RTT
MCID: RTT002
MIFTS: 78

Rett Syndrome (RTT)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Rett Syndrome

MalaCards integrated aliases for Rett Syndrome:

Name: Rett Syndrome 57 11 19 42 52 58 75 73 28 12 53 5 41 43 14 38 71 31 33
Atypical Rett Syndrome 19 58 28 5
Rtt 57 42 73
Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use 57 19
Rett Syndrome, Preserved Speech Variant 57 28
Rett Syndrome, Atypical 57 71
Rett Syndrome Variant 19 58
Rett's Disorder 11 42
Rett Disorder 42 73
Rts 57 73
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome 42
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use 73
Rett Syndrome Preserved Speech Variant 73
Rett Syndrome, Zappella Variant 5
Cerebroatrophic Hyperammonemia 11
Rett Syndrome Zappella Variant 73
Rett Like Syndrome 19
Rett's Syndrome 42
Atypical Rtt 58

Characteristics:


Inheritance:

Rett Syndrome: X-linked dominant 58 57
Atypical Rett Syndrome: Autosomal dominant,X-linked dominant 58

Prevelance:

1-5/10000 (Europe) 1-9/100000 (United Kingdom) 58

Age Of Onset:

Rett Syndrome: Infancy 58
Atypical Rett Syndrome: Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Rett Syndrome

MedlinePlus Genetics: 42 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.

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

Orphanet 58 Rett syndrome: A rare severe, X-linked, neurodevelopmental disorder characterized by rapid developmental regression in infancy, partial or complete loss of purposeful hand movements, loss of speech, gait abnormalities, and stereotypic hand movements, commonly associated with deceleration of head growth, severe intellectual disability, seizures, and breathing abnormalities. The disorder has a progressive clinical course and may associate various comorbidities including gastrointestinal diseases, scoliosis, and behavioral disorders.

Atypical rett syndrome: A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe.

NINDS: 52 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.

MedlinePlus: 41 Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include: Loss of speech Loss of hand movements such as grasping Compulsive movements such as hand wringing Balance problems Breathing problems Behavior problems Learning problems or intellectual disability Rett syndrome has no cure. You can treat some of the symptoms with medicines, surgery, and physical and speech therapy. Most people with Rett syndrome live into middle age and beyond. They will usually need care throughout their lives. NIH: National Institute of Child Health and Human Development

GARD: 19 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. 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.

UniProtKB/Swiss-Prot: 73 An X-linked dominant neurodevelopmental disorder, and one of the most common causes of intellectual disability 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, intellectual disability and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood.

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 08-Dec-2022)

Disease Ontology: 11 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.

Wikipedia: 75 Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6-18 months of age and... 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 497)
# Related Disease Score Top Affiliating Genes
1 developmental and epileptic encephalopathy 2 33.3 STXBP1 SCN1A MECP2 CDKL5
2 chromosome 16p13.3 deletion syndrome, proximal 32.8 SMC1A MECP2 HDAC1 CREB1
3 pervasive developmental disorder 32.6 UBE3A SCN1A MECP2 FOXG1 CDKL5 BDNF
4 autism 32.3 UBE3A TBL1XR1 STXBP1 SMC1A SIN3A SCN1A
5 microcephaly 31.9 UBE3A STXBP1 SMC1A SIN3A SCN1A MECP2
6 encephalopathy 31.8 STXBP1 SCN1A MECP2 CDKL5
7 epilepsy 31.7 UBE3A STXBP1 SCN1A MECP2 GRIA3 GABBR2
8 bruxism 31.7 STXBP1 MECP2 FOXG1 CDKL5 BDNF
9 spasticity 31.5 STXBP1 MECP2 GRIA3
10 angelman syndrome 31.5 UBE3A MECP2 MBD4 DLX5 CDKL5 BDNF
11 west syndrome 31.4 UBE3A TBL1XR1 STXBP1 SCN1A MECP2 GRIA3
12 gait apraxia 31.3 MECP2 FOXG1 CDKL5
13 learning disability 31.2 TBL1XR1 MECP2 BDNF
14 attention deficit-hyperactivity disorder 31.1 UBE3A SCN1A MECP2 CREB1 BDNF
15 early infantile epileptic encephalopathy 31.0 STXBP1 SCN1A MECP2 GABBR2 FOXG1 CDKL5
16 lennox-gastaut syndrome 31.0 STXBP1 SCN1A MECP2 FOXG1 CDKL5
17 stereotypic movement disorder 30.9 MECP2 FOXG1 CDKL5
18 pitt-hopkins syndrome 30.8 UBE3A STXBP1 SMC1A MECP2 FOXG1 CDKL5
19 syndromic intellectual disability 30.8 UBE3A MECP2 GRIA3 CDKL5 BDNF
20 childhood disintegrative disease 30.8 UBE3A MECP2 BDNF
21 status epilepticus 30.7 SCN1A GRIA3 BDNF
22 developmental and epileptic encephalopathy 30.6 UBE3A STXBP1 SMC1A SCN1A RHOBTB2 MECP2
23 dravet syndrome 30.6 STXBP1 SCN1A MECP2 FOXG1 CDKL5
24 focal epilepsy 30.6 SCN1A MECP2 CDKL5 BDNF
25 nervous system disease 30.5 SMC1A SCN1A MECP2 HDAC1 FOXG1 CREB1
26 alcohol-related neurodevelopmental disorder 30.5 STXBP1 MECP2 CDKL5
27 developmental and epileptic encephalopathy 1 30.5 STXBP1 SCN1A CDKL5
28 ohtahara syndrome 30.5 STXBP1 SCN1A CDKL5
29 benign epilepsy with centrotemporal spikes 30.5 STXBP1 SCN1A MECP2 CDKL5
30 choreatic disease 30.4 RHOBTB2 FOXG1 BDNF
31 chromosomal disease 30.1 UBE3A MECP2 BDNF
32 rett syndrome, congenital variant 11.7
33 rothmund-thomson syndrome, type 2 11.5
34 encephalopathy, neonatal severe, due to mecp2 mutations 11.4
35 cdkl5 deficiency disorder 11.4
36 foxg1 syndrome 11.3
37 intellectual developmental disorder, x-linked, syndromic 13 11.1
38 neurodevelopmental disorder with poor language and loss of hand skills 11.0
39 neurodegeneration with brain iron accumulation 5 11.0
40 coffin-lowry syndrome 11.0
41 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 11.0
42 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 11.0
43 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 11.0
44 asperger syndrome 11.0
45 atypical autism 11.0
46 childhood apraxia of speech 11.0
47 rothmund-thomson syndrome, type 1 11.0
48 otopalatodigital syndrome, type i 11.0
49 atypical teratoid rhabdoid tumor 11.0
50 autism spectrum disorder 11.0

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 30 (show top 50) (show all 91)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 30 Hallmark (90%) Frequent (79-30%)
Very frequent (99-80%)
HP:0002353
2 sleep disturbance 58 30 Hallmark (90%) Occasional (29-5%)
Very frequent (99-80%)
HP:0002360
3 developmental regression 58 30 Very rare (1%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0002376
4 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
5 absent speech 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001344
6 poor eye contact 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000817
7 feeding difficulties 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011968
8 abnormal pattern of respiration 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0002793
9 functional motor deficit 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004302
10 loss of speech 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002371
11 agitation 58 30 Hallmark (90%) Occasional (29-5%)
Very frequent (99-80%)
HP:0000713
12 progressive microcephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000253
13 high-pitched cry 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0025430
14 stereotypical hand wringing 58 30 Very rare (1%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0012171
15 seizure 58 30 Very rare (1%) Frequent (79-30%)
Very frequent (99-80%)
HP:0001250
16 spasticity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001257
17 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
HP:0001508
18 skeletal muscle atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003202
19 dystonia 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0001332
20 severe global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0011344
21 small hand 58 30 Frequent (33%) Frequent (79-30%)
HP:0200055
22 gait ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002066
23 short foot 58 30 Frequent (33%) Frequent (79-30%)
HP:0001773
24 difficulty walking 58 30 Frequent (33%) Frequent (79-30%)
HP:0002355
25 functional abnormality of the gastrointestinal tract 58 30 Frequent (33%) Frequent (79-30%)
HP:0012719
26 episodic tachypnea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002876
27 mutism 58 30 Frequent (33%) Frequent (79-30%)
HP:0002300
28 bradykinesia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002067
29 impaired social interactions 58 30 Frequent (33%) Frequent (79-30%)
HP:0000735
30 tongue thrusting 58 30 Frequent (33%) Frequent (79-30%)
HP:0100703
31 restrictive behavior 58 30 Frequent (33%) Frequent (79-30%)
HP:0000723
32 limb apraxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0030217
33 sudden episodic apnea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002882
34 limb myoclonus 58 30 Frequent (33%) Frequent (79-30%)
HP:0045084
35 hand apraxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0032588
36 secondary microcephaly 30 Frequent (33%) HP:0005484
37 loss of ambulation 30 Frequent (33%) HP:0002505
38 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0002650
39 kyphosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002808
40 neonatal hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001319
41 intellectual disability, mild 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001256
42 developmental stagnation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007281
43 growth delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001510
44 impaired pain sensation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007328
45 increased serum lactate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002151
46 hyperammonemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001987
47 cholecystitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001082
48 infantile spasms 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012469
49 increased csf lactate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002490
50 increased serum pyruvate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003542

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
spasticity
dystonia
gait ataxia
truncal ataxia
seizures
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 08-Dec-2022)

UMLS symptoms related to Rett Syndrome:


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

MGI Mouse Phenotypes related to Rett Syndrome:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.33 BDNF CDKL5 CREB1 DLX5 DOK7 FOXG1
2 growth/size/body region MP:0005378 10.24 BDNF CREB1 DLX5 DOK7 FOXG1 GABBR2
3 behavior/neurological MP:0005386 10.17 BDNF CDKL5 CREB1 DLX5 DOK7 FOXG1
4 normal MP:0002873 10.1 BDNF CREB1 DLX5 FOXG1 HDAC1 MECP2
5 muscle MP:0005369 10.03 CREB1 DLX5 DOK7 FOXG1 HDAC1 MECP2
6 no phenotypic analysis MP:0003012 10.02 BDNF CDKL5 GRIA3 HDAC1 MECP2 STXBP1
7 hearing/vestibular/ear MP:0005377 9.95 BDNF DLX5 DOK7 FOXG1 MECP2 STXBP1
8 mortality/aging MP:0010768 9.91 BDNF CREB1 DLX5 DOK7 FOXG1 GABBR2
9 respiratory system MP:0005388 9.86 BDNF CREB1 DLX5 DOK7 FOXG1 HDAC1
10 taste/olfaction MP:0005394 9.46 BDNF CDKL5 DLX5 FOXG1
11 integument MP:0010771 9.28 BDNF DLX5 FOXG1 GRIA3 HDAC1 MECP2

Drugs & Therapeutics for Rett Syndrome

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

(show top 50) (show all 79)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Risperidone Approved, Investigational Phase 3 106266-06-2 5073
2
Dopamine Approved Phase 3 62-31-7, 51-61-6 681
3
Cannabidiol Approved, Investigational Phase 3 13956-29-1 521372 644019
4
Ethanol Approved Phase 3 64-17-5 702
5 Strawberry Approved Phase 3
6
Glutamic acid Approved, Nutraceutical Phase 3 56-86-0 33032
7 English Lavender Phase 3
8 Neurotransmitter Agents Phase 3
9 Psychotropic Drugs Phase 3
10 Antipsychotic Agents Phase 3
11 Dopamine Antagonists Phase 3
12 Dopamine Agents Phase 3
13 Anticonvulsants Phase 3
14 Pharmaceutical Solutions Phase 3
15
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
16
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
17
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
18
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
19
Ketamine Approved, Vet_approved Phase 2 6740-88-1, 1867-66-9 3821
20
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn Phase 2 14838-15-4, 492-39-7 131954576 4786 26934
21
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
22
Dextromethorphan Approved Phase 2 125-71-3 5362449 5360696
23
Desipramine Approved, Investigational Phase 2 50-47-5 2995
24
Mecasermin Approved, Investigational Phase 2 68562-41-4
25 Antioxidants Phase 2
26 Antirheumatic Agents Phase 2
27 Adjuvants, Immunologic Phase 2
28 (T,G)-A-L Phase 2
29 Glatiramer Acetate Phase 2
30 Immunosuppressive Agents Phase 1, Phase 2
31 Immunologic Factors Phase 1, Phase 2
32 L 647318 Phase 2
33 Dihydromevinolin Phase 2
34 Antimetabolites Phase 2
35 Hypolipidemic Agents Phase 2
36 Anticholesteremic Agents Phase 2
37 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
38 Lipid Regulating Agents Phase 2
39
Fingolimod Hydrochloride Phase 1, Phase 2 162359-56-0
40 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
41 Excitatory Amino Acid Antagonists Phase 2
42 Respiratory System Agents Phase 2
43 Antitussive Agents Phase 2
44 Hypoglycemic Agents Phase 2
45 Adrenergic Agents Phase 2
46 Antidepressive Agents, Tricyclic Phase 2
47 Antidepressive Agents Phase 2
48 Anesthetics, Intravenous Phase 2
49 Anesthetics, General Phase 2
50 Anesthetics, Dissociative Phase 2

Interventional clinical trials:

(show top 50) (show all 69)
# Name Status NCT ID Phase Drugs
1 Pathogenesis of Rett Syndrome: Natural History and Treatment Unknown status NCT00069550 Phase 3 dextromethorphan;donepezil hydrochloride
2 A 40-Week, Open-label Extension Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome Completed NCT04279314 Phase 3 Trofinetide
3 A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome Completed NCT04181723 Phase 3 Trofinetide
4 A Double-Blind, Randomized, Placebo-Controlled, Safety and Efficacy Study of ANAVEX2-73 in Patients With Rett Syndrome Completed NCT03941444 Phase 3 ANAVEX2-73;Placebo
5 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
6 ANAVEX2-73-RS-003 is a Phase 2/3, Double-blind, Randomized, Placebo-controlled Safety and Efficacy Study in Pediatric Patients With RTT Recruiting NCT04304482 Phase 2, Phase 3 ANAVEX2-73 oral liquid;Placebo oral liquid
7 An Open-Label Study of Trofinetide for the Treatment of Girls Two to Five Years of Age Who Have Rett Syndrome Active, not recruiting NCT04988867 Phase 2, Phase 3 Trofinetide
8 An Open-Label Extension Study of Continuing Treatment With Trofinetide for Rett Syndrome Enrolling by invitation NCT04776746 Phase 3 trofinetide
9 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 Terminated NCT03848832 Phase 3 GWP42003-P;Placebo
10 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 low dose;Sarizotan high dose;Placebo
11 An Open-label Extension Trial to Investigate the Long-term Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome Terminated NCT04252586 Phase 3 GWP42003-P
12 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 Unknown status NCT02696044 Phase 2 triheptanoin
13 Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome. Unknown status NCT03059160 Phase 2 Tridecanoic Acid
14 A Pilot Study of an Antioxidant Cocktail vs. Placebo in the Treatment of Children and Adolescents With Rett Syndrome Unknown status NCT04041713 Phase 2 Rett-T
15 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
16 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
17 A Double-Blind, Randomized, Placebo-Controlled, Dose Titration Study of ANAVEX2-73 in Patients With Rett Syndrome Completed NCT03758924 Phase 2 ANAVEX2-73;Placebo
18 Pharmacological Treatment of Rett Syndrome With 3-Hydroxy-3 Methylglutaryl-coenzyme A Reductase Inhibitor-Lovastatin (Mevacor) Completed NCT02563860 Phase 2 Lovastatin
19 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)
20 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
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 Completed NCT03633058 Phase 2 Ketamine
22 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
23 Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone) Completed NCT02153723 Phase 2 Glatiramer Acetate
24 A Phase 2A Randomized, Placebo Controlled Trial of EPI-743 in Children With Rett Syndrome Completed NCT01822249 Phase 2 EPI-743;Placebo
25 Placebo Controlled Trial of Dextromethorphan in Rett Syndrome Completed NCT01520363 Phase 2 dextromethorphan;placebo
26 Open-label, Randomized, Dose-escalation and Dose-expansion Study of the Safety and Preliminary Efficacy of a Single Intrathecal Administration of TSHA-102, an AAV9-Delivered Gene Therapy, in the Treatment of Adult Females With Rett Syndrome Recruiting NCT05606614 Phase 1, Phase 2
27 Phase 2, Double-Blind, Randomized, Placebo-Controlled Clinical Study of VYNT-0126 in the Treatment of Rett Syndrome in Adult Female Patients Not yet recruiting NCT05625568 Phase 2 VYNT-0126;Placebo
28 Trial of Dextromethorphan in Rett Syndrome Terminated NCT00593957 Phase 2 Dextromethorphan
29 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®)
30 Pharmacological Treatment of Rett Syndrome by Stimulation of Synaptic Maturation With IGF-1 Completed NCT01253317 Phase 1 rhIGF-1
31 Ketamine for the Treatment of Rett Syndrome: An Exploratory Trial Terminated NCT02562820 Phase 1
32 Implementing Telehealth Support to Increase Physical Activity in Girls and Women With Rett Syndrome Unknown status NCT04167059
33 Study of Biological Parameters in 100 Girls With RETT Syndrome Unknown status NCT04014985
34 The Findings of Resting-state Functional Magnetic Resonance Imaging , Susceptibility Weighted Imaging and Diffusion Spectrum Imaging in Rett Syndrome Unknown status NCT02903056
35 The Role of Probiotics PS128 in Movement Disorders Unknown status NCT03259971
36 Dysautonomic Signs Among MECP2boys Unknown status NCT04502199
37 Rett Syndrome Natural History: Genetic and Physical Characteristics of Rett Syndrome Completed NCT00299312
38 Sleep Abnormalities in Rare Genetic Disorders: Angelman Syndrome, Rett Syndrome, and Prader Willi Completed NCT02670694
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 Rett Syndrome, MECP2 Duplication, and Rett-Related Disorders Consortium, Rare Disease Clinical Research Network: Neurophysiologic Correlates Completed NCT03077308
41 Parent-child Interaction and Communication in Families Who Have a Child With Rett Syndrome or Angelman Syndrome Completed NCT03720028
42 Osteoporosis in RETT Syndrome. Understanding the Mechanisms and Identification of Biomarkers. Completed NCT02110797
43 Functional Abilities in Rett Syndrome Completed NCT00630422
44 Rett Syndrome, MECP2 Duplication Disorder, and Rett- Related Disorders Natural History Protocol Completed NCT02738281
45 Feasibility and Effectiveness of an Individualized 12-week 'Uptime' Participation Intervention (U-PART) in Girls and Women With Rett Syndrome Completed NCT03848442
46 Biobanking of Rett Syndrome and Related Disorders Protocol Completed NCT02705677
47 Effects of Creatine Supplementation in Rett Syndrome: A Randomized, Placebo-controlled Trial Completed NCT01147575
48 The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome Completed NCT00891956
49 Study of the Pathogenesis of Rett Syndrome Completed NCT00004807 dextromethorphan;topiramate;Donepezil
50 Nutritional Aspects of Rett Syndrome Completed NCT00004656

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, Preserved Speech Variant 28

Anatomical Context for Rett Syndrome

Organs/tissues related to Rett Syndrome:

MalaCards : Brain, Eye, Skeletal Muscle, Tongue, T Cells, Prefrontal Cortex, Cortex

Publications for Rett Syndrome

Articles related to Rett Syndrome:

(show top 50) (show all 3846)
# Title Authors PMID Year
1
Very mild cases of Rett syndrome with skewed X inactivation. 53 62 57 5
16690727 2006
2
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. 53 62 57 5
16183801 2006
3
Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. 53 62 57 5
16630165 2006
4
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. 53 62 57 5
15034579 2004
5
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 53 62 57 5
15057977 2004
6
Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. 53 62 57 5
12966522 2003
7
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. 53 62 57 5
12655490 2003
8
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. 53 62 57 5
11896459 2002
9
Preserved speech variants of the Rett syndrome: molecular and clinical analysis. 53 62 57 5
11746022 2001
10
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 53 62 57 5
10508514 1999
11
Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome. 62 57 5
19365833 2009
12
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). 62 57 5
18562141 2009
13
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. 62 57 5
18989701 2009
14
An explanation for another familial case of Rett syndrome: maternal germline mosaicism. 62 57 5
17440498 2007
15
Germline mosaicism for a MECP2 mutation in a man with two Rett daughters. 62 57 5
16965328 2006
16
p.R270X MECP2 mutation and mortality in Rett syndrome. 62 57 5
16077729 2005
17
Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome. 62 57 5
15857422 2005
18
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. 62 57 5
12966523 2003
19
Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. 62 57 5
12746405 2003
20
De novo MECP2 mutation in a 46,XX male patient with Rett syndrome. 62 57 5
12481990 2002
21
Infantile hypotonia as a presentation of Rett syndrome. 62 57 5
12210319 2002
22
MECP2 mutations in Swedish Rett syndrome clusters. 62 57 5
12081725 2002
23
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. 62 57 5
11283202 2001
24
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. 62 57 5
11022934 2000
25
Preserved speech variant is allelic of classic Rett syndrome. 62 57 5
10854091 2000
26
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. 62 57 5
10577905 1999
27
Cortical reflex myoclonus in Rett syndrome. 62 57 5
9546328 1998
28
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. 57 5
11238684 2001
29
[On a unusual brain atrophy syndrome in hyperammonemia in childhood]. 57 5
5300597 1966
30
CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery. 53 62 5
19740913 2009
31
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. 53 62 5
19793311 2009
32
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. 53 62 5
19241098 2009
33
Spectrum of MECP2 mutations in New Zealand Rett syndrome patients. 53 62 5
19652677 2009
34
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 53 62 5
19161156 2009
35
[Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients]. 53 62 5
19552836 2009
36
Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome. 53 62 5
18842453 2008
37
Key clinical features to identify girls with CDKL5 mutations. 53 62 5
18790821 2008
38
Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo. 53 62 5
18334558 2008
39
Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 53 62 5
18337588 2008
40
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. 53 62 5
17993579 2008
41
MECP2 mutations in Serbian Rett syndrome patients. 53 62 5
17986102 2007
42
Rett syndrome: North American database. 53 62 5
18174548 2007
43
Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. 53 62 5
18174559 2007
44
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 53 62 5
17089071 2007
45
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. 53 62 5
17387578 2007
46
Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. 53 62 5
16813600 2006
47
Deleterious mutations in exon 1 of MECP2 in Rett syndrome. 53 62 5
16829352 2006
48
Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome. 53 62 5
16672765 2006
49
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. 53 62 5
16473305 2006
50
Early onset seizures and Rett-like features associated with mutations in CDKL5. 53 62 5
16015284 2005

Variations for Rett Syndrome

ClinVar genetic disease variations for Rett Syndrome:

5 (show top 50) (show all 692)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDKL5 NM_001323289.2(CDKL5):c.1090G>T (p.Glu364Ter) SNV Pathogenic
189553 rs786204966 GRCh37: X:18622134-18622134
GRCh38: X:18604014-18604014
2 CDKL5 NM_001323289.2(CDKL5):c.1341del (p.Phe447fs) DEL Pathogenic
189555 rs786204968 GRCh37: X:18622385-18622385
GRCh38: X:18604265-18604265
3 CDKL5 NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter) SNV Pathogenic
189556 rs786204969 GRCh37: X:18622419-18622419
GRCh38: X:18604299-18604299
4 CDKL5 NM_001323289.2(CDKL5):c.1417dup (p.Ile473fs) DUP Pathogenic
189557 rs786204970 GRCh37: X:18622459-18622460
GRCh38: X:18604339-18604340
5 CDKL5 NM_001323289.2(CDKL5):c.145+2T>C SNV Pathogenic
156074 rs267608430 GRCh37: X:18582644-18582644
GRCh38: X:18564524-18564524
6 CDKL5 NM_001323289.2(CDKL5):c.1550del (p.Phe517fs) DEL Pathogenic
189560 rs786204972 GRCh37: X:18622593-18622593
GRCh38: X:18604473-18604473
7 CDKL5 NM_001323289.2(CDKL5):c.1854del (p.Asp618fs) DEL Pathogenic
189567 rs786204975 GRCh37: X:18622898-18622898
GRCh38: X:18604778-18604778
8 CDKL5 NM_003159.2(CDKL5):c.-253_64+?del DEL Pathogenic
189578 GRCh37: X:18443725-18525280
GRCh38: X:18425605-18507160
9 CDKL5 NM_003159.2(CDKL5):c.-253_99+?del DEL Pathogenic
189581 GRCh37: X:18443725-18528974
GRCh38: X:18425605-18510854
10 CDKL5 NM_001323289.2(CDKL5):c.2704C>T (p.Gln902Ter) SNV Pathogenic
189583 rs786204981 GRCh37: X:18646698-18646698
GRCh38: X:18628578-18628578
11 CDKL5 NM_001323289.2(CDKL5):c.283-3_290del DEL Pathogenic
189585 rs786204983 GRCh37: X:18597964-18597974
GRCh38: X:18579844-18579854
12 CDKL5 NM_001323289.2(CDKL5):c.403+1G>A SNV Pathogenic
189586 rs786204984 GRCh37: X:18598089-18598089
GRCh38: X:18579969-18579969
13 CDKL5 NM_001323289.2(CDKL5):c.463+1G>A SNV Pathogenic
156088 rs267608479 GRCh37: X:18600071-18600071
GRCh38: X:18581951-18581951
14 CDKL5 NM_001323289.2(CDKL5):c.464-1G>A SNV Pathogenic
189591 rs786204986 GRCh37: X:18602382-18602382
GRCh38: X:18584262-18584262
15 CDKL5 NM_001323289.2(CDKL5):c.510_511dup (p.Tyr171fs) DUP Pathogenic
189593 rs786204988 GRCh37: X:18602428-18602429
GRCh38: X:18584308-18584309
16 CDKL5 NM_001323289.2(CDKL5):c.660_664dup (p.Thr222fs) DUP Pathogenic
189597 rs786204990 GRCh37: X:18606178-18606179
GRCh38: X:18588058-18588059
17 CDKL5 NM_001323289.2(CDKL5):c.942del (p.Lys314fs) DEL Pathogenic
189600 rs786204992 GRCh37: X:18616695-18616695
GRCh38: X:18598575-18598575
18 MECP2 NM_004992.3(MECP2):c.(?_1169)_*(1_?)del DEL Pathogenic
189630 GRCh37: X:153295817-153296110
GRCh38: X:154030366-154030659
19 MECP2 NM_001110792.2(MECP2):c.1165_*568delinsCCGTGG (p.Lys389fs) INDEL Pathogenic
189656 rs1557134378 GRCh37: X:153295250-153296150
GRCh38: X:154029799-154030699
20 MECP2 NM_004992.3(MECP2):c.(?_1336)_*(1_?)del DEL Pathogenic
189672 GRCh37: X:153295817-153295943
GRCh38: X:154030366-154030492
21 MECP2 NM_004992.3:c.(?_184)_(1065_?)del DEL Pathogenic
189675 GRCh37:
GRCh38:
22 MECP2 NM_004992.3:c.(?_27)_(378_1461)del DEL Pathogenic
189681 GRCh37:
GRCh38:
23 MECP2 NM_004992.3:c.(?_27)_(*1_?)del DEL Pathogenic
189682 GRCh37:
GRCh38:
24 MECP2 NM_004992.3:c.(?_27)_(*8554_?)del DEL Pathogenic
189683 GRCh37:
GRCh38:
25 MECP2 NM_004992.3:c.(?_27)_(1018_?)del DEL Pathogenic
189684 GRCh37:
GRCh38:
26 MECP2 NM_004992.3:c.(?_27)_(1021_?)del DEL Pathogenic
189685 GRCh37:
GRCh38:
27 MECP2 NM_004992.3:c.(?_27)_(1029_?)del DEL Pathogenic
189686 GRCh37:
GRCh38:
28 MECP2 NM_004992.3:c.(?_27)_(1170_?)del DEL Pathogenic
189687 GRCh37:
GRCh38:
29 MECP2 NM_004992.3:c.(?_27)_(1185_?)del DEL Pathogenic
189688 GRCh37:
GRCh38:
30 MECP2 NM_004992.3:c.(?_27)_(1337_?)del DEL Pathogenic
189689 GRCh37:
GRCh38:
31 MECP2 NM_004992.3:c.(?_27)_(1397_?)del DEL Pathogenic
189690 GRCh37:
GRCh38:
32 MECP2 NM_004992.3:c.(?_27)_(378_?)del DEL Pathogenic
189692 GRCh37:
GRCh38:
33 MECP2 NM_004992.3(MECP2):c.27-4722_*739delins43 INDEL Pathogenic
189696 GRCh37: X:153295079-153302730
GRCh38: X:154029628-154037279
34 MECP2 NM_004992.3:c.343_1182del DEL Pathogenic
189702 GRCh37:
GRCh38:
35 MECP2 NM_004992.3(MECP2):c.(?_378)_*(1_?)del DEL Pathogenic
189703 GRCh37: X:153295817-153296901
GRCh38: X:154030366-154031450
36 MECP2 NM_004992.3(MECP2):c.481_987del507ins8 INDEL Pathogenic
189710 GRCh37: X:153296292-153296798
GRCh38: X:154030841-154031347
37 MECP2 NM_004992.3(MECP2):c.820_1153del334ins67 (p.?) INDEL Pathogenic
189723 GRCh37: X:153296126-153296459
GRCh38: X:154030675-154031008
38 MECP2 NM_004992.3(MECP2):c.830_831ins23 (p.?) INSERT Pathogenic
189725 GRCh37: X:153296448-153296449
GRCh38: X:154030997-154030998
39 CDKL5 NM_001323289.2(CDKL5):c.1311dup (p.Ser438fs) DUP Pathogenic
143774 rs267608623 GRCh37: X:18622354-18622355
GRCh38: X:18604234-18604235
40 CDKL5 NM_001323289.2(CDKL5):c.1708G>T (p.Glu570Ter) SNV Pathogenic
143782 rs267608644 GRCh37: X:18622752-18622752
GRCh38: X:18604632-18604632
41 CDKL5 NM_001323289.2(CDKL5):c.1892_1893dup (p.Gly632Ter) DUP Pathogenic
143787 rs267608646 GRCh37: X:18622934-18622935
GRCh38: X:18604814-18604815
42 CDKL5 NM_003159.2(CDKL5):c.2045_2046delAGins18 (p.?) INDEL Pathogenic
143794 GRCh37: X:18627031-18627032
GRCh38: X:18608911-18608912
43 CDKL5 NM_001323289.2(CDKL5):c.215T>A (p.Ile72Asn) SNV Pathogenic
143797 rs62641235 GRCh37: X:18593543-18593543
GRCh38: X:18575423-18575423
44 CDKL5 NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) SNV Pathogenic
11500 rs122460158 GRCh37: X:18646494-18646494
GRCh38: X:18628374-18628374
45 CDKL5 NM_001323289.2(CDKL5):c.352C>T (p.Gln118Ter) SNV Pathogenic
143817 rs267608453 GRCh37: X:18598037-18598037
GRCh38: X:18579917-18579917
46 CDKL5 NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) SNV Pathogenic
11496 rs122460157 GRCh37: X:18600062-18600062
GRCh38: X:18581942-18581942
47 CDKL5 NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser) SNV Pathogenic
11497 rs61749700 GRCh37: X:18602444-18602444
GRCh38: X:18584324-18584324
48 CDKL5 NM_001323289.2(CDKL5):c.607G>T (p.Glu203Ter) SNV Pathogenic
143829 rs267608505 GRCh37: X:18606126-18606126
GRCh38: X:18588006-18588006
49 CDKL5 NM_001323289.2(CDKL5):c.838_847del (p.Asp281fs) DEL Pathogenic
143834 rs61750250 GRCh37: X:18616592-18616601
GRCh38: X:18598472-18598481
50 MECP2 NC_000023.10:g.(?_153287264)_(153363188_?)dup DUP Pathogenic
417368 GRCh37: X:153287264-153363188
GRCh38:

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:

6 (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 19)
# Super pathways Score Top Affiliating Genes
1 13.6 BDNF CREB1 GABBR2 HDAC1 NCOR1 RHOBTB2
2
Show member pathways
12.81 TBL1XR1 SMC1A NCOR1 HDAC1 CREB1
3 12.66 SIN3A NCOR1 HDAC1 CREB1 BDNF
4 12.41 CREB1 GABBR2 GRIA3 MECP2 SCN1A STXBP1
5 12.21 TBL1XR1 SMC1A SIN3A NCOR1 MECP2 HDAC1
6
Show member pathways
12.11 BDNF CREB1 FOXG1 HDAC1 MECP2 NCOR1
7 11.96 MECP2 HDAC1 CREB1 BDNF
8
Show member pathways
11.86 MECP2 CREB1 BDNF
9 11.67 SMC1A SIN3A HDAC1
10 11.53 UBE3A SIN3A HDAC1
11 11.52 SIN3A NCOR1 HDAC1 FOXG1 CREB1
12 11.52 UBE3A SIN3A NCOR1 MECP2 HDAC1 GRIA3
13 11.46 UBE3A DLX5 BDNF
14
Show member pathways
11.45 UBE3A CREB1 BDNF
15
Show member pathways
11.42 TBL1XR1 NCOR1 HDAC1
16
Show member pathways
11.39 SIN3A NCOR1 MECP2 HDAC1
17 11.04 TBL1XR1 STXBP1 SMC1A SCN1A RHOBTB2 NCOR1
18 10.76 SIN3A MECP2 HDAC1
19 10.74 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 transcription repressor complex GO:0017053 9.56 TBL1XR1 SIN3A NCOR1 HDAC1
2 histone deacetylase complex GO:0000118 9.23 TBL1XR1 SIN3A NCOR1 HDAC1

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

# Name GO ID Score Top Affiliating Genes
1 histone deacetylation GO:0016575 9.63 TBL1XR1 SIN3A HDAC1
2 modulation of chemical synaptic transmission GO:0050804 9.43 UBE3A NTNG1 CDKL5 BDNF
3 rhythmic process GO:0048511 9.17 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 10.03 CREB1 DLX5 FOXG1 HDAC1 MBD4 MECP2
2 RNA polymerase II-specific DNA-binding transcription factor binding GO:0061629 9.86 SIN3A NCOR1 HDAC1 CREB1
3 protein N-terminus binding GO:0047485 9.56 TBL1XR1 STXBP1 MECP2 HDAC1
4 transcription corepressor activity GO:0003714 9.32 TBL1XR1 SIN3A NCOR1 MECP2 HDAC1

Sources for Rett Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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