MCID: CLS012
MIFTS: 21

Classic Rett Syndrome malady

Category: Genetic diseases (common)

Aliases & Classifications for Classic Rett Syndrome

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Aliases & Descriptions for Classic Rett Syndrome:

Name: Classic Rett Syndrome 23

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). Affiliated tissues include lung, and related mouse phenotypes are integument and cardiovascular 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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Natural History of Rett Syndrome & Related DisordersRecruitingNCT02738281
2Biobanking of Rett Syndrome and Related DisordersRecruitingNCT02705677
3The Findings of MR Imaging in Rett SyndromeRecruitingNCT02903056

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 Syndrome23

Anatomical Context for Classic Rett Syndrome

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MalaCards organs/tissues related to Classic Rett Syndrome:

34
Lung

Animal Models for Classic Rett Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Classic Rett Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.6FOXG1, MECP2, PARK2, UBE3A
2MP:00053858.0FOXG1, MBD4, MECP2, PARK2
3MP:00053847.8FOXG1, MBD4, MECP2, PARK2, UBE3A
4MP:00107687.6FOXG1, MBD4, MECP2, PARK2, UBE3A
5MP:00036317.5FOXG1, MBD4, MECP2, PARK2, UBE3A
6MP:00053767.5FOXG1, MBD4, MECP2, PARK2, UBE3A
7MP:00053787.2FOXG1, 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
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
3
Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome. (19365833)
2009
4
Systemic oxidative stress in classic Rett syndrome. (19464363)
2009
5
Classical Rett Syndrome in a Ghanaian child: a case report. (19761180)
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
Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. (11706982)
2001
17
Clinical, neurophysiological and immunological correlations in classical Rett syndrome. (11738854)
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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GO Terms for genes affiliated with Classic Rett Syndrome

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1response to radiationGO:00093149.8MBD4, MECP2
2protein K48-linked ubiquitinationGO:00709369.7PARK2, UBE3A
3response to estradiolGO:00323559.6MBD4, MECP2
4protein autoubiquitinationGO:00518659.5PARK2, UBE3A
5negative regulation of neuron apoptotic processGO:00435249.5MECP2, PARK2
6startle responseGO:00019649.3MECP2, PARK2
7learningGO:00076129.2MECP2, PARK2
8brain developmentGO:00074209.1FOXG1, MECP2, UBE3A
9locomotory behaviorGO:00076269.1MECP2, PARK2
10adult locomotory behaviorGO:00083448.9MECP2, PARK2

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

idNameGO IDScoreTop Affiliating Genes
1histone deacetylase bindingGO:00428269.2MECP2, PARK2
2ubiquitin protein ligase activityGO:00616309.2PARK2, UBE3A

Sources for Classic Rett Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet