MCID: RTT002
MIFTS: 82

Rett Syndrome

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

Aliases & Classifications for Rett Syndrome

MalaCards integrated aliases for Rett Syndrome:

Name: Rett Syndrome 53 12 72 72 49 24 50 55 71 36 28 13 51 40 41 14 69
Atypical Rett Syndrome 49 55 28
Rts 53 24 71
Rtt 53 24 71
Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use 53 49
Rett Syndrome, Atypical 53 69
Rett Syndrome Variant 49 55
Rett's Disorder 12 24
Rett Disorder 24 71
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome 24
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use 71
Rett Syndrome, Preserved Speech Variant 53
Rett Syndrome Preserved Speech Variant 71
Rett Syndrome, Zappella Variant 28
Cerebroatrophic Hyperammonemia 12
Rett Syndrome Zappella Variant 71
Rett Like Syndrome 49
Rett's Syndrome 24
Atypical Rtt 55

Characteristics:

Orphanet epidemiological data:

55
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;

OMIM:

53
Miscellaneous:
most cases are sporadic
prevalence 1/10,000-1/15,000 female births
initially normal for first 6-18 months which is then followed by withdrawal and regression
four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year)
stage ii, rapid developmental regression (onset 1-4 years)
stage iii, pseudostationary period (onset 2-10 years)
stage iv, late motor deterioration (when ambulation ceases)
de novo mutations occur almost exclusively on the paternally derived x chromosome

Inheritance:
x-linked dominant


HPO:

31
rett syndrome:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Rett Syndrome

NIH Rare Diseases : 49 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 autism and angelman syndrome, 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 Chromatin Regulation / Acetylation and DNA Damage/Telomere Stress Induced Senescence. 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 mortality/aging

OMIM : 53 Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in females. It is characterized by arrested development between 6 and 18 months of age, regression of acquired skills, loss of speech, stereotypic movements (classically of the hands), microcephaly, seizures, and mental retardation. Rarely, classically affected males with somatic mosaicism or an extra X chromosome have been described (Moog et al., 2003). (312750)

UniProtKB/Swiss-Prot : 71 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.

MedlinePlus : 40 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 : 50 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.

Genetics Home Reference : 24 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.

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.

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 150)
# Related Disease Score Top Affiliating Genes
1 autism 30.8 BDNF CDKL5 MBD4 MECP2 TH UBE3A
2 angelman syndrome 30.2 CDKL5 MBD4 MECP2 UBE3A
3 pervasive developmental disorder 30.2 BDNF CDKL5 FOXG1 MECP2 UBE3A
4 rett syndrome, congenital variant 12.3
5 epileptic encephalopathy, early infantile, 2 12.0
6 rothmund-thomson syndrome 11.9
7 atypical teratoid rhabdoid tumor 11.3
8 rhabdoid tumor predisposition syndrome 1 11.2
9 chromosome 16p13.3 deletion syndrome, proximal 11.2
10 rapadilino syndrome 11.2
11 rhabdoid cancer 11.2
12 encephalopathy, neonatal severe, due to mecp2 mutations 11.1
13 cdkl5-related disorder 11.1
14 dengue disease 10.9
15 congenital toxoplasmosis 10.9
16 mental retardation, x-linked, syndromic 13 10.9
17 coffin-lowry syndrome 10.9
18 asperger syndrome 10.9
19 childhood apraxia of speech 10.9
20 christianson syndrome 10.6 CDKL5 FOXG1
21 seizure disorder 10.5 CDKL5 MECP2 UBE3A
22 specific developmental disorder 10.5 BDNF CDKL5 MECP2
23 gait apraxia 10.5 CDKL5 MECP2
24 ocular dominance 10.4 BDNF CHAT CREB1
25 neuronitis 10.4
26 amnestic disorder 10.4 BDNF CHAT CREB1
27 neonatal hypoxic and ischemic brain injury 10.4 BDNF TH
28 west syndrome 10.4 CDKL5 FOXG1 MECP2 TH
29 leukemia 10.3
30 tendinosis 10.3 BDNF CHAT TH
31 epilepsy 10.3
32 huntington disease 10.3 BDNF CHAT CREB1 NCOR1
33 mood disorder 10.2 BDNF CREB1 TH
34 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 10.2 DLX5 DLX6
35 scoliosis 10.2
36 aging 10.1
37 prostatitis 10.1
38 breast cancer 10.1
39 myeloid leukemia 10.1
40 melanoma 10.1
41 colorectal cancer 10.1
42 sarcoma 10.1
43 episodic pain syndrome, familial, 1 10.1
44 autism spectrum disorder 10.1
45 hepatitis 10.1
46 thyroiditis 10.1
47 gastric cancer 10.0
48 nervous system disease 10.0 BDNF CHAT TH
49 prostate cancer 10.0
50 encephalopathy 10.0

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



Diseases related to Rett Syndrome

Symptoms & Phenotypes for Rett Syndrome

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
constipation
gastroesophageal reflux

Neurologic Central Nervous System:
seizures
dystonia
gait ataxia
spasticity
truncal ataxia
more
Skeletal Spine:
scoliosis
kyphosis

Growth Height:
short stature

Head And Neck Teeth:
bruxism

Skeletal Feet:
small feet
cold feet
vasomotor disturbance

Growth Weight:
cachexia

Neurologic Behavioral Psychiatric Manifestations:
sleep disturbance
bruxism
breath holding
autistic behaviors
hand stereotypies (e.g., hand wringing)

Head And Neck Head:
microcephaly
normal birth head circumference
deceleration of head growth

Cardiovascular Heart:
prolonged qtc interval
t-wave abnormalities

Muscle Soft Tissue:
muscle wasting

Respiratory:
periodic apnea while awake
intermittent hyperventilation
breath holding


Clinical features from OMIM:

312750

Human phenotypes related to Rett Syndrome:

55 31 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
2 seizures 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001250
3 joint stiffness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001387
4 muscle weakness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001324
5 dystonia 55 31 frequent (33%) Frequent (79-30%) HP:0001332
6 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
7 spasticity 55 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001257
8 failure to thrive 55 31 occasional (7.5%) Occasional (29-5%) HP:0001508
9 respiratory insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0002093
10 eeg abnormality 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002353
11 dysphasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002357
12 developmental regression 55 31 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0002376
13 tetraplegia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002445
14 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
15 self-injurious behavior 55 31 occasional (7.5%) Occasional (29-5%) HP:0100716
16 hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000365
17 macrotia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000400
18 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
19 abnormality of the dentition 55 31 frequent (33%) Frequent (79-30%) HP:0000164
20 thick vermilion border 55 31 hallmark (90%) Very frequent (99-80%) HP:0012471
21 microcephaly 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000252
22 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
23 gastroesophageal reflux 55 31 hallmark (90%) Very frequent (99-80%) HP:0002020
24 stereotypy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000733
25 decreased muscle mass 55 31 occasional (7.5%) Occasional (29-5%) HP:0003199
26 acrocyanosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001063
27 intellectual disability, severe 55 31 hallmark (90%) Very frequent (99-80%) HP:0010864
28 arrhythmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0011675
29 abnormality of movement 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100022
30 long philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000343
31 hemiplegia/hemiparesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0004374
32 autism 55 31 frequent (33%) Frequent (79-30%) HP:0000717
33 abnormality of the fingernails 55 31 hallmark (90%) Very frequent (99-80%) HP:0001231
34 ventriculomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002119
35 cerebral cortical atrophy 55 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0002120
36 arthrogryposis multiplex congenita 55 31 occasional (7.5%) Occasional (29-5%) HP:0002804
37 aplasia/hypoplasia of the cerebellum 55 31 hallmark (90%) Very frequent (99-80%) HP:0007360
38 underdeveloped nasal alae 55 31 hallmark (90%) Very frequent (99-80%) HP:0000430
39 wide mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000154
40 clinodactyly of the 5th finger 55 31 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0004209
41 abnormality of the metacarpal bones 55 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001163
42 narrow foot 55 31 occasional (7.5%) Occasional (29-5%) HP:0001786
43 apraxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002186
44 arnold-chiari malformation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002308
45 abnormality of the antihelix 55 31 occasional (7.5%) Occasional (29-5%) HP:0009738
46 thin fingernail 55 31 occasional (7.5%) Occasional (29-5%) HP:0012742
47 nephrolithiasis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000787
48 fine hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002213
49 camptodactyly of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0100490
50 wide nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0000445

UMLS symptoms related to Rett Syndrome:


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

MGI Mouse Phenotypes related to Rett Syndrome:

43 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.37 BDNF CDKL5 CHAT CREB1 DLX5 FOXG1
2 mortality/aging MP:0010768 10.36 UBE3A BDNF CHAT CREB1 DLX5 DLX6
3 growth/size/body region MP:0005378 10.32 CREB1 DLX5 DLX6 FOXG1 GABBR2 HDAC1
4 cellular MP:0005384 10.31 MEF2C NCOR1 TH UBE3A MBD4 MECP2
5 cardiovascular system MP:0005385 10.25 CHAT CREB1 DLX5 FOXG1 HDAC1 MBD4
6 nervous system MP:0003631 10.24 BDNF CDKL5 CHAT CREB1 DLX5 DLX6
7 embryo MP:0005380 10.16 CREB1 DLX5 DLX6 FOXG1 HDAC1 MBD4
8 integument MP:0010771 10.16 FOXG1 GABBR2 HDAC1 MECP2 NCOR1 TH
9 endocrine/exocrine gland MP:0005379 10.15 FOXG1 HDAC1 JMJD1C MECP2 NCOR1 TH
10 craniofacial MP:0005382 10.13 BDNF DLX5 DLX6 FOXG1 HDAC1 MBD4
11 normal MP:0002873 9.96 BDNF CHAT CREB1 DLX5 FOXG1 HDAC1
12 muscle MP:0005369 9.95 CHAT CREB1 DLX5 FOXG1 HDAC1 MEF2C
13 no phenotypic analysis MP:0003012 9.87 BDNF CDKL5 HDAC1 MECP2 NCOR1 TH
14 respiratory system MP:0005388 9.85 BDNF CHAT CREB1 DLX5 DLX6 FOXG1
15 vision/eye MP:0005391 9.28 HDAC1 JMJD1C MBD4 MECP2 TH BDNF
16 taste/olfaction MP:0005394 9.26 BDNF CDKL5 DLX5 FOXG1

Drugs & Therapeutics for Rett Syndrome

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

(show top 50) (show all 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dextromethorphan Approved Phase 3,Phase 2 125-71-3 5362449 5360696
2
Donepezil Approved Phase 3 120014-06-4 3152
3
Guaifenesin Approved, Investigational, 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
Glutamic Acid Approved, Nutraceutical Phase 3,Phase 2 56-86-0 33032
7 Antitussive Agents Phase 3,Phase 2
8 Chlorpheniramine, phenylpropanolamine drug combination Phase 3,Phase 2
9 Cholinergic Agents Phase 3
10 Cholinesterase Inhibitors Phase 3
11 Excitatory Amino Acid Antagonists Phase 3,Phase 2,Phase 1
12 Excitatory Amino Acids Phase 3,Phase 2,Phase 1
13 Neurotransmitter Agents Phase 3,Phase 2,Phase 1
14 Nootropic Agents Phase 3
15 Respiratory System Agents Phase 3,Phase 2
16 Antipsychotic Agents Phase 3
17 Central Nervous System Depressants Phase 3,Phase 1
18 Dopamine Agents Phase 3
19 Dopamine Antagonists Phase 3
20 Psychotropic Drugs Phase 3,Phase 2
21
Serotonin Phase 3 50-67-9 5202
22 Serotonin Agents Phase 3
23 Serotonin Antagonists Phase 3
24 Tranquilizing Agents Phase 3
25
Glatiramer Acetate Approved, Investigational Phase 2,Phase 1 147245-92-9 3081884
26
Zinc Approved, Investigational Phase 2 7440-66-6 32051 23994
27
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
28
Desipramine Approved, Investigational Phase 2 50-47-5 2995
29
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
30 Strawberry Approved, Nutraceutical Phase 2
31 tannic acid Approved, Nutraceutical Phase 2
32 Adjuvants, Immunologic Phase 2,Phase 1
33 Antirheumatic Agents Phase 2,Phase 1
34 Immunosuppressive Agents Phase 2,Phase 1
35 Micronutrients Phase 2
36 Trace Elements Phase 2
37 Ubiquinone Phase 2
38 Hypoglycemic Agents Phase 2
39 insulin Phase 2
40 Insulin, Globin Zinc Phase 2
41 Mitogens Phase 2
42 Pharmaceutical Solutions Phase 2
43 Anticholesteremic Agents Phase 2
44 Antimetabolites Phase 2
45 Dihydromevinolin Phase 2
46 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
47 Hypolipidemic Agents Phase 2
48 L 647318 Phase 2
49 Lipid Regulating Agents Phase 2
50 Adrenergic Agents Phase 2

Interventional clinical trials:

(show all 45)

# Name Status NCT ID Phase Drugs
1 Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome Unknown status NCT00069550 Phase 3 dextromethorphan;donepezil hydrochloride
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 risperidone
3 Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms Recruiting NCT02790034 Phase 2, Phase 3 Sarizotan;Placebo
4 Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone) Unknown status NCT02153723 Phase 2 Glatiramer Acetate
5 Phase 2 Study of EPI-743 for Treatment of Rett Syndrome Completed NCT01822249 Phase 2 EPI-743
6 Treatment of Rett Syndrome With Recombinant Human IGF-1 Completed NCT01777542 Phase 2 Recombinant Human Insulin Growth Factor 1 (rhIGF-1);Placebo
7 Pharmacological Treatment of Rett Syndrome With Statins Completed NCT02563860 Phase 2 Lovastatin
8 Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett Syndrome Completed NCT00990691 Phase 2 Administration of a high dose of desipramine;Administration of a low dose of desipramine;Administration of a placebo
9 A Safety Study of NNZ-2566 in Pediatric Rett Syndrome Completed NCT02715115 Phase 2 NNZ-2566;Placebo
10 A Safety Study of NNZ-2566 in Patients With Rett Syndrome Completed NCT01703533 Phase 2 NNZ-2566;Placebo
11 Placebo Controlled Trial of Dextromethorphan in Rett Syndrome Completed NCT01520363 Phase 2 dextromethorphan;placebo
12 Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin Recruiting NCT02696044 Phase 2 triheptanoin
13 Study to Assess Safety and Efficacy of Fingolimod in Children With Rett Syndrome Active, not recruiting NCT02061137 Phase 1, Phase 2 fingolimod (FTY720)
14 Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome. Not yet recruiting NCT03059160 Phase 2 Tridecanoic Acid
15 Trial of Dextromethorphan in Rett Syndrome Terminated NCT00593957 Phase 2 Dextromethorphan;Dextromethorphan
16 An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder Withdrawn NCT02226458 Phase 2 EPI-743
17 An Open Label, Exploratory Study to Investigate the Treatment Effect of Glatiramer Acetate on Girls Woth Rett Syndrome Unknown status NCT02023424 Phase 1 Glatiramer Acetate (Copaxone®)
18 Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection) Completed NCT01253317 Phase 1 rhIGF-1
19 An Exploratory Trial of Ketamine for the Treatment of Rett Syndrome Terminated NCT02562820 Phase 1
20 Creatine Metabolism in Rett Syndrome Completed NCT01198015
21 Effects of Creatine Supplementation in Rett Syndrome Completed NCT01147575
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 Functional Abilities in Rett Syndrome Completed NCT00630422
25 New Genes Involved in Molecular Etiology of Rett Syndrome Through DNA Microarray Comparative Genomic Hybridization Completed NCT02885090
26 Genetic and Physical Characteristics of Rett Syndrome Completed NCT00299312
27 Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW Completed NCT02670694
28 Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome Completed NCT00004773
29 Nutritional Aspects of Rett Syndrome Completed NCT00004656
30 Study of the Pathogenesis of Rett Syndrome Completed NCT00004807 dextromethorphan;topiramate;Donepezil
31 Advanced Grandparental Age as a Risk Factor for Autism Completed NCT00464477
32 Efficacy of Zoledronic Acid in Osteoporosis of Children With Multiple Disabilities Completed NCT03301285 Zoledronic Acid
33 Predictors of Caregiver Adaptation to Pervasive Developmental Disorders Completed NCT00496210
34 The Findings of MR Imaging in Rett Syndrome Recruiting NCT02903056
35 Natural History of Rett Syndrome & Related Disorders Recruiting NCT02738281
36 Biobanking of Rett Syndrome and Related Disorders Recruiting NCT02705677
37 Development of a Behavioral Outcome Measure for Rett Syndrome (RettBe) Recruiting NCT03196323
38 Rare Diseases Clinical Research Network: Neurophysiological Correlates Recruiting NCT03077308
39 The Role of Probiotics PS128 in Movement Disorders Recruiting NCT03259971
40 Studies in Patients With Tuberous Sclerosis Complex Recruiting NCT03276195
41 Brainstem and Prematurity Recruiting NCT02669056
42 Screening for Studies on Autism Spectrum Disorders Recruiting NCT00271622
43 Osteoporosis in RETT Syndrome Active, not recruiting NCT02110797
44 Effects of Standing on Non-Ambulatory Children With Neuromuscular Conditions Active, not recruiting NCT02428673
45 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:

# Genetic test Affiliating Genes
1 Rett Syndrome 28 MECP2
2 Atypical Rett Syndrome 28
3 Rett Syndrome, Zappella Variant 28

Anatomical Context for Rett Syndrome

MalaCards organs/tissues related to Rett Syndrome:

38
Brain, Eye, Testes, Bone, Lung, T Cells, Skeletal Muscle

Publications for Rett Syndrome

Articles related to Rett Syndrome:

(show top 50) (show all 904)
# Title Authors Year
1
Skin injuries and joint contractures of the upper extremities in Rett syndrome. ( 29214702 )
2018
2
A mixed modality approach towards Xi reactivation for Rett syndrome and other X-linked disorders. ( 29282321 )
2018
3
First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation. ( 29421650 )
2018
4
Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial. ( 29321033 )
2018
5
Correction: D-cycloserine improves synaptic transmission in an animal mode of Rett syndrome. ( 29370281 )
2018
6
Rett syndrome: a neurological disorder with metabolic components. ( 29445033 )
2018
7
Astrocytic modulation of excitatory synaptic signaling in a mouse model of Rett syndrome. ( 29313799 )
2018
8
An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A. ( 29366381 )
2018
9
Monogenic disorders that mimic the phenotype of Rett syndrome. ( 29322350 )
2018
10
A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation. ( 29341476 )
2018
11
Tyr120Asp mutation alters domain flexibility and dynamics of MeCP2 DNA binding domain leading to impaired DNA interaction: Atomistic characterization of a Rett syndrome causing mutation. ( 29428602 )
2018
12
Correction to: Dendrimer-mediated delivery of N-acetyl cysteine to microglia in a mouse model of Rett syndrome. ( 29329583 )
2018
13
Cognitive function in Rett syndrome: Profoundly impaired or near normal? ( 29332766 )
2018
14
Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls. ( 29428920 )
2018
15
Lactonase Activity and Lipoprotein-Phospholipase A<sub>2</sub>as Possible Novel Serum Biomarkers for the Differential Diagnosis of Autism Spectrum Disorders and Rett Syndrome: Results from a Pilot Study. ( 29317982 )
2017
16
Novel therapeutic approaches: Rett syndrome and human induced pluripotent stem cell technology. ( 28447035 )
2017
17
Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. ( 28838622 )
2017
18
Generation of a clonal induced pluripotent stem cell (iPSC) line expressing the mutant MECP2 allele from a Rett Syndrome patient fibroblast line. ( 28395743 )
2017
19
Early development in Rett syndrome - the benefits and difficulties of a birth cohort approach. ( 28534656 )
2017
20
The BDNF val-66-met Polymorphism Affects Neuronal Morphology and Synaptic Transmission in Cultured Hippocampal Neurons from Rett Syndrome Mice. ( 28751857 )
2017
21
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. ( 28348241 )
2017
22
Cardiovascular Autonomic Dysfunction in Children and Adolescents With Rett Syndrome. ( 28351539 )
2017
23
Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome. ( 28920956 )
2017
24
Modeling Rett Syndrome Using TALEN-Edited MECP2 Mutant Cynomolgus Monkeys. ( 28525759 )
2017
25
Neurological disorders: Reversing Rett syndrome. ( 28935912 )
2017
26
Clinical and biological progress over 50 years in Rett syndrome. ( 27934853 )
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
MeCP2, A Modulator of Neuronal Chromatin Organization Involved in Rett Syndrome. ( 28523538 )
2017
29
The Role of Noncoding RNAs in Neurodevelopmental Disorders: The Case of Rett Syndrome. ( 28523539 )
2017
30
Elimination of medically intractable epileptic drop attacks following endoscopic total corpus callosotomy in Rett syndrome. ( 28815309 )
2017
31
Stimulation of the brain serotonin receptor 7 rescues mitochondrial dysfunction in female mice from two models of Rett syndrome. ( 28419872 )
2017
32
4-hydroxynonenal protein adducts: Key mediator in Rett syndrome oxinflammation. ( 28063942 )
2017
33
Use of Clarus Video System(Ar) in expected difficult airway in a patient with Rett syndrome. ( 27887736 )
2017
34
D-cycloserine improves synaptic transmission in an animal mode of Rett syndrome. ( 28813484 )
2017
35
Effects of chronic exposure to low dose THIP on brainstem neuronal excitability in mouse models of Rett syndrome: Evidence from symptomatic females. ( 28069353 )
2017
36
Oxygen exchange and energy metabolism in erythrocytes of Rett syndrome and their relationships with respiratory alterations. ( 28063007 )
2017
37
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. ( 28856709 )
2017
38
Motor, Somatosensory, Viscerosensory and Metabolic Impairments in a Heterozygous Female Rat Model of Rett Syndrome. ( 29286317 )
2017
39
Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation. ( 28781028 )
2017
40
Ghrelin improves dystonia and tremor in patients with Rett syndrome: A pilot study. ( 28477699 )
2017
41
Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome. ( 27988477 )
2017
42
Recent endeavors in MECP2 gene transfer for gene therapy of Rett syndrome. ( 29272692 )
2017
43
Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation. ( 28851325 )
2017
44
Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study. ( 28465761 )
2017
45
Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype. ( 28394409 )
2017
46
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
47
Initial Observations of Salivary Brain-Derived Neurotrophic Factor Levels in Rett Syndrome. ( 29373156 )
2017
48
mGlu7 potentiation rescues cognitive, social, and respiratory phenotypes in a mouse model of Rett syndrome. ( 28814546 )
2017
49
Randomized open-label trial of dextromethorphan in Rett syndrome. ( 28931647 )
2017
50
Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors. ( 28347601 )
2017

Variations for Rett Syndrome

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

71 (show all 39)
# 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 441)
# 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 NM_004992.3(MECP2): c.464T> C (p.Phe155Ser) single nucleotide variant Pathogenic rs28934905 GRCh37 Chromosome X, 153296815: 153296815
6 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh37 Chromosome X, 153296806: 153296806
7 MECP2 MECP2, 1-BP DEL, 806G deletion Pathogenic
8 MECP2 MECP2, 44-BP DEL, NT1152 deletion Pathogenic
9 MECP2 NM_004992.3(MECP2): c.316C> T (p.Arg106Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28934907 GRCh37 Chromosome X, 153297719: 153297719
10 MECP2 NM_004992.3(MECP2): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs61750240 GRCh37 Chromosome X, 153296471: 153296471
11 MECP2 MECP2, IVS2, A-G, -2 single nucleotide variant Pathogenic
12 MECP2 NM_004992.3(MECP2): c.1180G> T (p.Glu394Ter) single nucleotide variant Pathogenic rs63094662 GRCh37 Chromosome X, 153296099: 153296099
13 MECP2 NM_004992.3(MECP2): c.167_168delCC (p.Pro56Argfs) deletion Pathogenic rs267608434 GRCh37 Chromosome X, 153297867: 153297868
14 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh37 Chromosome X, 153296399: 153296399
15 MECP2 MECP2, 41-BP DEL, NT1157 deletion Pathogenic,risk factor
16 MECP2 MECP2, 41-BP DEL, NT1159 deletion Pathogenic
17 MECP2 MECP2, 44-BP DEL, NT1159 deletion Pathogenic
18 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh37 Chromosome X, 153296860: 153296860
19 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh37 Chromosome X, 153296363: 153296363
20 MECP2 MECP2, 1-BP DEL, 76C deletion Pathogenic
21 MECP2 MECP2, 14-BP DUP, NT766 duplication Pathogenic
22 MECP2 NM_004992.3(MECP2): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs61748421 GRCh37 Chromosome X, 153296777: 153296777
23 MECP2 NM_004992.3(MECP2): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61749721 GRCh37 Chromosome X, 153296516: 153296516
24 MECP2 MECP2, 52-BP DEL deletion Pathogenic
25 MECP2 NM_004992.3(MECP2): c.423C> G (p.Tyr141Ter) single nucleotide variant Pathogenic rs61748396 GRCh37 Chromosome X, 153296856: 153296856
26 MECP2 NM_004992.3(MECP2): c.1363G> T (p.Glu455Ter) single nucleotide variant Pathogenic rs104894864 GRCh37 Chromosome X, 153295916: 153295916
27 MECP2 MECP2, 11-BP DEL, EX1 deletion Pathogenic
28 MECP2 MECP2, 5-BP DUP, EX1 duplication Pathogenic
29 MECP2 MECP2, 1-BP DEL AND 2-BP INS indel Pathogenic
30 MECP2 MECP2, 2-BP DEL, 488GG 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 GRCh38 Chromosome X, 154032481: 154032484
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)
# 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)
# 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

Pathways related to Rett Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1 12.25 HDAC1 MECP2 NCOR1 SIN3A
2
Show member pathways
12.16 FOXG1 HDAC1 NCOR1 SIN3A
4 12.07 HDAC1 JMJD1C MEF2C NCOR1 SIN3A
5 11.92 BDNF CDKL5 CREB1 MEF2C
6 11.91 BDNF CHAT CREB1 HDAC1 MECP2 MEF2C
7 11.81 HDAC1 NCOR1 SIN3A
8
Show member pathways
11.8 BDNF CREB1 HDAC1 TH
9 11.61 CREB1 HDAC1 NCOR1 SIN3A UBE3A
10 11.6 BDNF CHAT TH
11 11.49 HDAC1 SIN3A UBE3A
12 11.47 HDAC1 NCOR1 SIN3A
13
Show member pathways
11.39 HDAC1 MECP2 NCOR1 SIN3A
14 11.32 CREB1 FOXG1 HDAC1 MEF2C NCOR1 SIN3A
15 11.11 BDNF CREB1 DLX5 DLX6 HDAC1 MECP2
16 10.88 CREB1 TH
17 10.7 BDNF CREB1
18 10.62 CHAT TH

GO Terms for Rett Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.86 CDKL5 CHAT CREB1 DLX5 DLX6 FOXG1
2 nuclear chromatin GO:0000790 9.56 CREB1 DLX5 HDAC1 NCOR1
3 chromatin GO:0000785 9.46 HDAC1 JMJD1C MBD4 SIN3A
4 Sin3 complex GO:0016580 8.8 HDAC1 NCOR1 SIN3A

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.95 CREB1 DLX5 HDAC1 MECP2 MEF2C
2 nervous system development GO:0007399 9.91 BDNF DLX5 DLX6 MEF2C NTNG1
3 regulation of transcription, DNA-templated GO:0006355 9.85 CREB1 DLX5 DLX6 FOXG1 HDAC1 JMJD1C
4 axonogenesis GO:0007409 9.73 CREB1 DLX5 NTNG1
5 negative regulation of gene expression GO:0010629 9.67 CREB1 HDAC1 MECP2 MEF2C
6 palate development GO:0060021 9.58 DLX5 DLX6 MEF2C
7 anatomical structure formation involved in morphogenesis GO:0048646 9.54 DLX5 DLX6
8 negative regulation of myotube differentiation GO:0010832 9.52 BDNF HDAC1
9 memory GO:0007613 9.5 CREB1 MECP2 TH
10 head development GO:0060322 9.49 DLX5 DLX6
11 neurotransmitter biosynthetic process GO:0042136 9.46 CHAT TH
12 protein deacetylation GO:0006476 9.43 HDAC1 SIN3A
13 regulation of megakaryocyte differentiation GO:0045652 9.43 HDAC1 MEF2C SIN3A
14 negative regulation of neuron apoptotic process GO:0043524 9.26 BDNF HDAC1 MECP2 MEF2C
15 rhythmic process GO:0048511 8.92 CREB1 HDAC1 SIN3A UBE3A
16 transcription, DNA-templated GO:0006351 10.13 CREB1 DLX5 FOXG1 HDAC1 JMJD1C MECP2

Molecular functions related to Rett Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.88 CREB1 DLX5 DLX6 FOXG1 MEF2C
2 transcription factor binding GO:0008134 9.8 CREB1 HDAC1 MECP2 SIN3A
3 DNA binding transcription factor activity GO:0003700 9.7 CREB1 DLX6 FOXG1 HDAC1 MECP2 MEF2C
4 histone deacetylase binding GO:0042826 9.61 HDAC1 MEF2C NCOR1
5 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.5 CREB1 HDAC1 MEF2C
6 HMG box domain binding GO:0071837 9.46 DLX5 MEF2C
7 transcription regulatory region sequence-specific DNA binding GO:0000976 9.43 HDAC1 JMJD1C SIN3A
8 protein deacetylase activity GO:0033558 9.4 HDAC1 SIN3A
9 RNA polymerase II activating transcription factor binding GO:0001102 9.13 CREB1 NCOR1 SIN3A
10 transcription regulatory region DNA binding GO:0044212 9.02 CREB1 DLX5 HDAC1 MEF2C NCOR1
11 DNA binding GO:0003677 10.02 CREB1 DLX5 DLX6 FOXG1 MBD4 MECP2

Sources for Rett Syndrome

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