RTS
MCID: RTT002
MIFTS: 82

Rett Syndrome (RTS) malady

Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases, Fetal diseases categories
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Summaries for Rett Syndrome

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls. affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental "plateau," and then rapid regression in language and motor skills. additional signs and symptoms may include repetitive, stereotypic hand movements; fits of screaming and inconsolable crying; autistic features; panic-like attacks; teeth grinding (bruxism); episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. some people have an atypical form of rett syndrome that may be more mild or more severe. classic rett syndrome is most commonly caused by mutations in the mecp2 gene and is usually inherited in an x-linked dominant manner. the vast majority of cases are not inherited from a parent, but are due to a new mutation in the affected person. treatment mainly focuses on the specific signs and symptoms of the condition. last updated: 8/4/2014

MalaCards: Rett Syndrome, also known as rett's disorder, is related to mental retardation and neuroblastoma, and has symptoms including anomalies of eyes and vision, muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy and cardiac rhythm disorder/arrhythmia. An important gene associated with Rett Syndrome is MECP2 (methyl CpG binding protein 2 (Rett syndrome)), and among its related pathways are Transcription factors in neurogenesis and Neurotransmitter Release Cycle. The compounds 5-methylcytosine and benzodiazepine have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and eye, and related mouse phenotypes are taste/olfaction and hearing/vestibular/ear.

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.

MedlinePlus:34 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

NINDS:44

Wikipedia:65 Rett syndrome, originally termed as cerebroatrophic hyperammonemia, is a rare genetic postnatal... more...

Description from OMIM:47 613454,312750

Aliases & Classifications for Rett Syndrome

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65Wikipedia, 21Genetics Home Reference, 8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 62UMLS, 22GTR, 35MeSH, 58SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

49
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 65 43 21 44 47 10 45 49 34 62
rett's disorder 8 22 21
autism-dementia-ataxia-loss of purposeful hand use syndrome 65 21
cerebroatrophic hyperammonemia 8 65
rts 65 21
rtt 65 21
autism, dementia, ataxia, and loss of purposeful hand use 43
rett's syndrome 21
rett disorder 21


External Ids:

Disease Ontology8 DOID:1206
NCIt40 C75488
MESH via Orphanet36 D015518
SNOMED-CT58 68618008, 192583003
ICD10 via Orphanet26 F84.2
SNOMED-CT via Orphanet59 68618008
UMLS via Orphanet63 C0035372
ICD1025 F84.2

Related Diseases for Rett Syndrome

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Sources:
17GeneCards, 18GeneDecks
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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 316)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation30.4TH, MECP2, UBE3A, MBD4, CDKL5, BDNF
2neuroblastoma30.4BDNF, CHAT, TH
3intellectual disability30.3CDKL5, UBE3A, MECP2
4developmental disabilities30.3MECP2, UBE3A, BDNF
5hepatocellular carcinoma30.1OTC, BDNF, MBD4, TH
6angelman syndrome30.1MECP2, UBE3A, MBD4
7attention deficit hyperactivity disorder30.1MECP2, BDNF
8microcephaly30.1CDKL5, UBE3A, FOXG1, MECP2
9autistic disorder30.0MECP2, DLX5, UBE3A, BDNF
10brain disease29.8TH, CHAT, MECP2, MBD4, CDKL5, OTC
11sudden infant death syndrome29.7TH, CHAT
12parkinson's disease29.6TH, CHAT, BDNF
13schizophrenia29.6TH, CHAT, MECP2, BDNF
14atypical rett syndrome10.7
15breast cancer10.7
16neuronitis10.7
17leukemia10.7
18classic rett syndrome10.7
19prostatitis10.5
20melanoma10.5
21prostate cancer10.5
22thyroiditis10.5
23colorectal cancer10.5
24myeloid leukemia10.5
25rett syndrome, congenital variant10.4
26hepatitis10.4
27sarcoma10.4
28autism spectrum disorder10.4
29peritonitis10.4
30epileptic encephalopathy, early infantile, 210.4
31acute myeloid leukemia10.4
32adenocarcinoma10.3
33colon cancer10.3
34lung cancer10.3
35endotheliitis10.3
36rett syndrome and variant rett syndrome multi-gene panels10.3
37influenza10.3
38acute promyelocytic leukemia10.3
39rothmund-thomson syndrome10.3
40newcastle disease10.3
41atypical teratoid rhabdoid tumor10.3
42chikungunya10.3
43hepatitis a10.3
44encephalitis10.3
45cdkl5-related disorder10.3
46hypoxia10.3
47encephalopathy, neonatal severe10.3
48hepatitis e10.2
49malaria10.2
50pancreatitis10.2

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



Diseases related to rett syndrome

Symptoms for Rett Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

312750

Clinical features from OMIM:

613454,312750

Symptoms:

49 (show all 38)
  • anomalies of eyes and vision
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • cardiac rhythm disorder/arrhythmia
  • abnormal cry/voice/phonation disorder/nasal speech
  • x-linked dominant inheritance
  • tics/stereotypias
  • movement disorder
  • respiratory rhythm disorder
  • autism/autistic disoders
  • skull/cranial anomalies
  • dystonia/torticollis/writer's cramp/blepharospasms
  • execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • microcephaly
  • restricted joint mobility/joint stiffness/ankylosis
  • tremor
  • ataxia/incoordination/trouble of the equilibrium
  • abnormal gait
  • apnea/sleep apnea
  • kyphosis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • sleep and vigilance disorders
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hypertonia/spasticity/rigidity/stiffness
  • scoliosis
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • psychic/behavioural troubles
  • hepatomegaly/liver enlargement (excluding storage disease)
  • early death/lethality
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • muscle weakness/flaccidity
  • auto-aggressivity/auto-mutilation
  • psychic/psychomotor regression/dementia/intellectual decline
  • dysautonomia/autonomous nervous sytem anomalies
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy

Drugs & Therapeutics for Rett Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Rett Syndrome

Search NIH Clinical Center for Rett Syndrome

Genetic Tests for Rett Syndrome

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22GTR
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Genetic tests related to Rett Syndrome:

id Genetic test Affiliating Genes
1 Rett's Disorder22

Anatomical Context for Rett Syndrome

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33MalaCards
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MalaCards organs/tissues related to Rett Syndrome:

33
Brain, Bone, Eye, Lung, Liver, Testes, Amygdala, Spinal cord, Cortex, Bone marrow, Placenta

Animal Models for Rett Syndrome or affiliated genes

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37MGI
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Publications for Rett Syndrome

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52PubMed
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Articles related to Rett Syndrome:

(show top 50)    (show all 682)
idTitleAuthorsYear
1
Severe Respiratory Dysrhythmia in Rett Syndrome Treated With Topiramate. (24309241)
2013
2
Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. (23696494)
2013
3
Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. (23151060)
2013
4
Investigation of Rett syndrome using pluripotent stem cells. (23744605)
2013
5
Rett syndrome: an eye-tracking study of attention and recognition memory. (23488948)
2013
6
The Rett syndrome protein MeCP2 regulates synaptic scaling. (22262897)
2012
7
Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients. (21940684)
2012
8
Epileptic seizures, movement disorders, and breathing disturbances in Rett syndrome: diagnostic relevance of video-polygraphy. (23103540)
2012
9
Early speech-language development in females with Rett syndrome: focusing on the preserved speech variant. (22348320)
2012
10
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases. (22430159)
2012
11
Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations. (22230884)
2012
12
Social impairments in Rett syndrome: characteristics and relationship with clinical severity. (21385260)
2012
13
The management of gastric perforation in a girl with Rett syndrome: report of a case. (20149564)
2011
14
Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations. (21695138)
2011
15
Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome. (22190898)
2011
16
Increased levels of 4HNE-protein plasma adducts in Rett syndrome. (21276437)
2011
17
Longitudinal hand function in Rett syndrome. (20921565)
2011
18
Rett syndrome: exploring the autism link. (21825235)
2011
19
Experimental models of Rett syndrome based on Mecp2 dysfunction. (21239731)
2011
20
'Relabelling the preserved speech variant of Rett syndrome?'. (20002131)
2010
21
Ocular MECP2 protein expression in patients with and without Rett syndrome. (20682201)
2010
22
Reversibility of functional deficits in experimental models of Rett syndrome. (20298210)
2010
23
Disrupted microRNA expression caused by Mecp2 loss in a mouse model of Rett syndrome. (20716963)
2010
24
Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome]. (19573459)
2009
25
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. (19161156)
2009
26
MeCP2-mediated transcription repression in the basolateral amygdala may underlie heightened anxiety in a mouse model of Rett syndrome. (19339616)
2009
27
X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype. (18184939)
2008
28
Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type. (18512755)
2008
29
Bone ultrasonography at phalanxes in patients with Rett syndrome: a 3-year longitudinal study. (18242156)
2008
30
Rett syndrome and plasma leptin levels. (17188610)
2007
31
Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome. (15875198)
2006
32
The molecular pathology of Rett syndrome: synopsis and update. (17028371)
2006
33
MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression. (15757975)
2005
34
Molecular diagnosis of Rett syndrome. (16225827)
2005
35
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. (15870826)
2005
36
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. (16077736)
2005
37
Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome. (15857422)
2005
38
Rett syndrome: the complex nature of a monogenic disease. (12750821)
2003
39
DNA methylation and Rett syndrome. (12928486)
2003
40
Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome. (11955928)
2002
41
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. (11214906)
2001
42
Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry. (11532982)
2001
43
Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification. (11592853)
2001
44
Reduced expression of neuropeptides can be related to respiratory disturbances in Rett syndrome. (11738857)
2001
45
Progressive cardiac dysautonomia observed in patients affected by classic Rett syndrome and not in the preserved speech variant. (11392524)
2001
46
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. (11055898)
2000
47
Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. (10852707)
2000
48
Dendritic cytoskeletal protein expression in mental retardation: an immunohistochemical study of the neocortex in Rett syndrome. (11007550)
2000
49
Mutation screening in Rett syndrome patients. (10745042)
2000
50
Bromocriptine in the Rett syndrome. (2360701)
1990

Variations for Rett Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Rett Syndrome:

64 (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:

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

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2BioGPS, 15Gene Expression Omnibus DataSets
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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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50PathCards, 12EMD Millipore, 55Reactome, 38NCBI BioSystems Database, 51PharmGKB, 5Cell Signaling Technology
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Compounds for genes affiliated with Rett Syndrome

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45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 51PharmGKB, 61Tocris Bioscience, 3BitterDB
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Compounds related to Rett Syndrome according to GeneCards/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
15-methylcytosine45 2411.2MECP2, MBD4
2benzodiazepine459.9UBE3A, CHAT
3ibotenic acid459.9CHAT, TH
43-nitropropionic acid459.7TH, BDNF
5dizocilpine459.7BDNF, CHAT
6dopac459.7TH, BDNF
7mhpg459.7TH, BDNF
8l-amino acid459.7CHAT, TH
9quisqualate45 1110.7CHAT, BDNF
10apomorphine29 45 1111.7CHAT, TH
11maoa459.7BDNF, TH
121 methyl 4 phenylpyridinium459.7BDNF, TH
13pramipexole45 29 51 1112.7BDNF, TH
14quinolinic acid45 2410.6CHAT, BDNF
15heroin45 51 1111.6BDNF, CHAT
16selegiline45 1110.6BDNF, TH
17carbamate459.5OTC, CHAT
18acetyl-l-carnitine459.5CHAT, OTC
19quetiapine45 51 29 24 1113.5BDNF, TH
20desipramine45 51 1111.3BDNF, TH
21homovanillic acid45 2410.2BDNF, CHAT, TH
22methamphetamine45 51 1111.2BDNF, CHAT, TH
236-hydroxydopamine459.2TH, CHAT, BDNF
24risperidone45 51 29 61 24 1114.2CHAT, BDNF
25haloperidol45 51 29 3 1113.2BDNF, CHAT, TH
26kainate45 2910.2TH, CHAT, BDNF
27catecholamine459.2TH, CHAT, BDNF
28cocaine45 1110.2BDNF, CHAT, TH
29choline45 24 1111.2BDNF, CHAT, TH
30zinc45 2410.1MECP2, UBE3A, MBD4, BDNF
31mptp459.0BDNF, TH
32nmda45 2910.0TH, CHAT, BDNF
33alanine459.0UBE3A, MECP2, CHAT, TH
34norepinephrine45 24 1110.9TH, CHAT, BDNF
35testosterone45 61 24 1111.9BDNF, MECP2, CHAT, TH
36acetylcholine45 51 29 24 1112.9BDNF, CHAT, TH
37butyrate458.8OTC, CHAT, TH
38oligonucleotide458.8CHAT, MECP2, MBD4, OTC
39valproate458.7TH, MECP2, BDNF, OTC
40estrogen458.4BDNF, UBE3A, CHAT, TH
41lactate458.4TH, CHAT, BDNF, OTC
42aspartate458.4OTC, BDNF, CHAT, TH
43gaba458.2BDNF, UBE3A, DLX5, MECP2, CHAT, TH
44glutamate458.2OTC, BDNF, MECP2, CHAT, TH

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:0080218.9BDNF, SYN1, TH
2cytoplasmGO:0057377.4CHAT, DLX5, UBE3A, MBD4, CDKL5, BDNF
3nucleusGO:0056347.1TH, CHAT, MECP2, FOXG1, DLX6, UBE3A

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1anatomical structure formation involved in morphogenesisGO:0486469.9DLX5, DLX6
2regulation of excitatory postsynaptic membrane potentialGO:0600799.8MECP2, BDNF
3positive regulation of synapse assemblyGO:0519659.8MECP2, BDNF
4social behaviorGO:0351769.8MECP2, TH
5behavioral fear responseGO:0016629.7MECP2, BDNF
6neurotransmitter biosynthetic processGO:0421369.7TH, CHAT
7positive regulation of epithelial cell proliferationGO:0506799.6DLX5, DLX6
8inner ear morphogenesisGO:0424729.6DLX5, DLX6, FOXG1
9embryonic limb morphogenesisGO:0303269.5DLX5, DLX6
10dendrite developmentGO:0163589.4BDNF, MECP2, CHAT
11neurotransmitter secretionGO:0072699.3SYN1, CHAT
12response to hypoxiaGO:0016669.3BDNF, MECP2, TH
13response to zinc ionGO:0100439.2OTC, TH
14nervous system developmentGO:0073999.0DLX6, DLX5, BDNF

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

idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:0165979.1OTC, TH

Products for genes affiliated with Rett Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Rett Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet