RTT
MCID: RTT002
MIFTS: 80

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 56 12 74 52 25 53 58 73 36 29 13 54 6 42 43 15 39 71 32
Atypical Rett Syndrome 52 58 29 6
Rtt 56 25 73
Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use 56 52
Rett Syndrome, Preserved Speech Variant 56 29
Rett Syndrome, Atypical 56 71
Rett Syndrome Variant 52 58
Rett's Disorder 12 25
Rett Disorder 25 73
Rts 56 73
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome 25
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use 73
Rett Syndrome Preserved Speech Variant 73
Rett Syndrome, Zappella Variant 6
Cerebroatrophic Hyperammonemia 12
Rett Syndrome Zappella Variant 73
Rett Like Syndrome 52
Rett's Syndrome 25
Atypical Rtt 58

Characteristics:

Orphanet epidemiological data:

58
rett syndrome
Inheritance: X-linked dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Infancy,Neonatal; Age of death: adult;
atypical rett syndrome
Inheritance: Autosomal dominant,X-linked dominant; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

56
Miscellaneous:
most cases are sporadic
prevalence 1/10,000-1/15,000 female births
initially normal for first 6-18 months which is then followed by withdrawal and regression
four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year)
stage ii, rapid developmental regression (onset 1-4 years)
stage iii, pseudostationary period (onset 2-10 years)
stage iv, late motor deterioration (when ambulation ceases)
de novo mutations occur almost exclusively on the paternally derived x chromosome

Inheritance:
x-linked dominant


HPO:

31
rett syndrome:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Rett Syndrome

NIH Rare Diseases : 52 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 autism, and has symptoms including seizures, tremor and cachexia. 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 Risperidone have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and bone, and related phenotypes are intellectual disability and global developmental delay

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 : 56 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 : 42 Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include Loss of speech Loss of hand movements such as grasping Compulsive movements such as hand wringing Balance problems Breathing problems Behavior problems Learning problems or intellectual disability Rett syndrome has no cure. You can treat some of the symptoms with medicines, surgery, and physical and speech therapy. Most people with Rett syndrome live into middle age and beyond. They will usually need care throughout their lives. NIH: National Institute of Child Health and Human Development

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

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

UniProtKB/Swiss-Prot : 73 Rett syndrome: An X-linked dominant neurodevelopmental disorder, and one of the most common causes of mental retardation in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements, and develop microcephaly, seizures, autism, ataxia, mental retardation and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood.

Wikipedia : 74 Rett syndrome (RTT) is a genetic 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 1113)
# Related Disease Score Top Affiliating Genes
1 pervasive developmental disorder 33.5 UBE3A STXBP1 SIN3A NTNG1 MECP2 FOXG1
2 autism 32.3 UBE3A STXBP1 MECP2 MBD4 JMJD1C GABBR2
3 mecp2 disorders 32.2 MECP2 FOXG1
4 encephalopathy 32.1 STXBP1 MECP2 CDKL5
5 bruxism 31.8 STXBP1 MECP2 FOXG1 CDKL5
6 visual epilepsy 31.8 UBE3A STXBP1 MECP2 CDKL5
7 epilepsy 31.8 UBE3A STXBP1 MECP2 GABBR2 CREB1 CDKL5
8 gait apraxia 31.7 SIN3A MECP2 FOXG1 CDKL5
9 angelman syndrome 31.6 UBE3A MECP2 MBD4 CDKL5
10 west syndrome 31.5 STXBP1 MECP2 FOXG1 CDKL5
11 lubs x-linked mental retardation syndrome 31.4 UBE3A SIN3A NCOR1 MECP2 FOXG1 CDKL5
12 early infantile epileptic encephalopathy 31.3 UBE3A STXBP1 MECP2 GABBR2 FOXG1 CDKL5
13 lennox-gastaut syndrome 31.2 STXBP1 MECP2 FOXG1 CDKL5
14 huntington disease 31.0 SIN3A PRPF40A NCOR1 HDAC1 CREB1 CHAT
15 pitt-hopkins syndrome 30.9 UBE3A MECP2 FOXG1 CDKL5
16 fetal alcohol spectrum disorder 30.9 MECP2 CREB1 BDNF
17 epileptic encephalopathy, early infantile, 6 30.8 STXBP1 MECP2 FOXG1 CDKL5
18 benign epilepsy with centrotemporal spikes 30.8 STXBP1 MECP2 CDKL5 BDNF
19 childhood disintegrative disease 30.6 MECP2 BDNF
20 rett syndrome, congenital variant 12.8
21 epileptic encephalopathy, early infantile, 2 12.3
22 rothmund-thomson syndrome, type 2 12.3
23 atypical teratoid rhabdoid tumor 12.2
24 chromosome 16p13.3 deletion syndrome, proximal 12.0
25 rhabdoid cancer 11.8
26 foxg1 syndrome 11.8
27 encephalopathy, neonatal severe, due to mecp2 mutations 11.7
28 mecp2-related severe neonatal encephalopathy 11.7
29 mental retardation, x-linked, syndromic 13 11.5
30 rhabdoid tumor predisposition syndrome 1 11.5
31 dengue disease 11.5
32 neurodevelopmental disorder with poor language and loss of hand skills 11.5
33 neurodegeneration with brain iron accumulation 5 11.5
34 otopalatodigital syndrome, type i 11.5
35 rapadilino syndrome 11.5
36 coffin-lowry syndrome 11.2
37 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 11.2
38 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 11.2
39 neuronal ceroid-lipofuscinoses 11.2
40 asperger syndrome 11.2
41 childhood apraxia of speech 11.2
42 rubinstein-taybi syndrome 1 11.2
43 congenital toxoplasmosis 11.2
44 erythrokeratoderma 11.2
45 christianson syndrome 10.8 UBE3A MECP2 FOXG1 CDKL5
46 mowat-wilson syndrome 10.8 UBE3A MECP2 FOXG1 CDKL5
47 congenital nervous system abnormality 10.8 UBE3A MECP2 FOXG1 CDKL5
48 scoliosis 10.8
49 specific developmental disorder 10.8 UBE3A MECP2 CDKL5 BDNF
50 infancy electroclinical syndrome 10.8 STXBP1 MECP2 FOXG1 CDKL5

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



Diseases related to Rett Syndrome

Symptoms & Phenotypes for Rett Syndrome

Human phenotypes related to Rett Syndrome:

58 31 (show top 50) (show all 105)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 developmental regression 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002376
4 eeg abnormality 58 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0002353
5 spasticity 58 31 hallmark (90%) Frequent (79-30%) HP:0001257
6 abnormality of movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0100022
7 absent speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001344
8 abnormal pattern of respiration 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002793
9 progressive microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000253
10 high-pitched cry 58 31 hallmark (90%) Very frequent (99-80%) HP:0025430
11 stereotypical hand wringing 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012171
12 hearing impairment 31 hallmark (90%) HP:0000365
13 thick vermilion border 31 hallmark (90%) HP:0012471
14 microcephaly 31 hallmark (90%) HP:0000252
15 gastroesophageal reflux 31 hallmark (90%) HP:0002020
16 wide mouth 31 hallmark (90%) HP:0000154
17 cerebral cortical atrophy 31 hallmark (90%) HP:0002120
18 clinodactyly of the 5th finger 31 hallmark (90%) HP:0004209
19 aplasia/hypoplasia of the cerebellum 31 hallmark (90%) HP:0007360
20 long philtrum 31 hallmark (90%) HP:0000343
21 nephrolithiasis 31 hallmark (90%) HP:0000787
22 ventriculomegaly 31 hallmark (90%) HP:0002119
23 fine hair 31 hallmark (90%) HP:0002213
24 abnormality of the metacarpal bones 31 hallmark (90%) HP:0001163
25 camptodactyly of finger 31 hallmark (90%) HP:0100490
26 underdeveloped nasal alae 31 hallmark (90%) HP:0000430
27 wide nose 31 hallmark (90%) HP:0000445
28 abnormality of the antitragus 31 hallmark (90%) HP:0009896
29 seizure 31 hallmark (90%) HP:0001250
30 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
31 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
32 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
33 dystonia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001332
34 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
35 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
36 limb apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0030217
37 scoliosis 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002650
38 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0002360
39 increased serum lactate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002151
40 hyperammonemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001987
41 cholecystitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001082
42 increased csf lactate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002490
43 increased serum pyruvate 58 31 occasional (7.5%) Occasional (29-5%) HP:0003542
44 inability to walk 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002540
45 infantile muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008947
46 agitation 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0000713
47 abnormal autonomic nervous system physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012332
48 increased serum leptin 58 31 occasional (7.5%) Occasional (29-5%) HP:0031793
49 congenital microcephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0011451
50 kyphosis 58 31 Occasional (29-5%) HP:0002808

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
kyphosis

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

Growth Height:
short stature

Growth Weight:
cachexia

Cardiovascular Heart:
prolonged qtc interval
t-wave abnormalities

Muscle Soft Tissue:
muscle wasting

Neurologic Central Nervous System:
seizures
spasticity
dystonia
gait ataxia
truncal ataxia
more
Head And Neck Head:
microcephaly
normal birth head circumference
deceleration of head growth

Abdomen Gastrointestinal:
gastroesophageal reflux
constipation

Head And Neck Teeth:
bruxism

Respiratory:
intermittent hyperventilation
periodic apnea while awake
breath holding

Skeletal Feet:
small feet
cold feet
vasomotor disturbance

Clinical features from OMIM:

312750

UMLS symptoms related to Rett Syndrome:


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

MGI Mouse Phenotypes related to Rett Syndrome:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.3 BDNF CHAT CREB1 DLX5 DLX6 FOXG1
2 behavior/neurological MP:0005386 10.27 BDNF CDKL5 CHAT CREB1 DLX5 FOXG1
3 growth/size/body region MP:0005378 10.21 BDNF CHAT CREB1 DLX5 DLX6 FOXG1
4 nervous system MP:0003631 10.17 BDNF CDKL5 CHAT CREB1 DLX5 DLX6
5 embryo MP:0005380 10.06 CREB1 DLX5 DLX6 FOXG1 HDAC1 MBD4
6 integument MP:0010771 10.06 BDNF DLX5 DLX6 FOXG1 GABBR2 HDAC1
7 craniofacial MP:0005382 10.02 BDNF DLX5 DLX6 FOXG1 HDAC1 MBD4
8 normal MP:0002873 9.86 BDNF CHAT CREB1 DLX5 FOXG1 HDAC1
9 respiratory system MP:0005388 9.76 BDNF CHAT CREB1 DLX5 DLX6 FOXG1
10 vision/eye MP:0005391 9.28 BDNF CDKL5 CHAT FOXG1 HDAC1 JMJD1C
11 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 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Donepezil Approved Phase 3 120014-06-4 3152
2
Risperidone Approved, Investigational Phase 3 106266-06-2 5073
3
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
4 Strawberry Approved Phase 3
5
Ethanol Approved Phase 3 64-17-5 702
6
Glutamic acid Approved, Nutraceutical Phase 3 56-86-0 33032
7
Beta carotene Approved, Nutraceutical Phase 3 7235-40-7
8 Cholinesterase Inhibitors Phase 3
9 Cholinergic Agents Phase 3
10 Neurotransmitter Agents Phase 3
11 Psychotropic Drugs Phase 3
12 Dopamine Agents Phase 3
13 Dopamine Antagonists Phase 3
14 Antipsychotic Agents Phase 3
15 English Lavender Phase 3
16 Carotenoids Phase 3
17 Epidiolex Phase 3
18 Anticonvulsants Phase 3
19
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
20
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
21
Desipramine Approved, Investigational Phase 2 50-47-5 2995
22
Dextromethorphan Approved Phase 2 125-71-3 5360696 5362449
23
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
24
Zinc Approved, Investigational Phase 2 7440-66-6 32051
25
tannic acid Approved Phase 2 1401-55-4
26
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
27
Mecasermin Approved, Investigational Phase 2 68562-41-4
28 Fingolimod Hydrochloride Phase 1, Phase 2
29 Immunosuppressive Agents Phase 1, Phase 2
30 Immunologic Factors Phase 1, Phase 2
31 Dihydromevinolin Phase 2
32 Hypolipidemic Agents Phase 2
33 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
34 Lipid Regulating Agents Phase 2
35 Anticholesteremic Agents Phase 2
36 Antimetabolites Phase 2
37 L 647318 Phase 2
38 (T,G)-A-L Phase 2
39 Adjuvants, Immunologic Phase 2
40
Glatiramer Acetate Phase 2 147245-92-9 3081884
41 Antirheumatic Agents Phase 2
42 Antidepressive Agents Phase 2
43 Adrenergic Agents Phase 2
44 Antidepressive Agents, Tricyclic Phase 2
45 Excitatory Amino Acid Antagonists Phase 2
46 Respiratory System Agents Phase 2
47 Antitussive Agents Phase 2
48 Hypoglycemic Agents Phase 2
49 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
50 Anesthetics Phase 2

Interventional clinical trials:

(show top 50) (show all 62)
# Name Status NCT ID Phase Drugs
1 Pathogenesis of Rett Syndrome: Natural History and Treatment Unknown status NCT00069550 Phase 3 dextromethorphan;donepezil hydrochloride
2 Efficacy And Safety Of Risperidone In The Treatment Of Children With Autistic Disorder And Other Pervasive Developmental Disorders: A Canadian, Multicenter, Double-Blind, Placebo-Controlled Study Completed NCT00261508 Phase 3 risperidone
3 A 40-Week, Open-label Extension Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome Recruiting NCT04279314 Phase 3 Trofinetide
4 A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome Recruiting NCT04181723 Phase 3 Trofinetide
5 A Randomized, Double-blind, Placebo-controlled Trial to Investigate the Efficacy and Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome Recruiting NCT03848832 Phase 3 GWP42003-P;Placebo
6 A Double-Blind, Randomized, Placebo-Controlled, Safety and Efficacy Study of ANAVEX2-73 in Patients With Rett Syndrome Recruiting NCT04304482 Phase 2, Phase 3 ANAVEX2-73 oral liquid;Placebo oral liquid
7 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
8 An Open-label Extension Trial to Investigate the Long-term Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome Enrolling by invitation NCT04252586 Phase 3 GWP42003-P
9 Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome. Unknown status NCT03059160 Phase 2 Tridecanoic Acid
10 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
11 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
12 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)
13 A Phase 2A Randomized, Placebo Controlled Trial of EPI-743 in Children With Rett Syndrome Completed NCT01822249 Phase 2 EPI-743;Placebo
14 Pharmacological Treatment of Rett Syndrome With 3-Hydroxy-3 Methylglutaryl-coenzyme A Reductase Inhibitor-Lovastatin (Mevacor) Completed NCT02563860 Phase 2 Lovastatin
15 Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone) Completed NCT02153723 Phase 2 Glatiramer Acetate
16 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
17 Placebo Controlled Trial of Dextromethorphan in Rett Syndrome Completed NCT01520363 Phase 2 dextromethorphan;placebo
18 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
19 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
20 Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin: An Open-label, 10-subject Clinical Trial of UX007 (Triheptanoin) in the Treatment of Mitochondrial Dysfunction in Participants With Rett Syndrome, Dyskinesia, and Epilepsy Recruiting NCT02696044 Phase 2 triheptanoin
21 A Randomized, Double-blind, Placebo-controlled, Cross-over Study to Assess the Safety, Tolerability and Efficacy of Oral Ketamine for Patients With Rett Syndrome Recruiting NCT03633058 Phase 2 Ketamine
22 A Double-Blind, Randomized, Placebo-Controlled, Dose Titration Study of ANAVEX2-73 in Patients With Rett Syndrome Recruiting NCT03758924 Phase 2 ANAVEX2-73;Placebo
23 A Pilot Treatment Study of Insulin-Like Growth Factor-1 (IGF-1) in Autism Spectrum Disorder Recruiting NCT01970345 Phase 2 IGF-1;Placebo/saline
24 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
25 Cannabidivarin (CBDV) vs. Placebo in Children With Autism Spectrum Disorder (ASD) Recruiting NCT03202303 Phase 2 Cannabidivarin;Matched Placebo
26 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
27 Trial of Dextromethorphan in Rett Syndrome Terminated NCT00593957 Phase 2 Dextromethorphan;Dextromethorphan
28 An Exploratory Open-Label Phase 2 Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder Withdrawn NCT02226458 Phase 2 EPI-743
29 An Open Label, Exploratory Study to Investigate the Treatment Effect og Glatiramer Acetate (Copaxone ®) on Girls Woth Rett Syndrome Unknown status NCT02023424 Phase 1 Glatiramer Acetate (Copaxone®)
30 Pharmacological Treatment of Rett Syndrome by Stimulation of Synaptic Maturation With IGF-1 Completed NCT01253317 Phase 1 rhIGF-1
31 Ketamine for the Treatment of Rett Syndrome: An Exploratory Trial Terminated NCT02562820 Phase 1
32 The Findings of Resting-state Functional Magnetic Resonance Imaging , Susceptibility Weighted Imaging and Diffusion Spectrum Imaging in Rett Syndrome Unknown status NCT02903056
33 Brainstem Assesment in a Cohort of Very Preterm Babies (Less Than 28 Weeks) Unknown status NCT02669056
34 Rett Syndrome Natural History: Genetic and Physical Characteristics of Rett Syndrome Completed NCT00299312
35 Functional Abilities in Rett Syndrome Completed NCT00630422
36 Metabolic Evaluation of Nutrition in Rett Syndrome: Creatine Metabolism Completed NCT01198015
37 Osteoporosis in RETT Syndrome. Understanding the Mechanisms and Identification of Biomarkers. Completed NCT02110797
38 Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome Completed NCT00004773
39 Nutritional Aspects of Rett Syndrome Completed NCT00004656
40 A Systematic Metabolic Approach to the Evaluation of Nutrition in Rett Syndrome According to the Cardiorespiratory Phenotype in Dutch Rett Girls Completed NCT00786071
41 Study of the Pathogenesis of Rett Syndrome Completed NCT00004807 dextromethorphan;topiramate;Donepezil
42 Feasibility and Effectiveness of an Individualized 12-week 'Uptime' Participation Intervention (U-PART) in Girls and Women With Rett Syndrome Completed NCT03848442
43 Search for New Genes Involved in Molecular Etiology of Rett Syndrome Through Comparative Genomic Hybridization on DNA Microarrays Completed NCT02885090
44 Effects of Creatine Supplementation in Rett Syndrome: A Randomized, Placebo-controlled Trial Completed NCT01147575
45 The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome Completed NCT00891956
46 Sleep Abnormalities in Rare Genetic Disorders: Angelman Syndrome, Rett Syndrome, and Prader Willi Completed NCT02670694
47 Study of Efficacy of Zoledronic Acid in the Management of Osteoporosis in Children With Multiple Disabilities Completed NCT03301285 Zoledronic Acid
48 Advanced Grandparental Age as a Risk Factor for Autism and Other Pervasive Developmental Disorders Completed NCT00464477
49 Understanding Caregiver Adaptation to Pervasive Developmental Disorders Completed NCT00496210
50 Rett Syndrome, MECP2 Duplication, and Rett-Related Disorders Consortium, Rare Disease Clinical Research Network: Neurophysiologic Correlates Recruiting NCT03077308

Search NIH Clinical Center for Rett Syndrome

Cochrane evidence based reviews: rett syndrome

Genetic Tests for Rett Syndrome

Genetic tests related to Rett Syndrome:

# Genetic test Affiliating Genes
1 Rett Syndrome 29 MECP2
2 Atypical Rett Syndrome 29
3 Rett Syndrome, Preserved Speech Variant 29

Anatomical Context for Rett Syndrome

MalaCards organs/tissues related to Rett Syndrome:

40
Brain, Eye, Bone, Testes, Cortex, Cerebellum, Skeletal Muscle

Publications for Rett Syndrome

Articles related to Rett Syndrome:

(show top 50) (show all 3315)
# 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. 56 6 61 54
16630165 2006
2
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 56 61 54 6
15057977 2004
3
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. 61 54 6 56
15034579 2004
4
Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. 54 61 56 6
12966522 2003
5
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. 61 54 56 6
11896459 2002
6
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 54 61 6 56
10508514 1999
7
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). 61 56 6
18562141 2009
8
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. 56 6 61
18989701 2009
9
p.R270X MECP2 mutation and mortality in Rett syndrome. 56 6 61
16077729 2005
10
Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome. 61 56 6
15857422 2005
11
De novo MECP2 mutation in a 46,XX male patient with Rett syndrome. 61 6 56
12481990 2002
12
Infantile hypotonia as a presentation of Rett syndrome. 61 6 56
12210319 2002
13
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. 61 56 6
11283202 2001
14
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. 61 6 56
11022934 2000
15
Preserved speech variant is allelic of classic Rett syndrome. 61 6 56
10854091 2000
16
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. 61 56 6
10577905 1999
17
Cortical reflex myoclonus in Rett syndrome. 61 6 56
9546328 1998
18
[On a unusual brain atrophy syndrome in hyperammonemia in childhood]. 56 6
5300597 1966
19
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 54 61 6
17089071 2007
20
Very mild cases of Rett syndrome with skewed X inactivation. 54 56 61
16690727 2006
21
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. 56 54 61
16183801 2006
22
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. 61 54 56
12655490 2003
23
Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. 56 61 54
12160743 2002
24
Preserved speech variants of the Rett syndrome: molecular and clinical analysis. 56 54 61
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. 56 61 54
11432961 2001
26
Two affected boys in a Rett syndrome family: clinical and molecular findings. 54 61 56
11071498 2000
27
Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice. 56 61
26469053 2015
28
Wild-type microglia arrest pathology in a mouse model of Rett syndrome. 56 61
22425995 2012
29
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. 6 61
21441262 2011
30
Rett syndrome: revised diagnostic criteria and nomenclature. 61 56
21154482 2010
31
Rett syndrome diagnostic criteria: lessons from the Natural History Study. 61 56
21104896 2010
32
L1 retrotransposition in neurons is modulated by MeCP2. 61 56
21085180 2010
33
A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. 61 56
21074045 2010
34
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. 56 61
21068835 2010
35
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. 61 6
19578037 2010
36
Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females. 6 61
19564653 2010
37
Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome. 56 61
19365833 2009
38
The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform. 61 6
19034540 2009
39
Brain metabolism in Rett syndrome: age, clinical, and genotype correlations. 61 56
19194883 2009
40
FOXG1 is responsible for the congenital variant of Rett syndrome. 61 6
18571142 2008
41
Investigating genotype-phenotype relationships in Rett syndrome using an international data set. 6 61
18332345 2008
42
An explanation for another familial case of Rett syndrome: maternal germline mosaicism. 56 61
17440498 2007
43
MECP2 mutations in males. 61 6
17351020 2007
44
FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice. 56 61
17309881 2007
45
Germline mosaicism for a MECP2 mutation in a man with two Rett daughters. 61 56
16965328 2006
46
Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2. 6 61
16155192 2006
47
NTNG1 mutations are a rare cause of Rett syndrome. 61 56
16502428 2006
48
The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database. 61 56
16389588 2006
49
Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome. 56 61
16002417 2005
50
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. 56 61
15870826 2005

Variations for Rett Syndrome

ClinVar genetic disease variations for Rett Syndrome:

6 (show top 50) (show all 623) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MECP2 NM_001110792.2(MECP2):c.1125_1165del (p.Lys376fs)deletion Pathogenic 393482 rs1064792898 X:153296150-153296190 X:154030699-154030739
2 MECP2 NM_001110792.2(MECP2):c.1060_1061insAG (p.Pro354fs)insertion Pathogenic 393483 rs1060499620 X:153296254-153296255 X:154030803-154030804
3 MECP2 NM_001110792.2(MECP2):c.714del (p.Gln239fs)deletion Pathogenic 393485 rs1060499621 X:153296601-153296601 X:154031150-154031150
4 MECP2 NM_001110792.2(MECP2):c.1194_*261del (p.Pro399fs)deletion Pathogenic 393488 rs1557134621 X:153295557-153296121 X:154030106-154030670
5 MECP2 NC_000023.10:g.(?_153287264)_(153363188_?)dupduplication Pathogenic 417368 X:153287264-153363188
6 MECP2 NM_001110792.2(MECP2):c.786_810dup (p.Ala271delinsProArgGlnGluAlaLysSerTer)duplication Pathogenic 424884 rs1064797104 X:153296504-153296505 X:154031053-154031054
7 MECP2 NM_001110792.2(MECP2):c.377_385del (p.Gly126_Ser128del)deletion Pathogenic 431705 rs1557137675 X:153297686-153297694 X:154032235-154032243
8 MECP2 NM_001110792.2(MECP2):c.1102_1202del (p.Ser369fs)deletion Pathogenic 435841 rs1557135664 X:153296113-153296213 X:154030662-154030762
9 MECP2 NM_001110792.2(MECP2):c.251del (p.Pro84fs)deletion Pathogenic 435842 rs61754441 X:153297820-153297820 X:154032369-154032369
10 GABBR2 NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr)SNV Pathogenic 446211 rs922847767 9:101133817-101133817 9:98371535-98371535
11 MECP2 NM_001110792.2(MECP2):c.1173dup (p.Val392fs)duplication Pathogenic 548031 rs1557135793 X:153296141-153296142 X:154030690-154030691
12 MECP2 NM_001110792.2(MECP2):c.737_1311del (p.Ala246fs)deletion Pathogenic 584453 rs1569548274 X:153296004-153296578 X:154030553-154031127
13 MECP2 NM_001110792.2(MECP2):c.917_1208del (p.Arg306fs)deletion Pathogenic 635826 X:153296107-153296398 X:154030656-154030947
14 MECP2 NM_001110792.2(MECP2):c.648_649AG[1] (p.Glu217fs)short repeat Pathogenic 635824 X:153296664-153296665 X:154031213-154031214
15 MECP2 NM_001110792.2(MECP2):c.95del (p.Gly32fs)deletion Pathogenic 635825 X:153297976-153297976 X:154032525-154032525
16 MECP2 NM_001110792.2(MECP2):c.988dup (p.Glu330fs)duplication Pathogenic 637994 X:153296326-153296327 X:154030875-154030876
17 MECP2 NM_001110792.2(MECP2):c.1153_1207del (p.Ser385fs)deletion Pathogenic 804123 X:153296108-153296162 X:154030657-154030711
18 MECP2 NM_001110792.2(MECP2):c.785dup (p.Gly264fs)duplication Pathogenic 804124 X:153296529-153296530 X:154031078-154031079
19 MECP2 NM_001110792.2(MECP2):c.541G>T (p.Glu181Ter)SNV Pathogenic 804126 X:153296774-153296774 X:154031323-154031323
20 MECP2 NM_001110792.2(MECP2):c.310_311dup (p.Pro105fs)duplication Pathogenic 804128 X:153297759-153297760 X:154032308-154032309
21 MECP2 NM_001110792.2(MECP2):c.230C>T (p.Ser77Leu)SNV Pathogenic 816914 X:153297841-153297841 X:154032390-154032390
22 MECP2 NC_000023.10:g.153296106_153296275delins[NC_000008.10:g.50305003_50392184inv;TTACACAG]indel Pathogenic 916025
23 CDKL5 NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe)SNV Pathogenic 11496 rs122460157 X:18600062-18600062 X:18581942-18581942
24 CDKL5 NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser)SNV Pathogenic 11497 rs61749700 X:18602444-18602444 X:18584324-18584324
25 CDKL5 NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter)SNV Pathogenic 11500 rs122460158 X:18646494-18646494 X:18628374-18628374
26 CDKL5 NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val)SNV Pathogenic 11502 rs122460159 X:18582616-18582616 X:18564496-18564496
27 CDKL5 NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr)SNV Pathogenic 11503 rs62641235 X:18593543-18593543 X:18575423-18575423
28 MECP2 MECP2, 11-BP DEL, EX1deletion Pathogenic 11836
29 MECP2 NM_001110792.2(MECP2):c.44_57dup (p.Arg20fs)duplication Pathogenic 804131 X:153363065-153363066 X:154097608-154097609
30 MECP2 NC_000023.10:g.153296228_153298081deldeletion Pathogenic 804290 X:153296228-153298081
31 MECP2 NM_001110792.2(MECP2):c.1089_*2300del (p.Pro363_Ter499delinsXaa)deletion Pathogenic 813730 X:153293518-153296226 X:154028067-154030775
32 MECP2 NM_001110792.2(MECP2):c.500T>C (p.Phe167Ser)SNV Pathogenic 11810 rs28934905 X:153296815-153296815 X:154031364-154031364
33 MECP2 MECP2, 1-BP DEL, 806Gdeletion Pathogenic 11812
34 MECP2 MECP2, 44-BP DEL, NT1152deletion Pathogenic 11813
35 MECP2 NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)SNV Pathogenic 11815 rs61750240 X:153296471-153296471 X:154031020-154031020
36 MECP2 MECP2, IVS2AS, A-G, -2SNV Pathogenic 11816
37 MECP2 NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter)SNV Pathogenic 11817 rs63094662 X:153296099-153296099 X:154030648-154030648
38 MECP2 NM_001110792.2(MECP2):c.203_204del (p.Pro68fs)deletion Pathogenic 11818 rs267608434 X:153297867-153297868 X:154032416-154032417
39 MECP2 MECP2, 41-BP DEL, NT1157deletion Pathogenic,risk factor 11820
40 MECP2 MECP2, 41-BP DEL, NT1159deletion Pathogenic 11821
41 MECP2 MECP2, 44-BP DEL, NT1159deletion Pathogenic 11822
42 MECP2 NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)SNV Pathogenic 11824 rs28935468 X:153296363-153296363 X:154030912-154030912
43 MECP2 MECP2, 1-BP DEL, 76Cdeletion Pathogenic 11826
44 MECP2 NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)SNV Pathogenic 11828 rs61748421 X:153296777-153296777 X:154031326-154031326
45 MECP2 MECP2, 52-BP DELdeletion Pathogenic 11832
46 MECP2 NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter)SNV Pathogenic 11833 rs61748396 X:153296856-153296856 X:154031405-154031405
47 MECP2 NM_001110792.2(MECP2):c.1399G>T (p.Glu467Ter)SNV Pathogenic 11834 rs104894864 X:153295916-153295916 X:154030465-154030465
48 MECP2 NM_001110792.2(MECP2):c.334C>G (p.Leu112Val)SNV Pathogenic 11835 rs28935168 X:153297737-153297737 X:154032286-154032286
49 MECP2 NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu)SNV Pathogenic 11841 rs61749715 X:153296605-153296605 X:154031154-154031154
50 MECP2 NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser)SNV Pathogenic 11843 rs61751449 X:153296315-153296315 X:154030864-154030864

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

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

Copy number variations for Rett Syndrome from CNVD:

7 (show top 50) (show all 64)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 22472 1 16698906 17124554 Copy number CROCC Rett syndrome
2 22473 1 16698906 17124554 Copy number MSTP9 Rett syndrome
3 22474 1 16698906 17124554 Duplication or deletion ESPNP Rett syndrome
4 25621 1 192100000 197500000 Copy number CFHR1 Rett syndrome
5 25622 1 192100000 197500000 Copy number CFHR3 Rett syndrome
6 28592 1 223731557 223870819 Duplication ENAH Rett syndrome
7 33645 1 46852126 246794522 Duplication or deletion OR2T34 Rett syndrome
8 43286 10 46100000 50100000 Copy number GPRIN2 Rett syndrome
9 43406 10 46396163 46568496 Copy number 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 duplication OR11H13P Rett syndrome
20 89640 15 18810004 19537035 Deletion Rett syndrome
21 91690 15 32523241 32572315 Deletion Rett syndrome
22 99799 16 28732295 28952218 Copy number ATP2A1 Rett syndrome
23 99800 16 28732295 28952218 Copy number CD19 Rett syndrome
24 99801 16 28732295 28952218 Copy number LAT Rett syndrome
25 99802 16 28732295 28952218 Copy number 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 deletion 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

GO Terms for Rett Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.13 UBE3A STXBP1 SIN3A NCOR1 MECP2 MBD4
2 nuclear chromatin GO:0000790 9.85 NCOR1 HDAC1 FOXG1 DLX6 DLX5 CREB1
3 transcriptional repressor complex GO:0017053 9.5 SIN3A NCOR1 HDAC1
4 histone deacetylase complex GO:0000118 9.33 SIN3A NCOR1 HDAC1
5 chromatin GO:0000785 9.17 SIN3A MECP2 MBD4 JMJD1C HDAC1 CREB1
6 Sin3 complex GO:0016580 9.13 SIN3A NCOR1 HDAC1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.89 SIN3A NCOR1 MECP2 HDAC1 FOXG1
2 positive regulation of neuron differentiation GO:0045666 9.61 SIN3A FOXG1 BDNF
3 axonogenesis GO:0007409 9.58 NTNG1 DLX5 CREB1
4 head development GO:0060322 9.55 DLX6 DLX5
5 anatomical structure formation involved in morphogenesis GO:0048646 9.54 DLX6 DLX5
6 memory GO:0007613 9.54 MECP2 CREB1 BDNF
7 negative regulation of myotube differentiation GO:0010832 9.52 HDAC1 BDNF
8 embryo development GO:0009790 9.51 DLX6 DLX5
9 inner ear morphogenesis GO:0042472 9.5 FOXG1 DLX6 DLX5
10 negative regulation of androgen receptor signaling pathway GO:0060766 9.48 NCOR1 HDAC1
11 protein deacetylation GO:0006476 9.46 SIN3A HDAC1
12 negative regulation of synaptic transmission, GABAergic GO:0032229 9.26 STXBP1 BDNF
13 circadian rhythm GO:0007623 9.26 NCOR1 HDAC1 CREB1 BDNF
14 axon target recognition GO:0007412 9.16 STXBP1 BDNF
15 rhythmic process GO:0048511 9.02 UBE3A SIN3A NCOR1 HDAC1 CREB1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.88 SIN3A MECP2 FOXG1 DLX6 DLX5 CREB1
2 DNA binding GO:0003677 9.81 SIN3A NCOR1 MECP2 MBD4 HDAC1 FOXG1
3 transcription corepressor activity GO:0003714 9.62 SIN3A NCOR1 MECP2 HDAC1
4 protein N-terminus binding GO:0047485 9.61 STXBP1 MECP2 HDAC1
5 transcription regulatory region DNA binding GO:0044212 9.56 NCOR1 HDAC1 DLX5 CREB1
6 protein deacetylase activity GO:0033558 9.37 SIN3A HDAC1
7 RNA polymerase II activating transcription factor binding GO:0001102 9.13 SIN3A NCOR1 CREB1
8 transcription regulatory region sequence-specific DNA binding GO:0000976 9.02 SIN3A NCOR1 JMJD1C HDAC1 DLX5

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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