RTT
MCID: RTT002
MIFTS: 83

Rett Syndrome (RTT)

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

Aliases & Classifications for Rett Syndrome

MalaCards integrated aliases for Rett Syndrome:

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

Characteristics:

Orphanet epidemiological data:

60
rett syndrome
Inheritance: X-linked dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Infancy,Neonatal; Age of death: adult;
atypical rett syndrome
Inheritance: Autosomal dominant,X-linked dominant; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

58
Miscellaneous:
most cases are sporadic
prevalence 1/10,000-1/15,000 female births
initially normal for first 6-18 months which is then followed by withdrawal and regression
four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year)
stage ii, rapid developmental regression (onset 1-4 years)
stage iii, pseudostationary period (onset 2-10 years)
stage iv, late motor deterioration (when ambulation ceases)
de novo mutations occur almost exclusively on the paternally derived x chromosome

Inheritance:
x-linked dominant


HPO:

33
rett syndrome:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Rett Syndrome

NIH Rare Diseases : 54 Atypical Rett syndrome is a neurodevelopmental disorder that is diagnosed when a child has some of the symptoms of Rett syndrome but does not meet all the diagnostic criteria. Like the classic form of Rett syndrome, atypical Rett syndrome mostly affects girls. Children with atypical Rett syndrome can have symptoms that are either milder or more severe than those seen in Rett syndrome. Several subtypes of atypical Rett syndrome have been defined:The early-onset seizure type is characterized by seizures in the first months of life with later development of Rett features (including developmental problems, loss of language skills, and repeated hand wringing or hand washing movements). It is frequently caused by mutations in the X-linked CDKL5 gene (Xp22). The congenital variant is the most severe form of atypical Rett syndrome, with onset of classic Rett features during the first three months of life. This variant is generally caused by mutations in the FOXG1 gene (14q11-q13). The forme fruste is a milder variant with onset in early childhood and an incomplete and prolonged course. The late childhood regression form is characterized by a normal head circumference and by a more gradual and later onset (late childhood) regression of language and motor skills. The preserved speech variant is marked by recovery of some verbal and manual skills and is caused in at least some cases by mutations in the MECP2 (Xq28) gene, which is also responsible for the majority of cases of classic Rett syndrome. Diagnosis relies on clinical evaluation using the diagnostic criteria for atypical Rett syndrome which was defined by Hagberg in 1994. Molecular genetic testing may confirm the diagnosis.

MalaCards based summary : Rett Syndrome, also known as atypical rett syndrome, is related to pervasive developmental disorder and epilepsy, and has symptoms including seizures, tremor and constipation. An important gene associated with Rett Syndrome is MECP2 (Methyl-CpG Binding Protein 2), and among its related pathways/superpathways are Neuroscience and Chromatin Regulation / Acetylation. The drugs Dextromethorphan and Donepezil have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and bone, and related phenotypes are intellectual disability and seizures

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

Genetics Home Reference : 26 Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and about three-quarters have a small head size (microcephaly). Other signs and symptoms that can develop include breathing abnormalities, spitting or drooling, unusual eye movements such as intense staring or excessive blinking, cold hands and feet, irritability, sleep disturbances, seizures, and an abnormal side-to-side curvature of the spine (scoliosis).

OMIM : 58 Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in females. It is characterized by arrested development between 6 and 18 months of age, regression of acquired skills, loss of speech, stereotypic movements (classically of the hands), microcephaly, seizures, and mental retardation. Rarely, classically affected males with somatic mosaicism or an extra X chromosome have been described (Moog et al., 2003). (312750)

MedlinePlus : 44 Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include Loss of speech Loss of hand movements such as grasping Compulsive movements such as hand wringing Balance problems Breathing problems Behavior problems Learning problems or intellectual disability Rett syndrome has no cure. You can treat some of the symptoms with medicines, surgery, and physical and speech therapy. Most people with Rett syndrome live into middle age and beyond. They will usually need care throughout their lives. NIH: National Institute of Child Health and Human Development

NINDS : 55 Rett syndrome is a childhood neurodevelopmental disorder that affects females almost exclusively.  The child generally appears to grow and develop normally, before symptoms begin.  Loss of muscle tone is usually the first symptom. Other early symptoms may include a slowing of development, problems crawling or walking, and diminished eye contact. As the syndrome progresses, a child will lose purposeful use of her hands and the ability to speak. Compulsive hand movements such as wringing and washing follow the loss of functional use of the hands. The inability to perform motor functions is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech.

UniProtKB/Swiss-Prot : 76 Rett syndrome: An X-linked dominant neurodevelopmental disorder, and one of the most common causes of mental retardation in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements, and develop microcephaly, seizures, autism, ataxia, mental retardation and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood.

Wikipedia : 77 Rett syndrome (RTT) is a genetic brain disorder which typically becomes apparent after 6 to 18 months of... more...

Related Diseases for Rett Syndrome

Diseases in the Rett Syndrome family:

Rett Syndrome, Congenital Variant

Diseases related to Rett Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 502)
# Related Disease Score Top Affiliating Genes
1 pervasive developmental disorder 32.7 BDNF CDKL5 FOXG1 MECP2 UBE3A
2 epilepsy 31.2 BDNF CDKL5 MECP2 STXBP1 UBE3A
3 encephalopathy 31.0 CDKL5 MECP2 STXBP1
4 angelman syndrome 30.4 CDKL5 MBD4 MECP2 UBE3A
5 microcephaly 30.0 CDKL5 FOXG1 MECP2 STXBP1 UBE3A
6 rett syndrome, congenital variant 12.5
7 epileptic encephalopathy, early infantile, 2 12.1
8 rothmund-thomson syndrome 12.1
9 atypical teratoid rhabdoid tumor 11.9
10 chromosome 16p13.3 deletion syndrome, proximal 11.8
11 rhabdoid cancer 11.6
12 dengue disease 11.3
13 rapadilino syndrome 11.3
14 encephalopathy, neonatal severe, due to mecp2 mutations 11.3
15 mental retardation, x-linked, syndromic 13 11.0
16 coffin-lowry syndrome 11.0
17 neurodevelopmental disorder with poor language and loss of hand skills 11.0
18 asperger syndrome 11.0
19 cdkl5 deficiency disorder 11.0
20 childhood apraxia of speech 11.0
21 rubinstein-taybi syndrome 1 11.0
22 rhabdoid tumor predisposition syndrome 1 11.0
23 congenital toxoplasmosis 11.0
24 autism 10.6
25 malaria 10.6
26 leukemia 10.6
27 scoliosis 10.5
28 breast cancer 10.5
29 isolated split hand-split foot malformation 10.5 DLX5 DLX6
30 hepatitis 10.5
31 specific developmental disorder 10.4 BDNF CDKL5 MECP2
32 mental retardation, autosomal dominant 13 10.4 HDAC1 SIN3A
33 ocular dominance 10.4 BDNF CHAT CREB1
34 neonatal hypoxic and ischemic brain injury 10.4 BDNF TH
35 amnestic disorder 10.4 BDNF CHAT CREB1
36 mouth disease 10.4
37 toxic encephalopathy 10.4 BDNF CREB1 TH
38 gait apraxia 10.4 CDKL5 MECP2
39 influenza 10.3
40 visual epilepsy 10.3 CDKL5 MECP2 STXBP1 UBE3A
41 tendinosis 10.3 BDNF CHAT TH
42 hepatitis a 10.3
43 diarrhea 10.3
44 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 10.3 DLX5 DLX6
45 acute promyelocytic leukemia 10.3
46 melanoma 10.3
47 myeloid leukemia 10.3
48 sarcoma 10.3
49 huntington disease 10.3 BDNF CHAT CREB1 NCOR1
50 dengue virus 10.2

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



Diseases related to Rett Syndrome

Symptoms & Phenotypes for Rett Syndrome

Human phenotypes related to Rett Syndrome:

60 33 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001250
3 spasticity 60 33 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001257
4 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002353
5 dysphasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002357
6 developmental regression 60 33 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0002376
7 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
8 thick vermilion border 60 33 hallmark (90%) Very frequent (99-80%) HP:0012471
9 microcephaly 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000252
10 gastroesophageal reflux 60 33 hallmark (90%) Very frequent (99-80%) HP:0002020
11 stereotypy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000733
12 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
13 abnormality of movement 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100022
14 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
15 abnormality of the fingernails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001231
16 ventriculomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002119
17 cerebral cortical atrophy 60 33 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0002120
18 aplasia/hypoplasia of the cerebellum 60 33 hallmark (90%) Very frequent (99-80%) HP:0007360
19 underdeveloped nasal alae 60 33 hallmark (90%) Very frequent (99-80%) HP:0000430
20 wide mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000154
21 clinodactyly of the 5th finger 60 33 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0004209
22 abnormality of the metacarpal bones 60 33 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001163
23 apraxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002186
24 nephrolithiasis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000787
25 fine hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002213
26 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
27 wide nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000445
28 abnormality of the antitragus 60 33 hallmark (90%) Very frequent (99-80%) HP:0009896
29 depressivity 60 33 frequent (33%) Frequent (79-30%) HP:0000716
30 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
31 respiratory insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093
32 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
33 abnormality of the dentition 60 33 frequent (33%) Frequent (79-30%) HP:0000164
34 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
35 autism 60 33 frequent (33%) Frequent (79-30%) HP:0000717
36 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
37 muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001324
38 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
39 tetraplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002445
40 self-injurious behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0100716
41 macrotia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000400
42 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
43 joint stiffness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001387
44 decreased muscle mass 60 33 occasional (7.5%) Occasional (29-5%) HP:0003199
45 acrocyanosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001063
46 arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011675
47 hemiplegia/hemiparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004374
48 arthrogryposis multiplex congenita 60 33 occasional (7.5%) Occasional (29-5%) HP:0002804
49 narrow foot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001786
50 arnold-chiari malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002308

Symptoms via clinical synopsis from OMIM:

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

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

Growth Weight:
cachexia

Head And Neck Teeth:
bruxism

Skeletal Feet:
small feet
cold feet
vasomotor disturbance

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux

Skeletal Spine:
scoliosis
kyphosis

Growth Height:
short stature

Cardiovascular Heart:
prolonged qtc interval
t-wave abnormalities

Muscle Soft Tissue:
muscle wasting

Respiratory:
periodic apnea while awake
intermittent hyperventilation
breath holding

Clinical features from OMIM:

312750

UMLS symptoms related to Rett Syndrome:


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

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

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

MGI Mouse Phenotypes related to Rett Syndrome:

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

Drugs & Therapeutics for Rett Syndrome

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

(show top 50) (show all 91)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dextromethorphan Approved Phase 3,Phase 2,Not Applicable 125-71-3 5362449 5360696
2
Donepezil Approved Phase 3,Not Applicable 120014-06-4 3152
3
Guaifenesin Approved, Investigational, Vet_approved Phase 3,Phase 2,Not Applicable 93-14-1 3516
4
Ethanol Approved Phase 3,Phase 2 64-17-5 702
5 Strawberry Approved Phase 3,Phase 2
6
Risperidone Approved, Investigational Phase 3 106266-06-2 5073
7
Dopamine Approved Phase 3 62-31-7, 51-61-6 681
8
Stiripentol Approved Phase 3 49763-96-4
9
tannic acid Approved Phase 3,Phase 2 1401-55-4
10
Benzocaine Approved, Investigational Phase 3,Phase 2 94-09-7, 1994-09-7 2337
11
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
12
Glutamic Acid Approved, Nutraceutical Phase 3,Phase 2 56-86-0 33032
13
Beta carotene Approved, Nutraceutical Phase 3 7235-40-7
14 Neurotransmitter Agents Phase 3,Phase 2,Phase 1,Not Applicable
15 Nootropic Agents Phase 3,Not Applicable
16 Excitatory Amino Acid Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
17 Cholinesterase Inhibitors Phase 3,Not Applicable
18 Antitussive Agents Phase 3,Phase 2,Not Applicable
19 Chlorpheniramine, phenylpropanolamine drug combination Phase 3,Phase 2,Not Applicable
20 Respiratory System Agents Phase 3,Phase 2,Not Applicable
21 Excitatory Amino Acids Phase 3,Phase 2,Phase 1,Not Applicable
22 Cholinergic Agents Phase 3,Not Applicable
23 Anticonvulsants Phase 3,Phase 2,Not Applicable
24 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
25 Epidiolex Phase 3,Phase 2,Phase 1
26 Central Nervous System Depressants Phase 3,Phase 2,Phase 1
27 Serotonin Antagonists Phase 3
28 Tranquilizing Agents Phase 3
29 Antipsychotic Agents Phase 3
30 Serotonin Agents Phase 3,Phase 1,Phase 2
31 Dopamine Antagonists Phase 3
32 Psychotropic Drugs Phase 3,Phase 2
33 Dopamine Agents Phase 3
34 Serotonin Uptake Inhibitors Phase 3,Phase 1,Phase 2
35 Neurotransmitter Uptake Inhibitors Phase 3,Phase 2,Phase 1
36 Carotenoids Phase 3
37 GABA-A Receptor Agonists Phase 3
38 GABA Agents Phase 3
39 Anti-Anxiety Agents Phase 3
40 GABA Agonists Phase 3
41
Serotonin Investigational, Nutraceutical Phase 3,Phase 1,Phase 2,Not Applicable 50-67-9 5202
42
Mecasermin Approved, Investigational Phase 2,Phase 1 68562-41-4
43
Zinc Approved, Investigational Phase 2 7440-66-6 32051
44
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
45
Desipramine Approved, Investigational Phase 2 50-47-5 2995
46
Verapamil Approved Phase 2 52-53-9 2520
47
Ketamine Approved, Vet_approved Phase 2,Phase 1 6740-88-1 3821
48
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
49 Immunologic Factors Phase 1, Phase 2,Phase 2
50 Immunosuppressive Agents Phase 1, Phase 2,Phase 2

Interventional clinical trials:

(show top 50) (show all 72)
# Name Status NCT ID Phase Drugs
1 Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome Unknown status NCT00069550 Phase 3 dextromethorphan;donepezil hydrochloride
2 GWPCARE2 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Unknown status NCT02224703 Phase 3 GWP42003-P;Placebo Control
3 A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD) Completed NCT00261508 Phase 3 risperidone
4 A Two-Part Study to Investigate the Dose-Ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children ≥2 Years Old and Young Adults With Dravet Syndrome Completed NCT02926898 Phase 3 ZX008 - 0.2 mg/kg/day;ZX008 - 0.4 mg/kg/day;ZX008 - 20 mg/day maximum dose;Matching Placebo
5 Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet Syndrome (GWPCARE1) Completed NCT02091375 Phase 3 GWP42003-P 20 mg/kg/day Dose;Placebo control
6 A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Recruiting NCT02826863 Phase 3 ZX008 - 0.8 mg/kg/day;ZX008 - 0.2 mg/kg/day;Placebo
7 Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms Active, not recruiting NCT02790034 Phase 2, Phase 3 Sarizotan;Placebo
8 A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) in Children and Young Adults With Dravet Syndrome Active, not recruiting NCT02682927 Phase 3 ZX008 (Fenfluramine Hydrochloride);Matching Placebo
9 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT02823145 Phase 3 ZX008 (Fenfluramine Hydrochloride)
10 A Study to Assess the Usability of the Embrace Seizure Detection Watch in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT03299842 Phase 3 ZX008 (Fenfluramine Hydrochloride)
11 Efficacy and Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome Not yet recruiting NCT03848832 Phase 3 GWP42003-P;Placebo
12 Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Terminated NCT02187809 Phase 3 Clobazam
13 Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Participants With Inadequately Controlled Dravet Syndrome Withdrawn NCT02318563 Phase 3 Cannabidiol Oral Solution;Placebo Solution
14 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
15 Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome. Unknown status NCT03059160 Phase 2 Tridecanoic Acid
16 Study to Assess Safety and Efficacy of Fingolimod in Children With Rett Syndrome Completed NCT02061137 Phase 1, Phase 2 fingolimod (FTY720)
17 Phase 2 Study of EPI-743 for Treatment of Rett Syndrome Completed NCT01822249 Phase 2 EPI-743;Placebo
18 Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone) Completed NCT02153723 Phase 2 Glatiramer Acetate
19 Treatment of Rett Syndrome With Recombinant Human IGF-1 Completed NCT01777542 Phase 2 Recombinant Human Insulin Growth Factor 1 (rhIGF-1);Placebo
20 Pharmacological Treatment of Rett Syndrome With Statins Completed NCT02563860 Phase 2 Lovastatin
21 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
22 A Safety Study of NNZ-2566 in Patients With Rett Syndrome Completed NCT01703533 Phase 2 NNZ-2566;Placebo
23 A Safety Study of NNZ-2566 in Pediatric Rett Syndrome Completed NCT02715115 Phase 2 NNZ-2566;Placebo
24 Placebo Controlled Trial of Dextromethorphan in Rett Syndrome Completed NCT01520363 Phase 2 dextromethorphan;placebo
25 A Dose-ranging Pharmacokinetics and Safety Study of GWP42003-P in Children With Dravet Syndrome (GWPCARE1) Completed NCT02091206 Phase 2 GWP42003-P 5 mg/kg/day Dose;Placebo control;GWP42003-P 10 mg/kg/day Dose;GWP42003-P 20 mg/kg/day Dose
26 Verapamil as Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
27 A Study to Evaluate Ketamine for the Treatment of Rett Syndrome Recruiting NCT03633058 Phase 2 Ketamine
28 Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin Recruiting NCT02696044 Phase 2 triheptanoin
29 Study of ANAVEX2-73 in Patients With Rett Syndrome Recruiting NCT03758924 Phase 2 ANAVEX2-73;Placebo
30 A Multicenter, Open-label, Pilot Study of TAK-935 (OV935) in Participants With 15Q Duplication Syndrome or Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Disorder (ARCADE STUDY) Recruiting NCT03694275 Phase 2 TAK-935
31 A Study to Assess the Safety and Tolerability of ZX008 in Children and Young Adults With DS or LGS Currently Taking CBD Active, not recruiting NCT03467113 Phase 1, Phase 2 ZX008 02 and 0.8 mg/kg/day
32 Trial of Dextromethorphan in Rett Syndrome Terminated NCT00593957 Phase 2 Dextromethorphan;Dextromethorphan
33 An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder Withdrawn NCT02226458 Phase 2 EPI-743
34 An Open Label, Exploratory Study to Investigate the Treatment Effect of Glatiramer Acetate on Girls Woth Rett Syndrome Unknown status NCT02023424 Phase 1 Glatiramer Acetate (Copaxone®)
35 Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection) Completed NCT01253317 Phase 1 rhIGF-1
36 An Exploratory Trial of Ketamine for the Treatment of Rett Syndrome Terminated NCT02562820 Phase 1
37 The Findings of MR Imaging in Rett Syndrome Unknown status NCT02903056
38 'Uptime' Participation Intervention in Girls and Women With Rett Syndrome Completed NCT03848442 Not Applicable
39 Creatine Metabolism in Rett Syndrome Completed NCT01198015
40 Effects of Creatine Supplementation in Rett Syndrome Completed NCT01147575 Not Applicable
41 Metabolic Evaluation of Nutrition in Rett Syndrome Completed NCT00786071
42 The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome Completed NCT00891956
43 Osteoporosis in RETT Syndrome Completed NCT02110797 Not Applicable
44 Functional Abilities in Rett Syndrome Completed NCT00630422
45 Genetic and Physical Characteristics of Rett Syndrome Completed NCT00299312
46 New Genes Involved in Molecular Etiology of Rett Syndrome Through DNA Microarray Comparative Genomic Hybridization Completed NCT02885090 Not Applicable
47 Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW Completed NCT02670694
48 Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome Completed NCT00004773
49 Nutritional Aspects of Rett Syndrome Completed NCT00004656 Not Applicable
50 Study of the Pathogenesis of Rett Syndrome Completed NCT00004807 Not Applicable dextromethorphan;topiramate;Donepezil

Search NIH Clinical Center for Rett Syndrome

Cochrane evidence based reviews: rett syndrome

Genetic Tests for Rett Syndrome

Genetic tests related to Rett Syndrome:

# Genetic test Affiliating Genes
1 Rett Syndrome 30 MECP2
2 Atypical Rett Syndrome 30
3 Rett Syndrome, Zappella Variant 30

Anatomical Context for Rett Syndrome

MalaCards organs/tissues related to Rett Syndrome:

42
Brain, Eye, Bone, Testes, Cortex, Skeletal Muscle, T Cells

Publications for Rett Syndrome

Articles related to Rett Syndrome:

(show top 50) (show all 1941)
# Title Authors Year
1
Biliary Tract Disease in Girls and Young Women with Rett Syndrome. ( 30664568 )
2019
2
A Coordinated Attack: Rett Syndrome Therapeutic Development. ( 30905360 )
2019
3
Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes. ( 30907210 )
2019
4
Reduced computational modeling of Kölliker-Fuse contributions to breathing patterns in Rett syndrome. ( 30908648 )
2019
5
Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome. ( 28969435 )
2019
6
Behavioral profiles in Rett syndrome: Data from the natural history study. ( 30217666 )
2019
7
Psychomotor Dysfunction in Rett Syndrome: Insights into the Neurochemical and Circuit Roots. ( 30430747 )
2019
8
The Treatment of Hypersalivation in Rett Syndrome with Botulinum Toxin: Efficacy and Clinical Implications. ( 30617838 )
2019
9
Spoken word processing in Rett syndrome: Evidence from event-related potentials. ( 30630072 )
2019
10
Disturbed redox homeostasis and oxidative stress: Potential players in the developmental regression in Rett syndrome. ( 30639673 )
2019
11
The cost of Rett syndrome. ( 30644545 )
2019
12
Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder. ( 30649225 )
2019
13
Rett syndrome: Teenagers' and young adults' activities, usage of time and responses during an ordinary week - a diary study. ( 30663472 )
2019
14
The effectiveness of music therapy for individuals with Rett syndrome and their families. ( 30670340 )
2019
15
Attentional shifting and disengagement in Rett syndrome. ( 30688490 )
2019
16
13-HODE, 9-HODE and ALOX15 as potential players in Rett syndrome OxInflammation. ( 30743046 )
2019
17
Antiglycative Activity and RAGE Expression in Rett Syndrome. ( 30781346 )
2019
18
Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort. ( 30783265 )
2019
19
Treating Rett syndrome: from mouse models to human therapies. ( 30820643 )
2019
20
Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female. ( 30829465 )
2019
21
Regression in Rett syndrome: Developmental pathways to its onset. ( 30832924 )
2019
22
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing. ( 30842224 )
2019
23
Beyond Pathway Analysis: Identification of Active Subnetworks in Rett Syndrome. ( 30847002 )
2019
24
De novo mosaic MECP2 mutation in a female with Rett syndrome. ( 30847208 )
2019
25
Parents' perception of health care services for girls with Rett syndrome. ( 30870585 )
2019
26
Attention measures of patients with Rett Syndrome need to overcome the challenges in evaluating the oculomotor function using electronystagmography. ( 30876649 )
2019
27
How reconstructive surgery combined with physiotherapy for a painful nontraumatic patellar dislocation enabled a woman with Rett syndrome to become pain free and remain physically active: A case report. ( 30899490 )
2019
28
Astrocytic modulation of excitatory synaptic signaling in a mouse model of Rett syndrome. ( 29313799 )
2018
29
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated I+-tubulin defect which improves after iHDAC6 treatment in Rett syndrome. ( 29730163 )
2018
30
Using eye-tracking technology for communication in Rett syndrome: perceptions of impact. ( 29703090 )
2018
31
Intestinal Candida parapsilosis isolates from Rett syndrome subjects bear potential virulent traits and capacity to persist within the host. ( 29720131 )
2018
32
Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial. ( 29321033 )
2018
33
Rett syndrome: a seminal book on extensive multidisciplinary analyses for rare disease. ( 29802318 )
2018
34
An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A. ( 29366381 )
2018
35
The course of awake breathing disturbances across the lifespan in Rett syndrome. ( 29657083 )
2018
36
When Rett syndrome is due to genes other than <i>MECP2</i>. ( 29682453 )
2018
37
Skin injuries and joint contractures of the upper extremities in Rett syndrome. ( 29214702 )
2018
38
Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice. ( 29742424 )
2018
39
First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation. ( 29421650 )
2018
40
MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases. ( 29704307 )
2018
41
Cognitive function in Rett syndrome: Profoundly impaired or near normal? ( 29332766 )
2018
42
Identification of Correlative Shifts in Indices of Brain Cholesterol Metabolism in the C57BL6/Mecp2<sup>tm1.1Bird</sup> Mouse, a Model for Rett Syndrome. ( 29770459 )
2018
43
Early Vocal Development in Autism Spectrum Disorder, Rett Syndrome, and Fragile X Syndrome: Insights from Studies using Retrospective Video Analysis. ( 29774230 )
2018
44
A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation. ( 29341476 )
2018
45
Epilepsy in classic Rett syndrome: Course and characteristics in adult age. ( 29966812 )
2018
46
Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices. ( 29704311 )
2018
47
Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome: A Longitudinal Study of an Australian Population. ( 29941161 )
2018
48
Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls. ( 29428920 )
2018
49
Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes. ( 29777588 )
2018
50
Correction to: Dendrimer-mediated delivery of N-acetyl cysteine to microglia in a mouse model of Rett syndrome. ( 29329583 )
2018

Variations for Rett Syndrome

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

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

ClinVar genetic disease variations for Rett Syndrome:

6 (show top 50) (show all 1186)
# Gene Variation Type Significance SNP ID Assembly Location
1 MECP2 NM_001110792.1(MECP2): c.520A> G (p.Arg174Gly) single nucleotide variant Pathogenic rs727505391 GRCh37 Chromosome X, 153296795: 153296795
2 MECP2 NM_001110792.1(MECP2): c.520A> G (p.Arg174Gly) single nucleotide variant Pathogenic rs727505391 GRCh38 Chromosome X, 154031344: 154031344
3 MECP2 NM_004992.3(MECP2): c.-98-?_377+?del deletion Pathogenic
4 MECP2 NM_004992.3(MECP2): c.(?_-226)_26+?del deletion Pathogenic GRCh37 Chromosome X, 153357642: 153363188
5 MECP2 NC_000023.11: g.154015897_154030807del14911 deletion Pathogenic GRCh37 Chromosome X, 153281346: 153296256
6 MECP2 NC_000023.11: g.154015897_154030807del14911 deletion Pathogenic GRCh38 Chromosome X, 154015897: 154030807
7 MECP2 NC_000023.11: g.154016490_154067020del deletion Pathogenic GRCh37 Chromosome X, 153281940: 153332471
8 MECP2 NC_000023.11: g.154016490_154067020del deletion Pathogenic GRCh38 Chromosome X, 154016490: 154067020
9 MECP2 NM_004992.3(MECP2): c.(?_1336)_*(1_?)del deletion Pathogenic GRCh37 Chromosome X, 153295817: 153295943
10 MECP2 NM_004992.3(MECP2): c.(?_1336)_*(1_?)del deletion Pathogenic GRCh38 Chromosome X, 154030366: 154030492
11 MECP2 NM_004992.3(MECP2): c.(?_1169)_*(1_?)del deletion Pathogenic GRCh37 Chromosome X, 153295817: 153296110
12 MECP2 NM_004992.3(MECP2): c.(?_1169)_*(1_?)del deletion Pathogenic GRCh38 Chromosome X, 154030366: 154030659
13 MECP2 NM_004992.3(MECP2): c.(?_378)_*(1_?)del deletion Pathogenic GRCh37 Chromosome X, 153295817: 153296901
14 MECP2 NM_004992.3(MECP2): c.(?_378)_*(1_?)del deletion Pathogenic GRCh38 Chromosome X, 154030366: 154031450
15 MECP2 NM_004992.3(MECP2): c.(?_1044)_(1442_?)del (p.(?)) deletion Pathogenic GRCh37 Chromosome X, 153295837: 153296235
16 MECP2 NM_004992.3(MECP2): c.(?_1044)_(1442_?)del (p.(?)) deletion Pathogenic GRCh38 Chromosome X, 154030386: 154030784
17 MECP2 NM_004992.3(MECP2): c.(?_1169)_(1397_?)del (p.(?)) deletion Pathogenic GRCh37 Chromosome X, 153295882: 153296110
18 MECP2 NM_004992.3(MECP2): c.(?_1169)_(1397_?)del (p.(?)) deletion Pathogenic GRCh38 Chromosome X, 154030431: 154030659
19 MECP2 NM_004992.3(MECP2): c.(?_1017)_(1397_?)del (p.(?)) deletion Pathogenic GRCh37 Chromosome X, 153295882: 153296262
20 MECP2 NM_004992.3(MECP2): c.(?_1017)_(1397_?)del (p.(?)) deletion Pathogenic GRCh38 Chromosome X, 154030431: 154030811
21 MECP2 NM_004992.3(MECP2): c.1101_(1396_?)del (p.His(368_?)Alafs) deletion Pathogenic GRCh38 Chromosome X, 154030432: 154030727
22 MECP2 NM_004992.3(MECP2): c.1101_(1396_?)del (p.His(368_?)Alafs) deletion Pathogenic GRCh37 Chromosome X, 153295883: 153296178
23 MECP2 NM_004992.3(MECP2): c.(?_378)_(1337_?)del (p.(?)) deletion Pathogenic GRCh37 Chromosome X, 153295942: 153296901
24 MECP2 NM_004992.3(MECP2): c.(?_378)_(1337_?)del (p.(?)) deletion Pathogenic GRCh38 Chromosome X, 154030491: 154031450
25 MECP2 NM_004992.3(MECP2): c.(?_378)_(1185_?)del (p.(?)) deletion Pathogenic GRCh37 Chromosome X, 153296094: 153296901
26 MECP2 NM_004992.3(MECP2): c.(?_378)_(1185_?)del (p.(?)) deletion Pathogenic GRCh38 Chromosome X, 154030643: 154031450
27 MECP2 NM_004992.3(MECP2): c.(?_378)_(1170_?)del (p.(?)) deletion Pathogenic GRCh38 Chromosome X, 154030658: 154031450
28 MECP2 NM_004992.3(MECP2): c.(?_378)_(1170_?)del (p.(?)) deletion Pathogenic GRCh37 Chromosome X, 153296109: 153296901
29 MECP2 NM_004992.3(MECP2): c.(?_631)_(657_?)dup (p.(?)) duplication Uncertain significance GRCh38 Chromosome X, 154031171: 154031197
30 MECP2 NM_004992.3(MECP2): c.(?_631)_(657_?)dup (p.(?)) duplication Uncertain significance GRCh37 Chromosome X, 153296622: 153296648
31 MECP2 NM_004992.3(MECP2): c.(?_27)_(367_?)del (p.(?)) deletion Pathogenic GRCh37 Chromosome X, 153297668: 153298008
32 MECP2 NM_004992.3(MECP2): c.(?_27)_(367_?)del (p.(?)) deletion Pathogenic GRCh38 Chromosome X, 154032217: 154032557
33 MECP2 NM_004992.3(MECP2): c.(?_248)_(320_?)del (p.(?)) deletion Pathogenic GRCh37 Chromosome X, 153297715: 153297787
34 MECP2 NM_004992.3(MECP2): c.(?_248)_(320_?)del (p.(?)) deletion Pathogenic GRCh38 Chromosome X, 154032264: 154032336
35 MECP2 NM_004992.3(MECP2): c.(?_1)_26+?dup duplication Uncertain significance GRCh37 Chromosome X, 153357642: 153357667
36 MECP2 NM_004992.3(MECP2): c.(?_1)_26+?dup duplication Uncertain significance GRCh38 Chromosome X, 154092184: 154092209
37 MECP2 NM_001110792.1(MECP2): c.(?_1)_(62_?)del (p.(?)) deletion Pathogenic GRCh37 Chromosome X, 153363061: 153363122
38 MECP2 NM_001110792.1(MECP2): c.(?_1)_(62_?)del (p.(?)) deletion Pathogenic GRCh38 Chromosome X, 154097604: 154097665
39 MECP2 NM_004992.3(MECP2): c.(?_-226)_-99+?del deletion Uncertain significance GRCh37 Chromosome X, 153363061: 153363188
40 MECP2 NM_004992.3(MECP2): c.(?_-226)_-99+?del deletion Uncertain significance GRCh38 Chromosome X, 154097604: 154097731
41 CDKL5 NM_003159.2(CDKL5): c.-253_64+?del deletion Pathogenic GRCh37 Chromosome X, 18443725: 18525280
42 CDKL5 NM_003159.2(CDKL5): c.-253_64+?del deletion Pathogenic GRCh38 Chromosome X, 18425605: 18507160
43 CDKL5 NM_003159.2(CDKL5): c.-253_99+?del deletion Pathogenic GRCh37 Chromosome X, 18443725: 18528974
44 CDKL5 NM_003159.2(CDKL5): c.-253_99+?del deletion Pathogenic GRCh38 Chromosome X, 18425605: 18510854
45 CDKL5 NM_003159.2(CDKL5): c.(?_-253)_-162-27968del deletion Pathogenic GRCh37 Chromosome X, 18443725: 18497087
46 CDKL5 NM_003159.2(CDKL5): c.(?_-253)_-162-27968del deletion Pathogenic GRCh38 Chromosome X, 18425605: 18478967
47 CDKL5 NM_003159.2(CDKL5): c.-162-?_99+?del deletion Pathogenic
48 CDKL5 NM_003159.2(CDKL5): c.404-?_554+?del deletion Pathogenic
49 MECP2 NM_004992.3(MECP2): c.27-12521_*5072del deletion Pathogenic GRCh37 Chromosome X, 153290746: 153310529
50 MECP2 NM_004992.3(MECP2): c.27-12521_*5072del deletion Pathogenic GRCh38 Chromosome X, 154025295: 154045078

Copy number variations for Rett Syndrome from CNVD:

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

Expression for Rett Syndrome

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

Pathways for Rett Syndrome

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

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

GO Terms for Rett Syndrome

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

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

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

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

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

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

Sources for Rett Syndrome

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