MCID: CLS012
MIFTS: 22

Classic Rett Syndrome malady

Summaries for Classic Rett Syndrome

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32MalaCards
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MalaCards: Classic Rett Syndrome is related to rett syndrome and rett syndrome, congenital variant. 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. 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

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Drugs & Therapeutics for Classic Rett Syndrome

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5CenterWatch, 41NIH 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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Animal Models for Classic Rett Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Classic Rett Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9MECP2, FOXG1, MBD4
2MP:00107718.1PARK2, MECP2, FOXG1, UBE3A
3MP:00053867.8PARK2, MECP2, FOXG1, UBE3A
4MP:00036317.7PARK2, MECP2, FOXG1, MBD4, UBE3A
5MP:00053847.7UBE3A, MBD4, FOXG1, MECP2, PARK2
6MP:00053787.6PARK2, MECP2, FOXG1, MBD4, UBE3A
7MP:00053767.6UBE3A, MBD4, FOXG1, MECP2, PARK2
8MP:00107687.4UBE3A, MBD4, FOXG1, MECP2, PARK2

Publications for Classic Rett Syndrome

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Genetic Variations for Classic Rett Syndrome

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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

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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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44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Classic Rett Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
15-methylcytosine44 2410.6MECP2, MBD4
25-aza-2deoxycytidine449.5MECP2, MBD4
3cytosine44 2410.4MECP2, MBD4
4guanine44 11 2411.1MBD4, MECP2, PARK2
5oligonucleotide449.0MBD4, MECP2, PARK2
6alanine448.4PARK2, MECP2, UBE3A
7zinc44 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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Classic Rett Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet