MCID: CLS012
MIFTS: 26

Classic Rett Syndrome malady

Genetic diseases (common) category

Aliases & Classifications for Classic Rett Syndrome

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Classic Rett Syndrome, Aliases & Descriptions:

Name: Classic Rett Syndrome 20


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Summaries for Classic Rett Syndrome

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MalaCards based summary: 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 are Neuroscience and Protein Stability. The compounds 5-methylcytosine and cytosine have been mentioned in the context of this disorder. Affiliated tissues include lung, and related mouse phenotypes are craniofacial and respiratory system.

Related Diseases for Classic Rett Syndrome

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Graphical network of diseases related to Classic Rett Syndrome:



Diseases related to classic rett syndrome

Symptoms for Classic Rett Syndrome

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Drugs & Therapeutics for Classic Rett Syndrome

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Drug clinical trials:

Search ClinicalTrials for Classic Rett Syndrome

Search NIH Clinical Center for Classic Rett Syndrome

Genetic Tests for Classic Rett Syndrome

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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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MalaCards organs/tissues related to Classic Rett Syndrome:

31
Lung

Animal Models for Classic Rett Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Classic Rett Syndrome:

35 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0MECP2, FOXG1, MBD4
2MP:00053888.9PARK2, MECP2, FOXG1
3MP:00053908.9FOXG1, MECP2, PARK2
4MP:00053918.8MBD4, FOXG1, MECP2
5MP:00030128.7UBE3A, MECP2, PARK2
6MP:00053798.3MECP2, FOXG1, UBE3A
7MP:00107718.2PARK2, MECP2, FOXG1, UBE3A
8MP:00053868.2UBE3A, FOXG1, MECP2, PARK2
9MP:00053847.8MBD4, UBE3A, FOXG1, MECP2, PARK2
10MP:00036317.8PARK2, MECP2, FOXG1, UBE3A, MBD4
11MP:00053787.8PARK2, MECP2, FOXG1, UBE3A, MBD4
12MP:00053767.8MBD4, UBE3A, FOXG1, MECP2, PARK2
13MP:00107687.7PARK2, MECP2, FOXG1, UBE3A, MBD4

Publications for Classic Rett Syndrome

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Articles related to Classic Rett Syndrome:

(show all 18)
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
Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome. (17026625)
2006
9
A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1. (17101000)
2006
10
Another patient with MECP2 mutation without classic Rett syndrome phenotype. (15866439)
2005
11
Classic Rett syndrome in a boy with R133C mutation of MECP2. (16122633)
2005
12
Clinical phenotypes of classic Rett syndrome]. (12599117)
2003
13
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. (11896459)
2002
14
Progressive cardiac dysautonomia observed in patients affected by classic Rett syndrome and not in the preserved speech variant. (11392524)
2001
15
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. (11245712)
2001
16
Clinical, neurophysiological and immunological correlations in classical Rett syndrome. (11738854)
2001
17
Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. (11706982)
2001
18
Preserved speech variant is allelic of classic Rett syndrome. (10854091)
2000

Variations for Classic Rett Syndrome

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Expression for genes affiliated with Classic Rett Syndrome

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

Pathways for genes affiliated with Classic Rett Syndrome

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Pathways related to Classic Rett Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5MECP2, PARK2
29.1UBE3A, PARK2
3
Show member pathways
9.1UBE3A, PARK2

Compounds for genes affiliated with Classic Rett Syndrome

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Sources:
43Novoseek, 24HMDB, 12DrugBank
See all sources

Compounds related to Classic Rett Syndrome according to GeneCards Suite gene sharing:

(show all 11)
idCompoundScoreTop Affiliating Genes
15-methylcytosine43 2410.7MBD4, MECP2
2cytosine43 2410.6MECP2, MBD4
35-aza-2deoxycytidine439.6MBD4, MECP2
4gaba439.2MECP2, UBE3A
5guanine43 24 1211.2PARK2, MECP2, MBD4
6oligonucleotide439.2MBD4, MECP2, PARK2
7pyrophosphate43 2410.1UBE3A, PARK2
8Adenosine monophosphate24 1210.0UBE3A, PARK2
9phosphoric acid43 249.8UBE3A, PARK2
10alanine438.8UBE3A, MECP2, PARK2
11zinc43 249.4MBD4, UBE3A, MECP2, PARK2

GO Terms for genes affiliated with Classic Rett Syndrome

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Cellular components related to Classic Rett Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056347.5MBD4, UBE3A, FOXG1, MECP2, PARK2

Biological processes related to Classic Rett Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of neuron apoptotic processGO:00435249.4PARK2, MECP2
2protein K48-linked ubiquitinationGO:00709369.2UBE3A, PARK2
3protein ubiquitination involved in ubiquitin-dependent protein catabolic processGO:00427879.1UBE3A, PARK2
4brain developmentGO:00074209.0UBE3A, FOXG1
5ubiquitin-dependent protein catabolic processGO:00065118.8UBE3A, PARK2

Molecular functions related to Classic Rett Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ubiquitin-protein ligase activityGO:00048429.1UBE3A, PARK2
2protein bindingGO:00055157.2MBD4, UBE3A, FOXG1, MECP2, PARK2

Products for genes affiliated with Classic Rett Syndrome

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

Sources for Classic Rett Syndrome

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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