RTT
MCID: RTT002
MIFTS: 82

Rett Syndrome (RTT)

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

Aliases & Classifications for Rett Syndrome

MalaCards integrated aliases for Rett Syndrome:

Name: Rett Syndrome 58 12 77 54 26 55 60 76 38 30 13 56 6 44 45 15 41 74
Atypical Rett Syndrome 54 60 30 6
Rtt 58 26 76
Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use 58 54
Rett Syndrome, Atypical 58 74
Rett Syndrome Variant 54 60
Rett's Disorder 12 26
Rett Disorder 26 76
Rts 58 76
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome 26
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use 76
Rett Syndrome, Preserved Speech Variant 58
Rett Syndrome Preserved Speech Variant 76
Rett Syndrome, Zappella Variant 6
Cerebroatrophic Hyperammonemia 12
Rett Syndrome Zappella Variant 76
Rett Like Syndrome 54
Rett's Syndrome 26
Atypical Rtt 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
rett syndrome:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Rett Syndrome

NIH Rare Diseases : 54 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 pervasive developmental disorder and epilepsy, 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 Guaifenesin and Donepezil have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and bone, and related phenotypes are intellectual disability and seizures

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

Genetics Home Reference : 26 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).

OMIM : 58 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)

MedlinePlus : 44 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 : 55 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.

UniProtKB/Swiss-Prot : 76 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 : 77 Rett syndrome (RTT) is a genetic brain disorder which typically becomes apparent after 6 to 18 months of... 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 532)
# Related Disease Score Top Affiliating Genes
1 pervasive developmental disorder 32.7 BDNF CDKL5 FOXG1 MECP2 UBE3A
2 epilepsy 31.2 BDNF CDKL5 MECP2 STXBP1 UBE3A
3 encephalopathy 31.0 CDKL5 MECP2 STXBP1
4 angelman syndrome 30.3 CDKL5 MBD4 MECP2 UBE3A
5 west syndrome 30.0 CDKL5 FOXG1 MECP2 STXBP1 TH
6 microcephaly 30.0 CDKL5 FOXG1 MECP2 STXBP1 UBE3A
7 rett syndrome, congenital variant 12.7
8 rothmund-thomson syndrome 12.2
9 epileptic encephalopathy, early infantile, 2 12.2
10 atypical teratoid rhabdoid tumor 11.9
11 chromosome 16p13.3 deletion syndrome, proximal 11.9
12 rhabdoid cancer 11.7
13 encephalopathy, neonatal severe, due to mecp2 mutations 11.6
14 mental retardation, x-linked, syndromic 13 11.4
15 neurodevelopmental disorder with poor language and loss of hand skills 11.4
16 dengue disease 11.4
17 rapadilino syndrome 11.3
18 coffin-lowry syndrome 11.1
19 asperger syndrome 11.1
20 cdkl5 deficiency disorder 11.1
21 childhood apraxia of speech 11.1
22 rubinstein-taybi syndrome 1 11.0
23 rhabdoid tumor predisposition syndrome 1 11.0
24 congenital toxoplasmosis 11.0
25 malaria 10.6
26 autism 10.6
27 leukemia 10.6
28 scoliosis 10.5
29 breast cancer 10.5
30 isolated split hand-split foot malformation 10.5 DLX5 DLX6
31 hepatitis 10.5
32 specific developmental disorder 10.4 BDNF CDKL5 MECP2
33 mental retardation, autosomal dominant 13 10.4 HDAC1 SIN3A
34 neonatal hypoxic and ischemic brain injury 10.4 BDNF TH
35 ocular dominance 10.4 BDNF CHAT CREB1
36 mouth disease 10.4
37 influenza 10.4
38 amnestic disorder 10.4 BDNF CHAT CREB1
39 gait apraxia 10.4 CDKL5 MECP2
40 toxic encephalopathy 10.4 BDNF CREB1 TH
41 baker-gordon syndrome 10.3
42 visual epilepsy 10.3 CDKL5 MECP2 STXBP1 UBE3A
43 hepatitis a 10.3
44 diarrhea 10.3
45 tendinosis 10.3 BDNF CHAT TH
46 myeloid leukemia 10.3
47 acute promyelocytic leukemia 10.3
48 melanoma 10.3
49 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 10.3 DLX5 DLX6
50 sarcoma 10.3

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:

60 33 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001250
3 spasticity 60 33 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001257
4 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002353
5 dysphasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002357
6 developmental regression 60 33 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0002376
7 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
8 thick vermilion border 60 33 hallmark (90%) Very frequent (99-80%) HP:0012471
9 microcephaly 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000252
10 gastroesophageal reflux 60 33 hallmark (90%) Very frequent (99-80%) HP:0002020
11 stereotypy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000733
12 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
13 abnormality of movement 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100022
14 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
15 ventriculomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002119
16 cerebral cortical atrophy 60 33 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0002120
17 aplasia/hypoplasia of the cerebellum 60 33 hallmark (90%) Very frequent (99-80%) HP:0007360
18 underdeveloped nasal alae 60 33 hallmark (90%) Very frequent (99-80%) HP:0000430
19 wide mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000154
20 clinodactyly of the 5th finger 60 33 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0004209
21 abnormality of the metacarpal bones 60 33 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001163
22 apraxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002186
23 nephrolithiasis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000787
24 fine hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002213
25 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
26 wide nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000445
27 abnormality of the antitragus 60 33 hallmark (90%) Very frequent (99-80%) HP:0009896
28 abnormal fingernail morphology 33 hallmark (90%) HP:0001231
29 depressivity 60 33 frequent (33%) Frequent (79-30%) HP:0000716
30 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
31 respiratory insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093
32 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
33 abnormality of the dentition 60 33 frequent (33%) Frequent (79-30%) HP:0000164
34 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
35 autism 60 33 frequent (33%) Frequent (79-30%) HP:0000717
36 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
37 muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001324
38 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
39 tetraplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002445
40 self-injurious behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0100716
41 macrotia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000400
42 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
43 joint stiffness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001387
44 decreased muscle mass 60 33 occasional (7.5%) Occasional (29-5%) HP:0003199
45 acrocyanosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001063
46 arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011675
47 hemiplegia/hemiparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004374
48 arthrogryposis multiplex congenita 60 33 occasional (7.5%) Occasional (29-5%) HP:0002804
49 narrow foot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001786
50 arnold-chiari malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002308

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
spasticity
gait ataxia
dystonia
truncal ataxia
more
Neurologic Behavioral Psychiatric Manifestations:
sleep disturbance
bruxism
breath holding
autistic behaviors
hand stereotypies (e.g., hand wringing)

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

Growth Weight:
cachexia

Cardiovascular Heart:
prolonged qtc interval
t-wave abnormalities

Muscle Soft Tissue:
muscle wasting

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux

Skeletal Spine:
scoliosis
kyphosis

Growth Height:
short stature

Respiratory:
intermittent hyperventilation
periodic apnea while awake
breath holding

Head And Neck Teeth:
bruxism

Skeletal Feet:
small feet
cold feet
vasomotor disturbance

Clinical features from OMIM:

312750

UMLS symptoms related to Rett Syndrome:


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

GenomeRNAi Phenotypes related to Rett Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased TP53 mRNA expression GR00389-S-6 8.62 HDAC1 SIN3A

MGI Mouse Phenotypes related to Rett Syndrome:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.36 BDNF CDKL5 CHAT CREB1 DLX5 FOXG1
2 mortality/aging MP:0010768 10.33 BDNF CHAT CREB1 DLX5 DLX6 FOXG1
3 growth/size/body region MP:0005378 10.27 BDNF CHAT CREB1 DLX5 DLX6 FOXG1
4 cellular MP:0005384 10.26 BDNF CREB1 DLX5 FOXG1 HDAC1 JMJD1C
5 nervous system MP:0003631 10.24 BDNF CDKL5 CHAT CREB1 DLX5 DLX6
6 cardiovascular system MP:0005385 10.19 CHAT CREB1 DLX5 FOXG1 HDAC1 MBD4
7 endocrine/exocrine gland MP:0005379 10.13 BDNF CREB1 FOXG1 HDAC1 JMJD1C MECP2
8 integument MP:0010771 10.13 BDNF DLX5 DLX6 FOXG1 GABBR2 HDAC1
9 embryo MP:0005380 10.1 CREB1 DLX5 DLX6 FOXG1 HDAC1 MBD4
10 craniofacial MP:0005382 10.05 BDNF DLX5 DLX6 FOXG1 HDAC1 MBD4
11 no phenotypic analysis MP:0003012 9.92 BDNF CDKL5 HDAC1 MECP2 NCOR1 STXBP1
12 normal MP:0002873 9.91 BDNF CHAT CREB1 DLX5 FOXG1 HDAC1
13 respiratory system MP:0005388 9.81 BDNF CHAT CREB1 DLX5 DLX6 FOXG1
14 vision/eye MP:0005391 9.28 BDNF CDKL5 CHAT FOXG1 HDAC1 JMJD1C
15 taste/olfaction MP:0005394 9.26 BDNF CDKL5 DLX5 FOXG1

Drugs & Therapeutics for Rett Syndrome

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

(show top 50) (show all 102)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Guaifenesin Approved, Investigational, Vet_approved Phase 3,Phase 2,Not Applicable 93-14-1 3516
2
Donepezil Approved Phase 3,Not Applicable 120014-06-4 3152
3
Dextromethorphan Approved Phase 3,Phase 2,Not Applicable 125-71-3 5362449 5360696
4
Ethanol Approved Phase 3,Phase 2 64-17-5 702
5 Strawberry Approved Phase 3,Phase 2
6
Dopamine Approved Phase 3 62-31-7, 51-61-6 681
7
Risperidone Approved, Investigational Phase 3 106266-06-2 5073
8
Stiripentol Approved Phase 3 49763-96-4
9
Benzocaine Approved, Investigational Phase 3,Phase 2 1994-09-7, 94-09-7 2337
10
tannic acid Approved Phase 3,Phase 2 1401-55-4
11
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
12
Glutamic Acid Approved, Nutraceutical Phase 3,Phase 2 56-86-0 33032
13
Beta carotene Approved, Nutraceutical Phase 3 7235-40-7
14 Chlorpheniramine, phenylpropanolamine drug combination Phase 3,Phase 2,Not Applicable
15 Neurotransmitter Agents Phase 3,Phase 2,Phase 1,Not Applicable
16 Cholinesterase Inhibitors Phase 3,Not Applicable
17 Antitussive Agents Phase 3,Phase 2,Not Applicable
18 Excitatory Amino Acid Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
19 Respiratory System Agents Phase 3,Phase 2,Not Applicable
20 Nootropic Agents Phase 3,Not Applicable
21 Excitatory Amino Acids Phase 3,Phase 2,Phase 1,Not Applicable
22 Cholinergic Agents Phase 3,Not Applicable
23 Anticonvulsants Phase 3,Phase 2,Not Applicable
24 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
25 Epidiolex Phase 3,Phase 2,Phase 1
26 Central Nervous System Depressants Phase 3,Phase 2,Phase 1
27 Serotonin Antagonists Phase 3
28 Dopamine Antagonists Phase 3
29 Dopamine Agents Phase 3
30 Tranquilizing Agents Phase 3
31 Psychotropic Drugs Phase 3,Phase 2
32 Antipsychotic Agents Phase 3
33 Serotonin Agents Phase 3,Phase 1,Phase 2
34 Serotonin Uptake Inhibitors Phase 3,Phase 1,Phase 2
35 Neurotransmitter Uptake Inhibitors Phase 3,Phase 2,Phase 1
36 Carotenoids Phase 3
37 GABA Agents Phase 3
38 GABA-A Receptor Agonists Phase 3
39 Anti-Anxiety Agents Phase 3
40 GABA Agonists Phase 3
41
Serotonin Investigational, Nutraceutical Phase 3,Phase 1,Phase 2,Not Applicable 50-67-9 5202
42
Zinc Approved, Investigational Phase 2 7440-66-6 32051
43
Mecasermin Approved, Investigational Phase 2,Phase 1 68562-41-4
44
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
45
Desipramine Approved, Investigational Phase 2 50-47-5 2995
46
Verapamil Approved Phase 2 52-53-9 2520
47
Ketamine Approved, Vet_approved Phase 2,Phase 1 6740-88-1 3821
48
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
49 Immunologic Factors Phase 1, Phase 2,Phase 2
50 Immunosuppressive Agents Phase 1, Phase 2,Phase 2

Interventional clinical trials:

(show top 50) (show all 75)
# Name Status NCT ID Phase Drugs
1 Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome Unknown status NCT00069550 Phase 3 dextromethorphan;donepezil hydrochloride
2 GWPCARE2 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Unknown status NCT02224703 Phase 3 GWP42003-P;Placebo Control
3 A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD) Completed NCT00261508 Phase 3 risperidone
4 A Two-Part Study to Investigate the Dose-Ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children ≥2 Years Old and Young Adults With Dravet Syndrome Completed NCT02926898 Phase 3 ZX008 - 0.2 mg/kg/day;ZX008 - 0.4 mg/kg/day;ZX008 - 20 mg/day maximum dose;Matching Placebo
5 Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet Syndrome (GWPCARE1) Completed NCT02091375 Phase 3 GWP42003-P 20 mg/kg/day Dose;Placebo control
6 A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Recruiting NCT02826863 Phase 3 ZX008 - 0.8 mg/kg/day;ZX008 - 0.2 mg/kg/day;Placebo
7 Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms Active, not recruiting NCT02790034 Phase 2, Phase 3 Sarizotan;Placebo
8 A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) in Children and Young Adults With Dravet Syndrome Active, not recruiting NCT02682927 Phase 3 ZX008 (Fenfluramine Hydrochloride);Matching Placebo
9 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT02823145 Phase 3 ZX008 (Fenfluramine Hydrochloride)
10 A Study to Assess the Usability of the Embrace Seizure Detection Watch in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT03299842 Phase 3 ZX008 (Fenfluramine Hydrochloride)
11 A Study to Investigate the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution in Children and Adults With Epileptic Encephalopathy Including Dravet Syndrome and Lennox-Gastaut Syndrome Enrolling by invitation NCT03936777 Phase 3 ZX008 (Fenfluramine Hydrochloride)
12 Efficacy and Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome Not yet recruiting NCT03848832 Phase 3 GWP42003-P;Placebo
13 Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Terminated NCT02187809 Phase 3 Clobazam
14 Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Participants With Inadequately Controlled Dravet Syndrome Withdrawn NCT02318563 Phase 3 Cannabidiol Oral Solution;Placebo Solution
15 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
16 Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome. Unknown status NCT03059160 Phase 2 Tridecanoic Acid
17 Study to Assess Safety and Efficacy of Fingolimod in Children With Rett Syndrome Completed NCT02061137 Phase 1, Phase 2 fingolimod (FTY720)
18 Phase 2 Study of EPI-743 for Treatment of Rett Syndrome Completed NCT01822249 Phase 2 EPI-743;Placebo
19 Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone) Completed NCT02153723 Phase 2 Glatiramer Acetate
20 Treatment of Rett Syndrome With Recombinant Human IGF-1 Completed NCT01777542 Phase 2 Recombinant Human Insulin Growth Factor 1 (rhIGF-1);Placebo
21 Pharmacological Treatment of Rett Syndrome With Statins Completed NCT02563860 Phase 2 Lovastatin
22 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
23 A Safety Study of NNZ-2566 in Patients With Rett Syndrome Completed NCT01703533 Phase 2 NNZ-2566;Placebo
24 A Safety Study of NNZ-2566 in Pediatric Rett Syndrome Completed NCT02715115 Phase 2 NNZ-2566;Placebo
25 Placebo Controlled Trial of Dextromethorphan in Rett Syndrome Completed NCT01520363 Phase 2 dextromethorphan;placebo
26 A Dose-ranging Pharmacokinetics and Safety Study of GWP42003-P in Children With Dravet Syndrome (GWPCARE1) Completed NCT02091206 Phase 2 GWP42003-P 5 mg/kg/day Dose;Placebo control;GWP42003-P 10 mg/kg/day Dose;GWP42003-P 20 mg/kg/day Dose
27 Verapamil as Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
28 A Study to Evaluate Ketamine for the Treatment of Rett Syndrome Recruiting NCT03633058 Phase 2 Ketamine
29 Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin Recruiting NCT02696044 Phase 2 triheptanoin
30 Study of ANAVEX2-73 in Patients With Rett Syndrome Recruiting NCT03758924 Phase 2 ANAVEX2-73;Placebo
31 ANAVEX2-73 Study in Patients With Rett Syndrome Recruiting NCT03941444 Phase 2 ANAVEX2-73;Placebos
32 A Multicenter, Open-label, Pilot Study of TAK-935 (OV935) in Participants With 15Q Duplication Syndrome or Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Disorder (ARCADE STUDY) Recruiting NCT03694275 Phase 2 TAK-935
33 A Study to Assess the Safety and Tolerability of ZX008 in Children and Young Adults With DS or LGS Currently Taking CBD Active, not recruiting NCT03467113 Phase 1, Phase 2 ZX008 02 and 0.8 mg/kg/day
34 Trial of Dextromethorphan in Rett Syndrome Terminated NCT00593957 Phase 2 Dextromethorphan;Dextromethorphan
35 An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder Withdrawn NCT02226458 Phase 2 EPI-743
36 An Open Label, Exploratory Study to Investigate the Treatment Effect of Glatiramer Acetate on Girls Woth Rett Syndrome Unknown status NCT02023424 Phase 1 Glatiramer Acetate (Copaxone®)
37 Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection) Completed NCT01253317 Phase 1 rhIGF-1
38 An Exploratory Trial of Ketamine for the Treatment of Rett Syndrome Terminated NCT02562820 Phase 1
39 The Findings of MR Imaging in Rett Syndrome Unknown status NCT02903056
40 'Uptime' Participation Intervention in Girls and Women With Rett Syndrome Completed NCT03848442 Not Applicable
41 Creatine Metabolism in Rett Syndrome Completed NCT01198015
42 Effects of Creatine Supplementation in Rett Syndrome Completed NCT01147575 Not Applicable
43 Metabolic Evaluation of Nutrition in Rett Syndrome Completed NCT00786071
44 The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome Completed NCT00891956
45 Osteoporosis in RETT Syndrome Completed NCT02110797 Not Applicable
46 Functional Abilities in Rett Syndrome Completed NCT00630422
47 Genetic and Physical Characteristics of Rett Syndrome Completed NCT00299312
48 New Genes Involved in Molecular Etiology of Rett Syndrome Through DNA Microarray Comparative Genomic Hybridization Completed NCT02885090 Not Applicable
49 Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW Completed NCT02670694
50 Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome Completed NCT00004773

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 30 MECP2
2 Atypical Rett Syndrome 30

Anatomical Context for Rett Syndrome

MalaCards organs/tissues related to Rett Syndrome:

42
Brain, Eye, Bone, Testes, Thyroid, Myeloid, Prostate

Publications for Rett Syndrome

Articles related to Rett Syndrome:

(show top 50) (show all 1962)
# Title Authors Year
1
Biliary Tract Disease in Girls and Young Women with Rett Syndrome. ( 30664568 )
2019
2
Epilepsy in Rett syndrome: can seizures play an encephalopathic effect in this disorder? ( 30961341 )
2019
3
Epilepsy and genetic in Rett syndrome: A review. ( 30929312 )
2019
4
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements. ( 30417326 )
2019
5
Psychomotor Dysfunction in Rett Syndrome: Insights into the Neurochemical and Circuit Roots. ( 30430747 )
2019
6
Attentional shifting and disengagement in Rett syndrome. ( 30688490 )
2019
7
13-HODE, 9-HODE and ALOX15 as potential players in Rett syndrome OxInflammation. ( 30743046 )
2019
8
Antiglycative Activity and RAGE Expression in Rett Syndrome. ( 30781346 )
2019
9
Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort. ( 30783265 )
2019
10
Treating Rett syndrome: from mouse models to human therapies. ( 30820643 )
2019
11
Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female. ( 30829465 )
2019
12
Regression in Rett syndrome: Developmental pathways to its onset. ( 30832924 )
2019
13
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing. ( 30842224 )
2019
14
Beyond Pathway Analysis: Identification of Active Subnetworks in Rett Syndrome. ( 30847002 )
2019
15
De novo mosaic MECP2 mutation in a female with Rett syndrome. ( 30847208 )
2019
16
Parents' perception of health care services for girls with Rett syndrome. ( 30870585 )
2019
17
Attention measures of patients with Rett Syndrome need to overcome the challenges in evaluating the oculomotor function using electronystagmography. ( 30876649 )
2019
18
How reconstructive surgery combined with physiotherapy for a painful nontraumatic patellar dislocation enabled a woman with Rett syndrome to become pain free and remain physically active: A case report. ( 30899490 )
2019
19
A Coordinated Attack: Rett Syndrome Therapeutic Development. ( 30905360 )
2019
20
Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes. ( 30907210 )
2019
21
Reduced computational modeling of Kölliker-Fuse contributions to breathing patterns in Rett syndrome. ( 30908648 )
2019
22
Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome. ( 30918097 )
2019
23
Auditory sensory memory span for duration is severely curtailed in females with Rett syndrome. ( 30967526 )
2019
24
A clinical case-control comparison of epidermal innervation density in Rett syndrome. ( 30980517 )
2019
25
Tapping-lips aggravated interictal bilateral discharges in EEG in the patients with Rett syndrome: a case report. ( 31043160 )
2019
26
Facilitators and Barriers of Participation in "Uptime" Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and Professionals. ( 30304998 )
2019
27
Polysomnographic findings in Rett syndrome. ( 30262236 )
2019
28
Choline Rescues Behavioural Deficits in a Mouse Model of Rett Syndrome by Modulating Neuronal Plasticity. ( 30220058 )
2019
29
Behavioral profiles in Rett syndrome: Data from the natural history study. ( 30217666 )
2019
30
Bone status in relation to ambulatory performance in girls with Rett syndrome: a 10-year longitudinal study. ( 30188498 )
2019
31
Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder. ( 30151799 )
2019
32
Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome. ( 28969435 )
2019
33
Rett syndrome before regression: a time window of overlooked opportunities for diagnosis and intervention. ( 31108160 )
2019
34
The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome. ( 31105003 )
2019
35
Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome. ( 31074665 )
2019
36
Hand stereotypies: Lessons from the Rett Syndrome Natural History Study. ( 31053667 )
2019
37
A New Scale to Evaluate Motor Function in Rett Syndrome: Validation and Psychometric Properties. ( 31047758 )
2019
38
The effectiveness of music therapy for individuals with Rett syndrome and their families. ( 30670340 )
2019
39
Rett syndrome: Teenagers' and young adults' activities, usage of time and responses during an ordinary week - a diary study. ( 30663472 )
2019
40
Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder. ( 30649225 )
2019
41
The cost of Rett syndrome. ( 30644545 )
2019
42
Disturbed redox homeostasis and oxidative stress: Potential players in the developmental regression in Rett syndrome. ( 30639673 )
2019
43
Spoken word processing in Rett syndrome: Evidence from event-related potentials. ( 30630072 )
2019
44
The Treatment of Hypersalivation in Rett Syndrome with Botulinum Toxin: Efficacy and Clinical Implications. ( 30617838 )
2019
45
Early Vocal Development in Autism Spectrum Disorder, Rett Syndrome, and Fragile X Syndrome: Insights from Studies using Retrospective Video Analysis. ( 29774230 )
2018
46
Response to name and its value for the early detection of developmental disorders: Insights from autism spectrum disorder, Rett syndrome, and fragile X syndrome. A perspectives paper. ( 29655507 )
2018
47
Annual Injection of Zoledronic Acid Improves Bone Status in Children with Cerebral Palsy and Rett Syndrome. ( 30554334 )
2018
48
Correlation Between Dysphagia and Malocclusion in Rett Syndrome: A preliminary study. ( 30988968 )
2018
49
Anti-MOG antibody encephalitis mimicking neurological deterioration in a case of Rett syndrome with MECP2 mutation. ( 30227938 )
2018
50
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results. ( 29961512 )
2018

Variations for Rett Syndrome

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

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

ClinVar genetic disease variations for Rett Syndrome:

6 (show top 50) (show all 1194)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDKL5 NM_003159.2(CDKL5): c.455G> T (p.Cys152Phe) single nucleotide variant Pathogenic rs122460157 GRCh37 Chromosome X, 18600062: 18600062
2 CDKL5 NM_003159.2(CDKL5): c.455G> T (p.Cys152Phe) single nucleotide variant Pathogenic rs122460157 GRCh38 Chromosome X, 18581942: 18581942
3 CDKL5 NM_003159.2(CDKL5): c.525A> T (p.Arg175Ser) single nucleotide variant Pathogenic rs61749700 GRCh37 Chromosome X, 18602444: 18602444
4 CDKL5 NM_003159.2(CDKL5): c.525A> T (p.Arg175Ser) single nucleotide variant Pathogenic rs61749700 GRCh38 Chromosome X, 18584324: 18584324
5 CDKL5 NM_003159.2(CDKL5): c.2500C> T (p.Gln834Ter) single nucleotide variant Pathogenic rs122460158 GRCh37 Chromosome X, 18646494: 18646494
6 CDKL5 NM_003159.2(CDKL5): c.2500C> T (p.Gln834Ter) single nucleotide variant Pathogenic rs122460158 GRCh38 Chromosome X, 18628374: 18628374
7 CDKL5 NM_003159.2(CDKL5): c.119C> T (p.Ala40Val) single nucleotide variant Pathogenic rs122460159 GRCh37 Chromosome X, 18582616: 18582616
8 CDKL5 NM_003159.2(CDKL5): c.119C> T (p.Ala40Val) single nucleotide variant Pathogenic rs122460159 GRCh38 Chromosome X, 18564496: 18564496
9 CDKL5 NM_003159.2(CDKL5): c.215T> C (p.Ile72Thr) single nucleotide variant Pathogenic rs62641235 GRCh37 Chromosome X, 18593543: 18593543
10 CDKL5 NM_003159.2(CDKL5): c.215T> C (p.Ile72Thr) single nucleotide variant Pathogenic rs62641235 GRCh38 Chromosome X, 18575423: 18575423
11 MECP2 NM_004992.3(MECP2): c.397C> T (p.Arg133Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs28934904 GRCh37 Chromosome X, 153296882: 153296882
12 MECP2 NM_004992.3(MECP2): c.397C> T (p.Arg133Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs28934904 GRCh38 Chromosome X, 154031431: 154031431
13 MECP2 NM_004992.3(MECP2): c.464T> C (p.Phe155Ser) single nucleotide variant Pathogenic rs28934905 GRCh37 Chromosome X, 153296815: 153296815
14 MECP2 NM_004992.3(MECP2): c.464T> C (p.Phe155Ser) single nucleotide variant Pathogenic rs28934905 GRCh38 Chromosome X, 154031364: 154031364
15 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh37 Chromosome X, 153296806: 153296806
16 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh38 Chromosome X, 154031355: 154031355
17 MECP2 MECP2, 1-BP DEL, 806G deletion Pathogenic
18 MECP2 MECP2, 44-BP DEL, NT1152 deletion Pathogenic
19 MECP2 NM_004992.3(MECP2): c.316C> T (p.Arg106Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28934907 GRCh37 Chromosome X, 153297719: 153297719
20 MECP2 NM_004992.3(MECP2): c.316C> T (p.Arg106Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28934907 GRCh38 Chromosome X, 154032268: 154032268
21 MECP2 NM_004992.3(MECP2): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs61750240 GRCh37 Chromosome X, 153296471: 153296471
22 MECP2 NM_004992.3(MECP2): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs61750240 GRCh38 Chromosome X, 154031020: 154031020
23 MECP2 MECP2, IVS2AS, A-G, -2 single nucleotide variant Pathogenic
24 MECP2 NM_004992.3(MECP2): c.1180G> T (p.Glu394Ter) single nucleotide variant Pathogenic rs63094662 GRCh37 Chromosome X, 153296099: 153296099
25 MECP2 NM_004992.3(MECP2): c.1180G> T (p.Glu394Ter) single nucleotide variant Pathogenic rs63094662 GRCh38 Chromosome X, 154030648: 154030648
26 MECP2 NM_004992.3(MECP2): c.167_168delCC (p.Pro56Argfs) deletion Pathogenic rs267608434 GRCh37 Chromosome X, 153297867: 153297868
27 MECP2 NM_004992.3(MECP2): c.167_168delCC (p.Pro56Argfs) deletion Pathogenic rs267608434 GRCh38 Chromosome X, 154032416: 154032417
28 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh37 Chromosome X, 153296399: 153296399
29 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh38 Chromosome X, 154030948: 154030948
30 MECP2 MECP2, 41-BP DEL, NT1157 deletion Pathogenic,risk factor
31 MECP2 MECP2, 41-BP DEL, NT1159 deletion Pathogenic
32 MECP2 MECP2, 44-BP DEL, NT1159 deletion Pathogenic
33 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh37 Chromosome X, 153296860: 153296860
34 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh38 Chromosome X, 154031409: 154031409
35 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh37 Chromosome X, 153296363: 153296363
36 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh38 Chromosome X, 154030912: 154030912
37 MECP2 MECP2, 1-BP DEL, 76C deletion Pathogenic
38 MECP2 NM_004992.3(MECP2): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs61748421 GRCh37 Chromosome X, 153296777: 153296777
39 MECP2 NM_004992.3(MECP2): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs61748421 GRCh38 Chromosome X, 154031326: 154031326
40 MECP2 NM_004992.3(MECP2): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61749721 GRCh37 Chromosome X, 153296516: 153296516
41 MECP2 NM_004992.3(MECP2): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61749721 GRCh38 Chromosome X, 154031065: 154031065
42 MECP2 MECP2, 52-BP DEL deletion Pathogenic
43 MECP2 NM_004992.3(MECP2): c.423C> G (p.Tyr141Ter) single nucleotide variant Pathogenic rs61748396 GRCh37 Chromosome X, 153296856: 153296856
44 MECP2 NM_004992.3(MECP2): c.423C> G (p.Tyr141Ter) single nucleotide variant Pathogenic rs61748396 GRCh38 Chromosome X, 154031405: 154031405
45 MECP2 NM_004992.3(MECP2): c.1363G> T (p.Glu455Ter) single nucleotide variant Pathogenic rs104894864 GRCh37 Chromosome X, 153295916: 153295916
46 MECP2 NM_004992.3(MECP2): c.1363G> T (p.Glu455Ter) single nucleotide variant Pathogenic rs104894864 GRCh38 Chromosome X, 154030465: 154030465
47 MECP2 NM_004992.3(MECP2): c.298C> G (p.Leu100Val) single nucleotide variant Pathogenic rs28935168 GRCh37 Chromosome X, 153297737: 153297737
48 MECP2 NM_004992.3(MECP2): c.298C> G (p.Leu100Val) single nucleotide variant Pathogenic rs28935168 GRCh38 Chromosome X, 154032286: 154032286
49 MECP2 MECP2, 11-BP DEL, EX1 deletion Pathogenic
50 MECP2 NM_004992.3(MECP2): c.674C> T (p.Pro225Leu) single nucleotide variant Pathogenic rs61749715 GRCh37 Chromosome X, 153296605: 153296605

Copy number variations for Rett Syndrome from CNVD:

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

Expression for Rett Syndrome

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

Pathways for Rett Syndrome

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

(show all 19)
# Super pathways Score Top Affiliating Genes
1 12.36 CREB1 GABBR2 MECP2 STXBP1 TH
2 12.24 HDAC1 MECP2 NCOR1 SIN3A
3
Show member pathways
12.16 FOXG1 HDAC1 NCOR1 SIN3A
5 12.03 HDAC1 JMJD1C NCOR1 SIN3A
6 11.81 HDAC1 NCOR1 SIN3A
7
Show member pathways
11.77 BDNF CREB1 HDAC1 TH
8 11.65 BDNF CHAT CREB1 HDAC1 MECP2 TH
9 11.61 CREB1 HDAC1 NCOR1 SIN3A UBE3A
10 11.6 BDNF CHAT TH
11 11.49 HDAC1 SIN3A UBE3A
12 11.47 HDAC1 NCOR1 SIN3A
13 11.44 CREB1 FOXG1 HDAC1 NCOR1 SIN3A
14
Show member pathways
11.39 HDAC1 MECP2 NCOR1 SIN3A
15 11.07 BDNF CREB1 DLX5 DLX6 HDAC1 MECP2
16
Show member pathways
10.93 CHAT TH
17 10.88 CREB1 TH
18 10.7 BDNF CREB1
19 10.63 CHAT TH

GO Terms for Rett Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.62 CREB1 DLX5 HDAC1 NCOR1
2 transcriptional repressor complex GO:0017053 9.43 HDAC1 NCOR1 SIN3A
3 Sin3 complex GO:0016580 9.13 HDAC1 NCOR1 SIN3A
4 chromatin GO:0000785 9.02 HDAC1 JMJD1C MBD4 MECP2 SIN3A
5 nucleus GO:0005634 10.03 CDKL5 CHAT CREB1 DLX5 DLX6 FOXG1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.8 FOXG1 HDAC1 MECP2 NCOR1 SIN3A
2 response to estradiol GO:0032355 9.63 MBD4 STXBP1 TH
3 axonogenesis GO:0007409 9.5 CREB1 DLX5 NTNG1
4 head development GO:0060322 9.49 DLX5 DLX6
5 negative regulation of myotube differentiation GO:0010832 9.48 BDNF HDAC1
6 negative regulation of androgen receptor signaling pathway GO:0060766 9.43 HDAC1 NCOR1
7 neurotransmitter biosynthetic process GO:0042136 9.37 CHAT TH
8 circadian rhythm GO:0007623 9.33 CREB1 HDAC1 NCOR1
9 protein deacetylation GO:0006476 9.26 HDAC1 SIN3A
10 rhythmic process GO:0048511 9.26 CREB1 HDAC1 SIN3A UBE3A
11 memory GO:0007613 8.92 BDNF CREB1 MECP2 TH
12 regulation of transcription, DNA-templated GO:0006355 10.05 CREB1 DLX5 DLX6 FOXG1 JMJD1C MECP2

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.88 CREB1 DLX6 FOXG1 HDAC1 MECP2 SIN3A
2 sequence-specific DNA binding GO:0043565 9.85 CREB1 DLX5 DLX6 FOXG1 NCOR1
3 transcription regulatory region DNA binding GO:0044212 9.62 CREB1 DLX5 HDAC1 NCOR1
4 protein N-terminus binding GO:0047485 9.61 HDAC1 MECP2 STXBP1
5 DNA binding GO:0003677 9.61 CREB1 DLX5 DLX6 FOXG1 HDAC1 MBD4
6 transcription corepressor activity GO:0003714 9.46 HDAC1 MECP2 NCOR1 SIN3A
7 transcription regulatory region sequence-specific DNA binding GO:0000976 9.43 HDAC1 JMJD1C SIN3A
8 protein deacetylase activity GO:0033558 9.37 HDAC1 SIN3A
9 RNA polymerase II activating transcription factor binding GO:0001102 8.8 CREB1 NCOR1 SIN3A

Sources for Rett Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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