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
F(2)-Dihomo-isoprostanes and brain white matter damage in stage 1 Rett syndrome. (23009927)
2013
2
Report of the first case of precocious puberty in Rett syndrome. (23612537)
2013
3
The need for unbiased cognitive assessment in Rett syndrome: is eye tracking the answer? (23488946)
2013
4
Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research. (22474603)
2012
5
Downregulation of CNPase in a MeCP2 deficient mouse model of Rett syndrome. (22334035)
2012
6
MeCP2+/- mouse model of RTT reproduces auditory phenotypes associated with Rett syndrome and replicate select EEG endophenotypes of autism spectrum disorder. (22249109)
2012
7
Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence: new perspective for Rett syndrome. (22357617)
2012
8
Respiratory disturbances in rett syndrome: don't forget to evaluate upper airway obstruction. (22290859)
2012
9
Genome-wide expression studies in autism spectrum disorder, Rett syndrome, and Down syndrome. (21130877)
2012
10
The relationship between serum ghrelin and body composition with bone mineral density and QUS parameters in subjects with Rett syndrome. (22306927)
2012
11
Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome. (22190898)
2011
12
Increased levels of 4HNE-protein plasma adducts in Rett syndrome. (21276437)
2011
13
Spinal deformity and disability in patients with Rett syndrome. (21501153)
2011
14
The protocadherins, PCDHB1 and PCDH7, are regulated by MeCP2 in neuronal cells and brain tissues: implication for pathogenesis of Rett syndrome. (21824415)
2011
15
Reversibility of functional deficits in experimental models of Rett syndrome. (20298210)
2010
16
An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient. (20236119)
2010
17
Epilepsy in Rett syndrome---the experience of a National Rett Center. (20491871)
2010
18
Valproate and risk of fracture in Rett syndrome. (20501539)
2010
19
Early postnatal behavioral changes in the Mecp2-308 truncation mouse model of Rett syndrome. (19958389)
2010
20
Rett syndrome: revised diagnostic criteria and nomenclature. (21154482)
2010
21
Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome]. (19573459)
2009
22
Parental experiences of scoliosis management in Rett syndrome. (19479541)
2009
23
MeCP2 post-translational regulation through PEST domains: two novel hypotheses: potential relevance and implications for Rett syndrome. (19319913)
2009
24
Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice. (19208815)
2009
25
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). (18562141)
2009
26
A case of Rett syndrome with reduced pain sensitivity. (19645986)
2009
27
X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype. (18184939)
2008
28
Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome--Mecp2 gene dosage effects and BDNF expression. (18557922)
2008
29
Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene. (18810657)
2008
30
Disturbances of breathing in Rett syndrome: results from patients and animal models. (18085325)
2008
31
Oral treatment with desipramine improves breathing and life span in Rett syndrome mouse model. (17905670)
2008
32
Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome. (18842453)
2008
33
Sleep problems in Rett syndrome. (17531413)
2007
34
Zinc sulfate could be potential agent for the treatment of Rett syndrome through increasing central BDNF levels. (16962724)
2007
35
Increased plasma leptin levels and valproate use in patients with Rett syndrome. (17889056)
2007
36
The story of Rett syndrome: from clinic to neurobiology. (17988628)
2007
37
The Israeli Rett Syndrome Center. Evaluation and transdisciplinary play-based assessment. (17041719)
2006
38
Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome. (15857422)
2005
39
Association by guilt: identification of DLX5 as a target for MeCP2 provides a molecular link between genomic imprinting and Rett syndrome. (15954098)
2005
40
Rett syndrome. (15791137)
2005
41
Rett syndrome: model of neurodevelopmental disorders. (16225824)
2005
42
p.R270X MECP2 mutation and mortality in Rett syndrome. (16077729)
2005
43
Screening for mutations in the MECP2 (Rett syndrome) gene in Gilles de la Tourette syndrome. (12707062)
2003
44
Neurotrophic factors in the pathogenesis of Rett syndrome. (14649551)
2003
45
Infantile hypotonia as a presentation of Rett syndrome. (12210319)
2002
46
Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. (11262731)
2001
47
Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications. (11768391)
2001
48
Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome. (11106359)
2000
49
A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. (10986043)
2000
50
Evaluation of two X chromosomal candidate genes for Rett syndrome: glutamate dehydrogenase-2 (GLUD2) and rab GDP-dissociation inhibitor (GDI1). (9674910)
1998

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
3glutamate4410.8OTC, NTRK1, CHAT, MECP2
4tlqp 215910.8NGF, NTRK1, BDNF
5ana 125910.8NGF, NTRK1, BDNF
6bdnf (human)5910.8BDNF, NTRK1, NGF
7gnf 58375910.8NGF, NTRK1, BDNF
8cerebrolysin4410.8NGF, MAP2, BDNF
97,8-dihydroxyflavone44 5911.8NGF, NTRK1, BDNF
10propentofylline4410.8NGF, NTRK1, CHAT
11quisqualate44 1111.7MAP2, CHAT, BDNF
12homovanillic acid44 2411.7TH, CHAT, BDNF
135-methylcytosine44 2411.7MBD4, MECP2, DNMT1
14methamphetamine44 49 1112.7BDNF, CHAT, MAP2, TH
156-hydroxydopamine4410.7BDNF, CHAT, NGF, TH, GSR
16kainate44 2811.7BDNF, CHAT, MAP2, TH, GSR
17gnrh4410.7BDNF, NTRK1, TH, GSR
18valproate4410.7BDNF, MECP2, DNMT1, TH, OTC, GSR
19phenylbutyrate4410.7DNMT1, OTC, GSR
20dbc-amp4410.7BDNF, CHAT, MAP2, NGF
21colchicine59 44 2 28 1114.7MAP2, NTRK1, CHAT, BDNF
22cocaine44 1111.7BDNF, CHAT, MAP2, NGF, TH, GSR
23choline44 11 2412.7BDNF, CHAT, NTRK1, MAP2, NGF, TH
24nmda44 2811.6BDNF, CHAT, MAP2, NGF, TH, GSR
25azathioprine44 49 2 1113.6MECP2, MAP2, DNMT1, NGF
26lactate4410.6BDNF, CHAT, NTRK1, MAP2, TH, OTC
27catecholamine4410.6BDNF, CHAT, NTRK1, TH
28valproic acid44 49 11 2413.6BDNF, DNMT1, OTC, GSR
29selegiline44 1111.6TH, NGF, BDNF
30testosterone44 59 11 2413.6BDNF, MECP2, CHAT, NTRK1, MAP2, NGF
31dopamine44 28 11 2413.6BDNF, CHAT, NTRK1, MAP2, NGF, TH
32l-amino acid4410.6CHAT, MAP2, TH
33gaba4410.6GSR, BDNF, UBE3A, GABRB3, MECP2, CHAT
34adenylate4410.6BDNF, NTRK1, MAP2, DNMT1, NGF, TH
35aspartate4410.6BDNF, CHAT, NTRK1, TH, OTC, GSR
36creatinine4410.6BDNF, NTRK1, DNMT1, NGF, OTC, GSR
37k252a4410.6NGF, NTRK1, BDNF
38butyrate4410.6CHAT, NTRK1, DNMT1, TH, OTC
39alanine4410.5UBE3A, MECP2, CHAT, NTRK1, NGF, TH
40cyclic amp44 2411.5BDNF, CHAT, NTRK1, MAP2, NGF, TH
41cycloheximide4410.5BDNF, CHAT, NTRK1, DNMT1, NGF, DLX5
42cipa4410.5NTRK1, NGF
43norepinephrine44 11 2412.5BDNF, CHAT, MAP2, NGF, TH
44idebenone4410.5CHAT, NGF
45acetylcholine44 49 28 11 2414.5BDNF, CHAT, NTRK1, NGF, TH
46retinoic acid44 2411.3BDNF, CHAT, NTRK1, MAP2, DNMT1, NGF
47ag 8794410.3NTRK1, NGF
48pd 98,0594410.3NGF, DNMT1, NTRK1, CHAT, BDNF
49oligonucleotide4410.3MECP2, CHAT, NTRK1, DNMT1, OTC, MBD4
50phosphoinositide4410.0NGF, MAP2, NTRK1, CHAT, BDNF

GO Terms for genes affiliated with Rett Syndrome

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Sources:
16Gene Ontology
See all sources

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
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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