MCID: MNT208
MIFTS: 29

Mental Retardation, X-Linked Syndromic, Lubs Type 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 51 12
Mecp2 Duplication Syndrome 11 23 47 24 25 69 26
Lubs X-Linked Mental Retardation Syndrome 11 25 69 38 67
Mrxsl 11 47 69
Mental Retardation, X-Linked, Syndromic, Lubs Type 11 69
Trisomy Xq28 25 67
 
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 69
Syndromic X-Linked Intellectual Disability Lubs Type 11
Mental Retardation X-Linked Lubs Type 69
Xlmr Syndrome, Lubs Type 47

Characteristics:

HPO:

63
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:

OMIM51 300260
Disease Ontology11 DOID:0060799
ICD1029 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, 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 mental retardation, x-linked, syndromic 13 and distal xq28 microduplication syndrome, and has symptoms including cryptorchidism, narrow mouth and abnormality of the teeth. An important gene associated with Mental Retardation, X-Linked Syndromic, Lubs Type is MECP2 (Methyl-CpG Binding Protein 2). Affiliated tissues include eye.

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.

NIH Rare Diseases:47 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:51 MECP2 duplication syndrome is an X-linked neurodevelopmental disorder characterized by severe to profound mental... (300260) more...

UniProtKB/Swiss-Prot:69 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 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:

idRelated DiseaseScoreTop Affiliating Genes
1mental retardation, x-linked, syndromic 1311.2
2distal xq28 microduplication syndrome11.0
3epilepsy9.8
4dystonia9.8
5learning disability9.8
6precocious puberty9.8
7ataxia9.8
8spasticity9.8

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

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

 63 (show all 32)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism63 HP:0000028
2 narrow mouth63 HP:0000160
3 abnormality of the teeth63 HP:0000164
4 brachycephaly63 HP:0000248
5 microcephaly63 HP:0000252
6 macrocephaly63 HP:0000256
7 malar flattening63 HP:0000272
8 facial hypotonia63 HP:0000297
9 low-set ears63 HP:0000369
10 macrotia63 HP:0000400
11 depression63 HP:0000716
12 anxiety63 HP:0000739
13 poor eye contact63 HP:0000817
14 intellectual disability63 HP:0001249
15 seizures63 HP:0001250
16 ataxia63 HP:0001251
17 absent speech63 HP:0001344
18 abnormality of metabolism/homeostasis63 HP:0001939
19 dysphagia63 HP:0002015
20 constipation63 HP:0002019
21 gastroesophageal reflux63 HP:0002020
22 rigidity63 HP:0002063
23 chorea63 HP:0002072
24 progressive spasticity63 HP:0002191
25 recurrent respiratory infections63 HP:0002205
26 drooling63 HP:0002307
27 bruxism63 HP:0003763
28 depressed nasal bridge63 HP:0005280
29 infantile muscular hypotonia63 HP:0008947
30 tented upper lip vermilion63 HP:0010804
31 severe global developmental delay63 HP:0011344
32 obsolete flat midface63 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


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 Syndrome26 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:

35
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, DUPduplicationPathogenicChr na, -1: -1
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet