MCID: CLS012
MIFTS: 31

Classic Rett Syndrome malady

Genetic diseases (common) category

Summaries for Classic Rett Syndrome

About this section
Sources:
34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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 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.

Aliases & Classifications for Classic Rett Syndrome

About this section
Sources:
21GeneTests
See all sources

Classifications:

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


Aliases & Descriptions:

classic rett syndrome 21


Related Diseases for Classic Rett Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Graphical network of diseases related to Classic Rett Syndrome:



Diseases related to classic rett syndrome

Symptoms for Classic Rett Syndrome

About this section

Drugs & Therapeutics for Classic Rett Syndrome

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

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

About this section
Sources:
21GeneTests
See all sources

Genetic tests related to Classic Rett Syndrome:

id Genetic test Affiliating Genes
1 Classic Rett Syndrome21

Anatomical Context for Classic Rett Syndrome

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Classic Rett Syndrome:

34
Lung

Animal Models for Classic Rett Syndrome or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Classic Rett Syndrome:

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

Publications for Classic Rett Syndrome

About this section
Sources:
53PubMed
See all sources

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

About this section

Expression for genes affiliated with Classic Rett Syndrome

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 5Cell Signaling Technology, 56Reactome, 13EMD Millipore
See all sources

Compounds for genes affiliated with Classic Rett Syndrome

About this section
Sources:
46Novoseek, 25HMDB, 12DrugBank
See all sources

Compounds related to Classic Rett Syndrome according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
15-methylcytosine46 2510.7MBD4, MECP2
2cytosine46 2510.6MECP2, MBD4
35-aza-2deoxycytidine469.6MBD4, MECP2
4gaba469.2MECP2, UBE3A
5guanine46 25 1211.2PARK2, MECP2, MBD4
6oligonucleotide469.2MBD4, MECP2, PARK2
7pyrophosphate46 2510.1UBE3A, PARK2
8Adenosine monophosphate25 1210.0UBE3A, PARK2
9phosphoric acid46 259.8UBE3A, PARK2
10alanine468.8UBE3A, MECP2, PARK2
11zinc46 259.4MBD4, UBE3A, MECP2, PARK2

GO Terms for genes affiliated with Classic Rett Syndrome

About this section
Sources:
17Gene Ontology
See all sources

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

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

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

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

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

idNameGO IDScoreTop Affiliating Genes
1ubiquitin-protein ligase activityGO:0048429.1UBE3A, PARK2
2protein bindingGO:0055157.2MBD4, UBE3A, FOXG1, MECP2, PARK2

Products for genes affiliated with Classic Rett Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Classic Rett Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet