RTT
MCID: RTT002
MIFTS: 77

Rett Syndrome (RTT) malady

Categories: Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Rett Syndrome

Aliases & Descriptions for Rett Syndrome:

Name: Rett Syndrome 54 12 71 50 24 25 51 56 66 13 52 41 42 14 69
Atypical Rett Syndrome 50 56 29
Rett Syndrome Zappella Variant 66 29
Rett Syndrome, Atypical 54 69
Rett Syndrome Variant 50 56
Rett's Disorder 12 25
Rett's Syndrome 25 29
Rett Disorder 25 66
Rts 25 66
Rtt 25 66
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome 25
Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use 50
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use 66
Rett Syndrome, Preserved Speech Variant 54
Rett Syndrome Preserved Speech Variant 66
Cerebroatrophic Hyperammonemia 12
Rett Like Syndrome 50
Atypical Rtt 56

Characteristics:

Orphanet epidemiological data:

56
rett syndrome
Inheritance: X-linked dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Infancy,Neonatal; Age of death: adult;
atypical rett syndrome
Inheritance: Autosomal dominant,X-linked dominant; Age of onset: Infancy,Neonatal; Age of death: any age;

HPO:

32
rett syndrome:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 312750
Disease Ontology 12 DOID:1206
ICD10 33 F84.2
MeSH 42 D015518
NCIt 47 C75488
SNOMED-CT 64 192583003 68618008
Orphanet 56 ORPHA778 ORPHA3095
MESH via Orphanet 43 D015518
UMLS via Orphanet 70 C0035372
ICD10 via Orphanet 34 F84.2
UMLS 69 C0035372

Summaries for Rett Syndrome

NIH Rare Diseases : 50 atypical rett syndrome is a neurodevelopmental disorder that is diagnosed when a child has some of the symptoms of rett syndrome but does not meet all the diagnostic criteria. like the classic form of rett syndrome, atypical rett syndrome mostly affects girls. children with atypical rett syndrome can have symptoms that are either milder or more severe than those seen in rett syndrome. several subtypes of atypical rett syndrome have been defined:the early-onset seizure type is characterized by seizures in the first months of life with later development of rett features (including developmental problems, loss of language skills, and repeated hand wringing or hand washing movements). it is frequently caused by mutations in the x-linked cdkl5 gene (xp22). the congenital variant is the most severe form of atypical rett syndrome, with onset of classic rett features during the first three months of life. this variant is generally caused by mutations in the foxg1 gene (14q11-q13). the forme fruste is a milder variant with onset in early childhood and an incomplete and prolonged course. the late childhood regression form is characterized by a normal head circumference and by a more gradual and later onset (late childhood) regression of language and motor skills. the preserved speech variant is marked by recovery of some verbal and manual skills and is caused in at least some cases by mutations in the mecp2 (xq28) gene, which is also responsible for the majority of cases of classic rett syndrome. diagnosis relies on clinical evaluation using the diagnostic criteria for atypical rett syndrome which was defined by hagberg in 1994. molecular genetic testing may confirm the diagnosis. last updated: 2/12/2013

MalaCards based summary : Rett Syndrome, also known as atypical rett syndrome, is related to encephalopathy, neonatal severe and autism spectrum disorder, and has symptoms including ataxia, seizures and joint stiffness. An important gene associated with Rett Syndrome is MECP2 (Methyl-CpG Binding Protein 2), and among its related pathways/superpathways are Amphetamine addiction and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. The drugs Dextromethorphan and Donepezil have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and testes, and related phenotypes are behavior/neurological and cellular

Disease Ontology : 12 A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.

Genetics Home Reference : 25 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.

OMIM : 54 Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in females. It is characterized by... (312750) more...

MedlinePlus : 41 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 : 51 Rett syndrome is a childhood neurodevelopmental disorder that affects females almost exclusively.  The child generally appears to grow and develop normally, before symptoms begin.  Loss of muscle tone is usually the first symptom. Other early symptoms may include a slowing of development, problems crawling or walking, and diminished eye contact. As the syndrome progresses, a child will lose purposeful use of her hands and the ability to speak. Compulsive hand movements such as wringing and washing follow the loss of functional use of the hands. The inability to perform motor functions is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech.

UniProtKB/Swiss-Prot : 66 Rett syndrome: An X-linked dominant neurodevelopmental disorder, and one of the most common causes of mental retardation in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements, and develop microcephaly, seizures, autism, ataxia, mental retardation and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood.

Wikipedia : 71 Rett syndrome (RTT), originally termed cerebroatrophic hyperammonemia, is a rare genetic postnatal... more...

Related Diseases for Rett Syndrome

Diseases in the Rett Syndrome family:

Rett Syndrome, Congenital Variant

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

(show top 50) (show all 117)
id Related Disease Score Top Affiliating Genes
1 encephalopathy, neonatal severe 30.4 ANKRD31 ATRX BDNF CDKL5 CHAT DLX5
2 autism spectrum disorder 30.1 ATRX BDNF MECP2
3 rett syndrome, congenital variant 12.2
4 classic rett syndrome 11.9
5 rothmund-thomson syndrome 11.7
6 epileptic encephalopathy, early infantile, 2 11.7
7 atypical teratoid rhabdoid tumor 11.7
8 rubinstein-taybi syndrome 11.6
9 pervasive developmental disorder 11.1
10 rhabdoid cancer 11.1
11 cdkl5-related disorder 11.0
12 coffin-lowry syndrome 10.8
13 asperger syndrome 10.8
14 mental retardation, x-linked, syndromic 13 10.8
15 rhabdoid tumors, somatic 10.8
16 neuronitis 10.4
17 coasy-associated neurodegeneration 10.3 FOXG1 MBD4 MECP2 UBE3A
18 leukemia 10.2
19 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 10.2 BDNF TH
20 panhypopituitarism, x-linked 10.2 CDKL5 FOXG1
21 breast cancer 10.2
22 pulmonary hypertension 10.2 CDKL5 FOXG1 MECP2 TH
23 spastic paraplegia 6, autosomal dominant 10.2 CDKL5 MBD4 MECP2 UBE3A
24 epilepsy 10.2
25 kashin-beck disease 10.2 BDNF CHAT TH
26 sexual disorder 10.2 BDNF CDKL5 FOXG1 MECP2 UBE3A
27 alpha thalassemia-x-linked intellectual disability syndrome 10.1 DLX5 DLX6 MECP2 TH
28 scoliosis 10.1
29 prostatitis 10.1
30 myeloid leukemia 10.0
31 melanoma 10.0
32 colorectal cancer 10.0
33 prostate cancer 10.0
34 thyroiditis 10.0
35 sarcoma 10.0
36 hepatitis 10.0
37 gastric cancer 9.9
38 peritonitis 9.9
39 intellectual disability 9.9
40 encephalopathy 9.9
41 squamous cell carcinoma 9.9
42 lymphoma 9.9
43 adenocarcinoma 9.9
44 lung cancer 9.9
45 endotheliitis 9.9
46 influenza 9.9
47 hypoxia 9.9
48 autonomic dysfunction 9.9
49 newcastle disease 9.8
50 pancreatitis 9.8

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



Diseases related to Rett Syndrome

Symptoms & Phenotypes for Rett Syndrome

Symptoms by clinical synopsis from OMIM:

312750

Clinical features from OMIM:

312750

Human phenotypes related to Rett Syndrome:

56 32 (show top 50) (show all 71)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Frequent (79-30%) HP:0001251
2 seizures 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0001250
3 joint stiffness 56 32 Occasional (29-5%) HP:0001387
4 muscle weakness 56 32 Occasional (29-5%) HP:0001324
5 dystonia 56 32 Frequent (79-30%) HP:0001332
6 depression 56 32 Frequent (79-30%) HP:0000716
7 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
8 spasticity 56 32 Frequent (79-30%),Very frequent (99-80%) HP:0001257
9 failure to thrive 56 32 Occasional (29-5%) HP:0001508
10 respiratory insufficiency 56 32 Frequent (79-30%) HP:0002093
11 eeg abnormality 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0002353
12 dysphasia 56 32 Very frequent (99-80%) HP:0002357
13 developmental regression 56 32 Occasional (29-5%),Very frequent (99-80%) HP:0002376
14 tetraplegia 56 32 Occasional (29-5%) HP:0002445
15 scoliosis 56 32 Frequent (79-30%) HP:0002650
16 self-injurious behavior 56 32 Occasional (29-5%) HP:0100716
17 hearing impairment 56 32 Very frequent (99-80%) HP:0000365
18 macrotia 56 32 Occasional (29-5%) HP:0000400
19 hepatomegaly 56 32 Occasional (29-5%) HP:0002240
20 abnormality of the teeth 56 32 Frequent (79-30%) HP:0000164
21 thick vermilion border 56 32 Very frequent (99-80%) HP:0012471
22 microcephaly 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0000252
23 short stature 56 32 Frequent (79-30%) HP:0004322
24 gastroesophageal reflux 56 32 Very frequent (99-80%) HP:0002020
25 stereotypy 56 32 Very frequent (99-80%) HP:0000733
26 decreased muscle mass 56 32 Occasional (29-5%) HP:0003199
27 acrocyanosis 56 32 Occasional (29-5%) HP:0001063
28 intellectual disability, severe 56 32 Very frequent (99-80%) HP:0010864
29 arrhythmia 56 32 Occasional (29-5%) HP:0011675
30 abnormality of movement 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0100022
31 long philtrum 56 32 Very frequent (99-80%) HP:0000343
32 hemiplegia/hemiparesis 56 32 Occasional (29-5%) HP:0004374
33 autism 56 32 Frequent (79-30%) HP:0000717
34 abnormality of the fingernails 56 32 Very frequent (99-80%) HP:0001231
35 ventriculomegaly 56 32 Very frequent (99-80%) HP:0002119
36 cerebral cortical atrophy 56 32 Frequent (79-30%),Very frequent (99-80%) HP:0002120
37 arthrogryposis multiplex congenita 56 32 Occasional (29-5%) HP:0002804
38 aplasia/hypoplasia of the cerebellum 56 32 Very frequent (99-80%) HP:0007360
39 underdeveloped nasal alae 56 32 Very frequent (99-80%) HP:0000430
40 wide mouth 56 32 Very frequent (99-80%) HP:0000154
41 clinodactyly of the 5th finger 56 32 Occasional (29-5%),Very frequent (99-80%) HP:0004209
42 abnormality of the metacarpal bones 56 32 Frequent (79-30%),Very frequent (99-80%) HP:0001163
43 narrow foot 56 32 Occasional (29-5%) HP:0001786
44 apraxia 56 32 Very frequent (99-80%) HP:0002186
45 arnold-chiari malformation 56 32 Occasional (29-5%) HP:0002308
46 abnormality of the antihelix 56 32 Occasional (29-5%) HP:0009738
47 thin fingernail 56 32 Occasional (29-5%) HP:0012742
48 nephrolithiasis 56 32 Very frequent (99-80%) HP:0000787
49 fine hair 56 32 Very frequent (99-80%) HP:0002213
50 camptodactyly of finger 56 32 Very frequent (99-80%) HP:0100490

UMLS symptoms related to Rett Syndrome:


back pain, cachexia, constipation, headache, muscle spasticity, pain, sciatica, seizures, sleep disturbances, syncope, tremor, chronic pain, ataxia, truncal, vertigo/dizziness, gait ataxia, sleeplessness

MGI Mouse Phenotypes related to Rett Syndrome:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.31 ATRX BDNF CDKL5 CHAT DLX5 FOXG1
2 cellular MP:0005384 10.2 ATRX BDNF DLX5 FOXG1 GPM6B HDAC1
3 mortality/aging MP:0010768 10.2 CHAT DLX5 DLX6 FOXG1 GPM6B HDAC1
4 growth/size/body region MP:0005378 10.17 ATRX BDNF CHAT DLX5 DLX6 FOXG1
5 cardiovascular system MP:0005385 10.13 FXYD1 HDAC1 MBD4 MECP2 TH ATRX
6 nervous system MP:0003631 10.1 ATRX BDNF CDKL5 CHAT DLX5 DLX6
7 integument MP:0010771 9.97 BDNF DLX5 DLX6 FOXG1 HDAC1 MECP2
8 hearing/vestibular/ear MP:0005377 9.95 BDNF DLX5 DLX6 FOXG1 GPM6B MECP2
9 respiratory system MP:0005388 9.76 DLX6 FOXG1 HDAC1 MECP2 TH BDNF
10 vision/eye MP:0005391 9.36 ATRX BDNF CDKL5 CHAT FOXG1 GPM6B
11 taste/olfaction MP:0005394 9.35 BDNF CDKL5 DLX5 FOXG1 SYN1

Drugs & Therapeutics for Rett Syndrome

Drugs for Rett Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 70)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dextromethorphan Approved Phase 3,Phase 2 125-71-3 5360696 5362449
2
Donepezil Approved Phase 3 120014-06-4 3152
3
Guaifenesin Approved, Vet_approved Phase 3,Phase 2 93-14-1 3516
4
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
5
Risperidone Approved, Investigational Phase 3 106266-06-2 5073
6 Antitussive Agents Phase 3,Phase 2
7 Chlorpheniramine, phenylpropanolamine drug combination Phase 3,Phase 2
8 Cholinergic Agents Phase 3
9 Cholinesterase Inhibitors Phase 3
10 Excitatory Amino Acid Antagonists Phase 3,Phase 2,Phase 1
11 Excitatory Amino Acids Phase 3,Phase 2,Phase 1
12 Neurotransmitter Agents Phase 3,Phase 2,Phase 1
13 Nootropic Agents Phase 3
14 Respiratory System Agents Phase 3,Phase 2
15 Antipsychotic Agents Phase 3
16 Central Nervous System Depressants Phase 3,Phase 1
17 Dopamine Agents Phase 3
18 Dopamine Antagonists Phase 3
19 Psychotropic Drugs Phase 3,Phase 2
20
Serotonin Phase 3 50-67-9 5202
21 Serotonin Agents Phase 3
22 Serotonin Antagonists Phase 3
23 Tranquilizing Agents Phase 3
24 Glutamic Acid Nutraceutical Phase 3,Phase 2
25
Glatiramer Acetate Approved, Investigational Phase 2,Phase 1 147245-92-9 3081884
26
Zinc Approved Phase 2 7440-66-6 32051 23994
27
Desipramine Approved Phase 2 50-47-5 2995
28
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
29
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
30 tannic acid Approved, Nutraceutical Phase 2
31 Adjuvants, Immunologic Phase 2,Phase 1
32 Antirheumatic Agents Phase 2,Phase 1
33 Immunosuppressive Agents Phase 2,Phase 1
34 Micronutrients Phase 2
35 Trace Elements Phase 2
36 Ubiquinone Phase 2
37 Hypoglycemic Agents Phase 2
38 insulin Phase 2
39 Insulin, Globin Zinc Phase 2
40 Mitogens Phase 2
41 Pharmaceutical Solutions Phase 2
42 Adrenergic Agents Phase 2
43 Antidepressive Agents Phase 2
44 Antidepressive Agents, Tricyclic Phase 2
45 Neurotransmitter Uptake Inhibitors Phase 2
46 Anticholesteremic Agents Phase 2
47 Antimetabolites Phase 2
48 Dihydromevinolin Phase 2
49 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
50 Hypolipidemic Agents Phase 2

Interventional clinical trials:

(show all 41)
id Name Status NCT ID Phase
1 Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome Unknown status NCT00069550 Phase 3
2 A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD) Completed NCT00261508 Phase 3
3 Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms Recruiting NCT02790034 Phase 2, Phase 3
4 Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone) Unknown status NCT02153723 Phase 2
5 Phase 2 Study of EPI-743 for Treatment of Rett Syndrome Completed NCT01822249 Phase 2
6 Treatment of Rett Syndrome With Recombinant Human IGF-1 Completed NCT01777542 Phase 2
7 Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett Syndrome Completed NCT00990691 Phase 2
8 Pharmacological Treatment of Rett Syndrome With Statins Completed NCT02563860 Phase 2
9 Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection) Completed NCT01253317 Phase 1, Phase 2
10 A Safety Study of NNZ-2566 in Patients With Rett Syndrome Completed NCT01703533 Phase 2
11 A Safety Study of NNZ-2566 in Pediatric Rett Syndrome Completed NCT02715115 Phase 2
12 Placebo Controlled Trial of Dextromethorphan in Rett Syndrome Completed NCT01520363 Phase 2
13 Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin Recruiting NCT02696044 Phase 2
14 Study to Assess Safety and Efficacy of Fingolimod in Children With Rett Syndrome Active, not recruiting NCT02061137 Phase 1, Phase 2
15 Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome. Not yet recruiting NCT03059160 Phase 2
16 Trial of Dextromethorphan in Rett Syndrome Terminated NCT00593957 Phase 2
17 An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder Withdrawn NCT02226458 Phase 2
18 An Open Label, Exploratory Study to Investigate the Treatment Effect of Glatiramer Acetate on Girls Woth Rett Syndrome Unknown status NCT02023424 Phase 1
19 An Exploratory Trial of Ketamine for the Treatment of Rett Syndrome Active, not recruiting NCT02562820 Phase 1
20 Effects of Creatine Supplementation in Rett Syndrome Completed NCT01147575
21 Creatine Metabolism in Rett Syndrome Completed NCT01198015
22 Metabolic Evaluation of Nutrition in Rett Syndrome Completed NCT00786071
23 The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome Completed NCT00891956
24 Genetic and Physical Characteristics of Rett Syndrome Completed NCT00299312
25 Functional Abilities in Rett Syndrome Completed NCT00630422
26 New Genes Involved in Molecular Etiology of Rett Syndrome Through DNA Microarray Comparative Genomic Hybridization Completed NCT02885090
27 Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome Completed NCT00004773
28 Nutritional Aspects of Rett Syndrome Completed NCT00004656
29 Study of the Pathogenesis of Rett Syndrome Completed NCT00004807
30 Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW Completed NCT02670694
31 Advanced Grandparental Age as a Risk Factor for Autism Completed NCT00464477
32 Predictors of Caregiver Adaptation to Pervasive Developmental Disorders Completed NCT00496210
33 The Findings of MR Imaging in Rett Syndrome Recruiting NCT02903056
34 Natural History of Rett Syndrome & Related Disorders Recruiting NCT02738281
35 Rare Diseases Clinical Research Network: Neurophysiological Correlates Recruiting NCT03077308
36 Effects of Standing on Non-Ambulatory Children With Neuromuscular Conditions Recruiting NCT02428673
37 Brainstem and Prematurity Recruiting NCT02669056
38 Screening for Studies on Autism Spectrum Disorders Recruiting NCT00271622
39 Osteoporosis in RETT Syndrome Active, not recruiting NCT02110797
40 Biobanking of Rett Syndrome and Related Disorders Not yet recruiting NCT02705677
41 Analysis of the Glutathione Cycle in Children With Rett Syndrome Withdrawn NCT02360436

Search NIH Clinical Center for Rett Syndrome

Cochrane evidence based reviews: rett syndrome

Genetic Tests for Rett Syndrome

Genetic tests related to Rett Syndrome:

id Genetic test Affiliating Genes
1 Rett Syndrome 29 24
2 Atypical Rett Syndrome 29
3 Rett Syndrome, Zappella Variant 29

Anatomical Context for Rett Syndrome

MalaCards organs/tissues related to Rett Syndrome:

39
Brain, Eye, Testes, Bone, Lung, T Cells, Skeletal Muscle

Publications for Rett Syndrome

Articles related to Rett Syndrome:

(show top 50) (show all 860)
id Title Authors Year
1
Cardiovascular Autonomic Dysfunction in Children and Adolescents With Rett Syndrome. ( 28351539 )
2017
2
Novel therapeutic approaches: Rett syndrome and human induced pluripotent stem cell technology. ( 28447035 )
2017
3
The Role of Noncoding RNAs in Neurodevelopmental Disorders: The Case of Rett Syndrome. ( 28523539 )
2017
4
Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome. ( 28399682 )
2017
5
Modeling Rett Syndrome Using TALEN-Edited MECP2 Mutant Cynomolgus Monkeys. ( 28525759 )
2017
6
Use of Clarus Video System(Ar) in expected difficult airway in a patient with Rett syndrome. ( 27887736 )
2017
7
Oxygen exchange and energy metabolism in erythrocytes of Rett syndrome and their relationships with respiratory alterations. ( 28063007 )
2017
8
Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome. ( 27988477 )
2017
9
Development of a Novel AAV Gene Therapy Cassette with Improved Safety Features and Efficacy in a Mouse Model of Rett Syndrome. ( 28497075 )
2017
10
Transcriptome analysis of microglia in a mouse model of Rett syndrome: differential expression of genes associated with microglia/macrophage activation and cellular stress. ( 28367307 )
2017
11
Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype. ( 28394409 )
2017
12
Generation of a clonal induced pluripotent stem cell (iPSC) line expressing the mutant MECP2 allele from a Rett Syndrome patient fibroblast line. ( 28395743 )
2017
13
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. ( 28348241 )
2017
14
Stimulation of the brain serotonin receptor 7 rescues mitochondrial dysfunction in female mice from two models of Rett syndrome. ( 28419872 )
2017
15
Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors. ( 28347601 )
2017
16
Sustained attention in the face of distractors: A study of children with Rett syndrome. ( 28383972 )
2017
17
Ghrelin improves dystonia and tremor in patients with Rett syndrome: A pilot study. ( 28477699 )
2017
18
4-hydroxynonenal protein adducts: Key mediator in Rett syndrome oxinflammation. ( 28063942 )
2017
19
Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome-like phenotypes. ( 28394263 )
2017
20
Rett Syndrome-Current Status and Future Directions. ( 28341519 )
2017
21
Clinical and biological progress over 50 years in Rett syndrome. ( 27934853 )
2017
22
MeCP2, A Modulator of Neuronal Chromatin Organization Involved in Rett Syndrome. ( 28523538 )
2017
23
Proteomic analysis of the Rett syndrome experimental model mecp2(Q63X) mutant zebrafish. ( 28062374 )
2017
24
Early development in Rett syndrome - the benefits and difficulties of a birth cohort approach. ( 28534656 )
2017
25
Effects of chronic exposure to low dose THIP on brainstem neuronal excitability in mouse models of Rett syndrome: Evidence from symptomatic females. ( 28069353 )
2017
26
Mitochondrial Dysfunction in the Pathogenesis of Rett Syndrome: Implications for Mitochondria-Targeted Therapies. ( 28352216 )
2017
27
Phenotypic variability in two infants sharing the same MECP2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome. ( 27379843 )
2017
28
Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study. ( 28465761 )
2017
29
50A years of Rett syndrome, 1966-2016 : From parents to clinicians to scientists, and for parents, clinicians, and scientist. ( 27459870 )
2016
30
Exclusive expression of MeCP2 in the nervous system distinguishes between brain and peripheral Rett syndrome-like phenotypes. ( 27506980 )
2016
31
Prevalence and associated features of depression in women with Rett syndrome. ( 27028200 )
2016
32
A qualitative investigation of recovery after femoral fracture in Rett syndrome. ( 27511284 )
2016
33
Progress in Rett Syndrome: from discovery to clinical trials. ( 27491553 )
2016
34
A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome. ( 27265524 )
2016
35
Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families. ( 27491552 )
2016
36
Eye Gaze Technology as a Form of Augmentative and Alternative Communication for Individuals with Rett Syndrome: Experiences of Families in The Netherlands. ( 27069348 )
2016
37
A Mutant Form of MeCP2 Protein Associated with Human Rett Syndrome Cannot Be Displaced from Methylated DNA by Notch in Xenopus Embryos. ( 27392147 )
2016
38
Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands. ( 27064487 )
2016
39
Longitudinal course of epilepsy in Rett syndrome and related disorders. ( 28007990 )
2016
40
Breathing abnormalities in animal models of Rett syndrome a female neurogenetic disorder. ( 27884797 )
2016
41
Generation and analysis of the Rett syndrome-associated MeCP2- null rat model. ( 27867150 )
2016
42
MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning. ( 26984561 )
2016
43
Effect of Serotonin 1A Agonists and Selective Serotonin Reuptake Inhibitors on Behavioral and Nighttime Respiratory Symptoms in Rett Syndrome. ( 27212420 )
2016
44
Systemic Radical Scavenger Treatment of a Mouse Model of Rett Syndrome: Merits and Limitations of the Vitamin E Derivative Trolox. ( 27895554 )
2016
45
The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome. ( 26647311 )
2016
46
Change over a 16-month period in the psychological well-being of mothers of girls and women with Rett syndrome. ( 27019123 )
2016
47
A Mother's Story: Fighting Rett Syndrome Head On. ( 27002361 )
2016
48
Aspects of Attention in Rett Syndrome. ( 26996403 )
2016
49
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. ( 27541642 )
2016
50
The Incidence and Evolution of Parkinsonian Rigidity in Rett Syndrome: A Pilot Study. ( 27050783 )
2016

Variations for Rett Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Rett Syndrome:

66 (show all 39)
id Symbol AA change Variation ID SNP ID
1 MECP2 p.Arg106Trp VAR_010272 rs28934907
2 MECP2 p.Arg133Cys VAR_010273 rs28934904
3 MECP2 p.Phe155Ser VAR_010274 rs28934905
4 MECP2 p.Thr158Met VAR_010275 rs28934906
5 MECP2 p.Pro101Arg VAR_010276 rs61754453
6 MECP2 p.Leu124Phe VAR_010277 rs61755763
7 MECP2 p.Ser134Cys VAR_010278 rs61748390
8 MECP2 p.Pro152Arg VAR_010280 rs61748404
9 MECP2 p.Arg306Cys VAR_010282 rs28935468
10 MECP2 p.Leu100Val VAR_017462 rs28935168
11 MECP2 p.Glu10Gln VAR_018180 rs61754421
12 MECP2 p.Asp97Tyr VAR_018182 rs61754448
13 MECP2 p.Pro101His VAR_018183 rs61754453
14 MECP2 p.Pro101Leu VAR_018184 rs61754453
15 MECP2 p.Pro101Thr VAR_018185
16 MECP2 p.Arg106Gln VAR_018186 rs61754457
17 MECP2 p.Arg111Gly VAR_018187 rs61754459
18 MECP2 p.Gln128Pro VAR_018188 rs61748383
19 MECP2 p.Arg133His VAR_018189 rs61748389
20 MECP2 p.Lys135Glu VAR_018190 rs61748391
21 MECP2 p.Asp156Gly VAR_018191 rs61748407
22 MECP2 p.Lys210Ile VAR_018197 rs61749730
23 MECP2 p.Pro225Arg VAR_018198 rs61749715
24 MECP2 p.Pro302Ala VAR_018206 rs61751373
25 MECP2 p.Pro302His VAR_018207 rs61749723
26 MECP2 p.Pro302Leu VAR_018208 rs61749723
27 MECP2 p.Pro302Arg VAR_018209 rs61749723
28 MECP2 p.Lys305Arg VAR_018210 rs61751441
29 MECP2 p.Arg306His VAR_018211 rs61751443
30 MECP2 p.Pro322Ala VAR_018212 rs61751449
31 MECP2 p.Pro322Leu VAR_018213 rs61751450
32 MECP2 p.Arg344Trp VAR_018214 rs61752361
33 MECP2 p.Asp97Glu VAR_023552 rs61754449
34 MECP2 p.Leu100Arg VAR_023553 rs61754451
35 MECP2 p.Pro101Ser VAR_023554 rs61754452
36 MECP2 p.Tyr120Asp VAR_023555 rs267608454
37 MECP2 p.Phe155Ile VAR_023556 rs61748406
38 MECP2 p.Thr158Ala VAR_023557 rs61748411
39 MECP2 p.Gly161Val VAR_023558 rs61748417

ClinVar genetic disease variations for Rett Syndrome:

6 (show top 50) (show all 436)
id Gene Variation Type Significance SNP ID Assembly Location
1 CDKL5 NM_003159.2(CDKL5): c.455G> T (p.Cys152Phe) single nucleotide variant Pathogenic rs122460157 GRCh37 Chromosome X, 18600062: 18600062
2 CDKL5 NM_003159.2(CDKL5): c.525A> T (p.Arg175Ser) single nucleotide variant Pathogenic rs61749700 GRCh37 Chromosome X, 18602444: 18602444
3 CDKL5 NM_003159.2(CDKL5): c.2500C> T (p.Gln834Ter) single nucleotide variant Pathogenic rs122460158 GRCh37 Chromosome X, 18646494: 18646494
4 CDKL5 NM_003159.2(CDKL5): c.119C> T (p.Ala40Val) single nucleotide variant Pathogenic rs122460159 GRCh37 Chromosome X, 18582616: 18582616
5 MECP2 MECP2, 44-BP DEL, NT1152 deletion Pathogenic
6 MECP2 MECP2, 1-BP DEL AND 2-BP INS indel Pathogenic
7 MECP2 NM_004992.3(MECP2): c.464T> C (p.Phe155Ser) single nucleotide variant Pathogenic rs28934905 GRCh37 Chromosome X, 153296815: 153296815
8 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh37 Chromosome X, 153296806: 153296806
9 MECP2 MECP2, 1-BP DEL, 806G deletion Pathogenic
10 MECP2 NM_004992.3(MECP2): c.316C> T (p.Arg106Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28934907 GRCh37 Chromosome X, 153297719: 153297719
11 MECP2 NM_004992.3(MECP2): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs61750240 GRCh37 Chromosome X, 153296471: 153296471
12 MECP2 MECP2, IVS2, A-G, -2 single nucleotide variant Pathogenic
13 MECP2 NM_004992.3(MECP2): c.1180G> T (p.Glu394Ter) single nucleotide variant Pathogenic rs63094662 GRCh37 Chromosome X, 153296099: 153296099
14 MECP2 NM_004992.3(MECP2): c.167_168delCC (p.Pro56Argfs) deletion Pathogenic rs267608434 GRCh37 Chromosome X, 153297867: 153297868
15 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh37 Chromosome X, 153296399: 153296399
16 MECP2 MECP2, 5-BP DUP, EX1 duplication Pathogenic
17 MECP2 MECP2, 41-BP DEL, NT1157 deletion Pathogenic,risk factor
18 MECP2 MECP2, 41-BP DEL, NT1159 deletion Pathogenic
19 MECP2 MECP2, 44-BP DEL, NT1159 deletion Pathogenic
20 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh37 Chromosome X, 153296860: 153296860
21 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh37 Chromosome X, 153296363: 153296363
22 MECP2 MECP2, 1-BP DEL, 76C deletion Pathogenic
23 MECP2 MECP2, 14-BP DUP, NT766 duplication Pathogenic
24 MECP2 MECP2, 2-BP DEL, 488GG deletion Pathogenic
25 MECP2 NM_004992.3(MECP2): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs61748421 GRCh37 Chromosome X, 153296777: 153296777
26 MECP2 NM_004992.3(MECP2): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61749721 GRCh37 Chromosome X, 153296516: 153296516
27 MECP2 MECP2, 52-BP DEL deletion Pathogenic
28 MECP2 NM_004992.3(MECP2): c.423C> G (p.Tyr141Ter) single nucleotide variant Pathogenic rs61748396 GRCh37 Chromosome X, 153296856: 153296856
29 MECP2 NM_004992.3(MECP2): c.1363G> T (p.Glu455Ter) single nucleotide variant Pathogenic rs104894864 GRCh37 Chromosome X, 153295916: 153295916
30 MECP2 MECP2, 11-BP DEL, EX1 deletion Pathogenic
31 MECP2 NM_004992.3(MECP2): c.674C> T (p.Pro225Leu) single nucleotide variant Pathogenic rs61749715 GRCh37 Chromosome X, 153296605: 153296605
32 MECP2 NM_004992.3(MECP2): c.964C> T (p.Pro322Ser) single nucleotide variant Pathogenic rs61751449 GRCh37 Chromosome X, 153296315: 153296315
33 MECP2 NM_004992.3(MECP2): c.454C> G (p.Pro152Ala) single nucleotide variant Pathogenic rs179363900 GRCh37 Chromosome X, 153296825: 153296825
34 MECP2 NM_001110792.1(MECP2): c.5C> T (p.Ala2Val) single nucleotide variant Pathogenic/Likely pathogenic rs179363901 GRCh37 Chromosome X, 153363118: 153363118
35 MECP2 NM_004992.3(MECP2): c.710delG (p.Gly237Valfs) deletion Pathogenic rs61749743 GRCh37 Chromosome X, 153296569: 153296569
36 MECP2 NM_004992.3(MECP2): c.574A> T (p.Lys192Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922679 GRCh37 Chromosome X, 153296705: 153296705
37 MECP2 NM_004992.3(MECP2): c.468C> G (p.Asp156Glu) single nucleotide variant Pathogenic rs61748408 GRCh37 Chromosome X, 153296811: 153296811
38 MECP2 NM_004992.3(MECP2): c.611C> G (p.Ser204Ter) single nucleotide variant Pathogenic rs61749724 GRCh37 Chromosome X, 153296668: 153296668
39 MECP2 NM_004992.3(MECP2): c.730C> T (p.Gln244Ter) single nucleotide variant Pathogenic rs61749747 GRCh37 Chromosome X, 153296549: 153296549
40 MECP2 NM_004992.3(MECP2): c.806delG (p.Gly269Alafs) deletion Pathogenic rs61750241 GRCh37 Chromosome X, 153296473: 153296473
41 MECP2 NM_004992.3(MECP2): c.(?_-1)_(26_?)del deletion Pathogenic
42 MECP2 NM_004992.3(MECP2): c.1009_1027del19 (p.Lys337Glyfs) deletion Pathogenic rs267608559 GRCh37 Chromosome X, 153296252: 153296270
43 MECP2 NM_004992.3(MECP2): c.100_103delGATA (p.Asp34Argfs) deletion Pathogenic rs61754428 GRCh37 Chromosome X, 153297932: 153297935
44 MECP2 NM_004992.3(MECP2): c.1029delG (p.Arg344Glyfs) deletion Pathogenic rs61751457 GRCh37 Chromosome X, 153296250: 153296250
45 MECP2 NM_004992.3(MECP2): c.1038C> G (p.Ser346Arg) single nucleotide variant Pathogenic rs61752365 GRCh37 Chromosome X, 153296241: 153296241
46 MECP2 NM_004992.3(MECP2): c.1069_1071delAGC (p.Ser357del) deletion Pathogenic rs267608564 GRCh37 Chromosome X, 153296208: 153296210
47 MECP2 NM_004992.3(MECP2): c.1079C> A (p.Ser360Ter) single nucleotide variant Pathogenic rs61752372 GRCh37 Chromosome X, 153296200: 153296200
48 MECP2 NM_004992.3(MECP2): c.107_108delAA (p.Lys36Argfs) deletion Pathogenic rs267608425 GRCh37 Chromosome X, 153297927: 153297928
49 MECP2 NM_001110792.1(MECP2): c.143_149delAAGAAGA (p.Lys48Argfs) deletion Pathogenic rs267608424 GRCh37 Chromosome X, 153297922: 153297928
50 MECP2 NM_004992.3(MECP2): c.1087A> T (p.Lys363Ter) single nucleotide variant Pathogenic rs61752375 GRCh37 Chromosome X, 153296192: 153296192

Copy number variations for Rett Syndrome from CNVD:

7 (show top 50) (show all 64)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 22472 1 16698906 17124554 Copy number CROCC Rett syndrome
2 22473 1 16698906 17124554 Copy number MSTP9 Rett syndrome
3 22474 1 16698906 17124554 Duplication or delet ion ESPNP Rett syndrome
4 25621 1 192100000 197500000 Copy number CFHR1 Rett syndrome
5 25622 1 192100000 197500000 Copy number CFHR3 Rett syndrome
6 28592 1 223731557 223870819 Duplication ENAH Rett syndrome
7 33645 1 46852126 246794522 Duplication or delet ion OR2T34 Rett syndrome
8 43286 10 46100000 50100000 Copy number GPRIN2 Rett syndrome
9 43406 10 46396163 46568496 Copy number PPYR1 Rett syndrome
10 43589 10 47017598 47161232 Duplication Rett syndrome
11 82557 10 105781035 105835628 Copy number COL17A1 Rett syndrome
12 82558 6 105717459 105777332 Deletion SLK Rett syndrome
13 82938 14 18624383 19484013 Copy number OR4K1 Rett syndrome
14 82939 14 18624383 19484013 Copy number OR4K2 Rett syndrome
15 82940 14 18624383 19484013 Copy number OR4K5 Rett syndrome
16 82941 14 18624383 19484013 Copy number OR4M1 Rett syndrome
17 82942 14 18624383 19484013 Copy number OR4N2 Rett syndrome
18 82943 14 18624383 19484013 Copy number OR4Q3 Rett syndrome
19 82944 14 18624383 19484013 Deletion or duplicat ion OR11H13P Rett syndrome
20 89640 15 18810004 19537035 Deletion Rett syndrome
21 91690 15 32523241 32572315 Deletion Rett syndrome
22 99799 16 28732295 28952218 Copy number ATP2A1 Rett syndrome
23 99800 16 28732295 28952218 Copy number CD19 Rett syndrome
24 99801 16 28732295 28952218 Copy number LAT Rett syndrome
25 99802 16 28732295 28952218 Copy number NFAC2IP Rett syndrome
26 99803 16 28732295 28952218 Copy number RABEP2 Rett syndrome
27 99804 16 28732295 28952218 Copy number SH2B1 Rett syndrome
28 99805 16 28732295 28952218 Copy number SPNS1 Rett syndrome
29 99806 16 28732295 28952218 Copy number TUFM Rett syndrome
30 99807 16 28732295 28952218 Duplication ATXN2L Rett syndrome
31 101278 16 34399543 34539890 Duplication Rett syndrome
32 112972 17 41544224 41706870 Duplication KIAA1267 Rett syndrome
33 144180 2 242514593 242655973 Deletion Rett syndrome
34 144868 2 3060975 3460506 Copy number TTC15 Rett syndrome
35 144869 2 3060975 3460506 Deletion TSSC1 Rett syndrome
36 149541 1 246822753 246823692 Deletion OR2T10 Rett syndrome
37 162851 22 22681995 22712211 Duplication GSTT1 Rett syndrome
38 165049 22 41237731 41287060 Copy number SERHL2 Rett syndrome
39 165050 22 41237731 41287060 Duplication SERHL Rett syndrome
40 166920 3 110116098 110397433 Copy number C3orf66 Rett syndrome
41 166921 3 110116098 110397433 Copy number MORC1 Rett syndrome
42 166922 3 110116098 110397433 Duplication GUCA1C Rett syndrome
43 171208 3 163997228 164101776 Deletion Rett syndrome
44 173833 3 196905767 196942158 Duplication MUC20 Rett syndrome
45 188849 4 69057735 69165814 Duplication or delet ion UGT2B17 Rett syndrome
46 202038 5 763944 848744 Duplication ZDHHC11 Rett syndrome
47 208365 6 168114265 168324002 Copy number C6orf54 Rett syndrome
48 208366 6 168114265 168324002 Copy number FRMD1 Rett syndrome
49 208367 6 168114265 168324002 Copy number KIF25 Rett syndrome
50 208368 6 168114265 168324002 Duplication MLLT4 Rett syndrome

Expression for Rett Syndrome

LifeMap Discovery
Genes differentially expressed in tissues of Rett Syndrome patients vs. healthy controls: 35 (show all 47)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1 EPHB2 EPH receptor B2 Brain + 6.86 0.000
2 SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 Brain + 5.98 0.000
3 CARTPT CART prepropeptide Brain - 5.94 0.000
4 GLRA2 glycine receptor, alpha 2 Brain + 5.44 0.000
5 APOC4 apolipoprotein C-IV Brain - 5.14 0.039
6 FLOT2 flotillin 2 Brain + 5.09 0.017
7 GRIN2C glutamate receptor, ionotropic, N-methyl D-aspartate 2C Brain + 5.02 0.012
8 ACVR2B activin A receptor, type IIB Brain + 4.94 0.000
9 ASMT acetylserotonin O-methyltransferase Brain + 4.78 0.000
10 DCTN5 dynactin 5 (p25) Brain + 4.72 0.000
11 F2RL1 coagulation factor II (thrombin) receptor-like 1 Brain - 4.69 0.004
12 INHBB inhibin, beta B Brain + 4.59 0.028
13 FOLR1 folate receptor 1 (adult) Brain - 4.59 0.006
14 NPRL3 NPR3-like, GATOR1 complex subunit Brain + 4.45 0.044
15 CCDC106 coiled-coil domain containing 106 Brain - 4.43 0.047
16 S100A1 S100 calcium binding protein A1 Brain + 4.30 0.045
17 CCS copper chaperone for superoxide dismutase Brain + 4.29 0.027
18 MKL1 megakaryoblastic leukemia (translocation) 1 Brain + 4.19 0.012
19 ASB4 ankyrin repeat and SOCS box containing 4 Brain + 4.15 0.012
20 CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) Brain + 4.08 0.049
21 SOX11 SRY (sex determining region Y)-box 11 Brain + 3.98 0.000
22 KIFC3 kinesin family member C3 Brain + 3.91 0.017
23 APBA3 amyloid beta (A4) precursor protein-binding, family A, member 3 Brain - 3.87 0.012
24 CCHCR1 coiled-coil alpha-helical rod protein 1 Brain + 3.83 0.026
25 ITGA9 integrin, alpha 9 Brain + 3.82 0.036
26 MYL5 myosin, light chain 5, regulatory Brain + 3.74 0.000
27 KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 Brain + 3.69 0.028
28 SFTPB surfactant protein B Brain - 3.48 0.003
29 XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble Brain + 3.48 0.044
30 HNRNPF heterogeneous nuclear ribonucleoprotein F Brain + 3.47 0.010
31 PPP1R3C protein phosphatase 1, regulatory subunit 3C Brain + 3.45 0.008
32 TBX1 T-box 1 Brain + 3.41 0.008
33 MYCL v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog Brain + 3.39 0.007
34 TRADD TNFRSF1A-associated via death domain Brain + 3.36 0.010
35 NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 Brain - 3.33 0.019
36 PANX1 pannexin 1 Brain + 3.30 0.019
37 ENOSF1 enolase superfamily member 1 Brain + 3.29 0.024
38 MT4 metallothionein 4 Brain - 3.20 0.001
39 FEZ2 fasciculation and elongation protein zeta 2 (zygin II) Brain + 3.17 0.001
40 IFNA5 interferon, alpha 5 Brain + 3.16 0.006
41 CEP57 centrosomal protein 57kDa Brain + 3.13 0.029
42 ZG16 zymogen granule protein 16 Brain + 3.12 0.045
43 ADAM10 ADAM metallopeptidase domain 10 Brain + 3.09 0.039
44 ATP7B ATPase, Cu++ transporting, beta polypeptide Brain + 3.09 0.046
45 ESR1 estrogen receptor 1 Brain + 3.07 0.017
46 ZKSCAN8 zinc finger with KRAB and SCAN domains 8 Brain - 3.07 0.006
47 EGFR epidermal growth factor receptor Brain + 3.03 0.030
Search GEO for disease gene expression data for Rett Syndrome.

Pathways for Rett Syndrome

GO Terms for Rett Syndrome

Cellular components related to Rett Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 8.8 HDAC1 JMJD1C MBD4

Biological processes related to Rett Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 axonogenesis GO:0007409 9.58 DLX5 NTNG1 NTNG2
2 anatomical structure formation involved in morphogenesis GO:0048646 9.37 DLX5 DLX6
3 negative regulation of myotube differentiation GO:0010832 9.32 BDNF HDAC1
4 head development GO:0060322 9.26 DLX5 DLX6
5 neurotransmitter biosynthetic process GO:0042136 9.16 CHAT TH
6 inner ear morphogenesis GO:0042472 9.13 DLX5 DLX6 FOXG1
7 nervous system development GO:0007399 9.1 BDNF DLX5 DLX6 GPM6B NTNG1 NTNG2

Sources for Rett Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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