RTS
MCID: RTT002
MIFTS: 83

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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NIH Rare Diseases:42 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 based summary: Rett Syndrome, also known as autism-dementia-ataxia-loss of purposeful hand use syndrome, is related to developmental disabilities and angelman syndrome, and has symptoms including skull/cranial anomalies, abnormal cry/voice/phonation disorder/nasal speech and abnormal gait. 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:33 Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. it's related to autism spectrum disorder. 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:43

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

Descriptions from OMIM:46 312750,613454

Aliases & Classifications for Rett Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 62UMLS, 57SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Rett Syndrome, Aliases & Descriptions:

Name: Rett Syndrome 8 9 65 42 21 43 46 10 44 48 33 62
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome 65 21 62
Cerebroatrophic Hyperammonemia 8 65 62
Rett's Disorder 8 22 21
Rtt 65 21
 
Rts 65 21
Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use 42
Rett's Syndrome 21
Rett Disorder 21


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:1206
NCIt39 C75488
SNOMED-CT57 192583003, 68618008
MESH via Orphanet35 D015518
ICD10 via Orphanet26 F84.2
UMLS via Orphanet63 C0035372
ICD1025 F84.2

Related Diseases for Rett Syndrome

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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 321)
idRelated DiseaseScoreTop Affiliating Genes
1developmental disabilities30.5MECP2, UBE3A, BDNF
2angelman syndrome30.4MBD4, UBE3A, MECP2
3attention deficit hyperactivity disorder30.4MECP2, BDNF
4microcephaly30.3CDKL5, UBE3A, FOXG1, MECP2
5neuroblastoma30.1BDNF, TH, CHAT
6autistic disorder30.0BDNF, DLX5, MECP2, UBE3A
7sudden infant death syndrome29.7TH, CHAT
8mental retardation29.6MECP2, BDNF, UBE3A, MBD4, TH, OTC
9parkinson's disease29.4BDNF, TH, CHAT
10schizophrenia29.3CHAT, TH, MECP2, BDNF
11brain disease29.2TH, MECP2, MBD4, CDKL5, OTC, CHAT
12atypical rett syndrome10.7
13breast cancer10.7
14neuronitis10.7
15leukemia10.7
16classic rett syndrome10.7
17prostatitis10.6
18melanoma10.5
19prostate cancer10.5
20colorectal cancer10.5
21thyroiditis10.5
22myeloid leukemia10.5
23rett syndrome, congenital variant10.5
24gastric cancer10.4
25hepatitis10.4
26sarcoma10.4
27autism spectrum disorder10.4
28peritonitis10.4
29gait apraxia10.4CDKL5, MECP2
30epileptic encephalopathy, early infantile, 210.4
31infantile epileptic encephalopathy10.4MECP2, CDKL5
32acute myeloid leukemia10.4
33adenocarcinoma10.3
34lung cancer10.3
35acute promyelocytic leukemia10.3
36endotheliitis10.3
37rett syndrome and variant rett syndrome multi-gene panels10.3
38newcastle disease10.3
39rothmund-thomson syndrome10.3
40influenza10.3
41atypical teratoid rhabdoid tumor10.3
42chikungunya10.3
43hepatitis a10.3
44encephalitis10.3
45pancreatitis10.3
46cdkl5-related disorder10.3
47hypoxia10.3
48encephalopathy, neonatal severe10.3
49malaria10.2
50hepatitis e10.2

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



Diseases related to rett syndrome

Symptoms for Rett Syndrome

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Symptoms by clinical synopsis from OMIM:

312750

Clinical features from OMIM:

312750,613454

Symptoms:

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

HPO human phenotypes related to Rett Syndrome:

(show all 55)
id Description Frequency HPO Source Accession
1 stereotypic behavior hallmark (90%) HP:0000733
2 gait disturbance hallmark (90%) HP:0001288
3 abnormality of the voice hallmark (90%) HP:0001608
4 neurological speech impairment hallmark (90%) HP:0002167
5 developmental regression hallmark (90%) HP:0002376
6 cognitive impairment hallmark (90%) HP:0100543
7 abnormality of the eye typical (50%) HP:0000478
8 seizures typical (50%) HP:0001250
9 hypertonia typical (50%) HP:0001276
10 muscle weakness typical (50%) HP:0001324
11 tremor typical (50%) HP:0001337
12 respiratory insufficiency typical (50%) HP:0002093
13 cerebral cortical atrophy typical (50%) HP:0002120
14 incoordination typical (50%) HP:0002311
15 sleep disturbance typical (50%) HP:0002360
16 scoliosis typical (50%) HP:0002650
17 kyphosis typical (50%) HP:0002808
18 microcephaly occasional (7.5%) HP:0000252
19 autism occasional (7.5%) HP:0000717
20 limitation of joint mobility occasional (7.5%) HP:0001376
21 apnea occasional (7.5%) HP:0002104
22 hepatomegaly occasional (7.5%) HP:0002240
23 abnormality of the autonomic nervous system occasional (7.5%) HP:0002270
24 amyotrophy occasional (7.5%) HP:0003202
25 reduced bone mineral density occasional (7.5%) HP:0004349
26 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
27 arrhythmia occasional (7.5%) HP:0011675
28 self-injurious behavior occasional (7.5%) HP:0100716
29 abnormality of the teeth HP:0000164
30 autistic behavior HP:0000729
31 seizures HP:0001250
32 spasticity HP:0001257
33 dystonia HP:0001332
34 x-linked dominant inheritance HP:0001423
35 short foot HP:0001773
36 constipation HP:0002019
37 gastroesophageal reflux HP:0002020
38 gait ataxia HP:0002066
39 truncal ataxia HP:0002078
40 cerebral cortical atrophy HP:0002120
41 intellectual disability, profound HP:0002187
42 motor deterioration HP:0002333
43 eeg abnormality HP:0002353
44 developmental regression HP:0002376
45 scoliosis HP:0002650
46 kyphosis HP:0002808
47 amyotrophy HP:0003202
48 bruxism HP:0003763
49 short stature HP:0004322
50 cachexia HP:0004326
51 intermittent hyperventilation HP:0004879
52 ekg HP:0005135
53 prolonged qtc interval HP:0005184
54 postnatal microcephaly HP:0005484
55 gait apraxia HP:0010521

Drugs & Therapeutics for Rett Syndrome

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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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Genetic tests related to Rett Syndrome:

id Genetic test Affiliating Genes
1 Rett's Disorder22

Anatomical Context for Rett Syndrome

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MalaCards organs/tissues related to Rett Syndrome:

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

Animal Models for Rett Syndrome or affiliated genes

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Publications for Rett Syndrome

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Articles related to Rett Syndrome:

(show top 50)    (show all 704)
idTitleAuthorsYear
1
Paroxysmal alpha activity in rett syndrome: a case report. (25160549)
2014
2
Severe Respiratory Dysrhythmia in Rett Syndrome Treated With Topiramate. (24309241)
2013
3
Mutational analysis of methyl-CpG binding protein 2 (MECP2) gene in Indian cases of Rett syndrome. (23400946)
2013
4
Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. (23696494)
2013
5
Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. (23151060)
2013
6
Investigation of Rett syndrome using pluripotent stem cells. (23744605)
2013
7
Rett syndrome: an eye-tracking study of attention and recognition memory. (23488948)
2013
8
The Rett syndrome protein MeCP2 regulates synaptic scaling. (22262897)
2012
9
Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients. (21940684)
2012
10
Epileptic seizures, movement disorders, and breathing disturbances in Rett syndrome: diagnostic relevance of video-polygraphy. (23103540)
2012
11
Early speech-language development in females with Rett syndrome: focusing on the preserved speech variant. (22348320)
2012
12
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases. (22430159)
2012
13
Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations. (22230884)
2012
14
The management of gastric perforation in a girl with Rett syndrome: report of a case. (20149564)
2011
15
Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations. (21695138)
2011
16
Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome. (22190898)
2011
17
Increased levels of 4HNE-protein plasma adducts in Rett syndrome. (21276437)
2011
18
Longitudinal hand function in Rett syndrome. (20921565)
2011
19
Rett syndrome: exploring the autism link. (21825235)
2011
20
Experimental models of Rett syndrome based on Mecp2 dysfunction. (21239731)
2011
21
'Relabelling the preserved speech variant of Rett syndrome?'. (20002131)
2010
22
Ocular MECP2 protein expression in patients with and without Rett syndrome. (20682201)
2010
23
Reversibility of functional deficits in experimental models of Rett syndrome. (20298210)
2010
24
Disrupted microRNA expression caused by Mecp2 loss in a mouse model of Rett syndrome. (20716963)
2010
25
Suppression of nonsense mutations in Rett syndrome by aminoglycoside antibiotics. (19190538)
2009
26
Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome]. (19573459)
2009
27
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. (19161156)
2009
28
X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype. (18184939)
2008
29
Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type. (18512755)
2008
30
Bone ultrasonography at phalanxes in patients with Rett syndrome: a 3-year longitudinal study. (18242156)
2008
31
Rett syndrome and plasma leptin levels. (17188610)
2007
32
Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome. (15875198)
2006
33
The molecular pathology of Rett syndrome: synopsis and update. (17028371)
2006
34
MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression. (15757975)
2005
35
Molecular diagnosis of Rett syndrome. (16225827)
2005
36
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. (15870826)
2005
37
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. (16077736)
2005
38
Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome. (15857422)
2005
39
Rett syndrome: the complex nature of a monogenic disease. (12750821)
2003
40
DNA methylation and Rett syndrome. (12928486)
2003
41
Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome. (11955928)
2002
42
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. (11214906)
2001
43
Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry. (11532982)
2001
44
Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification. (11592853)
2001
45
Reduced expression of neuropeptides can be related to respiratory disturbances in Rett syndrome. (11738857)
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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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:

6 (show all 32)
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 variantPathogenicrs61751362GRCh37Chr 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
26MECP2NM_001110792.1(MECP2): c.1187C> T (p.Pro396Leu)single nucleotide variantLikely pathogenicrs193922676GRCh37Chr X, 153296128: 153296128
27MECP2NM_001110792.1(MECP2): c.1363G> A (p.Ala455Thr)single nucleotide variantLikely pathogenicrs193922677GRCh37Chr X, 153295952: 153295952
28MECP2NM_001110792.1(MECP2): c.1477G> A (p.Val493Met)single nucleotide variantLikely pathogenicrs193922678GRCh37Chr X, 153295838: 153295838
29MECP2NM_001110792.1(MECP2): c.610A> T (p.Lys204Ter)single nucleotide variantLikely pathogenicrs193922679GRCh37Chr X, 153296705: 153296705
30MECP2NM_001110792.1(MECP2): c.934G> A (p.Val312Ile)single nucleotide variantLikely pathogenicrs61751370GRCh37Chr X, 153296381: 153296381
31MECP2NM_001110792.1(MECP2): c.945C> G (p.Ile315Met)single nucleotide variantLikely pathogenicrs61751439GRCh37Chr X, 153296370: 153296370
32MECP2NM_001110792.1(MECP2): c.968C> T (p.Thr323Met)single nucleotide variantLikely pathogenicrs61751445GRCh37Chr X, 153296347: 153296347

Expression for genes affiliated with Rett Syndrome

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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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Compounds for genes affiliated with Rett Syndrome

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Compounds related to Rett Syndrome according to GeneCards/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
15-methylcytosine44 2411.2MECP2, MBD4
2benzodiazepine449.9UBE3A, CHAT
3ibotenic acid449.9CHAT, TH
43-nitropropionic acid449.7TH, BDNF
5dizocilpine449.7BDNF, CHAT
6dopac449.7TH, BDNF
7mhpg449.7TH, BDNF
8l-amino acid449.7CHAT, TH
9quisqualate44 1110.7CHAT, BDNF
10apomorphine28 44 1111.7CHAT, TH
11maoa449.7BDNF, TH
121 methyl 4 phenylpyridinium449.7BDNF, TH
13pramipexole44 28 50 1112.7BDNF, TH
14quinolinic acid44 2410.6CHAT, BDNF
15heroin44 50 1111.6BDNF, CHAT
16selegiline44 1110.6BDNF, TH
17carbamate449.5OTC, CHAT
18acetyl-l-carnitine449.5CHAT, OTC
19quetiapine44 50 28 24 1113.5BDNF, TH
20desipramine44 50 1111.3BDNF, TH
21homovanillic acid44 2410.2BDNF, CHAT, TH
22methamphetamine44 50 1111.2BDNF, CHAT, TH
236-hydroxydopamine449.2TH, CHAT, BDNF
24risperidone44 50 28 61 24 1114.2CHAT, BDNF
25haloperidol44 50 28 2 1113.2BDNF, CHAT, TH
26kainate44 2810.2TH, CHAT, BDNF
27catecholamine449.2TH, CHAT, BDNF
28cocaine44 1110.2BDNF, CHAT, TH
29choline44 24 1111.2BDNF, CHAT, TH
30zinc44 2410.1MECP2, UBE3A, MBD4, BDNF
31mptp449.0BDNF, TH
32nmda44 2810.0TH, CHAT, BDNF
33alanine449.0UBE3A, MECP2, CHAT, TH
34norepinephrine44 24 1110.9TH, CHAT, BDNF
35testosterone44 61 24 1111.9BDNF, MECP2, CHAT, TH
36acetylcholine44 50 28 24 1112.9BDNF, CHAT, TH
37butyrate448.8OTC, CHAT, TH
38oligonucleotide448.8CHAT, MECP2, MBD4, OTC
39valproate448.7TH, MECP2, BDNF, OTC
40estrogen448.4BDNF, UBE3A, CHAT, TH
41lactate448.4TH, CHAT, BDNF, OTC
42aspartate448.4OTC, BDNF, CHAT, TH
43gaba448.2BDNF, UBE3A, DLX5, MECP2, CHAT, TH
44glutamate448.2OTC, BDNF, MECP2, CHAT, TH

GO Terms for genes affiliated with Rett Syndrome

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Cellular components related to Rett Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synaptic vesicleGO:0080218.9TH, SYN1, BDNF
2cytoplasmGO:0057377.4TH, CHAT, DLX5, UBE3A, MBD4, BDNF
3nucleusGO:0056347.1CDKL5, TH, CHAT, MECP2, FOXG1, MBD4

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

Sources for Rett Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet