RTT
MCID: RTT002
MIFTS: 81

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 57 12 75 53 25 54 59 74 37 29 13 55 6 43 44 15 40 72 33
Atypical Rett Syndrome 53 59 29 6
Rtt 57 25 74
Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use 57 53
Rett Syndrome, Atypical 57 72
Rett Syndrome Variant 53 59
Rett's Disorder 12 25
Rett Disorder 25 74
Rts 57 74
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome 25
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use 74
Rett Syndrome, Preserved Speech Variant 57
Rett Syndrome Preserved Speech Variant 74
Rett Syndrome, Zappella Variant 6
Cerebroatrophic Hyperammonemia 12
Rett Syndrome Zappella Variant 74
Rett Like Syndrome 53
Rett's Syndrome 25
Atypical Rtt 59

Characteristics:

Orphanet epidemiological data:

59
rett syndrome
Inheritance: X-linked dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Infancy,Neonatal; Age of death: adult;
atypical rett syndrome
Inheritance: Autosomal dominant,X-linked dominant; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

57
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:

32
rett syndrome:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:1206
OMIM 57 312750
KEGG 37 H00440
MeSH 44 D015518
NCIt 50 C75488
SNOMED-CT 68 68618008
ICD10 33 F84.2
MESH via Orphanet 45 D015518
ICD10 via Orphanet 34 F84.2
UMLS via Orphanet 73 C0035372 C2748910
Orphanet 59 ORPHA3095 ORPHA778
UMLS 72 C0035372 C2748910

Summaries for Rett Syndrome

NIH Rare Diseases : 53 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 encephalopathy, 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 Donepezil and tannic acid 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 : 25 Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and 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. MECP2 MECP2

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)

MedlinePlus : 43 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 : 54 Rett syndrome is a rare childhood neurological and developmental disorder that almost exclusively affects females. Infants appear to develop normally for the first several months before development stalls (typically between the ages of 6-18 months). Early symptoms include: • loss of muscle tone • slowing of development • difficulty feeding • jerkiness in arm and leg movement • reduced eye contact and eye gaze. The child then begins to lose or have regression of previously gained skills, including: • the ability to socialize and speak • purposeful use of the hands • the ability to walk. Other symptoms may include: • slowed growth • seizures • intellectual disabilities • problems with breathing • scoliosis (curvature of the spine) • behavioral problems. Symptoms usually stabilize between ages 3-5 years. Social interactions continue to improve into adulthood but motor function and movement gradually decline and muscles become increasingly weak.

KEGG : 37
Rett Syndrome is a severe neurological disorder found almost exclusively in girls. It is characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical hand movements. Mutations in MECP2 are identified in most patients with classic Rett syndrome. Recently, mutations in FOXG1 gene have been shown to cause congenital variant of Rett syndrome.

UniProtKB/Swiss-Prot : 74 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 : 75 Rett syndrome (RTT) is a genetic brain disorder that 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 1082)
# Related Disease Score Top Affiliating Genes
1 pervasive developmental disorder 33.3 UBE3A MECP2 FOXG1 CDKL5 BDNF
2 encephalopathy 31.9 STXBP1 MECP2 CDKL5
3 visual epilepsy 31.6 UBE3A STXBP1 MECP2 CDKL5
4 microcephaly 31.5 UBE3A STXBP1 MECP2 FOXG1 CDKL5
5 angelman syndrome 31.5 UBE3A MECP2 MBD4 CDKL5
6 epilepsy 31.3 UBE3A STXBP1 MECP2 CDKL5 BDNF
7 gait apraxia 31.3 MECP2 CDKL5
8 west syndrome 30.9 TH STXBP1 MECP2 FOXG1 CDKL5
9 huntington disease 30.6 NCOR1 CREB1 CHAT BDNF
10 mood disorder 30.3 TH CREB1 BDNF
11 nervous system disease 29.9 TH CHAT BDNF
12 rett syndrome, congenital variant 12.8
13 rothmund-thomson syndrome 12.3
14 epileptic encephalopathy, early infantile, 2 12.3
15 atypical teratoid rhabdoid tumor 12.1
16 chromosome 16p13.3 deletion syndrome, proximal 12.0
17 rhabdoid cancer 11.8
18 foxg1 syndrome 11.8
19 encephalopathy, neonatal severe, due to mecp2 mutations 11.7
20 cdkl5 deficiency disorder 11.7
21 mecp2-related severe neonatal encephalopathy 11.7
22 obsolete: atypical teratoid/rhabdoid tumor 11.6
23 mental retardation, x-linked, syndromic 13 11.5
24 rhabdoid tumor predisposition syndrome 1 11.5
25 dengue disease 11.5
26 neurodevelopmental disorder with poor language and loss of hand skills 11.5
27 neurodegeneration with brain iron accumulation 5 11.5
28 rapadilino syndrome 11.5
29 coffin-lowry syndrome 11.2
30 asperger syndrome 11.2
31 childhood apraxia of speech 11.2
32 rubinstein-taybi syndrome 1 11.2
33 congenital toxoplasmosis 11.2
34 erythrokeratoderma 11.2
35 scoliosis 10.8
36 autism 10.8
37 isolated split hand-split foot malformation 10.8 DLX6 DLX5
38 specific developmental disorder 10.7 MECP2 CDKL5 BDNF
39 alacrima, achalasia, and mental retardation syndrome 10.7
40 autism spectrum disorder 10.7
41 mental retardation, autosomal dominant 13 10.6 SIN3A HDAC1
42 ocular dominance 10.6 CREB1 CHAT BDNF
43 neonatal hypoxic and ischemic brain injury 10.6 TH BDNF
44 amnestic disorder 10.6 CREB1 CHAT BDNF
45 apraxia 10.6
46 ataxia and polyneuropathy, adult-onset 10.6
47 toxic encephalopathy 10.6 TH CREB1 BDNF
48 human immunodeficiency virus type 1 10.6
49 gastroenteritis 10.6
50 hypotonia 10.5

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:

59 32 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001250
3 spasticity 59 32 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001257
4 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002353
5 dysphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002357
6 developmental regression 59 32 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0002376
7 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
8 thick vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0012471
9 microcephaly 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000252
10 gastroesophageal reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0002020
11 stereotypy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000733
12 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
13 abnormality of movement 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100022
14 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
15 ventriculomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002119
16 cerebral cortical atrophy 59 32 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0002120
17 aplasia/hypoplasia of the cerebellum 59 32 hallmark (90%) Very frequent (99-80%) HP:0007360
18 underdeveloped nasal alae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000430
19 wide mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000154
20 clinodactyly of the 5th finger 59 32 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0004209
21 abnormality of the metacarpal bones 59 32 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001163
22 apraxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002186
23 nephrolithiasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000787
24 fine hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002213
25 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
26 wide nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000445
27 abnormality of the antitragus 59 32 hallmark (90%) Very frequent (99-80%) HP:0009896
28 abnormal fingernail morphology 32 hallmark (90%) HP:0001231
29 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
30 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
31 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
32 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
33 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
34 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
35 autism 59 32 frequent (33%) Frequent (79-30%) HP:0000717
36 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
37 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
38 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
39 tetraplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002445
40 self-injurious behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0100716
41 macrotia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000400
42 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
43 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
44 decreased muscle mass 59 32 occasional (7.5%) Occasional (29-5%) HP:0003199
45 acrocyanosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001063
46 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
47 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
48 arthrogryposis multiplex congenita 59 32 occasional (7.5%) Occasional (29-5%) HP:0002804
49 narrow foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001786
50 arnold-chiari malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002308

Symptoms via clinical synopsis from OMIM:

57
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, cachexia, gait ataxia, back pain, 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:

26
# 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:

46 (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 normal MP:0002873 9.91 BDNF CHAT CREB1 DLX5 FOXG1 HDAC1
12 no phenotypic analysis MP:0003012 9.87 BDNF CDKL5 HDAC1 MECP2 STXBP1 TH
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 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Donepezil Approved Phase 3 120014-06-4 3152
2
tannic acid Approved Phase 3 1401-55-4
3
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
4
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
5
Risperidone Approved, Investigational Phase 3 106266-06-2 5073
6 Strawberry Approved Phase 3
7
Ethanol Approved Phase 3 64-17-5 702
8
Glutamic acid Approved, Nutraceutical Phase 3 56-86-0 33032
9
Beta carotene Approved, Nutraceutical Phase 3 7235-40-7
10 Cholinesterase Inhibitors Phase 3
11 Cholinergic Agents Phase 3
12 Nootropic Agents Phase 3
13 Serotonin Antagonists Phase 3
14 Antipsychotic Agents Phase 3
15 Dopamine Agents Phase 3
16 Dopamine Antagonists Phase 3
17 Carotenoids Phase 3
18 Neurotransmitter Uptake Inhibitors Phase 3
19 Serotonin Uptake Inhibitors Phase 3
20 Serotonin Agents Phase 3
21
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
22
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
23
Desipramine Approved, Investigational Phase 2 50-47-5 2995
24
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
25
Dextromethorphan Approved Phase 2 125-71-3 5360696 5362449
26
Zinc Approved, Investigational Phase 2 7440-66-6 32051
27
Verapamil Approved Phase 2 52-53-9 2520
28
Mecasermin Approved, Investigational Phase 2 68562-41-4
29
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
30 Fingolimod Hydrochloride Phase 1, Phase 2
31 Immunologic Factors Phase 1, Phase 2
32 Immunosuppressive Agents Phase 1, Phase 2
33 Dihydromevinolin Phase 2
34 Lipid Regulating Agents Phase 2
35 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
36 L 647318 Phase 2
37 Hypolipidemic Agents Phase 2
38 Anticholesteremic Agents Phase 2
39 Antimetabolites Phase 2
40 (T,G)-A-L Phase 2
41 Adjuvants, Immunologic Phase 2
42
Glatiramer Acetate Phase 2 147245-92-9 3081884
43 Antirheumatic Agents Phase 2
44 Antidepressive Agents Phase 2
45 Adrenergic Agents Phase 2
46 Antidepressive Agents, Tricyclic Phase 2
47 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
48 Respiratory System Agents Phase 2
49 Excitatory Amino Acid Antagonists Phase 2
50 Excitatory Amino Acids Phase 2

Interventional clinical trials:

(show top 50) (show all 77)
# 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 Randomized, Double-blind, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome. Completed NCT02224703 Phase 3 GWP42003-P;Placebo Control
3 A Multicenter, 2-Cohort Trial to First Assess the Pharmacokinetic and Safety Profile of a Single Dose of ZX008 (Fenfluramine Hydrochloride) Oral Solution When Added to Standard of Care , Followed by a Randomized, Double-blind, Placebo-controlled Parallel Group Evaluation of the Efficacy, Safety, and Tolerability of ZX008 as Adjunctive Antiepileptic Therapy to Stiripentol Treatment in Children 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
4 A Double Blind, Placebo Controlled Two-part Study to Investigate the Dose-ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Completed NCT02091375 Phase 3 GWP42003-P 20 mg/kg/day Dose;Placebo control
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 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 Recruiting NCT03848832 Phase 3 GWP42003-P;Placebo
7 A Multicenter, Randomized, Double-blind, Parallel Group, Placebo-controlled Trial of Two Fixed Doses of ZX008 (Fenfluramine Hydrochloride) Oral Solution 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
8 A Randomised, Double-Blind, Placebo-Controlled 6-month Study to Evaluate the Efficacy, Safety, and Tolerability of Sarizotan in Patients With Rett Syndrome With Respiratory Symptoms Active, not recruiting NCT02790034 Phase 2, Phase 3 Sarizotan;Placebo
9 A Multicenter, Randomized, Double-blind, Parallel Group, Placebo-controlled Trial of Two Fixed Doses of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Active, not recruiting NCT02682927 Phase 3 ZX008 (Fenfluramine Hydrochloride);Matching Placebo
10 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT02823145 Phase 3 ZX008 (Fenfluramine Hydrochloride)
11 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy for Seizures in Patients With Rare Seizure Disorders Such as Epileptic Encephalopathies Including Dravet Syndrome and Lennox-Gastaut Syndrome Enrolling by invitation NCT03936777 Phase 3 ZX008 (Fenfluramine Hydrochloride)
12 An Exploratory, Pilot Study to Assess the Usability of the Embrace Seizure Detection Watch in Children and Young Adults With Dravet Syndrome: A Sub-study to the ZX008-1503 Open-Label Extension Trial Enrolling by invitation NCT03299842 Phase 3 ZX008 (Fenfluramine Hydrochloride)
13 Multi-site, Prospective, Open-label, Long-term, Flexible Dose, Interventional Study to Evaluate the 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 Multi-site, Prospective, Randomised, Double-blind, Placebo-controlled, Parallel-group, Interventional Study to Evaluate the Efficacy, Safety, and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
15 A Multicenter, Randomized, Double-blind, Placebo- Controlled, Interventional Study to Assess the Safety and Efficacy of Pharmaceutical Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Subjects With Inadequately Controlled Dravet Syndrome Withdrawn NCT02318563 Phase 3 Cannabidiol Oral Solution;Placebo Solution
16 Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome. Unknown status NCT03059160 Phase 2 Tridecanoic Acid
17 A Phase II Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Dose-Escalation Study of NNZ-2566 in Rett Syndrome Completed NCT01703533 Phase 2 NNZ-2566;Placebo
18 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
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 A Phase 2A Randomized, Placebo Controlled Trial of EPI-743 in Children With Rett Syndrome Completed NCT01822249 Phase 2 EPI-743;Placebo
21 Pharmacological Treatment of Rett Syndrome With 3-Hydroxy-3 Methylglutaryl-coenzyme A Reductase Inhibitor-Lovastatin (Mevacor) Completed NCT02563860 Phase 2 Lovastatin
22 Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone) Completed NCT02153723 Phase 2 Glatiramer Acetate
23 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
24 Placebo Controlled Trial of Dextromethorphan in Rett Syndrome Completed NCT01520363 Phase 2 dextromethorphan;placebo
25 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
26 A Double Blind, Placebo-controlled, Two-part Study to Investigate the Dose-ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome 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 Adjunctive Seizure Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
28 A Double-Blind, Randomized, Placebo-Controlled, Safety and Efficacy Study of ANAVEX2-73 in Patients With Rett Syndrome Recruiting NCT03941444 Phase 2 ANAVEX2-73;Placebos
29 Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin: An Open-label, 10-subject Clinical Trial of UX007 (Triheptanoin) in the Treatment of Mitochondrial Dysfunction in Participants With Rett Syndrome, Dyskinesia, and Epilepsy Recruiting NCT02696044 Phase 2 triheptanoin
30 A Randomized, Double-blind, Placebo-controlled, Cross-over Study to Assess the Safety, Tolerability and Efficacy of Oral Ketamine for Patients With Rett Syndrome Recruiting NCT03633058 Phase 2 Ketamine
31 A Double-Blind, Randomized, Placebo-Controlled, Dose Titration Study of ANAVEX2-73 in Patients With Rett Syndrome Recruiting NCT03758924 Phase 2 ANAVEX2-73;Placebo
32 A Pilot Treatment Study of Insulin-Like Growth Factor-1 (IGF-1) in Autism Spectrum Disorder Recruiting NCT01970345 Phase 2 IGF-1;Placebo/saline
33 A Multicenter, Open-label, Pilot Study of TAK-935 (OV935) in Patients With 15Q Duplication Syndrome or CDKL5 Deficiency Disorder (ARCADE Study) Recruiting NCT03694275 Phase 2 TAK-935
34 An Open-Label Trial to Assess the Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution in Combination With Cannabidiol, as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome or Lennox-Gastaut Syndrome Active, not recruiting NCT03467113 Phase 1, Phase 2 ZX008 0.2 and 0.8 mg/kg/day
35 A Pilot Study of an Antioxidant Cocktail vs. Placebo in the Treatment of Children and Adolescents With Rett Syndrome Not yet recruiting NCT04041713 Phase 2 Rett-T
36 Trial of Dextromethorphan in Rett Syndrome Terminated NCT00593957 Phase 2 Dextromethorphan;Dextromethorphan
37 An Exploratory Open-Label Phase 2 Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder Withdrawn NCT02226458 Phase 2 EPI-743
38 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®)
39 Pharmacological Treatment of Rett Syndrome by Stimulation of Synaptic Maturation With IGF-1 Completed NCT01253317 Phase 1 rhIGF-1
40 Ketamine for the Treatment of Rett Syndrome: An Exploratory Trial Terminated NCT02562820 Phase 1
41 The Findings of Resting-state Functional Magnetic Resonance Imaging , Susceptibility Weighted Imaging and Diffusion Spectrum Imaging in Rett Syndrome Unknown status NCT02903056
42 Brainstem Assesment in a Cohort of Very Preterm Babies (Less Than 28 Weeks) Unknown status NCT02669056
43 Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome Approved for marketing NCT01983722 Stiripentol
44 Rett Syndrome Natural History: Genetic and Physical Characteristics of Rett Syndrome Completed NCT00299312
45 Functional Abilities in Rett Syndrome Completed NCT00630422
46 Metabolic Evaluation of Nutrition in Rett Syndrome: Creatine Metabolism Completed NCT01198015
47 Osteoporosis in RETT Syndrome. Understanding the Mechanisms and Identification of Biomarkers. Completed NCT02110797
48 Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome Completed NCT00004773
49 Nutritional Aspects of Rett Syndrome Completed NCT00004656
50 Feasibility and Effectiveness of an Individualized 12-week 'Uptime' Participation Intervention (U-PART) in Girls and Women With Rett Syndrome Completed NCT03848442

Search NIH Clinical Center for Rett Syndrome

Cochrane evidence based reviews: rett syndrome

Genetic Tests for Rett Syndrome

Genetic tests related to Rett Syndrome:

# Genetic test Affiliating Genes
1 Rett Syndrome 29 MECP2
2 Atypical Rett Syndrome 29

Anatomical Context for Rett Syndrome

MalaCards organs/tissues related to Rett Syndrome:

41
Brain, Eye, Bone, Testes, Cortex, Cerebellum, Skeletal Muscle

Publications for Rett Syndrome

Articles related to Rett Syndrome:

(show top 50) (show all 3171)
# Title Authors PMID Year
1
Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. 9 38 8 71
16630165 2006
2
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 9 38 8 71
15057977 2004
3
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. 9 38 8 71
15034579 2004
4
Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. 9 38 8 71
12966522 2003
5
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. 9 38 8 71
11896459 2002
6
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 9 38 8 71
10508514 1999
7
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). 38 8 71
18562141 2009
8
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. 38 8 71
18989701 2009
9
p.R270X MECP2 mutation and mortality in Rett syndrome. 38 8 71
16077729 2005
10
Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome. 38 8 71
15857422 2005
11
De novo MECP2 mutation in a 46,XX male patient with Rett syndrome. 38 8 71
12481990 2002
12
Infantile hypotonia as a presentation of Rett syndrome. 38 8 71
12210319 2002
13
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. 38 8 71
11283202 2001
14
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. 38 8 71
11022934 2000
15
Preserved speech variant is allelic of classic Rett syndrome. 38 8 71
10854091 2000
16
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. 38 8 71
10577905 1999
17
Cortical reflex myoclonus in Rett syndrome. 38 8 71
9546328 1998
18
[On a unusual brain atrophy syndrome in hyperammonemia in childhood]. 8 71
5300597 1966
19
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 9 38 71
17089071 2007
20
Very mild cases of Rett syndrome with skewed X inactivation. 9 38 8
16690727 2006
21
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. 9 38 8
16183801 2006
22
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. 9 38 8
12655490 2003
23
Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. 9 38 8
12160743 2002
24
Preserved speech variants of the Rett syndrome: molecular and clinical analysis. 9 38 8
11746022 2001
25
Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease. 9 38 8
11432961 2001
26
Two affected boys in a Rett syndrome family: clinical and molecular findings. 9 38 8
11071498 2000
27
Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice. 38 8
26469053 2015
28
Wild-type microglia arrest pathology in a mouse model of Rett syndrome. 38 8
22425995 2012
29
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. 38 71
21441262 2011
30
Rett syndrome: revised diagnostic criteria and nomenclature. 38 8
21154482 2010
31
Rett syndrome diagnostic criteria: lessons from the Natural History Study. 38 8
21104896 2010
32
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. 38 8
21068835 2010
33
L1 retrotransposition in neurons is modulated by MeCP2. 38 8
21085180 2010
34
A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. 38 8
21074045 2010
35
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. 38 71
19578037 2010
36
Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females. 38 71
19564653 2010
37
Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome. 38 8
19365833 2009
38
The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform. 38 71
19034540 2009
39
Brain metabolism in Rett syndrome: age, clinical, and genotype correlations. 38 8
19194883 2009
40
FOXG1 is responsible for the congenital variant of Rett syndrome. 38 71
18571142 2008
41
Investigating genotype-phenotype relationships in Rett syndrome using an international data set. 38 71
18332345 2008
42
An explanation for another familial case of Rett syndrome: maternal germline mosaicism. 38 8
17440498 2007
43
MECP2 mutations in males. 38 71
17351020 2007
44
FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice. 38 8
17309881 2007
45
Germline mosaicism for a MECP2 mutation in a man with two Rett daughters. 38 8
16965328 2006
46
Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2. 38 71
16155192 2006
47
NTNG1 mutations are a rare cause of Rett syndrome. 38 8
16502428 2006
48
The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database. 38 8
16389588 2006
49
Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome. 38 8
16002417 2005
50
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. 38 8
15870826 2005

Variations for Rett Syndrome

ClinVar genetic disease variations for Rett Syndrome:

6 (show top 50) (show all 616)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MECP2 NM_004992.3(MECP2): c.1234_1337del (p.Val412fs) deletion Pathogenic rs1557135039 X:153295942-153296045 X:154030491-154030594
2 MECP2 NM_004992.3(MECP2): c.822_823TG[1] (p.Val275fs) short repeat Pathogenic rs1557136374 X:153296457-153296458 X:154031006-154031007
3 MECP2 NM_004992.3(MECP2): c.1089_1129del (p.Lys364fs) deletion Pathogenic rs1064792898 X:153296150-153296190 X:154030699-154030739
4 MECP2 NM_004992.3(MECP2): c.1024_1025insAG (p.Pro342fs) insertion Pathogenic rs1060499620 X:153296254-153296255 X:154030803-154030804
5 MECP2 NM_004992.3(MECP2): c.678del (p.Gln227fs) deletion Pathogenic rs1060499621 X:153296601-153296601 X:154031150-154031150
6 MECP2 NM_004992.3(MECP2) duplication Pathogenic rs1064797104 X:153296505-153296529 X:154031054-154031078
7 MECP2 NM_004992.3(MECP2): c.341_349del (p.Gly114_Ser116del) deletion Pathogenic rs1557137675 X:153297686-153297694 X:154032235-154032243
8 MECP2 NM_004992.3(MECP2): c.1066_1166del (p.Ser357fs) deletion Pathogenic rs1557135664 X:153296114-153296214 X:154030663-154030763
9 MECP2 NM_004992.3(MECP2): c.215del (p.Pro72fs) deletion Pathogenic rs61754441 X:153297820-153297820 X:154032369-154032369
10 GABBR2 NM_005458.8(GABBR2): c.1699G> A (p.Ala567Thr) single nucleotide variant Pathogenic rs922847767 9:101133817-101133817 9:98371535-98371535
11 MECP2 NM_004992.3(MECP2): c.1158_*261del (p.Pro387fs) deletion Pathogenic rs1557134621 X:153295557-153296121 X:154030108-154030672
12 MECP2 NC_000023.10: g.(?_153287264)_(153363188_?)dup duplication Pathogenic X:153287264-153363188 :0-0
13 MECP2 NM_004992.3(MECP2): c.1137dup (p.Val380fs) duplication Pathogenic rs1557135793 X:153296142-153296142 X:154030691-154030691
14 CDKL5 NM_003159.2(CDKL5): c.455G> T (p.Cys152Phe) single nucleotide variant Pathogenic rs122460157 X:18600062-18600062 X:18581942-18581942
15 CDKL5 NM_003159.2(CDKL5): c.525A> T (p.Arg175Ser) single nucleotide variant Pathogenic rs61749700 X:18602444-18602444 X:18584324-18584324
16 CDKL5 NM_003159.2(CDKL5): c.2500C> T (p.Gln834Ter) single nucleotide variant Pathogenic rs122460158 X:18646494-18646494 X:18628374-18628374
17 CDKL5 NM_003159.2(CDKL5): c.119C> T (p.Ala40Val) single nucleotide variant Pathogenic rs122460159 X:18582616-18582616 X:18564496-18564496
18 CDKL5 NM_003159.2(CDKL5): c.215T> C (p.Ile72Thr) single nucleotide variant Pathogenic rs62641235 X:18593543-18593543 X:18575423-18575423
19 MECP2 NM_004992.3(MECP2): c.464T> C (p.Phe155Ser) single nucleotide variant Pathogenic rs28934905 X:153296815-153296815 X:154031364-154031364
20 MECP2 MECP2, 1-BP DEL, 806G deletion Pathogenic
21 MECP2 MECP2, 44-BP DEL, NT1152 deletion Pathogenic
22 MECP2 NM_004992.3(MECP2): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs61750240 X:153296471-153296471 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 X:153296099-153296099 X:154030648-154030648
25 MECP2 NM_004992.3(MECP2): c.167_168del (p.Pro56fs) deletion Pathogenic rs267608434 X:153297867-153297868 X:154032416-154032417
26 MECP2 MECP2, 41-BP DEL, NT1157 deletion Pathogenic,risk factor
27 MECP2 MECP2, 41-BP DEL, NT1159 deletion Pathogenic
28 MECP2 MECP2, 44-BP DEL, NT1159 deletion Pathogenic
29 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 X:153296363-153296363 X:154030912-154030912
30 MECP2 MECP2, 1-BP DEL, 76C deletion Pathogenic
31 MECP2 NM_004992.3(MECP2): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs61748421 X:153296777-153296777 X:154031326-154031326
32 MECP2 MECP2, 52-BP DEL deletion Pathogenic
33 MECP2 NM_004992.3(MECP2): c.423C> G (p.Tyr141Ter) single nucleotide variant Pathogenic rs61748396 X:153296856-153296856 X:154031405-154031405
34 MECP2 NM_004992.3(MECP2): c.1363G> T (p.Glu455Ter) single nucleotide variant Pathogenic rs104894864 X:153295916-153295916 X:154030465-154030465
35 MECP2 NM_004992.3(MECP2): c.298C> G (p.Leu100Val) single nucleotide variant Pathogenic rs28935168 X:153297737-153297737 X:154032286-154032286
36 MECP2 MECP2, 11-BP DEL, EX1 deletion Pathogenic
37 MECP2 NM_004992.3(MECP2): c.674C> T (p.Pro225Leu) single nucleotide variant Pathogenic rs61749715 X:153296605-153296605 X:154031154-154031154
38 MECP2 NM_004992.3(MECP2): c.964C> T (p.Pro322Ser) single nucleotide variant Pathogenic rs61751449 X:153296315-153296315 X:154030864-154030864
39 MECP2 NM_004992.3(MECP2): c.454C> G (p.Pro152Ala) single nucleotide variant Pathogenic rs179363900 X:153296825-153296825 X:154031374-154031374
40 MECP2 NM_004992.3(MECP2): c.710del (p.Gly237fs) deletion Pathogenic rs61749743 X:153296569-153296569 X:154031118-154031118
41 MECP2 NM_004992.3(MECP2): c.468C> G (p.Asp156Glu) single nucleotide variant Pathogenic rs61748408 X:153296811-153296811 X:154031360-154031360
42 MECP2 NM_004992.3(MECP2): c.611C> G (p.Ser204Ter) single nucleotide variant Pathogenic rs61749724 X:153296668-153296668 X:154031217-154031217
43 MECP2 NM_004992.3(MECP2): c.730C> T (p.Gln244Ter) single nucleotide variant Pathogenic rs61749747 X:153296549-153296549 X:154031098-154031098
44 MECP2 NM_004992.3(MECP2): c.806del (p.Gly269fs) deletion Pathogenic rs61750241 X:153296473-153296473 X:154031022-154031022
45 MECP2 NM_004992.3(MECP2): c.107_113del (p.Lys36fs) deletion Pathogenic rs267608424 X:153297922-153297928 X:154032471-154032477
46 MECP2 NM_004992.3(MECP2): c.1087A> T (p.Lys363Ter) single nucleotide variant Pathogenic rs61752375 X:153296192-153296192 X:154030741-154030741
47 MECP2 NM_004992.3(MECP2): c.1038C> G (p.Ser346Arg) single nucleotide variant Pathogenic rs61752365 X:153296241-153296241 X:154030790-154030790
48 MECP2 NM_004992.3(MECP2): c.(?_-1)_(26_?)del deletion Pathogenic
49 MECP2 NM_004992.3(MECP2): c.1009_1027del (p.Lys337fs) deletion Pathogenic rs267608559 X:153296252-153296270 X:154030801-154030819
50 MECP2 NM_004992.3(MECP2): c.100_103del (p.Asp34fs) deletion Pathogenic rs61754428 X:153297932-153297935 X:154032481-154032484

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

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

Copy number variations for Rett Syndrome from CNVD:

7 (show top 50) (show all 64)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 25621 1 192100000 197500000 Copy number CFHR1 Rett syndrome
2 25622 1 192100000 197500000 Copy number CFHR3 Rett syndrome
3 33645 1 46852126 246794522 Duplication or delet ion OR2T34 Rett syndrome
4 43286 10 46100000 50100000 Copy number GPRIN2 Rett syndrome
5 43406 10 46396163 46568496 Copy number PPYR1 Rett syndrome
6 43589 10 47017598 47161232 Duplication Rett syndrome
7 82557 10 105781035 105835628 Copy number COL17A1 Rett syndrome
8 82558 6 105717459 105777332 Deletion SLK Rett syndrome
9 82938 14 18624383 19484013 Copy number OR4K1 Rett syndrome
10 82939 14 18624383 19484013 Copy number OR4K2 Rett syndrome
11 82940 14 18624383 19484013 Copy number OR4K5 Rett syndrome
12 82941 14 18624383 19484013 Copy number OR4M1 Rett syndrome
13 82942 14 18624383 19484013 Copy number OR4N2 Rett syndrome
14 82943 14 18624383 19484013 Copy number OR4Q3 Rett syndrome
15 82944 14 18624383 19484013 Deletion or duplicat ion OR11H13P Rett syndrome
16 89640 15 18810004 19537035 Deletion Rett syndrome
17 91690 15 32523241 32572315 Deletion Rett syndrome
18 99799 16 28732295 28952218 Copy number ATP2A1 Rett syndrome
19 99800 16 28732295 28952218 Copy number CD19 Rett syndrome
20 99801 16 28732295 28952218 Copy number LAT Rett syndrome
21 99802 16 28732295 28952218 Copy number NFAC2IP Rett syndrome
22 99803 16 28732295 28952218 Copy number RABEP2 Rett syndrome
23 99804 16 28732295 28952218 Copy number SH2B1 Rett syndrome
24 99805 16 28732295 28952218 Copy number SPNS1 Rett syndrome
25 99806 16 28732295 28952218 Copy number TUFM Rett syndrome
26 99807 16 28732295 28952218 Duplication ATXN2L Rett syndrome
27 101278 16 34399543 34539890 Duplication Rett syndrome
28 112972 17 41544224 41706870 Duplication KIAA1267 Rett syndrome
29 144180 2 242514593 242655973 Deletion Rett syndrome
30 144868 2 3060975 3460506 Copy number TTC15 Rett syndrome
31 144869 2 3060975 3460506 Deletion TSSC1 Rett syndrome
32 149541 1 246822753 246823692 Deletion OR2T10 Rett syndrome
33 162851 22 22681995 22712211 Duplication GSTT1 Rett syndrome
34 165049 22 41237731 41287060 Copy number SERHL2 Rett syndrome
35 28592 1 223731557 223870819 Duplication ENAH Rett syndrome
36 22474 1 16698906 17124554 Duplication or delet ion ESPNP Rett syndrome
37 22473 1 16698906 17124554 Copy number MSTP9 Rett syndrome
38 22472 1 16698906 17124554 Copy number CROCC 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 TH STXBP1 MECP2 GABBR2 CREB1
2 12.24 SIN3A NCOR1 MECP2 HDAC1
3
Show member pathways
12.16 SIN3A NCOR1 HDAC1 FOXG1
5 12.03 SIN3A NCOR1 JMJD1C HDAC1
6 11.82 SIN3A NCOR1 HDAC1
7
Show member pathways
11.77 TH HDAC1 CREB1 BDNF
8 11.64 TH MECP2 HDAC1 CREB1 CHAT BDNF
9 11.61 UBE3A SIN3A NCOR1 HDAC1 CREB1
10 11.6 TH CHAT BDNF
11 11.49 SIN3A NCOR1 HDAC1
12 11.47 UBE3A SIN3A HDAC1
13 11.44 SIN3A NCOR1 HDAC1 FOXG1 CREB1
14
Show member pathways
11.39 SIN3A NCOR1 MECP2 HDAC1
15 11.07 UBE3A SIN3A NCOR1 MECP2 HDAC1 DLX6
16
Show member pathways
10.93 TH CHAT
17 10.88 TH CREB1
18 10.7 CREB1 BDNF
19 10.63 TH CHAT

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 NCOR1 HDAC1 DLX5 CREB1
2 transcriptional repressor complex GO:0017053 9.43 SIN3A NCOR1 HDAC1
3 Sin3 complex GO:0016580 9.13 SIN3A NCOR1 HDAC1
4 chromatin GO:0000785 9.02 SIN3A MECP2 MBD4 JMJD1C HDAC1
5 nucleus GO:0005634 10.03 UBE3A TH STXBP1 SIN3A NCOR1 MECP2

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

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

Sources for Rett Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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