MCID: MNT208
MIFTS: 30

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 49 11
Mecp2 Duplication Syndrome 21 45 22 23 67 24
Lubs X-Linked Mental Retardation Syndrome 45 23 67 65
Trisomy Xq28 23 65
Mrxsl 45 67
 
Mental Retardation X-Linked with Recurrent Respiratory Infections 67
Mental Retardation, X-Linked, Syndromic, Lubs Type 67
Mental Retardation, X-Linked, Lubs Type 45
Mental Retardation X-Linked Lubs Type 67
Xlmr Syndrome, Lubs Type 45

Characteristics:

HPO:

61
mental retardation, x-linked syndromic, lubs type:
Onset and clinical course: progressive
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM49 300260
MeSH36 D038901
UMLS65 C1846058, C3714043

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

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Genetics Home Reference:23 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 obsolete flat midface, severe global developmental delay and tented upper lip vermilion. 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:45 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:49 MECP2 duplication syndrome is an X-linked neurodevelopmental disorder characterized by severe to profound mental... (300260) more...

UniProtKB/Swiss-Prot:67 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 summary 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 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 obsolete flat midface HP:0040199
2 severe global developmental delay HP:0011344
3 tented upper lip vermilion HP:0010804
4 infantile muscular hypotonia HP:0008947
5 depressed nasal bridge HP:0005280
6 bruxism HP:0003763
7 drooling HP:0002307
8 recurrent respiratory infections HP:0002205
9 progressive spasticity HP:0002191
10 chorea HP:0002072
11 rigidity HP:0002063
12 gastroesophageal reflux HP:0002020
13 constipation HP:0002019
14 dysphagia HP:0002015
15 abnormality of metabolism/homeostasis HP:0001939
16 absent speech HP:0001344
17 ataxia HP:0001251
18 seizures HP:0001250
19 intellectual disability HP:0001249
20 poor eye contact HP:0000817
21 anxiety HP:0000739
22 depression HP:0000716
23 macrotia HP:0000400
24 low-set ears HP:0000369
25 facial hypotonia HP:0000297
26 malar flattening HP:0000272
27 macrocephaly HP:0000256
28 microcephaly HP:0000252
29 brachycephaly HP:0000248
30 abnormality of the teeth HP:0000164
31 narrow mouth HP:0000160
32 cryptorchidism HP:0000028

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 Syndrome22 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:

33
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

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet