MCID: RTT007
MIFTS: 14

Rett Syndrome, Preserved Speech Variant malady

Genetic diseases (common) category

Summaries for Rett Syndrome, Preserved Speech Variant

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

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

Description from OMIM:48 312750

Aliases & Classifications for Rett Syndrome, Preserved Speech Variant

About this section
Sources:
48OMIM
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

rett syndrome, preserved speech variant 48


Related Diseases for Rett Syndrome, Preserved Speech Variant

About this section
Sources:
18GeneCards, 19GeneDecks
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 syndrome30.8MECP2
2angelman syndrome10.0MECP2

Symptoms for Rett Syndrome, Preserved Speech Variant

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

312750

Drugs & Therapeutics for Rett Syndrome, Preserved Speech Variant

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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

About this section

Anatomical Context for Rett Syndrome, Preserved Speech Variant

About this section

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

About this section

Publications for Rett Syndrome, Preserved Speech Variant

About this section

Variations for Rett Syndrome, Preserved Speech Variant

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65 (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

Clinvar genetic disease variations for Rett Syndrome, Preserved Speech Variant:

1 (show all 25)
id Gene Name Type Significance SNP ID Assembly Location
1MECP2NM_001110792.1(MECP2): c.433C> T (p.Arg145Cys)single nucleotide variantPathogenicrs28934904GRCh37Chr X, 153296882: 153296882
2MECP2NM_001110792.1(MECP2): c.500T> C (p.Phe167Ser)single nucleotide variantPathogenicrs28934905GRCh37Chr X, 153296815: 153296815
3MECP2NM_001110792.1(MECP2): c.509C> T (p.Thr170Met)single nucleotide variantPathogenicrs28934906GRCh37Chr X, 153296806: 153296806
4MECP2MECP2, 1-BP DEL, 806GdeletionPathogenic
5MECP2MECP2, 44-BP DEL, NT1152deletionPathogenic
6MECP2NM_001110792.1(MECP2): c.352C> T (p.Arg118Trp)single nucleotide variantPathogenicrs28934907GRCh37Chr X, 153297719: 153297719
7MECP2NM_001110792.1(MECP2): c.844C> T (p.Arg282Ter)single nucleotide variantPathogenicrs61750240GRCh37Chr X, 153296471: 153296471
8MECP2MECP2, IVS2, A-G, -2single nucleotide variantPathogenic
9MECP2NM_001110792.1(MECP2): c.203_204delCC (p.Pro68Argfs)deletionPathogenicrs267608434GRCh37Chr X, 153297867: 153297868
10MECP2NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter)single nucleotide variantPathogenic, risk factorrs61751362GRCh37Chr X, 153296399: 153296399
11MECP2MECP2, 41-BP DEL, NT1159deletionPathogenic
12MECP2NM_001110792.1(MECP2): c.455C> T (p.Ala152Val)single nucleotide variantPathogenicrs28934908GRCh37Chr X, 153296860: 153296860
13MECP2NM_001110792.1(MECP2): c.952C> T (p.Arg318Cys)single nucleotide variantPathogenicrs28935468GRCh37Chr X, 153296363: 153296363
14MECP2MECP2, 1-BP DEL, 76CdeletionPathogenic
15MECP2MECP2, 14-BP DUP, NT766duplicationPathogenic
16MECP2NM_001110792.1(MECP2): c.538C> T (p.Arg180Ter)single nucleotide variantPathogenicrs61748421GRCh37Chr X, 153296777: 153296777
17MECP2NM_001110792.1(MECP2): c.799C> T (p.Arg267Ter)single nucleotide variantPathogenicrs61749721GRCh37Chr X, 153296516: 153296516
18MECP2NM_001110792.1(MECP2): c.1399G> T (p.Glu467Ter)single nucleotide variantPathogenicrs104894864GRCh37Chr X, 153295916: 153295916
19MECP2NM_001110792.1(MECP2): c.334C> G (p.Leu112Val)single nucleotide variantPathogenicrs28935168GRCh37Chr X, 153297737: 153297737
20MECP2MECP2, 11-BP DEL, EX1deletionPathogenic
21MECP2MECP2, 5-BP DUP, EX1duplicationPathogenic
22MECP2MECP2, 1-BP DEL AND 2-BP INSindelPathogenic
23MECP2MECP2, 2-BP DEL, 488GGdeletionPathogenic
24MECP2NM_001110792.1(MECP2): c.5C> T (p.Ala2Val)single nucleotide variantPathogenicrs179363901GRCh37Chr X, 153363118: 153363118
25MECP2NM_001110792.1(MECP2): c.746delG (p.Gly249Valfs)deletionPathogenicrs61749743GRCh37Chr X, 153296569: 153296569

Expression for genes affiliated with Rett Syndrome, Preserved Speech Variant

About this section
Sources:
2BioGPS, 16Gene 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

About this section

Compounds for genes affiliated with Rett Syndrome, Preserved Speech Variant

About this section

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

About this section

Products for genes affiliated with Rett Syndrome, Preserved Speech Variant

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Rett Syndrome, Preserved Speech Variant

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet