MCID: CLS012
MIFTS: 26

Classic Rett Syndrome malady

Summaries for Classic Rett Syndrome

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33MalaCards
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MalaCards: Classic Rett Syndrome is related to rett syndrome and n syndrome. An important gene associated with Classic Rett Syndrome is MECP2 (methyl CpG binding protein 2 (Rett syndrome)), and among its related pathways is Protein Stability. The compounds 5-methylcytosine and 5-aza-2deoxycytidine have been mentioned in the context of this disorder. Affiliated tissues include lung, and related mouse phenotypes are craniofacial and integument.

Aliases & Classifications for Classic Rett Syndrome

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20GeneTests
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Aliases & Descriptions:

classic rett syndrome 20


Related Diseases for Classic Rett Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Classic Rett Syndrome:



Diseases related to classic rett syndrome

Clinical Features for Classic Rett Syndrome

Drugs & Therapeutics for Classic Rett Syndrome

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Classic Rett Syndrome

Drug clinical trials:

Search ClinicalTrials for Classic Rett Syndrome

Search NIH Clinical Center for Classic Rett Syndrome

Search CenterWatch for Classic Rett Syndrome

Genetic Tests for Classic Rett Syndrome

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20GeneTests
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Genetic tests related to Classic Rett Syndrome:

id Genetic test Affiliating Genes
1 Classic Rett Syndrome20

Anatomical Context for Classic Rett Syndrome

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33MalaCards
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MalaCards organs/tissues related to Classic Rett Syndrome:

33
Lung

Animal Models for Classic Rett Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Classic Rett Syndrome

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51PubMed
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Articles related to Classic Rett Syndrome:

(show all 20)
idTitleAuthorsYear
1
Unrecognized lung disease in classic Rett syndrome: a physiologic and high-resolution CT imaging study. (20348192)
2010
2
Systemic oxidative stress in classic Rett syndrome. (19464363)
2009
3
Classical Rett Syndrome in a Ghanaian child: a case report. (19761180)
2009
4
Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin. (19371229)
2009
5
Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome. (19365833)
2009
6
Homozygosity for MECP2 gene in a girl with classical Rett syndrome. (17881312)
2007
7
Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. (18174559)
2007
8
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. (16183801)
2006
9
Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome. (17026625)
2006
10
A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1. (17101000)
2006
11
Another patient with MECP2 mutation without classic Rett syndrome phenotype. (15866439)
2005
12
Classic Rett syndrome in a boy with R133C mutation of MECP2. (16122633)
2005
13
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. (15057977)
2004
14
Clinical phenotypes of classic Rett syndrome]. (12599117)
2003
15
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. (11896459)
2002
16
Progressive cardiac dysautonomia observed in patients affected by classic Rett syndrome and not in the preserved speech variant. (11392524)
2001
17
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. (11245712)
2001
18
Clinical, neurophysiological and immunological correlations in classical Rett syndrome. (11738854)
2001
19
Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. (11706982)
2001
20
Preserved speech variant is allelic of classic Rett syndrome. (10854091)
2000

Genetic Variations for Classic Rett Syndrome

Expression for genes affiliated with Classic Rett Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Classic Rett Syndrome

Search GEO for disease gene expression data for Classic Rett Syndrome.

Pathways for genes affiliated with Classic Rett Syndrome

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4Cell Signaling Technology
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Pathways related to Classic Rett Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1PARK2, UBE3A

Compounds for genes affiliated with Classic Rett Syndrome

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45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Classic Rett Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
15-methylcytosine45 2410.6MECP2, MBD4
25-aza-2deoxycytidine459.5MECP2, MBD4
3cytosine45 2410.4MECP2, MBD4
4guanine45 11 2411.1MBD4, MECP2, PARK2
5oligonucleotide459.0MBD4, MECP2, PARK2
6alanine458.4PARK2, MECP2, UBE3A
7zinc45 249.3PARK2, MECP2, MBD4, UBE3A

GO Terms for genes affiliated with Classic Rett Syndrome

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16Gene Ontology
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Cellular components related to Classic Rett Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.5PARK2, MECP2, FOXG1, MBD4, UBE3A

Biological processes related to Classic Rett Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of neuron apoptotic processGO:0435249.4MECP2, PARK2
2protein K48-linked ubiquitinationGO:0709369.2PARK2, UBE3A
3protein ubiquitination involved in ubiquitin-dependent protein catabolic processGO:0427879.1PARK2, UBE3A
4brain developmentGO:0074209.0FOXG1, UBE3A
5ubiquitin-dependent protein catabolic processGO:0065118.8PARK2, UBE3A

Molecular functions related to Classic Rett Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.5PARK2, MECP2, FOXG1, MBD4, UBE3A

Products for genes affiliated with Classic Rett Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Classic Rett Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet