RTS
MCID: RTT002
MIFTS: 85

Rett Syndrome (RTS) malady

Neuronal diseases category

Summaries for Rett Syndrome

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Sources:
8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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MedlinePlus:33 Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. it's related to autism. babies with rett syndrome seem to grow and develop normally at first. between 3 months and 3 years of age, though, they stop developing and even lose some skills. symptoms include loss of speech loss of hand movements such as grasping compulsive movements such as hand wringing balance problems breathing problems behavior problems learning problems or intellectual disability rett syndrome has no cure. you can treat some of the symptoms with medicines, surgery, and physical and speech therapy. most people with rett syndrome live into middle age and beyond. they will usually need care throughout their lives. nih: national institute of child health and human development

MalaCards: Rett Syndrome, also known as rett's disorder, is related to breast cancer and leukemia, and has symptoms including restricted joint mobility/joint stiffness/ankylosis, thin/hypoplastic/hyperconvex fingernails and clinodactyly of fifth finger. An important gene associated with Rett Syndrome is MECP2 (methyl CpG binding protein 2 (Rett syndrome)), and among its related pathways are Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) and NGF-independant TRKA activation. The compounds acetyl-l-carnitine and estrogen have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and lung, and related mouse phenotypes are taste/olfaction and integument.

Disease Ontology:8 A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused by a mutation on the mecp2 gene on the x chromosome. infants with rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities.

Genetics Home Reference:21 Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and have a small head size (microcephaly). Other signs and symptoms that can develop include breathing abnormalities, seizures, an abnormal side-to-side curvature of the spine (scoliosis), and sleep disturbances.

NIH Rare Diseases:42 Rett syndrome is a childhood disorder characterized by normal early development followed by loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, abnormal walk (gait), seizures, and mental retardation. it affects females almost exclusively. last updated: 12/8/2011

NINDS:43

Wikipedia:63 Rett syndrome, originally termed as cerebroatrophic hyperammonemia, is a neurodevelopmental disorder of... more...

Description from OMIM:46 312750,613454

Aliases & Classifications for Rett Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
rett syndrome:
Inheritance: X-linked dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Adult


Aliases & Descriptions:

rett syndrome 8 9 63 42 21 43 46 10 44 48 33 60
rett's disorder 8 22 21
autism-dementia-ataxia-loss of purposeful hand use syndrome 63 21
cerebroatrophic hyperammonemia 8 63
rtt 63 21
rts 63 21
autism, dementia, ataxia, and loss of purposeful hand use 42
rett's syndrome 21
rett disorder 21


External Ids:

Disease Ontology8 DOID:1206
NCIt39 C75488
MESH via Orphanet35 D015518
SNOMED-CT56 68618008, 192583003
ICD10 via Orphanet26 F84.2
SNOMED-CT via Orphanet57 68618008
UMLS via Orphanet61 C0035372
ICD1025 F84.2

Related Diseases for Rett Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Rett Syndrome family:

Rett Syndrome, Congenital Variant

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

(show top 50)    (show all 321)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer31.0UBE3A, MBD4, MECP2, NTRK1, DNMT1, TH
2leukemia31.0MECP2, CHAT, NTRK1, DNMT1, NGF, OTC
3epilepsy syndrome30.8BDNF, UBE3A, GABRB3, MECP2, MAP2, NGF
4melanoma30.7DNMT1, MAP2, NTRK1
5adenocarcinoma30.4DNMT1, NTRK1, MECP2, BDNF
6colon cancer30.4UBE3A, MBD4, NTRK1, DNMT1, NGF
7neuroblastoma30.3BDNF, CHAT, NTRK1, NGF, TH
8hepatocellular carcinoma30.2BDNF, MBD4, DNMT1, TH, OTC
9down syndrome30.2CHAT, MECP2
10intellectual disability30.2UBE3A, MECP2, CDKL5
11autistic disorder30.2BDNF, UBE3A, GABRB3, MECP2, DLX5
12developmental disabilities30.2MECP2, UBE3A, BDNF
13attention deficit hyperactivity disorder30.0BDNF
14angelman syndrome30.0UBE3A, MBD4, GABRB3, MECP2
15brain disease30.0MBD4, MECP2, CHAT, CDKL5, TH, OTC
16microcephaly30.0UBE3A, FOXG1, MECP2, CDKL5
17atopic dermatitis29.9NGF
18multiple sclerosis29.8BDNF, MAP2, NGF, GSR
19ischemia29.8BDNF, CHAT, NTRK1, MAP2, TH, GSR
20parkinson's disease29.6BDNF, NGF, TH
21alzheimer's disease29.6BDNF, CHAT, NTRK1, MAP2, NGF, TH
22schizophrenia29.6BDNF, MECP2, CHAT, NTRK1, MAP2, DNMT1
23sudden infant death syndrome29.6CHAT, TH
24neuronitis10.7
25atypical rett syndrome10.6
26acute leukemia10.5
27prostatitis10.5
28prostate cancer10.4
29lymph node cancer10.4
30thyroiditis10.4
31rett syndrome, congenital variant10.4
32myeloid leukemia10.4
33colorectal cancer10.4
34hepatitis10.4
35autism spectrum disorder10.4
36sarcoma10.4
37peritonitis10.4
38epileptic encephalopathy, early infantile, 210.3
39acute myeloid leukemia10.3
40squamous cell carcinoma10.3
41rett syndrome and variant rett syndrome multi-gene panels10.3
42hepatitis a10.3
43lung cancer10.3
44influenza10.3
45newcastle disease10.2
46rothmund-thomson syndrome10.2
47atypical teratoid rhabdoid tumor10.2
48adult syndrome10.2
49image syndrome10.2
50mecp2 duplication syndrome10.2

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



Diseases related to rett syndrome

Clinical Features for Rett Syndrome

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Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

312750,613454

Clinical synopsis from OMIM:

312750

Symptoms:

48 (show all 18)
  • restricted joint mobility/joint stiffness/ankylosis
  • thin/hypoplastic/hyperconvex fingernails
  • clinodactyly of fifth finger
  • antihelix anomaly
  • long/large ear
  • movement disorder
  • seizures/epilepsy/absences/spasms/status epilepticus
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/psychomotor regression/dementia/intellectual decline
  • psychic/behavioural troubles
  • x-linked dominant inheritance
  • metacarpal anomalies/archibald's sign
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • hypertonia/spasticity/rigidity/stiffness
  • short stature/dwarfism/nanism
  • microcephaly

Drugs & Therapeutics for Rett Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Rett Syndrome

Drug clinical trials:

Search ClinicalTrials for Rett Syndrome

Search NIH Clinical Center for Rett Syndrome

Search CenterWatch for Rett Syndrome

Genetic Tests for Rett Syndrome

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Sources:
22GTR
See all sources

Genetic tests related to Rett Syndrome:

id Genetic test Affiliating Genes
1 Rett's Disorder22

Anatomical Context for Rett Syndrome

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Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Rett Syndrome:

32
Brain, Bone, Lung, Eye, Amygdala, Testes, Cortex, Spinal cord, Placenta, Bone marrow

Animal Models for Rett Syndrome or affiliated genes

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Sources:
36MGI
See all sources

Publications for Rett Syndrome

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Sources:
50PubMed
See all sources

Articles related to Rett Syndrome:

(show top 50)    (show all 692)
idTitleAuthorsYear
1
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. (24399845)
2014
2
BDNF deregulation in Rett syndrome. (23597512)
2014
3
Rett syndrome and epilepsy: an update for child neurologists. (23583050)
2013
4
Aging in Rett syndrome: a longitudinal study. (23167724)
2013
5
A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome. (23892605)
2013
6
The Rett syndrome protein MeCP2 regulates synaptic scaling. (22262897)
2012
7
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases. (22430159)
2012
8
Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations. (22230884)
2012
9
Social impairments in Rett syndrome: characteristics and relationship with clinical severity. (21385260)
2012
10
IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients. (22934177)
2012
11
Preclinical research in Rett syndrome: setting the foundation for translational success. (23115203)
2012
12
Growth failure and outcome in Rett syndrome: specific growth references. (23035069)
2012
13
7,8-dihydroxyflavone exhibits therapeutic efficacy in a mouse model of Rett syndrome. (22194327)
2012
14
Early intervention with psychostimulants or antidepressants to increase methyl-CpG-binding protein 2 (MeCP2) expressions: a potential therapy for Rett syndrome. (22207122)
2012
15
Peripheral administration of brain-derived neurotrophic factor to Rett syndrome animal model: a possible approach for the treatment of Rett syndrome. (22847207)
2012
16
Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation. (21954873)
2012
17
Rett syndrome: exploring the autism link. (21825235)
2011
18
DXA measurements in Rett syndrome reveal small bones with low bone mass. (21590733)
2011
19
Glatiramer acetate (GA, Copolymer-1) an hypothetical treatment option for Rett syndrome. (20951500)
2011
20
Does microglial dysfunction play a role in autism and Rett syndrome? (22717189)
2011
21
Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice. (21764336)
2011
22
Trends in the diagnosis of Rett syndrome in Australia. (21587099)
2011
23
The disruption of central CO2 chemosensitivity in a mouse model of Rett syndrome. (21307341)
2011
24
Reflex seizures in Rett syndrome. (22258043)
2011
25
A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. (21074045)
2010
26
APOE epsilon4: a potential modulation factor in Rett syndrome. (20139413)
2010
27
Suppression of nonsense mutations in Rett syndrome by aminoglycoside antibiotics. (19190538)
2009
28
Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions. (19386901)
2009
29
A study of the treatment of Rett syndrome with folate and betaine. (19225139)
2009
30
Nutritional factors in a mouse model of Rett syndrome. (18479749)
2009
31
Myoclonic status misdiagnosed as movement disorders in Rett syndrome: a video-polygraphic study. (19336260)
2009
32
Rett syndrome in adults with severe intellectual disability: exploration of behavioral characteristics. (18207372)
2008
33
Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndrome. (18306326)
2008
34
Homozygosity for MECP2 gene in a girl with classical Rett syndrome. (17881312)
2007
35
Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. (16905679)
2007
36
MECP2 deletions and genotype-phenotype correlation in Rett syndrome. (17968969)
2007
37
Postnatal dietary choline supplementation alters behavior in a mouse model of Rett syndrome. (17395475)
2007
38
Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized. (16708070)
2006
39
MeCP2 dysfunction in Rett syndrome and related disorders. (16647848)
2006
40
The MECP2 gene mutation screening in Rett syndrome patients from Croatia. (17341617)
2006
41
X-Chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain. (15115765)
2004
42
Rett syndrome: the complex nature of a monogenic disease. (12750821)
2003
43
Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. (12966522)
2003
44
Rett syndrome and MeCP2: linking epigenetics and neuronal function. (12442230)
2002
45
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. (11738883)
2001
46
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. (11245712)
2001
47
Clinical, neurophysiological and immunological correlations in classical Rett syndrome. (11738854)
2001
48
MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern. (11313756)
2001
49
Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. (10944854)
2000
50
Lymphocyte function in autism and Rett syndrome. (8127418)
1994

Genetic Variations for Rett Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Rett Syndrome:

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

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

Search GEO for disease gene expression data for Rett Syndrome.

Pathways for genes affiliated with Rett Syndrome

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Sources:
49PharmGKB, 53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 4Cell Signaling Technology
See all sources

Compounds for genes affiliated with Rett Syndrome

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Sources:
44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR, 2BitterDB
See all sources

Compounds related to Rett Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 85)
idCompoundScoreTop Affiliating Genes
1acetyl-l-carnitine4410.8OTC
2estrogen4410.8MAP2, CHAT
3glutamate4410.8NTRK1, CHAT, MECP2, OTC
4gnf 58375910.8NGF, NTRK1, BDNF
5bdnf (human)5910.8BDNF, NGF, NTRK1
6tlqp 215910.8NGF, BDNF, NTRK1
7ana 125910.8NGF, NTRK1, BDNF
87,8-dihydroxyflavone44 5911.8NTRK1, NGF, BDNF
9cerebrolysin4410.8BDNF, MAP2, NGF
10propentofylline4410.8CHAT, NGF, NTRK1
11quisqualate44 1111.7MAP2, CHAT, BDNF
12homovanillic acid44 2411.7TH, BDNF, CHAT
135-methylcytosine44 2411.7MBD4, DNMT1, MECP2
14methamphetamine44 49 1112.7TH, MAP2, CHAT, BDNF
156-hydroxydopamine4410.7TH, BDNF, NGF, CHAT, GSR
16kainate44 2811.7GSR, TH, MAP2, BDNF, CHAT
17gnrh4410.7BDNF, NTRK1, GSR, TH
18valproate4410.7BDNF, DNMT1, TH, OTC, GSR, MECP2
19phenylbutyrate4410.7OTC, DNMT1, GSR
20dbc-amp4410.7BDNF, CHAT, MAP2, NGF
21colchicine59 44 2 28 1114.7NTRK1, BDNF, MAP2, CHAT
22cocaine44 1111.7GSR, TH, NGF, MAP2, CHAT, BDNF
23choline44 11 2412.7NTRK1, MAP2, NGF, TH, BDNF, CHAT
24nmda44 2811.6TH, BDNF, CHAT, MAP2, NGF, GSR
25azathioprine44 49 2 1113.6MAP2, DNMT1, MECP2, NGF
26lactate4410.6NTRK1, CHAT, MAP2, TH, OTC, GSR
27catecholamine4410.6CHAT, NTRK1, BDNF, TH
28valproic acid44 49 11 2413.6BDNF, DNMT1, OTC, GSR
29selegiline44 1111.6NGF, BDNF, TH
30testosterone44 59 11 2413.6MECP2, MAP2, NGF, TH, NTRK1, CHAT
31dopamine44 28 11 2413.6NGF, NTRK1, MAP2, CHAT, TH, BDNF
32l-amino acid4410.6CHAT, MAP2, TH
33gaba4410.6DLX5, BDNF, GABRB3, UBE3A, TH, GSR
34adenylate4410.6TH, GSR, NGF, DNMT1, MAP2, NTRK1
35aspartate4410.6NTRK1, GSR, OTC, TH, CHAT, BDNF
36creatinine4410.6NGF, OTC, DNMT1, NTRK1, GSR, BDNF
37k252a4410.6BDNF, NTRK1, NGF
38butyrate4410.6TH, CHAT, OTC, NTRK1, DNMT1
39alanine4410.5CHAT, TH, NGF, NTRK1, MECP2, UBE3A
40cyclic amp44 2411.5TH, MAP2, BDNF, CHAT, NGF, NTRK1
41cycloheximide4410.5NGF, BDNF, CHAT, NTRK1, DNMT1, DLX5
42cipa4410.5NTRK1, NGF
43norepinephrine44 11 2412.5CHAT, NGF, MAP2, TH, BDNF
44idebenone4410.5CHAT, NGF
45acetylcholine44 49 28 11 2414.5CHAT, BDNF, NTRK1, TH, NGF
46retinoic acid44 2411.3CHAT, DNMT1, TH, MAP2, NGF, BDNF
47ag 8794410.3NTRK1, NGF
48pd 98,0594410.3NGF, BDNF, CHAT, NTRK1, DNMT1
49oligonucleotide4410.3MECP2, NTRK1, DNMT1, CHAT, OTC, MBD4
50phosphoinositide4410.0NTRK1, CHAT, BDNF, MAP2, NGF

GO Terms for genes affiliated with Rett Syndrome

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16Gene Ontology
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Cellular components related to Rett Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synaptic vesicleGO:00802110.4TH, SYN1, BDNF

Biological processes related to Rett Syndrome according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1response to electrical stimulusGO:05160210.6TH, NGF, NTRK1
2response to radiationGO:00931410.6MBD4, NTRK1, NGF
3dendrite developmentGO:01635810.6CHAT, MECP2, BDNF
4negative regulation of neuron apoptotic processGO:04352410.5NGF, NTRK1, MECP2, BDNF
5cellular response to nicotineGO:07131610.5NTRK1, TH
6mechanoreceptor differentiationGO:04249010.5NTRK1, BDNF
7inner ear morphogenesisGO:04247210.5DLX5, DLX6, FOXG1
8anatomical structure formation involved in morphogenesisGO:04864610.4DLX6, DLX5
9central nervous system neuron developmentGO:02195410.4MAP2, FOXG1
10response to nutrient levelsGO:03166710.3TH, NTRK1
11neurotransmitter biosynthetic processGO:04213610.1TH, CHAT

Molecular functions related to Rett Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1methyl-CpG bindingGO:00832710.4DNMT1, MECP2

Products for genes affiliated with Rett Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Rett Syndrome

About this section
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