 31

Mental Retardation, X-Linked Syndromic, Lubs Type malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental 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 50 12
Mecp2 Duplication Syndrome 22 46 23 24 68 25
Lubs X-Linked Mental Retardation Syndrome 46 24 68 66
Trisomy Xq28 24 66
Mrxsl 46 68
 
Mental Retardation X-Linked with Recurrent Respiratory Infections 68
Mental Retardation, X-Linked, Syndromic, Lubs Type 68
Mental Retardation, X-Linked, Lubs Type 46
Mental Retardation X-Linked Lubs Type 68
Xlmr Syndrome, Lubs Type 46

Characteristics:

HPO:

62
mental retardation, x-linked syndromic, lubs type:
Inheritance: x-linked recessive inheritance
Onset and clinical course: progressive


Classifications:



External Ids:

OMIM50 300260
MeSH37 D038901

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

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Genetics Home Reference:24 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, seizures that may not improve with treatment, or muscle stiffness (spasticity). Individuals with MECP2 duplication syndrome have delayed development of motor skills such as sitting and walking. Some affected individuals experience the loss of previously acquired skills (developmental regression). Approximately one third of people with this condition cannot walk without assistance. Many individuals with MECP2 duplication syndrome have recurrent respiratory tract infections. These respiratory infections are a major cause of death in affected individuals, with almost half succumbing by age 25.

MalaCards based summary: Mental Retardation, X-Linked Syndromic, Lubs Type, also known as mecp2 duplication syndrome, is related to encephalopathy, neonatal severe and autism susceptibility, x-linked 3, 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.

NIH Rare Diseases:46 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:68 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:50 MECP2 duplication syndrome is an X-linked neurodevelopmental disorder characterized by severe to profound mental... (300260) more...

GeneReviews summary for NBK1284

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

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

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1encephalopathy, neonatal severe30.6MECP2, MRXSL
2autism susceptibility, x-linked 330.4MECP2, MRXSL
3mental retardation, x-linked, syndromic 1311.3
4distal xq28 microduplication syndrome11.1
5rett syndrome10.9
6epilepsy9.9
7dystonia9.9
8learning disability9.9
9precocious puberty9.9
10ataxia9.9
11spasticity9.9
12microphthalmia, syndromic 19.6MECP2, MRXSL
13ck syndrome9.5MECP2, MRXSL
14mental retardation, x-linked syndromic, lubs type9.4MECP2, MRXSL

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



Diseases related to mental retardation, x-linked syndromic, lubs type

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

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Symptoms by clinical synopsis from OMIM:

300260

Clinical features from OMIM:

300260

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

(show all 32)
id Description Frequency HPO Source Accession
1 cryptorchidism HP:0000028
2 narrow mouth HP:0000160
3 abnormality of the teeth HP:0000164
4 brachycephaly HP:0000248
5 microcephaly HP:0000252
6 macrocephaly HP:0000256
7 malar flattening HP:0000272
8 facial hypotonia HP:0000297
9 low-set ears HP:0000369
10 macrotia HP:0000400
11 depression HP:0000716
12 anxiety HP:0000739
13 poor eye contact HP:0000817
14 intellectual disability HP:0001249
15 seizures HP:0001250
16 ataxia HP:0001251
17 absent speech HP:0001344
18 abnormality of metabolism/homeostasis HP:0001939
19 dysphagia HP:0002015
20 constipation HP:0002019
21 gastroesophageal reflux HP:0002020
22 rigidity HP:0002063
23 chorea HP:0002072
24 progressive spasticity HP:0002191
25 recurrent respiratory infections HP:0002205
26 drooling HP:0002307
27 bruxism HP:0003763
28 depressed nasal bridge HP:0005280
29 infantile muscular hypotonia HP:0008947
30 tented upper lip vermilion HP:0010804
31 severe global developmental delay HP:0011344
32 obsolete flat midface HP:0040199

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


ataxia, constipation, drooling, muscle rigidity, seizures, sleep disturbances

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

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Interventional clinical trials:

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

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 Syndrome25 23 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:

34
Eye

Animal Models for Mental Retardation, X-Linked Syndromic, Lubs Type or affiliated genes

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet