MCID: CLS012
MIFTS: 23

Classic Rett Syndrome malady

Genetic diseases (common) category

Aliases & Classifications for Classic Rett Syndrome

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Aliases & Descriptions for Classic Rett Syndrome:

Name: Classic Rett Syndrome 22


Classifications:



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), and among its related pathways is Coregulation of Androgen receptor activity. Affiliated tissues include lung, and related mouse phenotypes are integument and cellular.

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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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome22

Anatomical Context for Classic Rett Syndrome

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MalaCards organs/tissues related to Classic Rett Syndrome:

33
Lung

Animal Models for Classic Rett Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Classic Rett Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.2FOXG1, MECP2, PARK2, UBE3A
2MP:00053847.8FOXG1, MBD4, MECP2, PARK2, UBE3A
3MP:00107687.7FOXG1, MBD4, MECP2, PARK2, UBE3A
4MP:00053787.6FOXG1, MBD4, MECP2, PARK2, UBE3A
5MP:00053767.5FOXG1, MBD4, MECP2, PARK2, UBE3A
6MP:00036317.2FOXG1, MBD4, MECP2, PARK2, UBE3A

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
19.3MBD4, UBE3A

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:00056347.5FOXG1, MBD4, MECP2, PARK2, UBE3A

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1startle responseGO:00019649.7MECP2, PARK2
2protein K48-linked ubiquitinationGO:00709369.6PARK2, UBE3A
3adult locomotory behaviorGO:00083449.5MECP2, PARK2
4protein ubiquitination involved in ubiquitin-dependent protein catabolic processGO:00427879.4PARK2, UBE3A
5negative regulation of neuron apoptotic processGO:00435249.3MECP2, PARK2
6protein autoubiquitinationGO:00518659.3PARK2, UBE3A
7learningGO:00076129.2MECP2, PARK2
8response to radiationGO:00093149.1MBD4, MECP2
9locomotory behaviorGO:00076269.1MECP2, PARK2
10brain developmentGO:00074209.0FOXG1, MECP2, UBE3A

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

idNameGO IDScoreTop Affiliating Genes
1histone deacetylase bindingGO:00428269.2MECP2, PARK2

Sources for Classic Rett Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet