MCID: CLS012
MIFTS: 23

Classic Rett Syndrome malady

Categories: Genetic diseases

Aliases & Classifications for Classic Rett Syndrome

Aliases & Descriptions for Classic Rett Syndrome:

Name: Classic Rett Syndrome 24

Classifications:



Summaries for Classic Rett Syndrome

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/superpathways are Ubiquitin mediated proteolysis and MECP2 and Associated Rett Syndrome. Affiliated tissues include lung, and related phenotypes are Synthetic lethal with imatinib mesylate and cellular

Related Diseases for Classic Rett Syndrome

Diseases related to Classic Rett Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
id Related Disease Score Top Affiliating Genes
1 rett syndrome 11.5
2 rett syndrome, congenital variant 11.2
3 bartter disease 9.9 MECP2 UBE3A
4 meningitis and encephalitis 9.9 MECP2 UBE3A
5 lung disease 9.7
6 dysautonomia 9.7
7 pulmonary hypertension 9.7 FOXG1 MECP2
8 spastic paraplegia 6, autosomal dominant 9.7 MBD4 MECP2 UBE3A
9 sexual disorder 9.6 FOXG1 MECP2 UBE3A
10 encephalopathy, neonatal severe 9.5 FOXG1 MBD4 MECP2 UBE3A
11 coasy-associated neurodegeneration 9.3 FOXG1 MBD4 MECP2 PRKN UBE3A

Graphical network of the top 20 diseases related to Classic Rett Syndrome:



Diseases related to Classic Rett Syndrome

Symptoms & Phenotypes for Classic Rett Syndrome

GenomeRNAi Phenotypes related to Classic Rett Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with imatinib mesylate GR00181-A 8.62 MBD4 UBE3A

MGI Mouse Phenotypes related to Classic Rett Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.77 UBE3A FOXG1 MBD4 MECP2 PRKN
2 growth/size/body region MP:0005378 9.72 UBE3A FOXG1 MBD4 MECP2 PRKN
3 cardiovascular system MP:0005385 9.71 PRKN FOXG1 MBD4 MECP2
4 homeostasis/metabolism MP:0005376 9.65 PRKN UBE3A FOXG1 MBD4 MECP2
5 integument MP:0010771 9.46 PRKN UBE3A FOXG1 MECP2
6 mortality/aging MP:0010768 9.35 PRKN UBE3A FOXG1 MBD4 MECP2
7 nervous system MP:0003631 9.02 UBE3A FOXG1 MBD4 MECP2 PRKN

Drugs & Therapeutics for Classic Rett Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 The Findings of MR Imaging in Rett Syndrome Recruiting NCT02903056
2 Natural History of Rett Syndrome & Related Disorders Recruiting NCT02738281
3 Biobanking of Rett Syndrome and Related Disorders Not yet recruiting NCT02705677

Search NIH Clinical Center for Classic Rett Syndrome

Genetic Tests for Classic Rett Syndrome

Genetic tests related to Classic Rett Syndrome:

id Genetic test Affiliating Genes
1 Classic Rett Syndrome 24

Anatomical Context for Classic Rett Syndrome

MalaCards organs/tissues related to Classic Rett Syndrome:

39
Lung

Publications for Classic Rett Syndrome

Articles related to Classic Rett Syndrome:

(show all 18)
id Title Authors Year
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
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
4
Classical Rett Syndrome in a Ghanaian child: a case report. ( 19761180 )
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
Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. ( 11706982 )
2001
16
Clinical, neurophysiological and immunological correlations in classical Rett syndrome. ( 11738854 )
2001
17
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. ( 11245712 )
2001
18
Preserved speech variant is allelic of classic Rett syndrome. ( 10854091 )
2000

Variations for Classic Rett Syndrome

Expression for Classic Rett Syndrome

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

Pathways for Classic Rett Syndrome

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

id Super pathways Score Top Affiliating Genes
1 11.09 PRKN UBE3A
2 10.42 MECP2 UBE3A

GO Terms for Classic Rett Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.4 MECP2 PRKN
2 learning GO:0007612 9.37 MECP2 PRKN
3 adult locomotory behavior GO:0008344 9.32 MECP2 PRKN
4 protein autoubiquitination GO:0051865 9.26 PRKN UBE3A
5 protein K48-linked ubiquitination GO:0070936 9.16 PRKN UBE3A
6 brain development GO:0007420 9.13 FOXG1 MECP2 UBE3A
7 startle response GO:0001964 8.62 MECP2 PRKN

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

id Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 8.96 PRKN UBE3A
2 histone deacetylase binding GO:0042826 8.62 MECP2 PRKN

Sources for Classic Rett Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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