MCID: RTT007
MIFTS: 13

Rett Syndrome, Preserved Speech Variant malady

Summaries for Rett Syndrome, Preserved Speech Variant

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46OMIM, 32MalaCards
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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:46 312750

Aliases & Classifications for Rett Syndrome, Preserved Speech Variant

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46OMIM
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Aliases & Descriptions:

rett syndrome, preserved speech variant 46


Related Diseases for Rett Syndrome, Preserved Speech Variant

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Sources:
17GeneCards, 18GeneDecks
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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

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46OMIM
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Clinical features from OMIM:

312750

Drugs & Therapeutics for Rett Syndrome, Preserved Speech Variant

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Rett Syndrome, Preserved Speech Variant

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Genetic Tests for Rett Syndrome, Preserved Speech Variant

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Anatomical Context for Rett Syndrome, Preserved Speech Variant

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

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Publications for Rett Syndrome, Preserved Speech Variant

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Genetic Variations for Rett Syndrome, Preserved Speech Variant

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Rett Syndrome, Preserved Speech Variant:

62 (show all 39)
id Symbol AA change Variation ID SNP ID
1MECP2p.Arg106TrpVAR_010272rs28934907
2MECP2p.Arg133CysVAR_010273rs28934904
3MECP2p.Phe155SerVAR_010274rs28934905
4MECP2p.Thr158MetVAR_010275rs28934906
5MECP2p.Pro101ArgVAR_010276
6MECP2p.Leu124PheVAR_010277
7MECP2p.Ser134CysVAR_010278
8MECP2p.Pro152ArgVAR_010280
9MECP2p.Arg306CysVAR_010282rs28935468
10MECP2p.Leu100ValVAR_017462rs28935168
11MECP2p.Glu10GlnVAR_018180
12MECP2p.Asp97TyrVAR_018182
13MECP2p.Pro101HisVAR_018183
14MECP2p.Pro101LeuVAR_018184
15MECP2p.Pro101ThrVAR_018185
16MECP2p.Arg106GlnVAR_018186
17MECP2p.Arg111GlyVAR_018187
18MECP2p.Gln128ProVAR_018188
19MECP2p.Arg133HisVAR_018189
20MECP2p.Lys135GluVAR_018190
21MECP2p.Asp156GlyVAR_018191
22MECP2p.Lys210IleVAR_018197
23MECP2p.Pro225ArgVAR_018198
24MECP2p.Pro302AlaVAR_018206
25MECP2p.Pro302HisVAR_018207
26MECP2p.Pro302LeuVAR_018208
27MECP2p.Pro302ArgVAR_018209
28MECP2p.Lys305ArgVAR_018210
29MECP2p.Arg306HisVAR_018211
30MECP2p.Pro322AlaVAR_018212
31MECP2p.Pro322LeuVAR_018213
32MECP2p.Arg344TrpVAR_018214
33MECP2p.Asp97GluVAR_023552
34MECP2p.Leu100ArgVAR_023553
35MECP2p.Pro101SerVAR_023554
36MECP2p.Tyr120AspVAR_023555
37MECP2p.Phe155IleVAR_023556
38MECP2p.Thr158AlaVAR_023557
39MECP2p.Gly161ValVAR_023558

Expression for genes affiliated with Rett Syndrome, Preserved Speech Variant

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

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Pathways for genes affiliated with Rett Syndrome, Preserved Speech Variant

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Compounds for genes affiliated with Rett Syndrome, Preserved Speech Variant

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

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Products for genes affiliated with Rett Syndrome, Preserved Speech Variant

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Rett Syndrome, Preserved Speech Variant

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet