MCID: CLS012
MIFTS: 31

Classic Rett Syndrome malady

Genetic diseases (common) category
Download this MalaCard

Summaries for Classic Rett Syndrome

About this section


Fully expand this MalaCard
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.

Aliases & Classifications for Classic Rett Syndrome

About this section

Classic Rett Syndrome, Aliases & Descriptions:

Name: Classic Rett Syndrome 20


Classifications:

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


Related Diseases for Classic Rett Syndrome

About this section

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

Drug clinical trials:

Search ClinicalTrials for Classic Rett Syndrome

Search NIH Clinical Center for Classic Rett Syndrome

Genetic Tests for Classic Rett Syndrome

About this section

Genetic tests related to Classic Rett Syndrome:

id Genetic test Affiliating Genes
1 Classic Rett Syndrome20

Anatomical Context for Classic Rett Syndrome

About this section

MalaCards organs/tissues related to Classic Rett Syndrome:

32
Lung

Animal Models for Classic Rett Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Classic Rett Syndrome:

36 (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

About this section

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
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

Compounds for genes affiliated with Classic Rett Syndrome

About this section
Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

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

(show all 11)
idCompoundScoreTop Affiliating Genes
15-methylcytosine44 2410.7MBD4, MECP2
2cytosine44 2410.6MECP2, MBD4
35-aza-2deoxycytidine449.6MBD4, MECP2
4gaba449.2MECP2, UBE3A
5guanine44 24 1111.2PARK2, MECP2, MBD4
6oligonucleotide449.2MBD4, MECP2, PARK2
7pyrophosphate44 2410.1UBE3A, PARK2
8Adenosine monophosphate24 1110.0UBE3A, PARK2
9phosphoric acid44 249.8UBE3A, PARK2
10alanine448.8UBE3A, MECP2, PARK2
11zinc44 249.4MBD4, UBE3A, MECP2, PARK2

GO Terms for genes affiliated with Classic Rett Syndrome

About this section

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

Sources for Classic Rett Syndrome

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet