MCID: RTT007
MIFTS: 10

Rett Syndrome, Preserved Speech Variant malady

Summaries for Rett Syndrome, Preserved Speech Variant

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Rett Syndrome, Preserved Speech Variant is related to rett syndrome and mental retardation. An important gene associated with Rett Syndrome, Preserved Speech Variant is MECP2 (methyl CpG binding protein 2 (Rett syndrome)).

Description from OMIM:47 312750

Aliases & Classifications for Rett Syndrome, Preserved Speech Variant

Sources:
47OMIM
See all sources

Aliases & Descriptions:

rett syndrome, preserved speech variant 47


Related Diseases for Rett Syndrome, Preserved Speech Variant

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Rett Syndrome, Preserved Speech Variant via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1rett syndrome10.5
2mental retardation10.0MECP2

Clinical Features for Rett Syndrome, Preserved Speech Variant

Sources:
47OMIM
See all sources

Clinical features from OMIM:

312750

Drugs & Therapeutics for Rett Syndrome, Preserved Speech Variant

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Rett Syndrome, Preserved Speech Variant

Drug clinical trials:

Search ClinicalTrials for Rett Syndrome, Preserved Speech Variant

Search NIH Clinical Center for Rett Syndrome, Preserved Speech Variant

Search CenterWatch for Rett Syndrome, Preserved Speech Variant

Genetic Tests for Rett Syndrome, Preserved Speech Variant

Anatomical Context for Rett Syndrome, Preserved Speech Variant

Animal Models for Rett Syndrome, Preserved Speech Variant or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Rett Syndrome, Preserved Speech Variant

Sources:
51PubMed
See all sources

Articles related to Rett Syndrome, Preserved Speech Variant:

idTitleAuthorsYear
1
Three different profiles: Early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development. (24088025)
2014
2
Developmental profile of speech-language and communicative functions in an individual with the Preserved Speech Variant of Rett syndrome. (23870013)
2013
3
Early speech-language development in females with Rett syndrome: focusing on the preserved speech variant. (22348320)
2012
4
Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome. (22699249)
2012
5
'Relabelling the preserved speech variant of Rett syndrome?'. (20002131)
2010
6
Case report: Retracing atypical development: a preserved speech variant of Rett syndrome. (19224352)
2009
7
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). (18562141)
2009
8
Progressive cardiac dysautonomia observed in patients affected by classic Rett syndrome and not in the preserved speech variant. (11392524)
2001
9
Preserved speech variants of the Rett syndrome: molecular and clinical analysis. (11746022)
2001
10
Preserved speech variant is allelic of classic Rett syndrome. (10854091)
2000

Genetic Variations for Rett Syndrome, Preserved Speech Variant

Expression for genes affiliated with Rett Syndrome, Preserved Speech Variant

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Rett Syndrome, Preserved Speech Variant

Search GEO for disease gene expression data for Rett Syndrome, Preserved Speech Variant.

Pathways for genes affiliated with Rett Syndrome, Preserved Speech Variant

Compounds for genes affiliated with Rett Syndrome, Preserved Speech Variant

GO Terms for genes affiliated with Rett Syndrome, Preserved Speech Variant

Products for genes affiliated with Rett Syndrome, Preserved Speech Variant

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Rett Syndrome, Preserved Speech Variant

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet