MCID: MNT208
MIFTS: 29

Mental Retardation, X-Linked Syndromic, Lubs Type malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories

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

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

Name: Mental Retardation, X-Linked Syndromic, Lubs Type 45 10
Mecp2 Duplication Syndrome 19 41 20 21 22
Lubs X-Linked Mental Retardation Syndrome 45 41 21 60
Trisomy Xq28 41 21 60
Mental Retardation, X-Linked, Lubs Type 41
 
Telomeric Duplication Xq 41
Xlmr Syndrome, Lubs Type 41
Distal Duplication Xq 41
Mrxsl 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases


External Ids:

OMIM45 300260

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

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Genetics Home Reference:21 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 angelman syndrome and rett 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 (Rett syndrome)). Affiliated tissues include eye.

NIH Rare Diseases:41 Lubs x-linked mental retardation is a genetic condition first described in 1999 by lubs et al. the condition  is associated with severe mental retardation, infantile hypotonia (low muscle tone), recurrent respiratory infection, absence of speech development, progressive neurological problems (such as seizures and spasticity), and mild facial abnormalities.  last updated: 12/5/2008

OMIM:45 MECP2 duplication syndrome is an X-linked neurodevelopmental disorder characterized by severe to profound mental... (300260) more...

GeneReviews summary for mecp2-dup

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 11)
idRelated DiseaseScoreTop Affiliating Genes
1angelman syndrome30.2MECP2
2rett syndrome30.0MECP2
3mental retardation, x-linked, syndromic 1310.5
4mental retardation10.5
5dystonia10.2
6learning disability10.2
7ataxia10.2
8spasticity10.2
9autism susceptibility, x-linked 310.2
10distal xq28 microduplication syndrome10.2
11encephalopathy, neonatal severe10.0

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 31)
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 seizures HP:0001250
15 ataxia HP:0001251
16 absent speech HP:0001344
17 x-linked recessive inheritance HP:0001419
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 progressive disorder HP:0003676
28 bruxism HP:0003763
29 depressed nasal bridge HP:0005280
30 infantile muscular hypotonia HP:0008947
31 severe global developmental delay HP:0011344

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

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Drug clinical trials:

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

Search 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 Syndrome20 22 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:

31
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:

6
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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Compounds 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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Products for genes affiliated with Mental Retardation, X-Linked Syndromic, Lubs Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet