RTT
MCID: RTT002
MIFTS: 79

Rett Syndrome (RTT)

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

Aliases & Classifications for Rett Syndrome

MalaCards integrated aliases for Rett Syndrome:

Name: Rett Syndrome 57 12 74 20 43 53 58 73 36 29 13 54 6 42 44 15 39 71 32
Atypical Rett Syndrome 20 58 29 6
Rtt 57 43 73
Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use 57 20
Rett Syndrome, Preserved Speech Variant 57 29
Rett Syndrome, Atypical 57 71
Rett Syndrome Variant 20 58
Rett's Disorder 12 43
Rett Disorder 43 73
Rts 57 73
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome 43
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use 73
Rett Syndrome Preserved Speech Variant 73
Rett Syndrome, Zappella Variant 6
Cerebroatrophic Hyperammonemia 12
Rett Syndrome Zappella Variant 73
Rett Like Syndrome 20
Rett's Syndrome 43
Atypical Rtt 58

Characteristics:

Orphanet epidemiological data:

58
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®:

57 (Updated 05-Mar-2021)
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: 58  
Rare neurological diseases


Summaries for Rett Syndrome

GARD : 20 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.

MalaCards based summary : Rett Syndrome, also known as atypical rett syndrome, is related to chromosome 16p13.3 deletion syndrome, proximal and pervasive developmental disorder, and has symptoms including seizures, tremor and constipation. An important gene associated with Rett Syndrome is MECP2 (Methyl-CpG Binding Protein 2), and among its related pathways/superpathways are Neuroscience and Chromatin Regulation / Acetylation. The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related phenotypes are eeg abnormality and sleep disturbance

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.

MedlinePlus Genetics : 43 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 about three-quarters have a small head size (microcephaly). Other signs and symptoms that can develop include breathing abnormalities, spitting or drooling, unusual eye movements such as intense staring or excessive blinking, cold hands and feet, irritability, sleep disturbances, seizures, and an abnormal side-to-side curvature of the spine (scoliosis).Researchers have described several variant or atypical forms of Rett syndrome, which can be milder or more severe than the classic form.Rett syndrome is part of a spectrum of disorders with the same genetic cause. Other disorders on the spectrum include PPM-X syndrome, MECP2 duplication syndrome, and MECP2-related severe neonatal encephalopathy. These other conditions can affect males.

OMIM® : 57 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) (Updated 05-Mar-2021)

MedlinePlus : 42 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 : 53 Rett syndrome is a rare childhood neurological and developmental disorder that almost exclusively affects females. Infants appear to develop normally for the first several months before development stalls (typically between the ages of 6-18 months). Early symptoms include: • loss of muscle tone • slowing of development • difficulty feeding • jerkiness in arm and leg movement • reduced eye contact and eye gaze. The child then begins to lose or have regression of previously gained skills, including: • the ability to socialize and speak • purposeful use of the hands • the ability to walk. Other symptoms may include: • slowed growth • seizures • intellectual disabilities • problems with breathing • scoliosis (curvature of the spine) • behavioral problems. Symptoms usually stabilize between ages 3-5 years. Social interactions continue to improve into adulthood but motor function and movement gradually decline and muscles become increasingly weak.

KEGG : 36 Rett Syndrome is a severe neurological disorder found almost exclusively in girls. It is characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical hand movements. Mutations in MECP2 are identified in most patients with classic Rett syndrome. Recently, mutations in FOXG1 gene have been shown to cause congenital variant of Rett syndrome.

UniProtKB/Swiss-Prot : 73 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 : 74 Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6-18 months of age in... 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 372)
# Related Disease Score Top Affiliating Genes
1 chromosome 16p13.3 deletion syndrome, proximal 32.7 MECP2 HDAC1 CREB1
2 pervasive developmental disorder 32.5 UBE3A MECP2 FOXG1 CDKL5 BDNF
3 autism 31.9 UBE3A STXBP1 MECP2 JMJD1C HDAC1 GABBR2
4 mecp2 disorders 31.9 MECP2 FOXG1
5 epilepsy 31.6 UBE3A STXBP1 MECP2 GABBR2 CREB1 CDKL5
6 bruxism 31.6 STXBP1 MECP2 FOXG1 CDKL5
7 angelman syndrome 31.4 UBE3A MECP2 MBD4 CDKL5
8 gait apraxia 31.4 SIN3A MECP2 FOXG1 CDKL5
9 west syndrome 31.2 STXBP1 MECP2 FOXG1 CDKL5
10 early infantile epileptic encephalopathy 31.1 UBE3A STXBP1 MECP2 GABBR2 FOXG1 CDKL5
11 lennox-gastaut syndrome 30.9 STXBP1 MECP2 FOXG1 CDKL5
12 lubs x-linked mental retardation syndrome 30.7 UBE3A SIN3A NCOR1 MECP2 IRAK1 FOXG1
13 pitt-hopkins syndrome 30.6 UBE3A STXBP1 MECP2 FOXG1 CDKL5
14 childhood disintegrative disease 30.6 UBE3A MECP2 BDNF
15 fetal alcohol spectrum disorder 30.6 MECP2 CREB1 BDNF
16 dravet syndrome 30.5 STXBP1 MECP2 FOXG1 CDKL5
17 benign epilepsy with centrotemporal spikes 30.5 STXBP1 MECP2 CDKL5 BDNF
18 choreatic disease 30.5 RHOBTB2 FOXG1 BDNF
19 rett syndrome, congenital variant 11.7
20 developmental and epileptic encephalopathy 2 11.6
21 rothmund-thomson syndrome, type 2 11.5
22 foxg1 syndrome 11.3
23 encephalopathy, neonatal severe, due to mecp2 mutations 11.3
24 cdkl5 deficiency disorder 11.2
25 mecp2-related severe neonatal encephalopathy 11.2
26 rapadilino syndrome 11.2
27 atypical teratoid rhabdoid tumor 11.1
28 mental retardation, x-linked, syndromic 13 11.1
29 neuronal ceroid-lipofuscinoses 11.0
30 neurodevelopmental disorder with poor language and loss of hand skills 11.0
31 neurodegeneration with brain iron accumulation 5 11.0
32 coffin-lowry syndrome 11.0
33 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 11.0
34 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 11.0
35 asperger syndrome 11.0
36 childhood apraxia of speech 11.0
37 otopalatodigital syndrome, type i 10.9
38 malaria 10.9
39 erythrokeratoderma 10.9
40 scoliosis 10.8
41 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.7
42 microcephaly 10.7
43 alacrima, achalasia, and mental retardation syndrome 10.7
44 autism spectrum disorder 10.7
45 disease of mental health 10.7 UBE3A STXBP1 SIN3A NTNG1 NCOR1 MECP2
46 christianson syndrome 10.6 UBE3A MECP2 FOXG1 CDKL5
47 specific developmental disorder 10.6 UBE3A MECP2 CREB1 CDKL5 BDNF
48 mowat-wilson syndrome 10.6 UBE3A MECP2 FOXG1 CDKL5
49 congenital nervous system abnormality 10.6 UBE3A MECP2 FOXG1 CDKL5
50 infancy electroclinical syndrome 10.6 STXBP1 MECP2 FOXG1 CDKL5

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



Diseases related to Rett Syndrome

Symptoms & Phenotypes for Rett Syndrome

Human phenotypes related to Rett Syndrome:

58 31 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0002353
2 sleep disturbance 58 31 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0002360
3 developmental regression 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002376
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 absent speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001344
6 poor eye contact 58 31 hallmark (90%) Very frequent (99-80%) HP:0000817
7 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
8 abnormal pattern of respiration 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002793
9 functional motor deficit 58 31 hallmark (90%) Very frequent (99-80%) HP:0004302
10 loss of speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0002371
11 agitation 58 31 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0000713
12 progressive microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000253
13 high-pitched cry 58 31 hallmark (90%) Very frequent (99-80%) HP:0025430
14 stereotypical hand wringing 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012171
15 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
16 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
17 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
18 dystonia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001332
19 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
20 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
21 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
22 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
23 postnatal microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0005484
24 loss of ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0006957
25 functional abnormality of the gastrointestinal tract 58 31 frequent (33%) Frequent (79-30%) HP:0012719
26 episodic tachypnea 58 31 frequent (33%) Frequent (79-30%) HP:0002876
27 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
28 mutism 58 31 frequent (33%) Frequent (79-30%) HP:0002300
29 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
30 tongue thrusting 58 31 frequent (33%) Frequent (79-30%) HP:0100703
31 restrictive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000723
32 limb apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0030217
33 sudden episodic apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002882
34 limb myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0045084
35 hand apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0032588
36 seizure 31 frequent (33%) HP:0001250
37 scoliosis 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002650
38 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
39 neonatal hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001319
40 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
41 developmental stagnation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007281
42 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
43 impaired pain sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007328
44 increased serum lactate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002151
45 hyperammonemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001987
46 cholecystitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001082
47 infantile spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0012469
48 increased csf lactate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002490
49 increased serum pyruvate 58 31 occasional (7.5%) Occasional (29-5%) HP:0003542
50 delayed gross motor development 58 31 occasional (7.5%) Occasional (29-5%) HP:0002194

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
spasticity
dystonia
gait ataxia
truncal ataxia
more
Skeletal Spine:
scoliosis
kyphosis

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

Growth Weight:
cachexia

Cardiovascular Heart:
prolonged qtc interval
t-wave abnormalities

Muscle Soft Tissue:
muscle wasting

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

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux

Growth Height:
short stature

Head And Neck Teeth:
bruxism

Respiratory:
intermittent hyperventilation
periodic apnea while awake
breath holding

Skeletal Feet:
small feet
cold feet
vasomotor disturbance

Clinical features from OMIM®:

312750 (Updated 05-Mar-2021)

UMLS symptoms related to Rett Syndrome:


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

MGI Mouse Phenotypes related to Rett Syndrome:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.3 BDNF CREB1 DLX5 DLX6 FOXG1 GABBR2
2 behavior/neurological MP:0005386 10.27 BDNF CDKL5 CREB1 DLX5 FOXG1 GABBR2
3 cellular MP:0005384 10.22 BDNF CREB1 DLX5 FOXG1 HDAC1 IRAK1
4 nervous system MP:0003631 10.13 BDNF CDKL5 CREB1 DLX5 DLX6 FOXG1
5 embryo MP:0005380 10.09 CREB1 DLX5 DLX6 FOXG1 HDAC1 MBD4
6 integument MP:0010771 10.06 BDNF DLX5 DLX6 FOXG1 GABBR2 HDAC1
7 craniofacial MP:0005382 10 BDNF DLX5 DLX6 FOXG1 HDAC1 MBD4
8 normal MP:0002873 9.86 BDNF CREB1 DLX5 FOXG1 HDAC1 IRAK1
9 respiratory system MP:0005388 9.7 BDNF CREB1 DLX5 DLX6 FOXG1 HDAC1
10 skeleton MP:0005390 9.61 CREB1 DLX5 DLX6 FOXG1 IRAK1 JMJD1C
11 taste/olfaction MP:0005394 8.92 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 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
2
Risperidone Approved, Investigational Phase 3 106266-06-2 5073
3 Strawberry Approved Phase 3
4
Ethanol Approved Phase 3 64-17-5 702
5
Beta carotene Approved, Nutraceutical Phase 3 7235-40-7 5280489
6 Neurotransmitter Agents Phase 3
7 Psychotropic Drugs Phase 3
8 Dopamine Antagonists Phase 3
9 Dopamine Agents Phase 3
10 Antipsychotic Agents Phase 3
11 English Lavender Phase 3
12 Carotenoids Phase 3
13 Pharmaceutical Solutions Phase 3
14 Anticonvulsants Phase 3
15 Epidiolex Phase 3
16
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
17
Mecasermin Approved, Investigational Phase 2 68562-41-4
18
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
19
Zinc Approved, Investigational Phase 2 7440-66-6 32051
20
Desipramine Approved, Investigational Phase 2 50-47-5 2995
21
tannic acid Approved Phase 2 1401-55-4
22
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
23
Ketamine Approved, Vet_approved Phase 2 6740-88-1 3821
24
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
25
Dextromethorphan Approved Phase 2 125-71-3 5360696 5362449
26
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
27 Immunologic Factors Phase 1, Phase 2
28 Fingolimod Hydrochloride Phase 1, Phase 2
29 Immunosuppressive Agents Phase 1, Phase 2
30 Adjuvants, Immunologic Phase 2
31 (T,G)-A-L Phase 2
32
Glatiramer Acetate Phase 2 147245-92-9 3081884
33 Antirheumatic Agents Phase 2
34 Hypoglycemic Agents Phase 2
35 L 647318 Phase 2
36 Dihydromevinolin Phase 2
37 Lipid Regulating Agents Phase 2
38 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
39 Hypolipidemic Agents Phase 2
40 Antimetabolites Phase 2
41 Anticholesteremic Agents Phase 2
42 Insulin, Globin Zinc Phase 2
43 Mitogens Phase 2
44 insulin Phase 2
45 Antidepressive Agents Phase 2
46 Antidepressive Agents, Tricyclic Phase 2
47 Adrenergic Agents Phase 2
48 Anesthetics Phase 2
49 Anesthetics, Intravenous Phase 2
50 Anesthetics, Dissociative Phase 2

Interventional clinical trials:

(show top 50) (show all 56)
# Name Status NCT ID Phase Drugs
1 Pathogenesis of Rett Syndrome: Natural History and Treatment Unknown status NCT00069550 Phase 3 dextromethorphan;donepezil hydrochloride
2 Efficacy And Safety Of Risperidone In The Treatment Of Children With Autistic Disorder And Other Pervasive Developmental Disorders: A Canadian, Multicenter, Double-Blind, Placebo-Controlled Study Completed NCT00261508 Phase 3 risperidone
3 A Double-Blind, Randomized, Placebo-Controlled, Safety and Efficacy Study of ANAVEX2-73 in Patients With Rett Syndrome Recruiting NCT04304482 Phase 2, Phase 3 ANAVEX2-73 oral liquid;Placebo oral liquid
4 A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome Recruiting NCT04181723 Phase 3 Trofinetide
5 A Randomized, Double-blind, Placebo-controlled Trial to Investigate the Efficacy and Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome Active, not recruiting NCT03848832 Phase 3 GWP42003-P;Placebo
6 An Open-label Extension Trial to Investigate the Long-term Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome Enrolling by invitation NCT04252586 Phase 3 GWP42003-P
7 A 40-Week, Open-label Extension Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome Enrolling by invitation NCT04279314 Phase 3 Trofinetide
8 A Randomised, Double-Blind, Placebo-Controlled 6-month Study to Evaluate the Efficacy, Safety, and Tolerability of Sarizotan in Patients With Rett Syndrome With Respiratory Symptoms Terminated NCT02790034 Phase 2, Phase 3 Sarizotan;Placebo
9 Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome. Unknown status NCT03059160 Phase 2 Tridecanoic Acid
10 A Phase 1 Clinical Study to Assess Safety and Efficacy of Oral Fingolimod (FTY720) in Children With Rett Syndrome. Completed NCT02061137 Phase 1, Phase 2 fingolimod (FTY720)
11 Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone) Completed NCT02153723 Phase 2 Glatiramer Acetate
12 Pharmacological Treatment of Rett Syndrome With 3-Hydroxy-3 Methylglutaryl-coenzyme A Reductase Inhibitor-Lovastatin (Mevacor) Completed NCT02563860 Phase 2 Lovastatin
13 A Randomized, Double-blind, Placebo-controlled, Dose-ranging Study of the Safety and Pharmacokinetics of Oral NNZ-2566 in Pediatric Rett Syndrome Completed NCT02715115 Phase 2 NNZ-2566;Placebo
14 A Phase 2A Randomized, Placebo Controlled Trial of EPI-743 in Children With Rett Syndrome Completed NCT01822249 Phase 2 EPI-743;Placebo
15 Pharmacological Treatment of Rett Syndrome by Stimulation of Synaptic Maturation With Recombinant Human IGF-1(Mecasermin [rDNA] Injection) Completed NCT01777542 Phase 2 Recombinant Human Insulin Growth Factor 1 (rhIGF-1);Placebo
16 Placebo Controlled Trial of Dextromethorphan in Rett Syndrome Completed NCT01520363 Phase 2 dextromethorphan;placebo
17 A Phase II Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Dose-Escalation Study of NNZ-2566 in Rett Syndrome Completed NCT01703533 Phase 2 NNZ-2566;Placebo
18 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
19 A Double-Blind, Randomized, Placebo-Controlled, Dose Titration Study of ANAVEX2-73 in Patients With Rett Syndrome Completed NCT03758924 Phase 2 ANAVEX2-73;Placebo
20 Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin: An Open-label, 10-subject Clinical Trial of UX007 (Triheptanoin) in the Treatment of Mitochondrial Dysfunction in Participants With Rett Syndrome, Dyskinesia, and Epilepsy Recruiting NCT02696044 Phase 2 triheptanoin
21 A Randomized, Double-blind, Placebo-controlled, Cross-over Study to Assess the Safety, Tolerability and Efficacy of Oral Ketamine for Patients With Rett Syndrome Recruiting NCT03633058 Phase 2 Ketamine
22 A Double-Blind, Randomized, Placebo-Controlled, Safety and Efficacy Study of ANAVEX2-73 in Patients With Rett Syndrome Recruiting NCT03941444 Phase 2 ANAVEX2-73;Placebos
23 A Pilot Study of an Antioxidant Cocktail vs. Placebo in the Treatment of Children and Adolescents With Rett Syndrome Not yet recruiting NCT04041713 Phase 2 Rett-T
24 Trial of Dextromethorphan in Rett Syndrome Terminated NCT00593957 Phase 2 Dextromethorphan;Dextromethorphan
25 An Open Label, Exploratory Study to Investigate the Treatment Effect og Glatiramer Acetate (Copaxone ®) on Girls Woth Rett Syndrome Unknown status NCT02023424 Phase 1 Glatiramer Acetate (Copaxone®)
26 Pharmacological Treatment of Rett Syndrome by Stimulation of Synaptic Maturation With IGF-1 Completed NCT01253317 Phase 1 rhIGF-1
27 Ketamine for the Treatment of Rett Syndrome: An Exploratory Trial Terminated NCT02562820 Phase 1
28 The Findings of Resting-state Functional Magnetic Resonance Imaging , Susceptibility Weighted Imaging and Diffusion Spectrum Imaging in Rett Syndrome Unknown status NCT02903056
29 Rett Syndrome Natural History: Genetic and Physical Characteristics of Rett Syndrome Completed NCT00299312
30 Sleep Abnormalities in Rare Genetic Disorders: Angelman Syndrome, Rett Syndrome, and Prader Willi Completed NCT02670694
31 Search for New Genes Involved in Molecular Etiology of Rett Syndrome Through Comparative Genomic Hybridization on DNA Microarrays Completed NCT02885090
32 Effects of Creatine Supplementation in Rett Syndrome: A Randomized, Placebo-controlled Trial Completed NCT01147575
33 Osteoporosis in RETT Syndrome. Understanding the Mechanisms and Identification of Biomarkers. Completed NCT02110797
34 Metabolic Evaluation of Nutrition in Rett Syndrome: Creatine Metabolism Completed NCT01198015
35 Study of the Pathogenesis of Rett Syndrome Completed NCT00004807 dextromethorphan;topiramate;Donepezil
36 Nutritional Aspects of Rett Syndrome Completed NCT00004656
37 Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome Completed NCT00004773
38 Functional Abilities in Rett Syndrome Completed NCT00630422
39 A Systematic Metabolic Approach to the Evaluation of Nutrition in Rett Syndrome According to the Cardiorespiratory Phenotype in Dutch Rett Girls Completed NCT00786071
40 Feasibility and Effectiveness of an Individualized 12-week 'Uptime' Participation Intervention (U-PART) in Girls and Women With Rett Syndrome Completed NCT03848442
41 Development of a Behavioral Outcome Measure for Rett Syndrome (RettBe) Completed NCT03196323
42 The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome Completed NCT00891956
43 Parent-child Interaction and Communication in Families Who Have a Child With Rett Syndrome or Angelman Syndrome Completed NCT03720028
44 Advanced Grandparental Age as a Risk Factor for Autism and Other Pervasive Developmental Disorders Completed NCT00464477
45 Understanding Caregiver Adaptation to Pervasive Developmental Disorders Completed NCT00496210
46 Rett Syndrome, MECP2 Duplication, and Rett-Related Disorders Consortium, Rare Disease Clinical Research Network: Neurophysiologic Correlates Recruiting NCT03077308
47 The Role of Probiotics PS128 in Movement Disorders Recruiting NCT03259971
48 Rett Syndrome, MECP2 Duplication Disorder, and Rett- Related Disorders Natural History Protocol Recruiting NCT02738281
49 Biobanking of Rett Syndrome and Related Disorders Protocol Recruiting NCT02705677
50 Implementing Telehealth Support to Increase Physical Activity in Girls and Women With Rett Syndrome Recruiting NCT04167059

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 29 MECP2
2 Atypical Rett Syndrome 29
3 Rett Syndrome, Preserved Speech Variant 29

Anatomical Context for Rett Syndrome

MalaCards organs/tissues related to Rett Syndrome:

40
Brain, Eye, Cortex, Bone, Skeletal Muscle, Tongue, T Cells

Publications for Rett Syndrome

Articles related to Rett Syndrome:

(show top 50) (show all 3431)
# Title Authors PMID Year
1
Very mild cases of Rett syndrome with skewed X inactivation. 61 54 57 6
16690727 2006
2
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. 61 6 57 54
16183801 2006
3
Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. 54 6 57 61
16630165 2006
4
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 54 6 61 57
15057977 2004
5
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. 61 54 57 6
15034579 2004
6
Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. 6 57 61 54
12966522 2003
7
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. 57 6 61 54
11896459 2002
8
Preserved speech variants of the Rett syndrome: molecular and clinical analysis. 6 54 57 61
11746022 2001
9
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 6 57 61 54
10508514 1999
10
Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome. 61 57 6
19365833 2009
11
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). 61 6 57
18562141 2009
12
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. 57 6 61
18989701 2009
13
An explanation for another familial case of Rett syndrome: maternal germline mosaicism. 61 6 57
17440498 2007
14
Germline mosaicism for a MECP2 mutation in a man with two Rett daughters. 61 6 57
16965328 2006
15
p.R270X MECP2 mutation and mortality in Rett syndrome. 57 6 61
16077729 2005
16
Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome. 61 57 6
15857422 2005
17
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. 61 57 6
12966523 2003
18
De novo MECP2 mutation in a 46,XX male patient with Rett syndrome. 61 6 57
12481990 2002
19
Infantile hypotonia as a presentation of Rett syndrome. 6 57 61
12210319 2002
20
MECP2 mutations in Swedish Rett syndrome clusters. 57 61 6
12081725 2002
21
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. 61 6 57
11283202 2001
22
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. 6 57 61
11022934 2000
23
Preserved speech variant is allelic of classic Rett syndrome. 61 57 6
10854091 2000
24
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. 57 6 61
10577905 1999
25
Cortical reflex myoclonus in Rett syndrome. 6 57 61
9546328 1998
26
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. 6 57
11238684 2001
27
[On a unusual brain atrophy syndrome in hyperammonemia in childhood]. 57 6
5300597 1966
28
CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery. 61 6 54
19740913 2009
29
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. 54 61 6
19793311 2009
30
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. 6 54 61
19241098 2009
31
Spectrum of MECP2 mutations in New Zealand Rett syndrome patients. 6 54 61
19652677 2009
32
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 54 61 6
19161156 2009
33
Key clinical features to identify girls with CDKL5 mutations. 6 54 61
18790821 2008
34
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. 54 6 61
17993579 2008
35
Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. 61 6 54
18174559 2007
36
MECP2 mutations in Serbian Rett syndrome patients. 61 54 6
17986102 2007
37
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 61 6 54
17089071 2007
38
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. 61 54 6
17387578 2007
39
Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. 61 6 54
16813600 2006
40
Deleterious mutations in exon 1 of MECP2 in Rett syndrome. 61 54 6
16829352 2006
41
Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome. 54 6 61
16672765 2006
42
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. 61 6 54
16473305 2006
43
Early onset seizures and Rett-like features associated with mutations in CDKL5. 6 54 61
16015284 2005
44
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. 54 61 6
15917271 2005
45
Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR). 6 61 54
15841480 2005
46
Another patient with MECP2 mutation without classic Rett syndrome phenotype. 61 54 6
15866439 2005
47
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. 6 61 54
15737703 2005
48
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 6 61 54
15689447 2005
49
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. 6 54 61
15499549 2004
50
Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype. 54 6 61
15526954 2004

Variations for Rett Syndrome

ClinVar genetic disease variations for Rett Syndrome:

6 (show top 50) (show all 828)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MECP2 MECP2, 44-BP DEL, NT1159 Deletion Pathogenic 11822
2 MECP2 NM_001110792.2(MECP2):c.500T>C (p.Phe167Ser) SNV Pathogenic 11810 rs28934905 X:153296815-153296815 X:154031364-154031364
3 MECP2 MECP2, 1-BP DEL, 806G Deletion Pathogenic 11812
4 MECP2 MECP2, 44-BP DEL, NT1152 Deletion Pathogenic 11813
5 MECP2 NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) SNV Pathogenic 11815 rs61750240 X:153296471-153296471 X:154031020-154031020
6 MECP2 MECP2, IVS2AS, A-G, -2 SNV Pathogenic 11816
7 MECP2 NM_001110792.2(MECP2):c.203_204del (p.Pro68fs) Deletion Pathogenic 11818 rs267608434 X:153297867-153297868 X:154032416-154032417
8 MECP2 MECP2, 41-BP DEL, NT1157 Deletion Pathogenic 11820
9 MECP2 MECP2, 41-BP DEL, NT1159 Deletion Pathogenic 11821
10 MECP2 MECP2, 1-BP DEL, 76C Deletion Pathogenic 11826
11 MECP2 NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) SNV Pathogenic 11828 rs61748421 X:153296777-153296777 X:154031326-154031326
12 MECP2 MECP2, 52-BP DEL Deletion Pathogenic 11832
13 MECP2 NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) SNV Pathogenic 11833 rs61748396 X:153296856-153296856 X:154031405-154031405
14 MECP2 NM_001110792.2(MECP2):c.1399G>T (p.Glu467Ter) SNV Pathogenic 11834 rs104894864 X:153295916-153295916 X:154030465-154030465
15 MECP2 NM_001110792.2(MECP2):c.746del (p.Gly249fs) Deletion Pathogenic 11846 rs61749743 X:153296569-153296569 X:154031118-154031118
16 FOXG1 NM_005249.5(FOXG1):c.765G>A (p.Trp255Ter) SNV Pathogenic 13867 rs121913678 14:29237250-29237250 14:28768044-28768044
17 FOXG1 FOXG1, 1-BP DEL, 969C Deletion Pathogenic 13868
18 FOXG1 NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter) SNV Pathogenic 13869 rs267606826 14:29237109-29237109 14:28767903-28767903
19 FOXG1 NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu) SNV Pathogenic 13870 rs267606828 14:29237128-29237128 14:28767922-28767922
20 FOXG1 NM_005249.5(FOXG1):c.924G>A (p.Trp308Ter) SNV Pathogenic 13871 rs267606827 14:29237409-29237409 14:28768203-28768203
21 FOXG1 NM_005249.5(FOXG1):c.1200C>G (p.Tyr400Ter) SNV Pathogenic 13872 rs138747073 14:29237685-29237685 14:28768479-28768479
22 FOXG1 FOXG1, 1-BP DUP, 460G Duplication Pathogenic 29815
23 MECP2 MECP2, 11-BP DEL, EX1 Deletion Pathogenic 11836
24 MECP2 NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) SNV Pathogenic 11844 rs179363900 X:153296825-153296825 X:154031374-154031374
25 MECP2 NM_004992.3(MECP2):c.(?_-1)_(26_?)del Deletion Pathogenic 143300
26 MECP2 NM_001110792.2(MECP2):c.1045_1063del (p.Lys349fs) Deletion Pathogenic 143303 rs267608559 X:153296252-153296270 X:154030801-154030819
27 MECP2 NM_001110792.2(MECP2):c.136_139del (p.Asp46fs) Deletion Pathogenic 143304 rs61754428 X:153297932-153297935 X:154032481-154032484
28 MECP2 NM_001110792.2(MECP2):c.1099_1101AGC[2] (p.Ser369del) Microsatellite Pathogenic 143320 rs267608564 X:153296208-153296210 X:154030757-154030759
29 MECP2 NM_001110792.2(MECP2):c.1115C>A (p.Ser372Ter) SNV Pathogenic 143322 rs61752372 X:153296200-153296200 X:154030749-154030749
30 MECP2 NM_001110792.2(MECP2):c.143_144del (p.Lys48fs) Deletion Pathogenic 143323 rs267608425 X:153297927-153297928 X:154032476-154032477
31 MECP2 NM_001110792.2(MECP2):c.1123A>T (p.Lys375Ter) SNV Pathogenic 143326 rs61752375 X:153296192-153296192 X:154030741-154030741
32 MECP2 NM_001110792.2(MECP2):c.140_143AGAA[1] (p.Glu49fs) Microsatellite Pathogenic 143328 rs267608426 X:153297924-153297927 X:154032473-154032476
33 MECP2 NM_001110792.2(MECP2):c.1135_1154del (p.His379fs) Deletion Pathogenic 143329 rs267608567 X:153296161-153296180 X:154030710-154030729
34 MECP2 NM_001110792.2(MECP2):c.1074C>G (p.Ser358Arg) SNV Pathogenic 143310 rs61752365 X:153296241-153296241 X:154030790-154030790
35 MECP2 NM_001110792.2(MECP2):c.1163_1173del (p.Pro388fs) Deletion Pathogenic 143337 rs267608340 X:153296142-153296152 X:154030691-154030701
36 MECP2 NM_001110792.2(MECP2):c.1187_1224del (p.Pro396fs) Deletion Pathogenic 143351 rs267608574 X:153296091-153296128 X:154030640-154030677
37 MECP2 NM_001110792.2(MECP2):c.1187_1227del (p.Pro396fs) Deletion Pathogenic 143352 rs63749024 X:153296088-153296128 X:154030637-154030677
38 MECP2 NM_001110792.2(MECP2):c.1188_1191del (p.Pro397fs) Deletion Pathogenic 143353 rs267608576 X:153296124-153296127 X:154030673-154030676
39 MECP2 NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs) Deletion Pathogenic 143354 rs267608372 X:153296084-153296127 X:154030633-154030676
40 MECP2 NM_001110792.2(MECP2):c.1189_1226del (p.Pro397fs) Deletion Pathogenic 143355 rs267608577 X:153296089-153296126 X:154030638-154030675
41 MECP2 NM_001110792.2(MECP2):c.1190_1221del (p.Pro397fs) Deletion Pathogenic 143356 rs267608578 X:153296094-153296125 X:154030643-154030674
42 MECP2 NM_001110792.2(MECP2):c.1190_1233del (p.Pro397fs) Deletion Pathogenic 143357 rs267608579 X:153296082-153296125 X:154030631-154030674
43 MECP2 NM_001110792.2(MECP2):c.1191_1219del (p.Pro399fs) Deletion Pathogenic 143359 rs267608580 X:153296096-153296124 X:154030645-154030673
44 MECP2 NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) Deletion Pathogenic 143360 rs267608329 X:153296079-153296124 X:154030628-154030673
45 MECP2 NM_001110792.2(MECP2):c.1192_1193dup (p.Pro399fs) Duplication Pathogenic 143361 rs267608584 X:153296121-153296122 X:154030670-154030671
46 MECP2 NM_001110792.2(MECP2):c.1192_1208del (p.Pro397_Leu398insTer) Deletion Pathogenic 143362 rs267608582 X:153296107-153296123 X:154030656-154030672
47 MECP2 NM_001110792.2(MECP2):c.1193_1223del (p.Leu398fs) Deletion Pathogenic 143365 rs61754419 X:153296092-153296122 X:154030641-154030671
48 MECP2 NM_001110792.2(MECP2):c.1193_1235del (p.Leu398fs) Deletion Pathogenic 143371 rs267608587 X:153296080-153296122 X:154030629-154030671
49 MECP2 NM_001110792.2(MECP2):c.1194_1203del (p.Pro399fs) Deletion Pathogenic 143373 rs63583161 X:153296112-153296121 X:154030661-154030670
50 MECP2 NM_001110792.2(MECP2):c.1194_1222del (p.Pro399fs) Deletion Pathogenic 143374 rs63749029 X:153296093-153296121 X:154030642-154030670

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

73 (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

Copy number variations for Rett Syndrome from CNVD:

7 (show top 50) (show all 64)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 22472 1 16698906 17124554 Copy number CROCC Rett syndrome
2 22473 1 16698906 17124554 Copy number MST1L Rett syndrome
3 22474 1 16698906 17124554 Duplication or deletion 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 deletion OR2T34 Rett syndrome
8 43286 10 46100000 50100000 Copy number GPRIN2 Rett syndrome
9 43406 10 46396163 46568496 Copy number NPY4R 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 duplication 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 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 KANSL1 Rett syndrome
33 144180 2 242514593 242655973 Deletion Rett syndrome
34 144868 2 3060975 3460506 Copy number TRAPPC12 Rett syndrome
35 144869 2 3060975 3460506 Deletion EIPR1 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 LINC00488 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 deletion UGT2B17 Rett syndrome
46 202038 5 763944 848744 Duplication ZDHHC11 Rett syndrome
47 208365 6 168114265 168324002 Copy number KIF25-AS1 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 AFDN 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 SLC9A3 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 C4 Brain - 5.14 0.039
6 FLOT2 flotillin 2 Brain + 5.09 0.017
7 GRIN2C glutamate ionotropic receptor NMDA type subunit 2C Brain + 5.02 0.012
8 ACVR2B activin A receptor type 2B Brain + 4.94 0.000
9 ASMT acetylserotonin O-methyltransferase Brain + 4.78 0.000
10 DCTN5 dynactin subunit 5 Brain + 4.72 0.000
11 F2RL1 F2R like trypsin receptor 1 Brain - 4.69 0.004
12 INHBB inhibin subunit beta B Brain + 4.59 0.028
13 FOLR1 folate receptor alpha 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 MRTFA myocardin related transcription factor A 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 subunit Brain + 4.08 0.049
21 SOX11 SRY-box transcription factor 11 Brain + 3.98 0.000
22 KIFC3 kinesin family member C3 Brain + 3.91 0.017
23 APBA3 amyloid beta 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 subunit alpha 9 Brain + 3.82 0.036
26 MYL5 myosin light chain 5 Brain + 3.74 0.000
27 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 Brain + 3.69 0.028
28 SFTPB surfactant protein B Brain - 3.48 0.003
29 XPNPEP1 X-prolyl aminopeptidase 1 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 transcription factor 1 Brain + 3.41 0.008
33 MYCL MYCL proto-oncogene, bHLH transcription factor 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 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 Brain + 3.17 0.001
40 IFNA5 interferon alpha 5 Brain + 3.16 0.006
41 CEP57 centrosomal protein 57 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 copper transporting beta 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 16)
# Super pathways Score Top Affiliating Genes
1 12.39 STXBP1 MECP2 GABBR2 CREB1
2 12.22 SIN3A NCOR1 MECP2 HDAC1
3
Show member pathways
12.14 SIN3A NCOR1 HDAC1 FOXG1
5 12.02 SIN3A NCOR1 JMJD1C HDAC1
6
Show member pathways
11.94 SIN3A NCOR1 IRAK1 HDAC1
7 11.88 MECP2 HDAC1 CREB1 BDNF
8 11.81 SIN3A NCOR1 HDAC1
9
Show member pathways
11.78 HDAC1 CREB1 BDNF
10 11.51 UBE3A SIN3A NCOR1 HDAC1 CREB1
11 11.47 SIN3A NCOR1 HDAC1
12 11.45 UBE3A SIN3A HDAC1
13
Show member pathways
11.27 SIN3A NCOR1 MECP2 HDAC1
14 11.24 SIN3A NCOR1 HDAC1 FOXG1 CREB1
15 11.07 UBE3A SIN3A NCOR1 MECP2 HDAC1 DLX6
16 10.67 CREB1 BDNF

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 10.16 UBE3A STXBP1 SIN3A PRPF40A NCOR1 MECP2
2 nucleoplasm GO:0005654 10.1 STXBP1 SIN3A PRPF40A NCOR1 MECP2 MBD4
3 chromatin GO:0000785 9.81 SIN3A NCOR1 JMJD1C HDAC1 FOXG1 DLX6
4 transcriptional repressor complex GO:0017053 9.54 SIN3A NCOR1 HDAC1
5 Sin3 complex GO:0016580 9.13 SIN3A NCOR1 HDAC1
6 histone deacetylase complex GO:0000118 8.92 SIN3A NCOR1 JMJD1C HDAC1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.85 SIN3A NCOR1 MECP2 HDAC1 FOXG1
2 axonogenesis GO:0007409 9.54 NTNG1 DLX5 CREB1
3 head development GO:0060322 9.52 DLX6 DLX5
4 anatomical structure formation involved in morphogenesis GO:0048646 9.51 DLX6 DLX5
5 circadian rhythm GO:0007623 9.5 NCOR1 HDAC1 CREB1
6 negative regulation of myotube differentiation GO:0010832 9.49 HDAC1 BDNF
7 embryo development GO:0009790 9.48 DLX6 DLX5
8 negative regulation of androgen receptor signaling pathway GO:0060766 9.43 NCOR1 HDAC1
9 memory GO:0007613 9.43 MECP2 CREB1 BDNF
10 protein deacetylation GO:0006476 9.4 SIN3A HDAC1
11 inner ear morphogenesis GO:0042472 9.33 FOXG1 DLX6 DLX5
12 aging GO:0007568 9.26 SIN3A IRAK1 FOXG1 CREB1
13 rhythmic process GO:0048511 9.02 UBE3A SIN3A NCOR1 HDAC1 CREB1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.81 SIN3A NCOR1 MECP2 MBD4 HDAC1 FOXG1
2 transcription factor binding GO:0008134 9.67 SIN3A MECP2 HDAC1 CREB1
3 transcription regulatory region sequence-specific DNA binding GO:0000976 9.56 NCOR1 HDAC1 DLX5 CREB1
4 protein N-terminus binding GO:0047485 9.5 STXBP1 MECP2 HDAC1
5 transcription corepressor activity GO:0003714 9.26 SIN3A NCOR1 MECP2 HDAC1
6 RNA polymerase II activating transcription factor binding GO:0001102 8.8 SIN3A NCOR1 CREB1

Sources for Rett Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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