RTT
MCID: RTT002
MIFTS: 77

Rett Syndrome (RTT) malady

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

Aliases & Classifications for Rett Syndrome

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 38MedlinePlus, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Rett Syndrome:

Name: Rett Syndrome 52 11 71 48 24 25 49 54 70 12 50 38 39 13 68
Atypical Rett Syndrome 48 54 27
Rett Syndrome Zappella Variant 70 27
Rett Syndrome, Atypical 52 68
Rett Syndrome Variant 48 54
Rett's Syndrome 25 27
Rett's Disorder 11 25
Rett Disorder 25 70
Rts 25 70
 
Rtt 25 70
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome 25
Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use 48
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use 70
Rett Syndrome, Preserved Speech Variant 52
Rett Syndrome Preserved Speech Variant 70
Cerebroatrophic Hyperammonemia 11
Rett Like Syndrome 48
Atypical Rtt 54

Characteristics:

Orphanet epidemiological data:

54
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

HPO:

64
rett syndrome:
Inheritance: x-linked dominant inheritance

Classifications:



External Ids:

OMIM52 312750
Disease Ontology11 DOID:1206
ICD1030 F84.2
MeSH39 D015518
NCIt45 C75488
SNOMED-CT62 192583003, 68618008
MESH via Orphanet40 D015518
UMLS via Orphanet69 C0035372
ICD10 via Orphanet31 F84.2

Summaries for Rett Syndrome

About this section
NIH Rare Diseases:48 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. last updated: 2/12/2013

MalaCards based summary: Rett Syndrome, also known as atypical rett syndrome, is related to encephalopathy, neonatal severe and autism spectrum disorder, and has symptoms including back pain, back pain and cachexia. An important gene associated with Rett Syndrome is MECP2 (Methyl-CpG Binding Protein 2), and among its related pathways are Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) and Biogenic Amine Synthesis. Affiliated tissues include brain, eye and testes, and related mouse phenotypes are taste/olfaction and hearing/vestibular/ear.

UniProtKB/Swiss-Prot:70 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.

MedlinePlus:38 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:49 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.

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 have a small head size (microcephaly). Other signs and symptoms that can develop include breathing abnormalities, seizures, an abnormal side-to-side curvature of the spine (scoliosis), and sleep disturbances.

OMIM:52 Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in females. It is characterized by... (312750) more...

Disease Ontology:11 A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.

Wikipedia:71 Rett syndrome (RTT), originally termed cerebroatrophic hyperammonemia, is a rare genetic postnatal... more...

Related Diseases for Rett Syndrome

About this section

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 117)
idRelated DiseaseScoreTop Affiliating Genes
1encephalopathy, neonatal severe30.4ANKRD31, ATRX, BDNF, CDKL5, CHAT, DLX5
2autism spectrum disorder30.1ATRX, BDNF, MECP2
3rett syndrome, congenital variant12.2
4classic rett syndrome11.9
5rothmund-thomson syndrome11.7
6epileptic encephalopathy, early infantile, 211.7
7atypical teratoid rhabdoid tumor11.7
8rubinstein-taybi syndrome11.6
9pervasive developmental disorder11.1
10rhabdoid cancer11.1
11cdkl5-related disorder11.0
12coffin-lowry syndrome10.8
13mental retardation, x-linked, syndromic 1310.8
14asperger syndrome10.8
15rhabdoid tumors, somatic10.8
16neuronitis10.4
17coasy-associated neurodegeneration10.3FOXG1, MBD4, MECP2, UBE3A
18leukemia10.2
19cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk10.2BDNF, TH
20panhypopituitarism, x-linked10.2CDKL5, FOXG1
21breast cancer10.2
22pulmonary hypertension10.2CDKL5, FOXG1, MECP2, TH
23spastic paraplegia 6, autosomal dominant10.2CDKL5, MBD4, MECP2, UBE3A
24epilepsy10.2
25kashin-beck disease10.2BDNF, CHAT, TH
26sexual disorder10.2BDNF, CDKL5, FOXG1, MECP2, UBE3A
27alpha thalassemia-x-linked intellectual disability syndrome10.1DLX5, DLX6, MECP2, TH
28scoliosis10.1
29prostatitis10.1
30myeloid leukemia10.0
31melanoma10.0
32colorectal cancer10.0
33prostate cancer10.0
34sarcoma10.0
35thyroiditis10.0
36hepatitis10.0
37gastric cancer9.9
38peritonitis9.9
39intellectual disability9.9
40encephalopathy9.9
41lung cancer9.9
42lymphoma9.9
43squamous cell carcinoma9.9
44adenocarcinoma9.9
45influenza9.9
46endotheliitis9.9
47autonomic dysfunction9.9
48hypoxia9.9
49newcastle disease9.8
50neuroblastoma9.8

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



Diseases related to rett syndrome

Symptoms & Phenotypes for Rett Syndrome

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Symptoms by clinical synopsis from OMIM:

312750

Clinical features from OMIM:

312750

Human phenotypes related to Rett Syndrome:

 54 64 (show all 71)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the teeth64 54 Frequent (79-30%) HP:0000164
2 microcephaly64 54 Very frequent (99-80%) HP:0000252
3 macrotia64 54 Occasional (29-5%) HP:0000400
4 behavioral abnormality54 Very frequent (99-80%)
5 depression64 54 Frequent (79-30%) HP:0000716
6 autism64 54 Frequent (79-30%) HP:0000717
7 stereotypy64 54 Very frequent (99-80%) HP:0000733
8 abnormality of the skull54 Very frequent (99-80%)
9 acrocyanosis64 54 Occasional (29-5%) HP:0001063
10 abnormality of the metacarpal bones64 54 Frequent (79-30%) HP:0001163
11 seizures64 54 Very frequent (99-80%) HP:0001250
12 ataxia64 54 Frequent (79-30%) HP:0001251
13 spasticity64 54 Frequent (79-30%) HP:0001257
14 muscle weakness64 54 Occasional (29-5%) HP:0001324
15 dystonia64 54 Frequent (79-30%) HP:0001332
16 joint stiffness64 54 Occasional (29-5%) HP:0001387
17 failure to thrive64 54 Occasional (29-5%) HP:0001508
18 narrow foot64 54 Occasional (29-5%) HP:0001786
19 respiratory insufficiency64 54 Frequent (79-30%) HP:0002093
20 cerebral cortical atrophy64 54 Frequent (79-30%) HP:0002120
21 apraxia64 54 Very frequent (99-80%) HP:0002186
22 hepatomegaly64 54 Occasional (29-5%) HP:0002240
23 arnold-chiari malformation64 54 Occasional (29-5%) HP:0002308
24 eeg abnormality64 54 Very frequent (99-80%) HP:0002353
25 dysphasia64 54 Very frequent (99-80%) HP:0002357
26 developmental regression64 54 Occasional (29-5%) HP:0002376
27 tetraplegia64 54 Occasional (29-5%) HP:0002445
28 scoliosis64 54 Frequent (79-30%) HP:0002650
29 arthrogryposis multiplex congenita64 54 Occasional (29-5%) HP:0002804
30 decreased muscle mass64 54 Occasional (29-5%) HP:0003199
31 clinodactyly of the 5th finger64 54 Occasional (29-5%) HP:0004209
32 short stature64 54 Frequent (79-30%) HP:0004322
33 hemiplegia/hemiparesis64 54 Occasional (29-5%) HP:0004374
34 abnormality of the antihelix64 54 Occasional (29-5%) HP:0009738
35 intellectual disability, severe64 54 Very frequent (99-80%) HP:0010864
36 arrhythmia64 54 Occasional (29-5%) HP:0011675
37 thin fingernail64 54 Occasional (29-5%) HP:0012742
38 abnormality of movement64 54 Very frequent (99-80%) HP:0100022
39 self-injurious behavior64 54 Occasional (29-5%) HP:0100716
40 wide mouth64 54 Very frequent (99-80%) HP:0000154
41 long philtrum64 54 Very frequent (99-80%) HP:0000343
42 hearing impairment64 54 Very frequent (99-80%) HP:0000365
43 underdeveloped nasal alae64 54 Very frequent (99-80%) HP:0000430
44 wide nose64 54 Very frequent (99-80%) HP:0000445
45 nephrolithiasis64 54 Very frequent (99-80%) HP:0000787
46 abnormality of the fingernails64 54 Very frequent (99-80%) HP:0001231
47 intellectual disability64 54 Very frequent (99-80%) HP:0001249
48 gastroesophageal reflux64 54 Very frequent (99-80%) HP:0002020
49 ventriculomegaly64 54 Very frequent (99-80%) HP:0002119
50 fine hair64 54 Very frequent (99-80%) HP:0002213
51 aplasia/hypoplasia of the cerebellum64 54 Very frequent (99-80%) HP:0007360
52 abnormality of the antitragus64 54 Very frequent (99-80%) HP:0009896
53 thick vermilion border64 54 Very frequent (99-80%) HP:0012471
54 camptodactyly of finger64 54 Very frequent (99-80%) HP:0100490
55 dementia64 HP:0000726
56 autistic behavior64 HP:0000729
57 short foot64 HP:0001773
58 constipation64 HP:0002019
59 gait ataxia64 HP:0002066
60 truncal ataxia64 HP:0002078
61 intellectual disability, profound64 HP:0002187
62 motor deterioration64 HP:0002333
63 kyphosis64 HP:0002808
64 skeletal muscle atrophy64 HP:0003202
65 bruxism64 HP:0003763
66 cachexia64 HP:0004326
67 intermittent hyperventilation64 HP:0004879
68 abnormal t-wave64 HP:0005135
69 prolonged qtc interval64 HP:0005184
70 postnatal microcephaly64 HP:0005484
71 gait apraxia64 HP:0010521

UMLS symptoms related to Rett Syndrome:


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

MGI Mouse Phenotypes related to Rett Syndrome according to GeneCards Suite gene sharing:

41 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539410.5BDNF, CDKL5, DLX5, FOXG1, SYN1
2MP:000537710.3BDNF, DLX5, DLX6, FOXG1, GPM6B, MECP2
3MP:001077110.3BDNF, DLX5, DLX6, FOXG1, HDAC1, MECP2
4MP:000538810.1BDNF, CHAT, DLX5, DLX6, FOXG1, HDAC1
5MP:000538510.0ATRX, CHAT, DLX5, FOXG1, FXYD1, HDAC1
6MP:00053789.8ATRX, BDNF, CHAT, DLX5, DLX6, FOXG1
7MP:00053849.7ATRX, BDNF, DLX5, FOXG1, GPM6B, HDAC1
8MP:00053869.4ATRX, BDNF, CDKL5, CHAT, DLX5, FOXG1
9MP:00036319.2ATRX, BDNF, CDKL5, CHAT, DLX5, DLX6
10MP:00107689.1ATRX, BDNF, CHAT, DLX5, DLX6, FOXG1
11MP:00053918.9ATRX, BDNF, CDKL5, CHAT, FOXG1, GPM6B

Drugs & Therapeutics for Rett Syndrome

About this section

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

(show top 50)    (show all 70)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DextromethorphanapprovedPhase 3, Phase 2133125-71-35360696, 5362449
Synonyms:
( )-3-Methoxy-N-methylmorphinon
( )-cis-1,3,4,9,10,10a-Hexahydro-6-methoxy-11-methyl-2H-10,4alpha-iminoethanophenanthren
(+)-3-Methoxy-17-methylmorphinan
(+)-dextromethorphan
(-)-3-Methoxy-N-methylmorphinan
(9alpha,13alpha,14alpha)-17-methyl-3-(methyloxy)morphinan
125-69-9 (hydrobromide)
125-70-2
125-71-3
18046-32-7
18609-21-7 (hydrochloride)
3-Methoxy-17-methyl-9alpha,13alpha,14alpha-morphinan
3-Methoxy-17-methylmorphinan
32062-10-5
4-21-00-01367 (Beilstein Handbook Reference)
6700-34-1 (hydrobromide, mono-hydrate)
9alpha,13alpha,14alpha-Morphinan, 3-methoxy-17-methyl- (8CI)
AC-13098
AC1L1EYT
Albutussin
Antussan
BA 2666
BPBio1_000503
BRD-K33211335-337-03-7
BRN 0088549
BSPBio_000457
Balminil DM
Balminil DM Children
Bayer Select Flu Relief
Bayer Select Head & Chest Cold
Bayer Select Night Time Cold
Benylin Adult Formula Cough Suppressant
Benylin DM
Benylin DM (TN)
Benylin DM 12 Hour
Benylin DM for Children
Benylin DM for Children 12 Hour
Benylin Pediatric Cough Suppressant
C06947
CHEBI:128891
CHEBI:4470
CHEBI:580686
CHEMBL22207
CHEMBL52440
CID3008
CID5360696
CID5362449
Calmylin #1
Canfodion
Cerose-DM
Chloraseptic DM
Contac Day & Night Cold/Flu Day Caplets
Contac Jr. Non-drowsy Formula
Contac Nighttime Cold Medicine
Contac Severe Cold Formula Maximum Strength
Contac Severe Cold Formula Non-Drowsy
Coricidin Syrup
Cosylan
Cough-X
Creo-Terpin
D-Methorphan
D-Methorphan Hydrobromide
D-methorphan
D03742
DB00514
DEA No. 9210
DM
DXM
Delsym
Delsym Cough Formula
Delta-Methorphan
Demorphan
Demorphan Hydrobromide
Demorphan hydrobromide
Demorphine
Destrometerfano
Destrometerfano [DCIT]
Destrometerfano [Dcit]
Dex
Dextromethorfan
Dextromethorfan [Czech]
Dextromethorphan
Dextromethorphan (USP)
Dextromethorphan Bromhydrate
Dextromethorphan Bromide
Dextromethorphan [USP:INN:BAN]
Dextromethorphan hydrobromide OROS Tablets
Dextromethorphan hydrobromide [BAN:JAN]
Dextromethorphan hydrobromide monohydrate
Dextromethorphane
Dextromethorphane [INN-French]
Dextromethorphanum
Dextromethorphanum [INN-Latin]
Dextrometorfano
Dextrometorfano [INN-Spanish]
Dextrometorphan
Dextromorphan
Dextrométhorphane
Dexyromethorphan
Diabe-Tuss DM Syrup
 
Dimacol
Dimetapp DM
Dormetan
Dormethan
Drixoral Cough
Drixoral Cough & Congestion
Drixoral Cough & Sore Throat
EINECS 204-751-7
EINECS 204-752-2
Endotussin-NN
Endotussin-NN Pediatric
HMS2090C08
HSDB 3056
Hihustan M.
Hold
Hold DM
Koffex DM
L-Methorphan
LS-91837
LS-91838
Levomethorphan
Levomethorphan [BAN:DCF:INN]
Levomethorphan [Ban:Dcf:Inn]
Levomethorphan [INN:BAN:DCF]
Levomethorphane
Levomethorphane [INN-French]
Levomethorphanum
Levomethorphanum [INN-Latin]
Levometorfano
Levometorfano [INN-Spanish]
Lopac-D-2531
Lopac0_000337
MLS000758303
Medicon
Methorate
Methorate Hydrobromide
Methorphan
Metrorat
MolPort-003-940-943
MolPort-004-285-957
Morphinan, 3-methoxy-17-methyl-, (9-alpha,13-alpha,14-alpha)- (9CI)
NCGC00015333-01
NCGC00015333-02
NCGC00015333-04
NCGC00162126-01
Naldecon-DX
Novahistex DM
Novahistine DM
Ornex Severe Cold Formula
Orthoxicol
PediaCare 1
PediaCare Cough-Cold Formula
Pertussin CS Children's Strength
Pertussin DM Extra Strength
Prestwick0_000359
Prestwick1_000359
Prestwick2_000359
Prestwick3_000359
Prestwick_686
RACEMETHORPHAN
Robitussin CF
Robitussin Cold & Cough
Robitussin Cough Calmers
Robitussin DM
Robitussin Maximum Strength Cough
Robitussin Maximum Strength Cough Suppressant
Robitussin Pediatric
Robitussin Pediatric Cough
Robitussin Pediatric Cough & Cold
Robitussin Pediatric Cough Suppressant
Robitussin Pediatric Night Relief
Romilar
Rondec dm
Ru-Tuss Expectorant
SPBio_002378
St. Joseph Cough Syrup
Sucrets 4 Hour Cough Suppressant
Sudafed Cough Syrup
Triaminic
Triaminic DM Long Lasting for Children
Trind-DM
Trocal
Tusilan
Tussade
Tussar DM
Tussi-Organidin
Tussi-Organidin DM NR
Tussi-Organidin DM-S NR
Tylenol Cold No Drowsiness
Tylenol Cold and Flu Multi-Symptom
Tylenol Cold and Flu No Drowsiness
Tylenol Cough + Decongestant Liquid
Tylenol Cough Liquid
Tylenol Flu No Drowsiness Gelcaps
UNII-7355X3ROTS
Vicks 44 Cough Relief
Viro-Med
d-Methorphan
delta-Methorphan
dextromethorphan
l-Methorphan
2
DonepezilapprovedPhase 3286120014-06-43152
Synonyms:
( inverted exclamation markA)-E 2020
1-Benzyl-4-[(5,6-dimethoxy-1-oxoindan-2-yl)methyl]piperidine
120014-06-4
2-[(1-benzylpiperidin-4-yl)methyl]-5,6-dimethoxy-2,3-dihydroinden-1-one
2-[(1-benzylpiperidin-4-yl)methyl]-5,6-dimethoxyindan-1-one
AB1004836
AC-6969
AC1L1FAE
AKOS000277311
Aricept
Aricept ODT
C24H29NO3
CHEBI:53289
CHEMBL502
CID3152
D07869
DB00843
Domepezil
Donaz
Donaz (TN)
 
Donepezil
Donepezil (INN)
Donepezil [INN:BAN]
Donepezil hydrochloride
Donepezilo
Donepezilum
Eranz
I06-0343
KBio2_002144
KBio2_004712
KBio2_007280
KBioSS_002144
LS-81819
MolPort-000-881-588
MolPort-003-847-014
NCGC00167537-01
Oprea1_188452
Spectrum5_001662
Spectrum_001664
TL8000531
UNII-8SSC91326P
3
Guaifenesinapproved, vet_approvedPhase 3, Phase 264193-14-13516
Synonyms:
3-(2-Methoxyphenoxy)-1,2-propanediol
3-(O-Methoxyphenoxy)-1,2-propanediol
3-(O-Methoxyphenoxy)-propanediol-1,2
3-O-Methoxyphenoxypropane 1:2-diol
Actifed C
Aeronesin
Amonidren
Amonidrin
Aresol
Benylin-E
Bronchol
Glycerin ether
Glycerin guaiacolate
Glycero-guaiacol ether
Glycerol a-(2-methoxyphenyl) ether
Glycerol a-(O-methoxyphenyl)ether
Glycerol a-guaiacyl ether
Glycerol a-guiacyl ether
Glycerol a-monoguaiacol ether
Glycerol guaiacolate
Glycerol mono(2-methoxyphenyl) ether
Glycerol-a-guajakolether
Glycerol-alpha-guajakolether
Glyceryl guaiacol
Glyceryl guaiacol ether
Glyceryl guaiacolate
Glyceryl guaiacolate ether
Glyceryl guaiacyl ether
Glyceryl guaicolate
Glyceryl guiacolate
 
Glycerylguaiacol
Guaiacol glycerol ether
Guaiacol glyceryl ether
Guaiacolglicerinetere
Guaiacuran
Guaiacurane
Guaiacyl glyceryl ether
Guaiamar
Guaianesin
Guaicol glycerine ether
Guaicol glyceryl ether
Guaifenesin
Guaifenesine
Guaiphenesin
Guaiphenesine
Guaiphesin
Hustosil
Methoxypropanediol
Methphenoxydiol
Metossipropandiolo
O-Methoxyphenyl glyceryl ether
Organidin NR
Pneumomist
Propanosedyl
Reduton
Robitussin
a-Glyceryl guaiacol ether
a-Glyceryl guaiacolate ether
alpha-Glyceryl guaiacol ether
alpha-Glyceryl guaiacolate ether
guaiphenesin
p-Cresyl acetate
4
DopamineapprovedPhase 3383651-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
5
Risperidoneapproved, investigationalPhase 3492106266-06-25073
Synonyms:
106266-06-2
3-(2-(4-(6-Fluoro-1,2-benzisoxazol-3-yl)piperidino)ethyl)-6,7,8,9-tetrahydro-2-methyl-4H-pyrido(1,2-a)pyrimidin-4-one
3-(2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl)-2-methyl-6,7,8,9-tetrahydro-pyrido[
3-(2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl)-2-methyl-6,7,8,9-tetrahydropyrido[1,
3-[2-[-4-(6-fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-Fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido [1,2-a] pyrimidin-4-one
3-[2-[4-(6-Fluoro-1,2-benzisoxazol-3-yl)piperi-dino]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]-pyrimidin-4-one
3-[2-[4-(6-fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-fluoro-1,2-benzoxazol-3-yl)piperidin-1-yl]ethyl]-2-methyl-6,7,8,9-tetrahydropyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl]-2-methyl-6,7,8,9-tetrahydropyrido[1,
3-{2-[4-(6-Fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl}-2-methyl-6,7,8,9-tetrahydropyrido[1,2-a]pyrimidin-4-one
3-{2-[4-(6-fluoro-1,2-benzisoxazol-3-yl)piperidin-1-yl]ethyl}-2-methyl-6,7,8,9-tetrahydro-4H-pyrido[1,2-a]pyrimidin-4-one
3-{2-[4-(6-fluoro-1,2-benzoxazol-3-yl)piperidin-1-yl]ethyl}-2-methyl-6,7,8,9-tetrahydro-4H-pyrido[1,2-a]pyrimidin-4-one
AB00514010
AC-1306
AC1L1JJU
BIDD:GT0262
BRD-K53857191-001-04-5
BRN 4891881
Belivon
Bio-0092
Buspirone
C23H27FN4O2
CAS-106266-06-2
CHEBI:8871
CHEMBL85
CID5073
CPD000466323
Consta, Risperdal
D00426
D018967
DB00734
EU-0101074
HMS1571M19
HMS2051H07
HMS2089C22
HSDB 7580
I01-1156
Jsp000573
KS-1106
L000510
LS-134196
Lopac-R-118
MLS000759429
MLS001165758
MLS001424081
MolPort-002-885-858
 
NCGC00015883-01
NCGC00015883-02
NCGC00015883-03
NCGC00094352-01
NCGC00094352-02
NCGC00094352-03
NCGC00179257-01
Prestwick0_001029
Prestwick1_001029
R 62 766
R 64 766, Risperdal, Risperidone
R 64,766
R 64766
R-118
R-64,766
R-64-766
R-64766
R64,766
R64766
Rispen
Risperdal
Risperdal (TN)
Risperdal Consta
Risperdal M-Tab
Risperidal
Risperidal M-Tab
Risperidona
Risperidona [Spanish]
Risperidone
Risperidone (JAN/USAN/INN)
Risperidone (RIS)
Risperidone [USAN:BAN:INN]
Risperidone, placebo
Risperidonum
Risperidonum [Latin]
Risperin
Rispolept
Rispolin
S1615_Selleck
SAM001246595
SMR000466323
SPBio_003078
STK646402
Sequinan
Spiron
TL8000230
UNII-L6UH7ZF8HC
risperdone
risperidone
6Neurotransmitter AgentsPhase 3, Phase 2, Phase 118340
7Respiratory System AgentsPhase 3, Phase 24997
8Nootropic AgentsPhase 3716
9Antitussive AgentsPhase 3, Phase 2542
10Chlorpheniramine, phenylpropanolamine drug combinationPhase 3, Phase 2641
11Cholinesterase InhibitorsPhase 3592
12Excitatory Amino Acid AntagonistsPhase 3, Phase 2, Phase 11347
13Cholinergic AgentsPhase 33992
14Excitatory Amino AcidsPhase 3, Phase 2, Phase 11362
15Serotonin AgentsPhase 33156
16Tranquilizing AgentsPhase 34265
17Psychotropic DrugsPhase 3, Phase 26430
18Serotonin AntagonistsPhase 31409
19
SerotoninPhase 3362750-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
20Dopamine AntagonistsPhase 31093
21Central Nervous System DepressantsPhase 3, Phase 113403
22Antipsychotic AgentsPhase 32401
23Dopamine AgentsPhase 33836
24Glutamic AcidNutraceuticalPhase 3, Phase 2228
25
Glatiramer Acetateapproved, investigationalPhase 2, Phase 193147245-92-93081884
Synonyms:
(2S)-2,6-diaminohexanoic acid
(2S)-2-amino-3-(4-hydroxyphenyl)propanoic acid
(2S)-2-aminopentanedioic acid
(2S)-2-aminopropanoic acid
147245-92-9
AC1MIXQC
Aventis brand of copolymer 1
C089995
CID3081884
COP-1
Copaxone
Copolymer 1
 
Copolymer-1
Copoylmer 1
Glatiramer acetate
Glatiramer acetate [USAN]
L-Glutamic acid peptide with L-alanine, L-lysine and L-tyrosine, acetate (salt)
L-Glutamic acid polymer with L-alanine, L-lysine and L-tyrosine, acetate (salt)
LS-186971
LS-71889
TV 5010
TV-5010
TV5010
Teva brand of copolymer 1
UNII-5M691HL4BO
acetic acid
26
Lovastatinapproved, investigationalPhase 26375330-75-553232
Synonyms:
(1S,3R,7S,8S,8AR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-(2R,4R)-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl (S)-2-methyl-butyrate
1cqp
2beta,6alpha-Dimethyl-8alpha-(2-methyl-1-oxobutoxy)-mevinic acid lactone
6 Methylcompactin
6 alpha-Methylcompactin
6-Methylcompactin
6-alpha-Methylcompactin
6-alpha-methylcompactin
6alpha-Methylcompactin
6α-methylcompactin
71949-96-7
74133-25-8
75330-75-5
81739-26-6
AC-13961
AC1L1EI6
AC1Q2C7T
ACon0_000534
ACon1_000390
ARONIS24208
Altocor
Altoprev
Artein
BB_NC-1457
BIDD:GT0749
BIDD:PXR0113
BPBio1_000519
BRD-K09416995-001-06-8
BRN 3631989
BSPBio_000471
BSPBio_001265
BSPBio_003346
Belvas
C07074
C24H36O5
CCRIS 8092
CHEBI:40303
CHEMBL503
CID53232
CPD-5561
CPD000673570
Cholestra
Closterol
Colevix
D00359
D008148
DB00227
DivK1c_001032
HMS1569H13
HMS1792O07
HMS1923O13
HMS1990O07
HMS2089M06
HMS2093O03
HMS503O05
HSDB 6534
Hipolip
Hipovastin
I06-1876
IDI1_001032
KBio1_001032
KBio3_002848
L-154803
L0214
LOVASTATIN
LS-46359
Lestatin
Lipdip
Lipivas
Lipofren
Liposcler
 
Lovalip
Lovalord
Lovastatin & Primycin
Lovastatin (USP/INN)
Lovastatin [USAN:BAN:INN]
Lovastatin, (1 alpha(S*))-Isomer
Lovastatin, 1 alpha-Isomer (without R*/S* notation)
Lovastatina
Lovastatina [Spanish]
Lovastatine
Lovastatine [French]
Lovastatinum
Lovastatinum [Latin]
Lovasterol
Lovastin
Lozutin
M2147_SIGMA
MEGxm0_000398
MK 803
MK-803
MK803
ML-530B
ML-530b
MLS000069585
MLS001055358
MSD 803
Mevacor
Mevacor (TN)
Mevinacor
Mevinolin
Mevinolin from Aspergillus sp.
Mevlor
MolPort-001-739-990
Monacolin K
Monacolin-K
Monakolin K
NCGC00023509-03
NCGC00023509-04
NCGC00023509-05
NCGC00023509-06
NCGC00023509-07
NCGC00023509-08
NINDS_001032
Nergadan
Paschol
Prestwick0_000516
Prestwick1_000516
Prestwick2_000516
Prestwick3_000516
Prestwick_819
Rextat
Rodatin
Rovacor
SAM002589963
SMR000058779
SMR000673570
SPBio_002392
SPECTRUM1503977
STK801953
Sivlor
Spectrum3_001873
Spectrum5_001294
Taucor
Tecnolip
Teroltrat
UNII-9LHU78OQFD
ZINC03812841
lovastatin
lovastatin lactone
nchembio742-comp5
nchembio790-comp14
nchembio869-comp12
27
ZincapprovedPhase 222967440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
28
DesipramineapprovedPhase 23950-47-52995
Synonyms:
(3-(10H,11H-Dibenzo[b,f]azepin-5-yl)propyl)methylamine
10, 11-Dihydro-N-methyl-5H-dibez[b,f]azepine-5-propanamine
10,11-Dihydro-5-(3-methylaminopropyl)-5H-dibenz(b,f)azepine
3-(10,11-DIHYDRO-5H-DIBENZO[B,F]AZEPIN-5-YL)-N-METHYLPROPAN-1-AMINE
3-(10,11-DIHYDRO-5H-dibenzo[b,F]azepin-5-yl)-N-methylpropan-1-amine
3-(5,6-dihydrobenzo[b][1]benzazepin-11-yl)-N-methylpropan-1-amine
5-(gamma-Methylaminopropyl)iminodibenzyl
5-(γ-methylaminopropyl)iminodibenzyl
50-47-5
58-28-6 (hydrochloride)
AB00053450
AC-15977
AC1L1EXQ
AKOS001681456
BPBio1_000447
BRN 1432747
BSPBio_000405
BSPBio_002137
C06943
CAS-58-28-6
CCRIS 7091
CHEBI:47781
CHEMBL72
CID2995
D07791
DB01151
DB07682
DMI
DMI (pharmaceutical)
DMI 50475
Demethylimipramine
Desimipramine
Desimpramine
Desipramin
Desipramina
Desipramina [INN-Spanish]
Desipramine
Desipramine (D4)
Desipramine (INN)
Desipramine Hcl
Desipramine [INN:BAN]
Desipraminum
Desipraminum [INN-Latin]
Desmethylimipramine
Dezipramine
Dimethylimipramine
DivK1c_000190
Déméthylimipramine
 
EINECS 200-040-0
HSDB 3052
IDI1_000190
KBio1_000190
KBio2_000921
KBio2_003489
KBio2_006057
KBio3_001357
KBioGR_000928
KBioSS_000921
L001089
LS-60421
Lopac-D-3900
Lopac0_000358
Methylaminopropyliminodibenzyl
MolPort-002-051-955
Monodemethylimipramine
N-(3-Methylaminopropyl)iminobibenzyl
N-(3-methylaminopropyl)iminobibenzyl
NCGC00015340-01
NCGC00015340-02
NCGC00015340-03
NCGC00015340-10
NCGC00024375-04
NINDS_000190
Norimipramine
Norpramin
Norpramine
Pentofran
Pertofran
Pertrofane
Prestwick0_000343
Prestwick1_000343
Prestwick2_000343
Prestwick3_000343
SPBio_000042
SPBio_002326
STK735144
STOCK2S-34822
Sertofran
Spectrum2_000091
Spectrum3_000379
Spectrum4_000314
Spectrum5_000833
Spectrum_000441
UNII-TG537D343B
ZERO/006017
desipramine
desipraminum
29
BenzocaineapprovedPhase 220161994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
30tannic acidapproved, NutraceuticalPhase 22016
31Adjuvants, ImmunologicPhase 2, Phase 12554
32Antirheumatic AgentsPhase 2, Phase 110956
33Immunosuppressive AgentsPhase 2, Phase 113086
34AntimetabolitesPhase 212054
35Anticholesteremic AgentsPhase 22025
36Neurotransmitter Uptake InhibitorsPhase 23521
37DihydromevinolinPhase 263
38L 647318Phase 263
39Lipid Regulating AgentsPhase 22766
40Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 21998
41Hypolipidemic AgentsPhase 22785
42MitogensPhase 21617
43Hypoglycemic AgentsPhase 25896
44Trace ElementsPhase 26001
45MicronutrientsPhase 26001
46Antidepressive Agents, TricyclicPhase 2304
47insulinPhase 24646
48UbiquinonePhase 2145
49Insulin, Globin ZincPhase 24645
50Antidepressive AgentsPhase 22736

Interventional clinical trials:

(show all 41)
idNameStatusNCT IDPhase
1Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett SyndromeUnknown statusNCT00069550Phase 3
2A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD)CompletedNCT00261508Phase 3
3Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory SymptomsRecruitingNCT02790034Phase 2, Phase 3
4Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)Unknown statusNCT02153723Phase 2
5Phase 2 Study of EPI-743 for Treatment of Rett SyndromeCompletedNCT01822249Phase 2
6Treatment of Rett Syndrome With Recombinant Human IGF-1CompletedNCT01777542Phase 2
7Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett SyndromeCompletedNCT00990691Phase 2
8Pharmacological Treatment of Rett Syndrome With StatinsCompletedNCT02563860Phase 2
9Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection)CompletedNCT01253317Phase 1, Phase 2
10A Safety Study of NNZ-2566 in Patients With Rett SyndromeCompletedNCT01703533Phase 2
11A Safety Study of NNZ-2566 in Pediatric Rett SyndromeCompletedNCT02715115Phase 2
12Placebo Controlled Trial of Dextromethorphan in Rett SyndromeCompletedNCT01520363Phase 2
13Treatment of Mitochondrial Dysfunction in Rett Syndrome With TriheptanoinRecruitingNCT02696044Phase 2
14Study to Assess Safety and Efficacy of Fingolimod in Children With Rett SyndromeActive, not recruitingNCT02061137Phase 1, Phase 2
15Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome.Not yet recruitingNCT03059160Phase 2
16Trial of Dextromethorphan in Rett SyndromeTerminatedNCT00593957Phase 2
17An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum DisorderWithdrawnNCT02226458Phase 2
18An Open Label, Exploratory Study to Investigate the Treatment Effect of Glatiramer Acetate on Girls Woth Rett SyndromeUnknown statusNCT02023424Phase 1
19An Exploratory Trial of Ketamine for the Treatment of Rett SyndromeActive, not recruitingNCT02562820Phase 1
20Effects of Creatine Supplementation in Rett SyndromeCompletedNCT01147575
21Creatine Metabolism in Rett SyndromeCompletedNCT01198015
22Metabolic Evaluation of Nutrition in Rett SyndromeCompletedNCT00786071
23The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett SyndromeCompletedNCT00891956
24Genetic and Physical Characteristics of Rett SyndromeCompletedNCT00299312
25Functional Abilities in Rett SyndromeCompletedNCT00630422
26New Genes Involved in Molecular Etiology of Rett Syndrome Through DNA Microarray Comparative Genomic HybridizationCompletedNCT02885090
27Study of Cardiac and Paroxysmal Abnormalities in Rett SyndromeCompletedNCT00004773
28Nutritional Aspects of Rett SyndromeCompletedNCT00004656
29Study of the Pathogenesis of Rett SyndromeCompletedNCT00004807
30Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PWCompletedNCT02670694
31Advanced Grandparental Age as a Risk Factor for AutismCompletedNCT00464477
32Predictors of Caregiver Adaptation to Pervasive Developmental DisordersCompletedNCT00496210
33The Findings of MR Imaging in Rett SyndromeRecruitingNCT02903056
34Natural History of Rett Syndrome & Related DisordersRecruitingNCT02738281
35Rare Diseases Clinical Research Network: Neurophysiological CorrelatesRecruitingNCT03077308
36Effects of Standing on Non-Ambulatory Children With Neuromuscular ConditionsRecruitingNCT02428673
37Brainstem and PrematurityRecruitingNCT02669056
38Screening for Studies on Autism Spectrum DisordersRecruitingNCT00271622
39Osteoporosis in RETT SyndromeActive, not recruitingNCT02110797
40Biobanking of Rett Syndrome and Related DisordersNot yet recruitingNCT02705677
41Analysis of the Glutathione Cycle in Children With Rett SyndromeWithdrawnNCT02360436

Search NIH Clinical Center for Rett Syndrome


Cochrane evidence based reviews: rett syndrome

Genetic Tests for Rett Syndrome

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Genetic tests related to Rett Syndrome:

id Genetic test Affiliating Genes
1 Rett Syndrome27 24
2 Atypical Rett Syndrome27
3 Rett Syndrome, Zappella Variant27

Anatomical Context for Rett Syndrome

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MalaCards organs/tissues related to Rett Syndrome:

36
Brain, Eye, Testes, Bone, Lung, T cells, Skeletal muscle

Publications for Rett Syndrome

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Articles related to Rett Syndrome:

(show top 50)    (show all 860)
idTitleAuthorsYear
1
Cardiovascular Autonomic Dysfunction in Children and Adolescents With Rett Syndrome. (28351539)
2017
2
Novel therapeutic approaches: Rett syndrome and human induced pluripotent stem cell technology. (28447035)
2017
3
The Role of Noncoding RNAs in Neurodevelopmental Disorders: The Case of Rett Syndrome. (28523539)
2017
4
Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome. (28399682)
2017
5
Modeling Rett Syndrome Using TALEN-Edited MECP2 Mutant Cynomolgus Monkeys. (28525759)
2017
6
Use of Clarus Video System(Ar) in expected difficult airway in a patient with Rett syndrome. (27887736)
2017
7
Oxygen exchange and energy metabolism in erythrocytes of Rett syndrome and their relationships with respiratory alterations. (28063007)
2017
8
Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome. (27988477)
2017
9
Development of a Novel AAV Gene Therapy Cassette with Improved Safety Features and Efficacy in a Mouse Model of Rett Syndrome. (28497075)
2017
10
Transcriptome analysis of microglia in a mouse model of Rett syndrome: differential expression of genes associated with microglia/macrophage activation and cellular stress. (28367307)
2017
11
Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype. (28394409)
2017
12
Generation of a clonal induced pluripotent stem cell (iPSC) line expressing the mutant MECP2 allele from a Rett Syndrome patient fibroblast line. (28395743)
2017
13
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. (28348241)
2017
14
Stimulation of the brain serotonin receptor 7 rescues mitochondrial dysfunction in female mice from two models of Rett syndrome. (28419872)
2017
15
Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors. (28347601)
2017
16
Sustained attention in the face of distractors: A study of children with Rett syndrome. (28383972)
2017
17
Ghrelin improves dystonia and tremor in patients with Rett syndrome: A pilot study. (28477699)
2017
18
4-hydroxynonenal protein adducts: Key mediator in Rett syndrome oxinflammation. (28063942)
2017
19
Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome-like phenotypes. (28394263)
2017
20
Rett Syndrome-Current Status and Future Directions. (28341519)
2017
21
Clinical and biological progress over 50 years in Rett syndrome. (27934853)
2017
22
MeCP2, A Modulator of Neuronal Chromatin Organization Involved in Rett Syndrome. (28523538)
2017
23
Proteomic analysis of the Rett syndrome experimental model mecp2(Q63X) mutant zebrafish. (28062374)
2017
24
Early development in Rett syndrome - the benefits and difficulties of a birth cohort approach. (28534656)
2017
25
Effects of chronic exposure to low dose THIP on brainstem neuronal excitability in mouse models of Rett syndrome: Evidence from symptomatic females. (28069353)
2017
26
Mitochondrial Dysfunction in the Pathogenesis of Rett Syndrome: Implications for Mitochondria-Targeted Therapies. (28352216)
2017
27
Phenotypic variability in two infants sharing the same MECP2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome. (27379843)
2017
28
Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study. (28465761)
2017
29
50A years of Rett syndrome, 1966-2016 : From parents to clinicians to scientists, and for parents, clinicians, and scientist. (27459870)
2016
30
Exclusive expression of MeCP2 in the nervous system distinguishes between brain and peripheral Rett syndrome-like phenotypes. (27506980)
2016
31
Prevalence and associated features of depression in women with Rett syndrome. (27028200)
2016
32
A qualitative investigation of recovery after femoral fracture in Rett syndrome. (27511284)
2016
33
Progress in Rett Syndrome: from discovery to clinical trials. (27491553)
2016
34
A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome. (27265524)
2016
35
Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families. (27491552)
2016
36
Eye Gaze Technology as a Form of Augmentative and Alternative Communication for Individuals with Rett Syndrome: Experiences of Families in The Netherlands. (27069348)
2016
37
A Mutant Form of MeCP2 Protein Associated with Human Rett Syndrome Cannot Be Displaced from Methylated DNA by Notch in Xenopus Embryos. (27392147)
2016
38
Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands. (27064487)
2016
39
Longitudinal course of epilepsy in Rett syndrome and related disorders. (28007990)
2016
40
Breathing abnormalities in animal models of Rett syndrome a female neurogenetic disorder. (27884797)
2016
41
Generation and analysis of the Rett syndrome-associated MeCP2- null rat model. (27867150)
2016
42
MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning. (26984561)
2016
43
Effect of Serotonin 1A Agonists and Selective Serotonin Reuptake Inhibitors on Behavioral and Nighttime Respiratory Symptoms in Rett Syndrome. (27212420)
2016
44
Systemic Radical Scavenger Treatment of a Mouse Model of Rett Syndrome: Merits and Limitations of the Vitamin E Derivative Trolox. (27895554)
2016
45
The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome. (26647311)
2016
46
Change over a 16-month period in the psychological well-being of mothers of girls and women with Rett syndrome. (27019123)
2016
47
A Mother's Story: Fighting Rett Syndrome Head On. (27002361)
2016
48
Aspects of Attention in Rett Syndrome. (26996403)
2016
49
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. (27541642)
2016
50
The Incidence and Evolution of Parkinsonian Rigidity in Rett Syndrome: A Pilot Study. (27050783)
2016

Variations for Rett Syndrome

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

70 (show all 39)
id Symbol AA change Variation ID SNP ID
1MECP2p.Arg106TrpVAR_010272rs28934907
2MECP2p.Arg133CysVAR_010273rs28934904
3MECP2p.Phe155SerVAR_010274rs28934905
4MECP2p.Thr158MetVAR_010275rs28934906
5MECP2p.Pro101ArgVAR_010276rs61754453
6MECP2p.Leu124PheVAR_010277rs61755763
7MECP2p.Ser134CysVAR_010278rs61748390
8MECP2p.Pro152ArgVAR_010280rs61748404
9MECP2p.Arg306CysVAR_010282rs28935468
10MECP2p.Leu100ValVAR_017462rs28935168
11MECP2p.Glu10GlnVAR_018180rs61754421
12MECP2p.Asp97TyrVAR_018182rs61754448
13MECP2p.Pro101HisVAR_018183rs61754453
14MECP2p.Pro101LeuVAR_018184rs61754453
15MECP2p.Pro101ThrVAR_018185
16MECP2p.Arg106GlnVAR_018186rs61754457
17MECP2p.Arg111GlyVAR_018187rs61754459
18MECP2p.Gln128ProVAR_018188rs61748383
19MECP2p.Arg133HisVAR_018189rs61748389
20MECP2p.Lys135GluVAR_018190rs61748391
21MECP2p.Asp156GlyVAR_018191rs61748407
22MECP2p.Lys210IleVAR_018197rs61749730
23MECP2p.Pro225ArgVAR_018198rs61749715
24MECP2p.Pro302AlaVAR_018206rs61751373
25MECP2p.Pro302HisVAR_018207rs61749723
26MECP2p.Pro302LeuVAR_018208rs61749723
27MECP2p.Pro302ArgVAR_018209rs61749723
28MECP2p.Lys305ArgVAR_018210rs61751441
29MECP2p.Arg306HisVAR_018211rs61751443
30MECP2p.Pro322AlaVAR_018212rs61751449
31MECP2p.Pro322LeuVAR_018213rs61751450
32MECP2p.Arg344TrpVAR_018214rs61752361
33MECP2p.Asp97GluVAR_023552rs61754449
34MECP2p.Leu100ArgVAR_023553rs61754451
35MECP2p.Pro101SerVAR_023554rs61754452
36MECP2p.Tyr120AspVAR_023555rs267608454
37MECP2p.Phe155IleVAR_023556rs61748406
38MECP2p.Thr158AlaVAR_023557rs61748411
39MECP2p.Gly161ValVAR_023558rs61748417

Clinvar genetic disease variations for Rett Syndrome:

5 (show all 433)
id Gene Variation Type Significance SNP ID Assembly Location
1CDKL5NM_ 003159.2(CDKL5): c.455G> T (p.Cys152Phe)SNVPathogenicrs122460157GRCh37Chr X, 18600062: 18600062
2CDKL5NM_ 003159.2(CDKL5): c.525A> T (p.Arg175Ser)SNVPathogenicrs61749700GRCh37Chr X, 18602444: 18602444
3CDKL5NM_ 003159.2(CDKL5): c.2500C> T (p.Gln834Ter)SNVPathogenicrs122460158GRCh37Chr X, 18646494: 18646494
4CDKL5NM_ 003159.2(CDKL5): c.119C> T (p.Ala40Val)SNVPathogenicrs122460159GRCh37Chr X, 18582616: 18582616
5MECP2NM_ 004992.3(MECP2): c.464T> C (p.Phe155Ser)SNVPathogenicrs28934905GRCh37Chr X, 153296815: 153296815
6MECP2NM_ 004992.3(MECP2): c.473C> T (p.Thr158Met)SNVPathogenic/ Likely pathogenicrs28934906GRCh37Chr X, 153296806: 153296806
7MECP2MECP2, 1-BP DEL, 806GdeletionPathogenic
8MECP2MECP2, 44-BP DEL, NT1152deletionPathogenic
9MECP2NM_ 004992.3(MECP2): c.316C> T (p.Arg106Trp)SNVPathogenic/ Likely pathogenicrs28934907GRCh37Chr X, 153297719: 153297719
10MECP2NM_ 004992.3(MECP2): c.808C> T (p.Arg270Ter)SNVPathogenicrs61750240GRCh37Chr X, 153296471: 153296471
11MECP2MECP2, IVS2, A-G, -2SNVPathogenic
12MECP2NM_ 004992.3(MECP2): c.1180G> T (p.Glu394Ter)SNVPathogenicrs63094662GRCh37Chr X, 153296099: 153296099
13MECP2NM_ 004992.3(MECP2): c.167_ 168delCC (p.Pro56Argfs)deletionPathogenicrs267608434GRCh37Chr X, 153297867: 153297868
14MECP2NM_ 001110792.1(MECP2): c.916C> T (p.Arg306Ter)SNVPathogenic/ Likely pathogenic, risk factorrs61751362GRCh37Chr X, 153296399: 153296399
15MECP2MECP2, 41-BP DEL, NT1159deletionPathogenic
16MECP2NM_ 004992.3(MECP2): c.419C> T (p.Ala140Val)SNVPathogenic/ Likely pathogenicrs28934908GRCh37Chr X, 153296860: 153296860
17MECP2NM_ 004992.3(MECP2): c.916C> T (p.Arg306Cys)SNVPathogenicrs28935468GRCh37Chr X, 153296363: 153296363
18MECP2MECP2, 1-BP DEL, 76CdeletionPathogenic
19MECP2MECP2, 14-BP DUP, NT766duplicationPathogenic
20MECP2NM_ 004992.3(MECP2): c.502C> T (p.Arg168Ter)SNVPathogenicrs61748421GRCh37Chr X, 153296777: 153296777
21MECP2NM_ 004992.3(MECP2): c.763C> T (p.Arg255Ter)SNVPathogenic/ Likely pathogenicrs61749721GRCh37Chr X, 153296516: 153296516
22MECP2MECP2, 52-BP DELdeletionPathogenic
23MECP2NM_ 004992.3(MECP2): c.423C> G (p.Tyr141Ter)SNVPathogenicrs61748396GRCh37Chr X, 153296856: 153296856
24MECP2NM_ 004992.3(MECP2): c.1363G> T (p.Glu455Ter)SNVPathogenicrs104894864GRCh37Chr X, 153295916: 153295916
25MECP2MECP2, 11-BP DEL, EX1deletionPathogenic
26MECP2MECP2, 5-BP DUP, EX1duplicationPathogenic
27MECP2MECP2, 1-BP DEL AND 2-BP INSindelPathogenic
28MECP2MECP2, 2-BP DEL, 488GGdeletionPathogenic
29MECP2NM_ 004992.3(MECP2): c.674C> T (p.Pro225Leu)SNVPathogenicrs61749715GRCh37Chr X, 153296605: 153296605
30MECP2NM_ 004992.3(MECP2): c.964C> T (p.Pro322Ser)SNVPathogenicrs61751449GRCh37Chr X, 153296315: 153296315
31MECP2NM_ 001110792.1(MECP2): c.5C> T (p.Ala2Val)SNVPathogenic/ Likely pathogenicrs179363901GRCh37Chr X, 153363118: 153363118
32MECP2NM_ 004992.3(MECP2): c.710delG (p.Gly237Valfs)deletionPathogenicrs61749743GRCh37Chr X, 153296569: 153296569
33MECP2NM_ 004992.3(MECP2): c.(?_ -1)_ (26_ ?)deldeletionPathogenic
34MECP2NM_ 004992.3(MECP2): c.1009_ 1027del19 (p.Lys337Glyfs)deletionPathogenicrs267608559GRCh37Chr X, 153296252: 153296270
35MECP2NM_ 004992.3(MECP2): c.100_ 103delGATA (p.Asp34Argfs)deletionPathogenicrs61754428GRCh37Chr X, 153297932: 153297935
36MECP2NM_ 004992.3(MECP2): c.1029delG (p.Arg344Glyfs)deletionPathogenicrs61751457GRCh37Chr X, 153296250: 153296250
37MECP2NM_ 004992.3(MECP2): c.1038C> G (p.Ser346Arg)SNVPathogenicrs61752365GRCh37Chr X, 153296241: 153296241
38MECP2NM_ 004992.3(MECP2): c.1069_ 1071delAGC (p.Ser357del)deletionPathogenicrs267608564GRCh37Chr X, 153296208: 153296210
39MECP2NM_ 004992.3(MECP2): c.1079C> A (p.Ser360Ter)SNVPathogenicrs61752372GRCh37Chr X, 153296200: 153296200
40MECP2NM_ 004992.3(MECP2): c.107_ 108delAA (p.Lys36Argfs)deletionPathogenicrs267608425GRCh37Chr X, 153297927: 153297928
41MECP2NM_ 001110792.1(MECP2): c.143_ 149delAAGAAGA (p.Lys48Argfs)deletionPathogenicrs267608424GRCh37Chr X, 153297922: 153297928
42MECP2NM_ 004992.3(MECP2): c.1087A> T (p.Lys363Ter)SNVPathogenicrs61752375GRCh37Chr X, 153296192: 153296192
43MECP2NM_ 004992.3(MECP2): c.108_ 111delAGAA (p.Glu37Argfs)deletionPathogenicrs267608426GRCh37Chr X, 153297924: 153297927
44MECP2NM_ 004992.3(MECP2): c.1099_ 1118del20 (p.His367Argfs)deletionPathogenicrs267608567GRCh37Chr X, 153296161: 153296180
45MECP2NM_ 004992.3(MECP2): c.1118C> G (p.Ser373Ter)SNVPathogenicrs267608569GRCh37Chr X, 153296161: 153296161
46MECP2NM_ 001110792.1(MECP2): c.1163_ 1173delCAAAGGCCCCC (p.Pro388Argfs)deletionPathogenicrs267608570GRCh37Chr X, 153296142: 153296152
47MECP2NM_ 004992.3(MECP2): c.1145_ 1194del50 (p.Leu382Profs)deletionPathogenicrs267608573GRCh37Chr X, 153296085: 153296134
48MECP2NM_ 004992.3(MECP2): c.1150_ 1192del43 (p.Pro384Thrfs)deletionPathogenicrs63749023GRCh37Chr X, 153296087: 153296129
49MECP2NM_ 004992.3(MECP2): c.1151_ 1188del38 (p.Pro384Argfs)deletionPathogenicrs267608574GRCh37Chr X, 153296091: 153296128
50MECP2NM_ 004992.3(MECP2): c.1151_ 1191del41 (p.Pro384Argfs)deletionPathogenicrs63749024GRCh37Chr X, 153296088: 153296128
51MECP2NM_ 001110792.1(MECP2): c.1188_ 1191delACCC (p.Pro397Cysfs)deletionPathogenicrs267608576GRCh38Chr X, 154030673: 154030676
52MECP2NM_ 004992.3(MECP2): c.1152_ 1195del44 (p.Pro385Hisfs)deletionPathogenicrs267608372GRCh37Chr X, 153296084: 153296127
53MECP2NM_ 004992.3(MECP2): c.1153_ 1190del38 (p.Pro385Glyfs)deletionPathogenicrs267608577GRCh37Chr X, 153296089: 153296126
54MECP2NM_ 004992.3(MECP2): c.1154_ 1185del32 (p.Pro385Leufs)deletionPathogenicrs267608578GRCh37Chr X, 153296094: 153296125
55MECP2NM_ 004992.3(MECP2): c.1154_ 1197del44 (p.Pro385Hisfs)deletionPathogenicrs267608579GRCh37Chr X, 153296082: 153296125
56MECP2NM_ 004992.3(MECP2): c.1155_ 1183del29 (p.Pro387Argfs)deletionPathogenicrs267608580GRCh37Chr X, 153296096: 153296124
57MECP2NM_ 004992.3(MECP2): c.1155_ 1200del46 (p.Leu386Alafs)deletionPathogenic/ Likely pathogenicrs267608329GRCh37Chr X, 153296079: 153296124
58MECP2NM_ 004992.3(MECP2): c.1156_ 1157dupCT (p.Pro387Cysfs)duplicationPathogenicrs267608584GRCh37Chr X, 153296122: 153296123
59MECP2NM_ 004992.3(MECP2): c.1156_ 1172del17 (p.Leu386Terfs)deletionPathogenicrs267608582GRCh37Chr X, 153296107: 153296123
60MECP2NM_ 004992.3(MECP2): c.1157_ 1187del31 (p.Leu386Profs)deletionPathogenicrs61754419GRCh37Chr X, 153296092: 153296122
61MECP2NM_ 004992.3(MECP2): c.1157_ 1188del32 (p.Leu386Argfs)deletionPathogenicrs267608585GRCh37Chr X, 153296091: 153296122
62MECP2NM_ 004992.3(MECP2): c.1157_ 1197del41 (p.Leu386Hisfs)deletionPathogenicrs267608327GRCh37Chr X, 153296082: 153296122
63MECP2NM_ 004992.3(MECP2): c.1157_ 1199del43 (p.Leu386Profs)deletionPathogenicrs267608587GRCh37Chr X, 153296080: 153296122
64MECP2NM_ 004992.3(MECP2): c.1157_ 1200del44 (p.Leu386Glnfs)deletionPathogenicrs63749748GRCh37Chr X, 153296079: 153296122
65MECP2NM_ 001110792.1(MECP2): c.1194_ 1203delGCCCCCACCT (p.Pro399Hisfs)deletionPathogenicrs63583161GRCh37Chr X, 153296112: 153296121
66MECP2NM_ 004992.3(MECP2): c.1158_ 1186del29 (p.Pro387Argfs)deletionPathogenicrs63749029GRCh37Chr X, 153296093: 153296121
67MECP2NM_ 004992.3(MECP2): c.1158_ 1186del29insCCA (p.Pro387Hisfs)indelPathogenicrs386134271GRCh37Chr X, 153296093: 153296121
68MECP2NM_ 004992.3(MECP2): c.1158_ 1198del41 (p.Pro387Glnfs)deletionPathogenicrs267608588GRCh37Chr X, 153296081: 153296121
69MECP2NM_ 004992.3(MECP2): c.1158_ 1200del43 (p.Pro387Alafs)deletionPathogenicrs63009262GRCh37Chr X, 153296079: 153296121
70MECP2NM_ 004992.3(MECP2): c.1159_ 1160delCCinsT (p.Pro387Serfs)indelPathogenicrs267608590GRCh37Chr X, 153296119: 153296120
71MECP2NM_ 004992.3(MECP2): c.1159_ 1201del43 (p.Pro387Alafs)deletionPathogenicrs63749030GRCh37Chr X, 153296078: 153296120
72MECP2NM_ 004992.3(MECP2): c.1160_ 1166delCCCCACC (p.Pro387Leufs)deletionPathogenicrs267608595GRCh37Chr X, 153296113: 153296119
73MECP2NM_ 004992.3(MECP2): c.1160_ 1185del26 (p.Pro387Leufs)deletionPathogenicrs267608591GRCh37Chr X, 153296094: 153296119
74MECP2NM_ 004992.3(MECP2): c.1160_ 1188del29 (p.Pro387Argfs)deletionPathogenicrs267608593GRCh37Chr X, 153296091: 153296119
75MECP2NM_ 004992.3(MECP2): c.1160_ 1200del41 (p.Pro387Glnfs)deletionPathogenicrs267608592GRCh37Chr X, 153296079: 153296119
76MECP2NM_ 004992.3(MECP2): c.1161_ 1205del45insA (p.Pro389Terfs)indelPathogenicrs267608596GRCh37Chr X, 153296074: 153296118
77MECP2NM_ 004992.3(MECP2): c.1163_ 1179del17 (p.Pro388Argfs)deletionPathogenicrs267608601GRCh37Chr X, 153296100: 153296116
78MECP2NM_ 004992.3(MECP2): c.1163_ 1188del26 (p.Pro388Argfs)deletionPathogenicrs267608600GRCh37Chr X, 153296091: 153296116
79MECP2NM_ 004992.3(MECP2): c.1163_ 1197del35 (p.Pro388Hisfs)deletionPathogenicrs267608589GRCh37Chr X, 153296082: 153296116
80MECP2NM_ 004992.3(MECP2): c.1164_ 1206del43 (p.Pro389Leufs)deletionPathogenicrs267608603GRCh37Chr X, 153296073: 153296115
81MECP2NM_ 004992.3(MECP2): c.1164delA (p.Pro389Leufs)deletionPathogenicrs267608606GRCh37Chr X, 153296115: 153296115
82MECP2NM_ 004992.3(MECP2): c.1165_ 1190del26 (p.Pro389Glyfs)deletionPathogenicrs267608607GRCh37Chr X, 153296089: 153296114
83MECP2NM_ 004992.3(MECP2): c.1167_ 1200del34 (p.Pro390Alafs)deletionPathogenicrs267608343GRCh37Chr X, 153296079: 153296112
84MECP2NM_ 004992.3(MECP2): c.(?_ 1169)_ (1170_ ?)del (p.(?))deletionPathogenic
85MECP2NM_ 004992.3(MECP2): c.1170_ 1207del38 (p.Pro391Terfs)deletionPathogenicrs267608609GRCh37Chr X, 153296072: 153296109
86MECP2NM_ 004992.3(MECP2): c.117dupA (p.Glu40Argfs)duplicationPathogenicrs267608427GRCh37Chr X, 153297918: 153297918
87MECP2NM_ 004992.3(MECP2): c.1180_ 1205del26 (p.Glu394Profs)deletionPathogenicrs267608333GRCh37Chr X, 153296074: 153296099
88MECP2NM_ 004992.3(MECP2): c.1189G> T (p.Glu397Ter)SNVPathogenicrs56268439GRCh37Chr X, 153296090: 153296090
89MECP2NM_ 004992.3(MECP2): c.1190dupA (p.Asp398Glyfs)duplicationPathogenicrs267608610GRCh37Chr X, 153296089: 153296089
90MECP2NM_ 004992.3(MECP2): c.1194_ 1195insT (p.Pro399Serfs)insertionPathogenicrs61753011GRCh37Chr X, 153296084: 153296085
91MECP2NM_ 004992.3(MECP2): c.1197dupC (p.Thr400Hisfs)duplicationPathogenicrs267608612GRCh37Chr X, 153296082: 153296082
92MECP2NM_ 004992.3(MECP2): c.119_ 120delAG (p.Glu40Glyfs)deletionPathogenicrs267608428GRCh37Chr X, 153297915: 153297916
93MECP2NM_ 004992.3(MECP2): c.1200dupC (p.Ser401Glnfs)duplicationPathogenicrs267608613GRCh37Chr X, 153296079: 153296079
94MECP2NM_ 004992.3(MECP2): c.1202dupG (p.Ser401Argfs)duplicationPathogenicrs267608614GRCh37Chr X, 153296077: 153296077
95MECP2NM_ 004992.3(MECP2): c.1216C> T (p.Gln406Ter)SNVPathogenicrs61753965GRCh37Chr X, 153296063: 153296063
96MECP2NM_ 004992.3(MECP2): c.1223_ 1265del43 (p.Leu408Serfs)deletionPathogenicrs63749038GRCh37Chr X, 153296014: 153296056
97MECP2NM_ 004992.3(MECP2): c.1235_ 1260del26 (p.Val412Glyfs)deletionPathogenicrs267608617GRCh37Chr X, 153296019: 153296044
98MECP2NM_ 004992.3(MECP2): c.1265_ 1289del25insAGCGGCCG (p.Gly422Glufs)indelPathogenicrs63749064GRCh37Chr X, 153295990: 153296014
99MECP2NM_ 004992.3(MECP2): c.126dupG (p.His43Alafs)duplicationPathogenicrs61754430GRCh37Chr X, 153297909: 153297909
100MECP2NM_ 004992.3(MECP2): c.1308_ 1309delTC (p.Gln437Alafs)deletionPathogenicrs61753972GRCh37Chr X, 153295970: 153295971
101MECP2NM_ 004992.3(MECP2): c.1320dupT (p.Ala441Cysfs)duplicationPathogenicrs267608624GRCh37Chr X, 153295959: 153295959
102MECP2NM_ 004992.3(MECP2): c.1357C> T (p.Arg453Ter)SNVPathogenicrs61753979GRCh37Chr X, 153295922: 153295922
103MECP2NM_ 004992.3(MECP2): c.1364_ 1365insC (p.Glu455Aspfs)insertionPathogenicrs267608627GRCh37Chr X, 153295914: 153295915
104MECP2NM_ 004992.3(MECP2): c.(?_ 1367)_ (1431_ ?)del (p.(?))deletionPathogenic
105MECP2NM_ 004992.3(MECP2): c.140dupA (p.Pro48Alafs)duplicationPathogenicrs61754431GRCh37Chr X, 153297895: 153297895
106MECP2NM_ 004992.3(MECP2): c.1450_ *12del24deletionPathogenicrs267608637GRCh37Chr X, 153295806: 153295829
107MECP2NM_ 004992.3(MECP2): c.1450_ 1453delAGAG (p.Arg484Leufs)deletionPathogenicrs267608638GRCh37Chr X, 153295826: 153295829
108MECP2NM_ 001110792.1(MECP2): c.1488_ 1489dupAG (p.Val497Glufs)duplicationPathogenicrs267608639GRCh37Chr X, 153295826: 153295827
109MECP2NM_ 004992.3(MECP2): c.1455_ 1456dupTA (p.Ser486Ilefs)duplicationPathogenicrs267608641GRCh37Chr X, 153295823: 153295824
110MECP2NM_ 004992.3(MECP2): c.146C> A (p.Ser49Ter)SNVPathogenicrs61754432GRCh37Chr X, 153297889: 153297889
111MECP2NM_ 004992.3(MECP2): c.146C> G (p.Ser49Ter)SNVPathogenicrs61754432GRCh37Chr X, 153297889: 153297889
112MECP2NM_ 004992.3(MECP2): c.189_ 190delGA (p.Glu63Aspfs)deletionPathogenicrs61754436GRCh37Chr X, 153297845: 153297846
113MECP2NM_ 004992.3(MECP2): c.194C> G (p.Ser65Ter)SNVPathogenicrs61754437GRCh37Chr X, 153297841: 153297841
114MECP2NM_ 004992.3(MECP2): c.201delG (p.Ser68Glnfs)deletionPathogenicrs61754438GRCh37Chr X, 153297834: 153297834
115MECP2NM_ 004992.3(MECP2): c.203C> G (p.Ser68Ter)SNVPathogenicrs267608438GRCh37Chr X, 153297832: 153297832
116MECP2NM_ 004992.3(MECP2): c.215_ 216insT (p.Ala73Glyfs)insertionPathogenicrs61754441GRCh37Chr X, 153297819: 153297820
117MECP2NM_ 004992.3(MECP2): c.215dupC (p.Ala73Glyfs)duplicationPathogenicrs61754441GRCh37Chr X, 153297820: 153297820
118MECP2NM_ 004992.3(MECP2): c.233delC (p.Ser78Leufs)deletionPathogenicrs267608442GRCh37Chr X, 153297802: 153297802
119MECP2NM_ 004992.3(MECP2): c.243dupC (p.Lys82Glnfs)duplicationPathogenicrs267608443GRCh37Chr X, 153297792: 153297792
120MECP2NM_ 004992.3(MECP2): c.258_ 259delCA (p.Ile87Hisfs)deletionPathogenicrs267608444GRCh37Chr X, 153297776: 153297777
121MECP2NM_ 004992.3(MECP2): c.274G> T (p.Gly92Ter)SNVPathogenicrs267608445GRCh37Chr X, 153297761: 153297761
122MECP2NM_ 004992.3(MECP2): c.275dupG (p.Pro93Thrfs)duplicationPathogenicrs267608446GRCh37Chr X, 153297760: 153297760
123MECP2NM_ 004992.3(MECP2): c.28G> T (p.Glu10Ter)SNVPathogenicrs61754421GRCh37Chr X, 153298007: 153298007
124MECP2NM_ 004992.3(MECP2): c.295_ 297delACC (p.Thr99del)deletionPathogenicrs267608449GRCh37Chr X, 153297738: 153297740
125MECP2NM_ 004992.3(MECP2): c.302C> A (p.Pro101His)SNVPathogenicrs61754453GRCh37Chr X, 153297733: 153297733
126MECP2NM_ 004992.3(MECP2): c.302C> T (p.Pro101Leu)SNVPathogenicrs61754453GRCh37Chr X, 153297733: 153297733
127MECP2NM_ 004992.3(MECP2): c.311G> A (p.Trp104Ter)SNVPathogenicrs61754455GRCh37Chr X, 153297724: 153297724
128MECP2NM_ 001110792.1(MECP2): c.347_ 359delGGACACGGAAGCT (p.Trp116Leufs)deletionPathogenicrs63749010GRCh37Chr X, 153297712: 153297724
129MECP2NM_ 004992.3(MECP2): c.315dupA (p.Arg106Thrfs)duplicationPathogenicrs61754456GRCh37Chr X, 153297720: 153297720
130MECP2NM_ 004992.3(MECP2): c.317G> A (p.Arg106Gln)SNVPathogenicrs61754457GRCh37Chr X, 153297718: 153297718
131MECP2NM_ 004992.3(MECP2): c.326dupA (p.Gln110Alafs)duplicationPathogenicrs267608452GRCh37Chr X, 153297709: 153297709
132MECP2NM_ 004992.3(MECP2): c.345delC (p.Ser116Leufs)deletionPathogenicrs61755761GRCh37Chr X, 153297690: 153297690
133MECP2NM_ 001110792.1(MECP2): c.71_ 78dupAGTCAGAA (p.Asp27Serfs)duplicationPathogenicrs63749008GRCh37Chr X, 153297993: 153298000
134MECP2NM_ 004992.3(MECP2): c.375delC (p.Asn126Ilefs)deletionPathogenicrs267608457GRCh37Chr X, 153297660: 153297660
135MECP2NM_ 004992.3(MECP2): c.382C> T (p.Gln128Ter)SNVPathogenicrs267608469GRCh37Chr X, 153296897: 153296897
136MECP2NM_ 004992.3(MECP2): c.401C> G (p.Ser134Cys)SNVPathogenic/ Likely pathogenicrs61748390GRCh37Chr X, 153296878: 153296878
137MECP2NM_ 004992.3(MECP2): c.411delG (p.Glu137Aspfs)deletionPathogenicrs61748393GRCh37Chr X, 153296868: 153296868
138MECP2NM_ 004992.3(MECP2): c.413T> A (p.Leu138Ter)SNVPathogenicrs267608475GRCh37Chr X, 153296866: 153296866
139MECP2NM_ 004992.3(MECP2): c.420delG (p.Tyr141Thrfs)deletionPathogenicrs267608476GRCh37Chr X, 153296859: 153296859
140MECP2NM_ 004992.3(MECP2): c.428_ 429insT (p.Glu143Aspfs)insertionPathogenicrs61748398GRCh37Chr X, 153296850: 153296851
141MECP2NM_ 004992.3(MECP2): c.430A> T (p.Lys144Ter)SNVPathogenicrs61748399GRCh37Chr X, 153296849: 153296849
142MECP2NM_ 004992.3(MECP2): c.431delA (p.Lys144Argfs)deletionPathogenicrs61748400GRCh37Chr X, 153296848: 153296848
143MECP2NM_ 004992.3(MECP2): c.439delG (p.Asp147Thrfs)deletionPathogenicrs62952161GRCh37Chr X, 153296840: 153296840
144MECP2NM_ 004992.3(MECP2): c.451delG (p.Asp151Thrfs)deletionPathogenicrs61748402GRCh37Chr X, 153296828: 153296828
145MECP2NM_ 004992.3(MECP2): c.470_ 471delTC (p.Phe157Tyrfs)deletionPathogenicrs267608483GRCh38Chr X, 154031357: 154031358
146MECP2NM_ 004992.3(MECP2): c.470dupT (p.Thr158Hisfs)duplicationPathogenicrs267608482GRCh37Chr X, 153296809: 153296809
147MECP2NM_ 004992.3(MECP2): c.475delG (p.Val159Terfs)deletionPathogenicrs267608485GRCh37Chr X, 153296804: 153296804
148MECP2NM_ 004992.3(MECP2): c.480_ 481delTG (p.Gly161Glufs)deletionPathogenicrs267608486GRCh37Chr X, 153296798: 153296799
149MECP2NM_ 004992.3(MECP2): c.480delT (p.Arg162Glufs)deletionPathogenicrs61748415GRCh37Chr X, 153296799: 153296799
150MECP2NM_ 004992.3(MECP2): c.483delG (p.Arg162Glufs)deletionPathogenicrs61748418GRCh37Chr X, 153296796: 153296796
151MECP2NM_ 004992.3(MECP2): c.484dupA (p.Arg162Lysfs)duplicationPathogenicrs267608487GRCh37Chr X, 153296795: 153296795
152MECP2NM_ 004992.3(MECP2): c.488_ 489delGG (p.Gly163Glufs)deletionPathogenicrs267608488GRCh37Chr X, 153296790: 153296791
153MECP2NM_ 004992.3(MECP2): c.508C> T (p.Gln170Ter)SNVPathogenicrs61748425GRCh37Chr X, 153296771: 153296771
154MECP2NM_ 004992.3(MECP2): c.50dupA (p.Asp17Glufs)duplicationPathogenicrs267608416GRCh37Chr X, 153297985: 153297985
155MECP2NM_ 004992.3(MECP2): c.531delA (p.Lys177Asnfs)deletionPathogenicrs61749703GRCh37Chr X, 153296748: 153296748
156MECP2NM_ 004992.3(MECP2): c.538A> T (p.Lys180Ter)SNVPathogenicrs267608495GRCh37Chr X, 153296741: 153296741
157MECP2NM_ 004992.3(MECP2): c.543_ 544delTC (p.Pro182Argfs)deletionPathogenicrs267608496GRCh37Chr X, 153296735: 153296736
158MECP2NM_ 004992.3(MECP2): c.554delG (p.Gly185Alafs)deletionPathogenicrs61749707GRCh37Chr X, 153296725: 153296725
159MECP2NM_ 004992.3(MECP2): c.55C> T (p.Gln19Ter)SNVPathogenicrs61754425GRCh37Chr X, 153297980: 153297980
160MECP2NM_ 004992.3(MECP2): c.566delG (p.Gly189Aspfs)deletionPathogenicrs61749708GRCh37Chr X, 153296713: 153296713
161MECP2NM_ 004992.3(MECP2): c.566dupG (p.Arg190Thrfs)duplicationPathogenicrs267608499GRCh37Chr X, 153296713: 153296713
162MECP2NM_ 004992.3(MECP2): c.567dupA (p.Arg190Thrfs)duplicationPathogenicrs61749709GRCh37Chr X, 153296712: 153296712
163MECP2NM_ 004992.3(MECP2): c.56dupA (p.Leu21Profs)duplicationPathogenicrs267608417GRCh37Chr X, 153297979: 153297979
164MECP2NM_ 004992.3(MECP2): c.592A> T (p.Arg198Ter)SNVPathogenicrs61749717GRCh37Chr X, 153296687: 153296687
165MECP2NM_ 004992.3(MECP2): c.598A> T (p.Lys200Ter)SNVPathogenicrs61749718GRCh37Chr X, 153296681: 153296681
166MECP2NM_ 004992.3(MECP2): c.601dupG (p.Ala201Glyfs)duplicationPathogenicrs267608503GRCh37Chr X, 153296678: 153296678
167MECP2NM_ 004992.3(MECP2): c.608_ 609insA (p.Ser204Valfs)insertionPathogenicrs267608506GRCh37Chr X, 153296670: 153296671
168MECP2NM_ 001110792.1(MECP2): c.647_ 648delCAinsAG (p.Ser216Ter)indelPathogenicrs267608507GRCh37Chr X, 153296667: 153296668
169MECP2NM_ 004992.3(MECP2): c.613G> T (p.Glu205Ter)SNVPathogenicrs61749726GRCh37Chr X, 153296666: 153296666
170MECP2NM_ 004992.3(MECP2): c.617delG (p.Gly206Valfs)deletionPathogenicrs61749727GRCh37Chr X, 153296662: 153296662
171MECP2NM_ 004992.3(MECP2): c.620dupT (p.Gln208Alafs)duplicationPathogenicrs61749728GRCh37Chr X, 153296659: 153296659
172MECP2NM_ 004992.3(MECP2): c.622C> T (p.Gln208Ter)SNVPathogenicrs61749729GRCh37Chr X, 153296657: 153296657
173MECP2NM_ 004992.3(MECP2): c.(?_ 631)_ (657_ ?)del (p.(?))deletionPathogenic
174MECP2NM_ 001110792.1(MECP2): c.677_ 689delAGAAAAGTCCTGG (p.Glu226Glyfs)deletionLikely pathogenicrs267608386GRCh37Chr X, 153296626: 153296638
175MECP2NM_ 004992.3(MECP2): c.64A> T (p.Lys22Ter)SNVPathogenicrs62641234GRCh37Chr X, 153297971: 153297971
176MECP2NM_ 004992.3(MECP2): c.651_ 652delTG (p.Gly218Glufs)deletionPathogenicrs267608510GRCh37Chr X, 153296627: 153296628
177MECP2NM_ 004992.3(MECP2): c.654_ 657delGAAG (p.Lys219Serfs)deletionPathogenicrs61749734GRCh37Chr X, 153296622: 153296625
178MECP2NM_ 004992.3(MECP2): c.673C> A (p.Pro225Thr)SNVPathogenicrs267608513GRCh37Chr X, 153296606: 153296606
179MECP2NM_ 004992.3(MECP2): c.674C> G (p.Pro225Arg)SNVPathogenicrs61749715GRCh37Chr X, 153296605: 153296605
180MECP2NM_ 004992.3(MECP2): c.676_ 677insA (p.Phe226Tyrfs)insertionPathogenicrs267608514GRCh37Chr X, 153296602: 153296603
181MECP2NM_ 004992.3(MECP2): c.677_ 678insA (p.Phe226Leufs)insertionPathogenicrs61749736GRCh37Chr X, 153296601: 153296602
182MECP2NM_ 004992.3(MECP2): c.686C> A (p.Ser229Ter)SNVPathogenicrs61749739GRCh37Chr X, 153296593: 153296593
183MECP2NM_ 004992.3(MECP2): c.695delG (p.Gly232Alafs)deletionPathogenicrs63260260GRCh37Chr X, 153296584: 153296584
184MECP2NM_ 004992.3(MECP2): c.695dupG (p.Lys233Glnfs)duplicationPathogenicrs267608516GRCh37Chr X, 153296584: 153296584
185MECP2NM_ 004992.3(MECP2): c.696delC (p.Lys233Argfs)deletionPathogenicrs61749741GRCh37Chr X, 153296583: 153296583
186MECP2NM_ 004992.3(MECP2): c.710dupG (p.Gly238Trpfs)duplicationPathogenicrs267608517GRCh37Chr X, 153296569: 153296569
187MECP2NM_ 004992.3(MECP2): c.720dupC (p.Thr241Hisfs)duplicationPathogenicrs267608518GRCh37Chr X, 153296559: 153296559
188MECP2NM_ 004992.3(MECP2): c.734_ 759del26 (p.Val245Glufs)deletionPathogenicrs267608519GRCh37Chr X, 153296520: 153296545
189MECP2NM_ 004992.3(MECP2): c.736_ 737insAT (p.Met246Asnfs)insertionPathogenicrs61749749GRCh37Chr X, 153296542: 153296543
190MECP2NM_ 001110792.1(MECP2): c.772_ 779delATGGTGATinsGTG (p.Met258Valfs)indelPathogenicrs267608520GRCh37Chr X, 153296536: 153296543
191MECP2NM_ 004992.3(MECP2): c.739delG (p.Val247Terfs)deletionPathogenicrs61749750GRCh37Chr X, 153296540: 153296540
192MECP2NM_ 001110792.1(MECP2): c.783_ 787dupACGCC (p.Pro263Hisfs)duplicationPathogenicrs61749751GRCh37Chr X, 153296528: 153296532
193MECP2NM_ 004992.3(MECP2): c.748_ 749insT (p.Arg250Leufs)insertionPathogenicrs61749752GRCh37Chr X, 153296530: 153296531
194MECP2NM_ 001110792.1(MECP2): c.784_ 789delCGCCCCinsGGCCG (p.Arg262Glyfs)indelPathogenicrs61750225GRCh37Chr X, 153296526: 153296531
195MECP2NM_ 004992.3(MECP2): c.748dupC (p.Arg250Profs)duplicationPathogenicrs61749752GRCh37Chr X, 153296531: 153296531
196MECP2NM_ 001110792.1(MECP2): c.786delCinsTCAGGAAGCTT (p.Pro263Glnfs)indelPathogenicrs267608521GRCh37Chr X, 153296529: 153296529
197MECP2NM_ 004992.3(MECP2): c.752_ 753dupCC (p.Gly252Profs)duplicationPathogenicrs267608522GRCh37Chr X, 153296526: 153296527
198MECP2NM_ 004992.3(MECP2): c.753delC (p.Gly252Alafs)deletionPathogenicrs61750231GRCh37Chr X, 153296526: 153296526
199MECP2NM_ 004992.3(MECP2): c.753dupC (p.Gly252Argfs)duplicationPathogenicrs61749751GRCh37Chr X, 153296526: 153296526
200MECP2NM_ 004992.3(MECP2): c.755delG (p.Gly252Alafs)deletionPathogenicrs61750233GRCh37Chr X, 153296524: 153296524
201MECP2NM_ 004992.3(MECP2): c.755dupG (p.Arg253Glnfs)duplicationPathogenicrs61750232GRCh37Chr X, 153296524: 153296524
202MECP2NM_ 004992.3(MECP2): c.756_ 759delCAGG (p.Arg253Serfs)deletionPathogenicrs267608523GRCh37Chr X, 153296520: 153296523
203MECP2NM_ 001110792.1(MECP2): c.792_ 799dupCAGGAAGC (p.Arg267Profs)duplicationPathogenicrs61750235GRCh37Chr X, 153296516: 153296523
204MECP2NM_ 001110792.1(MECP2): c.802_ 815dupAAAGCTGAGGCCGA (p.Asp272Glufs)duplicationPathogenicrs267608524GRCh37Chr X, 153296500: 153296513
205MECP2NM_ 004992.3(MECP2): c.76delC (p.Leu26Serfs)deletionPathogenicrs61754426GRCh37Chr X, 153297959: 153297959
206MECP2NM_ 004992.3(MECP2): c.784C> T (p.Gln262Ter)SNVPathogenicrs267608525GRCh37Chr X, 153296495: 153296495
207MECP2NM_ 004992.3(MECP2): c.792_ 793delTC (p.Pro265Glnfs)deletionPathogenicrs267608526GRCh37Chr X, 153296486: 153296487
208MECP2NM_ 004992.3(MECP2): c.799A> T (p.Lys267Ter)SNVPathogenicrs61750238GRCh37Chr X, 153296480: 153296480
209MECP2NM_ 004992.3(MECP2): c.808delC (p.Arg270Glufs)deletionPathogenicrs62931162GRCh37Chr X, 153296471: 153296471
210MECP2NM_ 004992.3(MECP2): c.810_ 813delAAAG (p.Lys271Argfs)deletionPathogenicrs267608529GRCh37Chr X, 153296466: 153296469
211MECP2NM_ 001110792.1(MECP2): c.848_ 854delAGCCGGG (p.Lys283Argfs)deletionPathogenicrs61750242GRCh37Chr X, 153296461: 153296467
212MECP2NM_ 004992.3(MECP2): c.816_ 832del17 (p.Gly273Argfs)deletionPathogenicrs63749012GRCh37Chr X, 153296447: 153296463
213MECP2NM_ 004992.3(MECP2): c.830delC (p.Ala277Glufs)deletionPathogenicrs61750247GRCh37Chr X, 153296449: 153296449
214MECP2NM_ 004992.3(MECP2): c.856_ 859delAAAG (p.Lys286Profs)deletionPathogenicrs61750256GRCh37Chr X, 153296420: 153296423
215MECP2NM_ 004992.3(MECP2): c.865A> T (p.Lys289Ter)SNVPathogenicrs61750259GRCh37Chr X, 153296414: 153296414
216MECP2NM_ 004992.3(MECP2): c.865_ 866delAA (p.Lys289Glyfs)deletionPathogenicrs267608536GRCh37Chr X, 153296413: 153296414
217MECP2NM_ 004992.3(MECP2): c.869dupA (p.Ser291Valfs)duplicationPathogenicrs267608538GRCh37Chr X, 153296410: 153296410
218MECP2NM_ 004992.3(MECP2): c.874_ 875insA (p.Ser292Tyrfs)insertionPathogenicrs61751361GRCh37Chr X, 153296404: 153296405
219MECP2NM_ 001110792.1(MECP2): c.916_ 920delCGATC (p.Arg306Cysfs)deletionPathogenicrs61751364GRCh37Chr X, 153296395: 153296399
220MECP2NM_ 004992.3(MECP2): c.881_ 902del22 (p.Arg294Profs)deletionPathogenicrs267608540GRCh37Chr X, 153296377: 153296398
221MECP2NM_ 004992.3(MECP2): c.883delT (p.Ser295Leufs)deletionPathogenicrs267608541GRCh37Chr X, 153296396: 153296396
222MECP2NM_ 004992.3(MECP2): c.889C> T (p.Gln297Ter)SNVPathogenicrs61751367GRCh37Chr X, 153296390: 153296390
223MECP2NM_ 001110792.1(MECP2): c.934_ 937delGTAC (p.Val312Serfs)deletionPathogenicrs62701461GRCh37Chr X, 153296378: 153296381
224MECP2NM_ 001110792.1(MECP2): c.934_ 940delGTACTCC (p.Val312Profs)deletionPathogenicrs267608543GRCh37Chr X, 153296375: 153296381
225MECP2NM_ 004992.3(MECP2): c.898delG (p.Val300Tyrfs)deletionPathogenicrs267608544GRCh37Chr X, 153296381: 153296381
226MECP2NM_ 004992.3(MECP2): c.905C> G (p.Pro302Arg)SNVPathogenicrs61749723GRCh37Chr X, 153296374: 153296374
227MECP2NM_ 004992.3(MECP2): c.906delC (p.Ile303Serfs)deletionPathogenicrs267608548GRCh37Chr X, 153296373: 153296373
228MECP2NM_ 004992.3(MECP2): c.917G> A (p.Arg306His)SNVPathogenic/ Likely pathogenicrs61751443GRCh37Chr X, 153296362: 153296362
229MECP2NM_ 004992.3(MECP2): c.91delG (p.Val31Terfs)deletionPathogenicrs61754427GRCh37Chr X, 153297944: 153297944
230MECP2NM_ 001110792.1(MECP2): c.1025_ 10320delAGAAGAinsGCATCTTCTCCTCTTT (p.?)indelPathogenicrs672601302GRCh37Chr X, 153296285: 153296290
231MECP2NM_ 004992.3(MECP2): c.994_ 998delAGCGG (p.Ser332Glufs)deletionPathogenicrs267608558GRCh37Chr X, 153296281: 153296285
232CDKL5NM_ 003159.2(CDKL5): c.1311dupC (p.Ser438Glnfs)duplicationPathogenicrs267608623GRCh37Chr X, 18622355: 18622355
233CDKL5NM_ 003159.2(CDKL5): c.163_ 166delGAAA (p.Glu55Argfs)deletionPathogenicrs267608433GRCh37Chr X, 18593491: 18593494
234CDKL5NM_ 003159.2(CDKL5): c.1648C> T (p.Arg550Ter)SNVPathogenicrs267608643GRCh37Chr X, 18622692: 18622692
235CDKL5NM_ 003159.2(CDKL5): c.1675C> T (p.Arg559Ter)SNVPathogenicrs267608395GRCh37Chr X, 18622719: 18622719
236CDKL5NM_ 003159.2(CDKL5): c.1708G> T (p.Glu570Ter)SNVPathogenicrs267608644GRCh37Chr X, 18622752: 18622752
237CDKL5NM_ 003159.2(CDKL5): c.175C> T (p.Arg59Ter)SNVPathogenicrs62653623GRCh37Chr X, 18593503: 18593503
238CDKL5NM_ 003159.2(CDKL5): c.183delT (p.Met63Cysfs)deletionPathogenicrs62643608GRCh37Chr X, 18593511: 18593511
239CDKL5NM_ 003159.2(CDKL5): c.1892_ 1893dupTA (p.Gly632Terfs)duplicationPathogenicrs267608646GRCh37Chr X, 18622936: 18622937
240CDKL5NM_ 003159.2(CDKL5): c.199C> T (p.Leu67Phe)SNVPathogenic/ Likely pathogenicrs267608437GRCh37Chr X, 18593527: 18593527
241CDKL5NM_ 003159.2(CDKL5): c.2045_ 2046delAGins18 (p.?)indelPathogenicrs672601303GRCh37Chr X, 18627031: 18627032
242CDKL5NM_ 003159.2(CDKL5): c.215T> A (p.Ile72Asn)SNVPathogenicrs62641235GRCh37Chr X, 18593543: 18593543
243CDKL5NM_ 003159.2(CDKL5): c.2343delG (p.Arg781Serfs)deletionPathogenicrs62643614GRCh37Chr X, 18638053: 18638053
244CDKL5NM_ 003159.2(CDKL5): c.2635_ 2636delCT (p.Leu879Glufs)deletionPathogenicrs61753251GRCh38Chr X, 18628509: 18628510
245CDKL5NM_ 003159.2(CDKL5): c.352C> T (p.Gln118Ter)SNVPathogenicrs267608453GRCh37Chr X, 18598037: 18598037
246CDKL5NM_ 003159.2(CDKL5): c.380A> G (p.His127Arg)SNVPathogenic/ Likely pathogenicrs267608468GRCh37Chr X, 18598065: 18598065
247CDKL5NM_ 003159.2(CDKL5): c.532C> T (p.Arg178Trp)SNVPathogenic/ Likely pathogenicrs267608493GRCh37Chr X, 18602451: 18602451
248CDKL5NM_ 003159.2(CDKL5): c.607G> T (p.Glu203Ter)SNVPathogenicrs267608505GRCh37Chr X, 18606126: 18606126
249CDKL5NM_ 003159.2(CDKL5): c.838_ 847delTTGGACCCAG (p.Asp281Thrfs)deletionPathogenicrs61750250GRCh37Chr X, 18616594: 18616603
250MECP2NM_ 004992.3(MECP2): c.26+2T> ASNVPathogenicrs267608409GRCh38Chr X, 154092182: 154092182
251MECP2NM_ 004992.3(MECP2): c.27-2A> GSNVPathogenicrs267608412GRCh38Chr X, 154032559: 154032559
252MECP2NM_ 004992.3(MECP2): c.27-6C> GSNVPathogenicrs267608411GRCh38Chr X, 154032563: 154032563
253MECP2NM_ 004992.3(MECP2): c.377+1G> ASNVPathogenicrs267608463GRCh37Chr X, 153297657: 153297657
254MECP2NM_ 004992.3(MECP2): c.377+1G> TSNVPathogenicrs267608463GRCh38Chr X, 154032206: 154032206
255MECP2NM_ 004992.3(MECP2): c.378-2A> CSNVPathogenicrs267608464GRCh38Chr X, 154031452: 154031452
256MECP2NM_ 004992.3(MECP2): c.378-2A> GSNVPathogenicrs267608464GRCh38Chr X, 154031452: 154031452
257MECP2NM_ 004992.3(MECP2): c.378-2A> TSNVPathogenicrs267608464GRCh37Chr X, 153296903: 153296903
258MECP2NM_ 004992.3(MECP2): c.378-3C> GSNVPathogenicrs267608465GRCh37Chr X, 153296904: 153296904
259CDKL5NM_ 003159.2(CDKL5): c.145+2T> CSNVPathogenicrs267608430GRCh37Chr X, 18582644: 18582644
260CDKL5NM_ 003159.2(CDKL5): c.2047-1G> ASNVPathogenicrs267608650GRCh38Chr X, 18609464: 18609464
261CDKL5NM_ 003159.2(CDKL5): c.2376+5G> ASNVLikely pathogenicrs267608657GRCh38Chr X, 18619971: 18619971
262CDKL5NM_ 003159.2(CDKL5): c.463+1G> ASNVPathogenicrs267608479GRCh37Chr X, 18600071: 18600071
263MECP2NM_ 004992.3(MECP2): c.1116_ 1201del86 (p.His372Glnfs)deletionPathogenicGRCh38Chr X, 154030627: 154030712
264CDKL5NM_ 003159.2(CDKL5): c.211A> G (p.Asn71Asp)SNVPathogenic/ Likely pathogenicrs587783072GRCh38Chr X, 18575419: 18575419
265MECP2NM_ 001110792.1(MECP2): c.520A> G (p.Arg174Gly)SNVPathogenicrs727505391GRCh37Chr X, 153296795: 153296795
266MECP2NM_ 004992.3(MECP2): c.573delC (p.Ser194Alafs)deletionLikely pathogenicrs786204307GRCh37Chr X, 153296706: 153296706
267MECP2NM_ 001110792.1(MECP2): c.738_ 752delTGAGGGGGGTGGGGC (p.Glu247_ Ala251del)deletionLikely pathogenicrs786204309GRCh38Chr X, 154031112: 154031126
268MECP2NM_ 001110792.1(MECP2): c.790_ 818del29 (p.Gly264Serfs)deletionLikely pathogenicrs786204310GRCh38Chr X, 154031046: 154031074
269MECP2NM_ 001110792.1(MECP2): c.853_ 871dup19 (p.Ala291Glyfs)duplicationLikely pathogenicrs786204311GRCh38Chr X, 154030993: 154031011
270MECP2NM_ 001110792.1(MECP2): c.1289_ 1492del204 (p.Met430_ Val497del)deletionPathogenicGRCh38Chr X, 154030372: 154030575
271MECP2NM_ 004992.3(MECP2): c.1410_ 1411delCA (p.Asn470Lysfs)deletionLikely pathogenicrs786204316GRCh38Chr X, 154030417: 154030418
272MECP2NM_ 001110792.1(MECP2): c.863_ *44del679deletionLikely pathogenicGRCh38Chr X, 154030323: 154031001
273CDKL5NM_ 003159.2(CDKL5): c.656A> C (p.Gln219Pro)SNVLikely pathogenicrs786204963GRCh38Chr X, 18588055: 18588055
274CDKL5NM_ 003159.2(CDKL5): c.1090G> T (p.Glu364Ter)SNVPathogenicrs786204966GRCh38Chr X, 18604014: 18604014
275CDKL5NM_ 003159.2(CDKL5): c.1341delC (p.Phe447Leufs)deletionPathogenicrs786204968GRCh37Chr X, 18622385: 18622385
276CDKL5NM_ 003159.2(CDKL5): c.1375C> T (p.Gln459Ter)SNVPathogenicrs786204969GRCh38Chr X, 18604299: 18604299
277CDKL5NM_ 003159.2(CDKL5): c.1417dupA (p.Ile473Asnfs)duplicationPathogenicrs786204970GRCh38Chr X, 18604341: 18604341
278CDKL5NM_ 003159.2(CDKL5): c.1550delT (p.Phe517Serfs)deletionPathogenicrs786204972GRCh38Chr X, 18604474: 18604474
279CDKL5NM_ 003159.2(CDKL5): c.-162-?_ 99+?deldeletionPathogenic
280CDKL5NM_ 003159.2(CDKL5): c.1854delC (p.Asp618Glufs)deletionPathogenicrs786204975GRCh37Chr X, 18622898: 18622898
281CDKL5NM_ 003159.2(CDKL5): c.2046+1G> ASNVPathogenicrs786204976GRCh38Chr X, 18608913: 18608913
282CDKL5NM_ 003159.2(CDKL5): c.(?_ -253)_ -162-27968deldeletionPathogenicGRCh37Chr X, 18443725: 18497087
283CDKL5NM_ 003159.2(CDKL5): c.-253_ 64+?deldeletionPathogenicGRCh38Chr X, 18425605: 18507160
284CDKL5NM_ 003159.2(CDKL5): c.-253_ 99+?deldeletionPathogenicGRCh38Chr X, 18425605: 18510854
285CDKL5NM_ 003159.2(CDKL5): c.2704C> T (p.Gln902Ter)SNVPathogenicrs786204981GRCh37Chr X, 18646698: 18646698
286CDKL5NM_ 003159.2(CDKL5): c.283-3_ 290del11deletionPathogenicrs786204983GRCh38Chr X, 18579845: 18579855
287CDKL5NM_ 003159.2(CDKL5): c.403+1G> ASNVPathogenicrs786204984GRCh38Chr X, 18579969: 18579969
288CDKL5NM_ 003159.2(CDKL5): c.404-?_ 554+?deldeletionPathogenic
289CDKL5NM_ 003159.2(CDKL5): c.464-1G> ASNVPathogenicrs786204986GRCh38Chr X, 18584262: 18584262
290CDKL5NM_ 003159.2(CDKL5): c.510_ 511dupGT (p.Tyr171Cysfs)duplicationPathogenicrs786204988GRCh38Chr X, 18584309: 18584310
291CDKL5NM_ 003159.2(CDKL5): c.528G> T (p.Trp176Cys)SNVPathogenicrs786204989GRCh38Chr X, 18584327: 18584327
292CDKL5NM_ 003159.2(CDKL5): c.660_ 664dupTTTTA (p.Thr222Ilefs)duplicationPathogenicrs786204990GRCh38Chr X, 18588059: 18588063
293CDKL5NM_ 003159.2(CDKL5): c.942delA (p.Lys314Asnfs)deletionPathogenicrs786204992GRCh38Chr X, 18598578: 18598578
294MECP2NM_ 004992.3(MECP2): c.(?_ 1169)_ *(1_ ?)deldeletionPathogenicGRCh37Chr X, 153295817: 153296110
295MECP2NM_ 004992.3(MECP2): c.1012_ 1193del182 (p.Thr338Profs)deletionPathogenicGRCh37Chr X, 153296086: 153296267
296MECP2NM_ 004992.3(MECP2): c.1012_ 1202del191 (p.Thr338Profs)deletionPathogenicGRCh37Chr X, 153296077: 153296267
297MECP2NM_ 004992.3(MECP2): c.(?_ 1017)_ (1397_ ?)del (p.(?))deletionPathogenicGRCh37Chr X, 153295882: 153296262
298MECP2NC_ 000023.10: g.153281346_ 153296256del14911deletionPathogenicGRCh37Chr X, 153281346: 153296256
299MECP2NM_ 001110792.1(MECP2): c.1064_ 1194del131 (p.Gly355Alafs)deletionPathogenicGRCh37Chr X, 153296121: 153296251
300MECP2NM_ 004992.3(MECP2): c.1030_ 1195del166insGT (p.Arg344Valfs)indelPathogenicGRCh38Chr X, 154030633: 154030798
301MECP2NM_ 004992.3(MECP2): c.1039_ 1195del157insGT (p.Lys347Valfs)indelPathogenicGRCh38Chr X, 154030633: 154030789
302MECP2NM_ 004992.3(MECP2): c.(?_ 1044)_ (1442_ ?)del (p.(?))deletionPathogenicGRCh37Chr X, 153295837: 153296235
303MECP2NM_ 004992.3(MECP2): c.1046_ 1206del161 (p.Ser349Thrfs)deletionPathogenicGRCh37Chr X, 153296073: 153296233
304MECP2NM_ 001110792.1(MECP2): c.1084_ 1235del152 (p.Ser362Glnfs)deletionPathogenicGRCh38Chr X, 154030629: 154030780
305MECP2NM_ 004992.3(MECP2): c.1052_ 1200del149 (p.Pro351Glnfs)deletionPathogenicGRCh37Chr X, 153296079: 153296227
306MECP2NM_ 004992.3(MECP2): c.1057_ 1219del163 (p.Gly353Thrfs)deletionPathogenicGRCh37Chr X, 153296060: 153296222
307MECP2NM_ 004992.3(MECP2): c.1078_ *2524del2908deletionPathogenicGRCh38Chr X, 154027843: 154030750
308MECP2NM_ 004992.3(MECP2): c.1096_ 1201del106 (p.His366Alafs)deletionPathogenicGRCh37Chr X, 153296078: 153296183
309MECP2NM_ 004992.3(MECP2): c.1097_ *13del378deletionPathogenicGRCh37Chr X, 153295805: 153296182
310MECP2NM_ 004992.3(MECP2): c.1097_ 1203del107 (p.His366Profs)deletionPathogenicGRCh37Chr X, 153296076: 153296182
311MECP2NM_ 004992.3(MECP2): c.1101_ 1201del101 (p.His367Glnfs)deletionPathogenicGRCh37Chr X, 153296078: 153296178
312MECP2NM_ 004992.3(MECP2): c.1101_ (1396_ ?)del (p.His(368_ ?)Alafs)deletionPathogenicGRCh38Chr X, 154030432: 154030727
313MECP2NM_ 004992.3(MECP2): c.1105_ 1225del121 (p.His369Alafs)deletionPathogenicGRCh37Chr X, 153296054: 153296174
314MECP2NM_ 004992.3(MECP2): c.1115_ 1326del212 (p.His372Argfs)deletionPathogenicGRCh37Chr X, 153295953: 153296164
315MECP2NM_ 004992.3(MECP2): c.1121_ 1191del71 (p.Glu374Glyfs)deletionPathogenicGRCh37Chr X, 153296088: 153296158
316MECP2NM_ 004992.3(MECP2): c.1123_ 1202del80 (p.Ser375Profs)deletionPathogenicGRCh38Chr X, 154030626: 154030705
317MECP2NM_ 004992.3(MECP2): c.1127_ 1179del53 (p.Pro376Argfs)deletionPathogenicGRCh38Chr X, 154030649: 154030701
318MECP2NM_ 001110792.1(MECP2): c.1165_ *568delinsCCGTGGindelPathogenicGRCh37Chr X, 153295250: 153296150
319MECP2NM_ 004992.3(MECP2): c.1132_ 1202del71 (p.Ala378Profs)deletionPathogenicGRCh38Chr X, 154030626: 154030696
320MECP2NM_ 004992.3(MECP2): c.1142_ 1227del86 (p.Pro381Glnfs)deletionPathogenicGRCh37Chr X, 153296052: 153296137
321MECP2NM_ 001110792.1(MECP2): c.1188_ *29del339deletionPathogenicGRCh38Chr X, 154030338: 154030676
322MECP2NM_ 004992.3(MECP2): c.1157_ *944del1249deletionPathogenicGRCh37Chr X, 153294874: 153296122
323MECP2NM_ 004992.3(MECP2): c.1159_ 1458del300 (p.Pro387_ Ser486del)deletionPathogenicGRCh37Chr X, 153295821: 153296120
324MECP2NM_ 004992.3(MECP2): c.1163_ *39del338deletionPathogenicGRCh38Chr X, 154030328: 154030665
325MECP2NM_ 001110792.1(MECP2): c.1200_ 1220del21insCTGAGCCCCAGGACTTGAGCA (p.Pro401Ter)indelPathogenicrs786205019GRCh37Chr X, 153296095: 153296115
326MECP2NM_ 004992.3(MECP2): c.1164_ 1194del31 (p.Pro391Alafs)deletionPathogenicrs786205020GRCh38Chr X, 154030634: 154030664
327MECP2NM_ 004992.3(MECP2): c.(?_ 1169)_ (1397_ ?)del (p.(?))deletionPathogenicGRCh37Chr X, 153295882: 153296110
328MECP2NM_ 004992.3(MECP2): c.1180_ 1181insT (p.Glu394Valfs)insertionPathogenicrs786205021GRCh37Chr X, 153296098: 153296099
329MECP2NM_ 004992.3(MECP2): c.1196_ 1266del71 (p.Pro399Leufs)deletionPathogenicGRCh37Chr X, 153296013: 153296083
330MECP2NM_ 004992.3(MECP2): c.1276_ *113del299ins3indelPathogenicGRCh38Chr X, 154030254: 154030552
331MECP2NM_ 004992.3(MECP2): c.(?_ 1336)_ *(1_ ?)deldeletionPathogenicGRCh37Chr X, 153295817: 153295943
332MECP2NM_ 001110792.1(MECP2): c.1444_ 1447delAACAinsTG (p.Asn482Trpfs)indelPathogenicrs786205023GRCh38Chr X, 154030417: 154030420
333MECP2NM_ 004992.3: c.(?_ 184)_ (1065_ ?)deldeletionPathogenic
334MECP2NM_ 004992.3(MECP2): c.(?_ -226)_ (*1_ ?)deldeletionPathogenic
335MECP2NM_ 004992.3(MECP2): c.(?_ -226)_ 26+?deldeletionPathogenicGRCh37Chr X, 153357642: 153363188
336MECP2NM_ 004992.3(MECP2): c.(?_ 248)_ (320_ ?)del (p.(?))deletionPathogenicGRCh37Chr X, 153297715: 153297787
337MECP2NC_ 000023.10: g.153281940_ 153332471del50532insTTTCCGACAAAGGTindelPathogenicGRCh37Chr X, 153281940: 153332471
338MECP2NM_ 004992.3: c.(?_ 27)_ (378_ 1461)deldeletionPathogenic
339MECP2NM_ 004992.3: c.(?_ 27)_ (*1_ ?)deldeletionPathogenic
340MECP2NM_ 004992.3: c.(?_ 27)_ (*8554_ ?)deldeletionPathogenic
341MECP2NM_ 004992.3: c.(?_ 27)_ (1018_ ?)deldeletionPathogenic
342MECP2NM_ 004992.3: c.(?_ 27)_ (1021_ ?)deldeletionPathogenic
343MECP2NM_ 004992.3: c.(?_ 27)_ (1029_ ?)deldeletionPathogenic
344MECP2NM_ 004992.3: c.(?_ 27)_ (1170_ ?)deldeletionPathogenic
345MECP2NM_ 004992.3: c.(?_ 27)_ (1185_ ?)deldeletionPathogenic
346MECP2NM_ 004992.3: c.(?_ 27)_ (1337_ ?)deldeletionPathogenic
347MECP2NM_ 004992.3: c.(?_ 27)_ (1397_ ?)deldeletionPathogenic
348MECP2NM_ 004992.3(MECP2): c.(?_ 27)_ (367_ ?)del (p.(?))deletionPathogenicGRCh38Chr X, 154032217: 154032557
349MECP2NM_ 004992.3: c.(?_ 27)_ (378_ ?)deldeletionPathogenic
350MECP2NM_ 004992.3(MECP2): c.27-12521_ *5072deldeletionPathogenicGRCh38Chr X, 154025295: 154045078
351MECP2NM_ 004992.3(MECP2): c.27-3928_ 1184deldeletionPathogenicGRCh38Chr X, 154030644: 154036485
352MECP2NM_ 004992.3(MECP2): c.27-4722_ *112delinsCACTTTGTGindelPathogenicGRCh38Chr X, 154030255: 154037279
353MECP2NM_ 004992.3(MECP2): c.27-4722_ *739delins43indelPathogenicGRCh38Chr X, 154029628: 154037279
354MECP2NM_ 004992.3(MECP2): c.27-5774_ 902delinsGTGCCCGGACTGATGTCAindelPathogenicGRCh37Chr X, 153296377: 153303782
355MECP2NM_ 004992.3(MECP2): c.27-6026_ 1190delinsGTindelPathogenicGRCh37Chr X, 153296089: 153304034
356MECP2NM_ 004992.3(MECP2): c.27-6215_ 1190deldeletionPathogenicGRCh38Chr X, 154030638: 154038772
357MECP2NM_ 004992.3(MECP2): c.27-96_ 1205deldeletionPathogenicGRCh38Chr X, 154030623: 154032653
358MECP2NM_ 001110792.1(MECP2): c.354_ 357dupGAAG (p.Leu120Glufs)duplicationPathogenicrs786205025GRCh38Chr X, 154032263: 154032266
359MECP2NM_ 004992.3: c.343_ 1182deldeletionPathogenic
360MECP2NM_ 004992.3(MECP2): c.(?_ 378)_ *(1_ ?)deldeletionPathogenicGRCh37Chr X, 153295817: 153296901
361MECP2NM_ 004992.3(MECP2): c.(?_ 378)_ (1170_ ?)del (p.(?))deletionPathogenicGRCh38Chr X, 154030658: 154031450
362MECP2NM_ 004992.3(MECP2): c.(?_ 378)_ (1185_ ?)del (p.(?))deletionPathogenicGRCh37Chr X, 153296094: 153296901
363MECP2NM_ 004992.3(MECP2): c.(?_ 378)_ (1337_ ?)del (p.(?))deletionPathogenicGRCh37Chr X, 153295942: 153296901
364MECP2NM_ 001110792.1(MECP2): c.414_ 1497del1084 (p.Pro139Phefs)deletionPathogenicGRCh37Chr X, 153295818: 153296901
365MECP2NM_ 004992.3(MECP2): c.382_ 1189del808 (p.Gln128Argfs)deletionPathogenicGRCh37Chr X, 153296090: 153296897
366MECP2NM_ 001110792.1(MECP2): c.445_ 1194del750 (p.Glu149_ Leu398del)deletionPathogenicGRCh38Chr X, 154030670: 154031419
367MECP2NM_ 004992.3(MECP2): c.481_ 987del507ins8indelPathogenicGRCh37Chr X, 153296292: 153296798
368MECP2NM_ 004992.3(MECP2): c.488_ 1189del702 (p.Gly163_ Ser396del)deletionPathogenicGRCh38Chr X, 154030639: 154031340
369MECP2NM_ 004992.3(MECP2): c.502C> A (p.Arg168=)SNVPathogenicrs61748421GRCh38Chr X, 154031326: 154031326
370MECP2NM_ 004992.3(MECP2): c.616_ 1122del507 (p.Gly206_ Glu374del)deletionPathogenicGRCh37Chr X, 153296157: 153296663
371MECP2NM_ 004992.3(MECP2): c.689_ 756del68 (p.Pro230Glnfs)deletionPathogenicGRCh37Chr X, 153296523: 153296590
372MECP2NM_ 004992.3(MECP2): c.711_ 1269del559 (p.Gly238Trpfs)deletionPathogenicGRCh37Chr X, 153296010: 153296568
373MECP2NM_ 004992.3(MECP2): c.731_ 1166del436 (p.Gln244Leufs)deletionPathogenicGRCh37Chr X, 153296113: 153296548
374MECP2NM_ 004992.3(MECP2): c.763_ 1383del621ins15 (p.?)indelPathogenicGRCh37Chr X, 153295896: 153296516
375MECP2NM_ 004992.3(MECP2): c.766A> T (p.Lys256Ter)SNVPathogenicrs786205027GRCh37Chr X, 153296513: 153296513
376MECP2NM_ 004992.3(MECP2): c.767_ 1175del409 (p.Lys256Serfs)deletionPathogenicGRCh38Chr X, 154030653: 154031061
377MECP2NM_ 004992.3(MECP2): c.785_ 818del34 (p.Gln262Argfs)deletionPathogenicrs786205028GRCh38Chr X, 154031010: 154031043
378MECP2NM_ 004992.3(MECP2): c.820_ 1153del334ins67 (p.?)indelPathogenicGRCh37Chr X, 153296126: 153296459
379MECP2NM_ 004992.3(MECP2): c.822_ 1184del363 (p.Val275_ Ser395del)deletionPathogenicGRCh37Chr X, 153296095: 153296457
380MECP2NM_ 004992.3(MECP2): c.830_ 831ins23 (p.?)insertionPathogenicrs786205029GRCh37Chr X, 153296448: 153296449
381MECP2NM_ 004992.3(MECP2): c.834_ 939del106 (p.Ala279Serfs)deletionPathogenicGRCh38Chr X, 154030889: 154030994
382MECP2NM_ 004992.3(MECP2): c.849_ 1236del388 (p.Lys284Alafs)deletionPathogenicGRCh37Chr X, 153296043: 153296430
383MECP2NM_ 004992.3(MECP2): c.851_ 1188del338 (p.Lys284Argfs)deletionPathogenicGRCh37Chr X, 153296091: 153296428
384MECP2NM_ 004992.3(MECP2): c.855_ 859delGAAAGinsAAAAAAAAGACT (p.Ala287Lysfs)indelPathogenicrs786205030GRCh38Chr X, 154030969: 154030973
385MECP2NM_ 001110792.1(MECP2): c.903_ 1259del357insA (p.Ser303Glnfs)indelPathogenicGRCh37Chr X, 153296056: 153296412
386MECP2NM_ 001110792.1(MECP2): c.905_ 916delAGTCTTCTATCCinsCACA (p.Glu302Alafs)indelPathogenicrs786205031GRCh37Chr X, 153296399: 153296410
387MECP2NM_ 001110792.1(MECP2): c.907_ 1080del174 (p.Ile305_ Ser362del)deletionPathogenicGRCh38Chr X, 154030784: 154030957
388MECP2NM_ 004992.3(MECP2): c.894_ 1095del202 (p.Glu298Aspfs)deletionPathogenicGRCh37Chr X, 153296184: 153296385
389MECP2NM_ 004992.3(MECP2): c.898_ 1099del202 (p.Val300Thrfs)deletionPathogenicGRCh38Chr X, 154030729: 154030930
390MECP2NM_ 001110792.1(MECP2): c.942_ 1174del233insAC (p.Ile315_ Val392delinsLeu)indelPathogenicGRCh37Chr X, 153296141: 153296373
391MECP2NM_ 004992.3(MECP2): c.914_ 1172del259 (p.Lys305Metfs)deletionPathogenicGRCh38Chr X, 154030656: 154030914
392MECP2NM_ 004992.3(MECP2): c.943_ 1140del198ins6indelPathogenicGRCh38Chr X, 154030688: 154030885
393MECP2NM_ 001110792.1(MECP2): c.998_ 1303del306insG (p.Lys333Serfs)indelPathogenicGRCh37Chr X, 153296012: 153296317
394MECP2NM_ 004992.3(MECP2): c.-98-?_ 377+?deldeletionPathogenic
395MECP2NM_ 004992.3(MECP2): c.994_ 1346del353 (p.Ser332Valfs)deletionPathogenicGRCh38Chr X, 154030482: 154030834
396MECP2NM_ 001110792.1(MECP2): c.23_ 27dupCGCCG (p.Ser10Argfs)duplicationPathogenicrs786205038GRCh38Chr X, 154097639: 154097643
397MECP2NM_ 001110792.1(MECP2): c.30delCinsGA (p.Ser10Argfs)indelPathogenicrs786205040GRCh38Chr X, 154097636: 154097636
398MECP2NM_ 001110792.1(MECP2): c.47_ 57delGCGAGGAGGAG (p.Gly16Glufs)deletionPathogenicrs786205042GRCh38Chr X, 154097609: 154097619
399MECP2NM_ 001110792.1(MECP2): c.48_ 55delCGAGGAGG (p.Glu18Thrfs)deletionPathogenicrs786205043GRCh37Chr X, 153363068: 153363075
400MECP2NM_ 001110792.1(MECP2): c.48_ 55dupCGAGGAGG (p.Glu19Alafs)duplicationPathogenicrs786205044GRCh37Chr X, 153363068: 153363075
401MECP2NM_ 001110792.1(MECP2): c.48C> T (p.Gly16=)SNVPathogenicrs786205045GRCh38Chr X, 154097618: 154097618
402MECP2NM_ 001110792.1(MECP2): c.59_ 60delGA (p.Arg20Thrfs)deletionPathogenicrs786205047GRCh38Chr X, 154097606: 154097607
403MECP2NM_ 001110792.1(MECP2): c.62+2_ 62+3delTGdeletionPathogenicrs786205049GRCh37Chr X, 153363058: 153363059
404MECP2NM_ 001110792.1(MECP2): c.(?_ 1)_ (62_ ?)del (p.(?))deletionPathogenicGRCh37Chr X, 153363061: 153363122
405MECP2NM_ 004992.3(MECP2): c.1A> T (p.Met1Leu)SNVPathogenicrs786205892GRCh37Chr X, 153357667: 153357667
406MECP2NM_ 004992.3(MECP2)indelPathogenicGRCh37Chr X, 153295996: 153296116
407MECP2NM_ 004992.3(MECP2): c.1146_ *452del768deletionPathogenicGRCh37Chr X, 153295366: 153296133
408MECP2NM_ 004992.3(MECP2): c.390delA (p.Ala131Profs)deletionPathogenicrs786205895GRCh37Chr X, 153296889: 153296889
409MECP2NM_ 001110792.1(MECP2): c.1202dupC (p.Pro402Serfs)duplicationPathogenicrs797044733GRCh37Chr X, 153296113: 153296113
410MECP2NM_ 001110792.1(MECP2): c.1043_ 1230del188 (p.Leu348Profs)deletionPathogenicGRCh37Chr X, 153296085: 153296272
411MECP2NM_ 001110792.1(MECP2): c.1193_ *116del421deletionPathogenicGRCh37Chr X, 153295702: 153296122
412MECP2NM_ 001110792.1(MECP2): c.30_ 31delCG (p.Ser10Argfs)deletionPathogenicrs797045693GRCh38Chr X, 154097635: 154097636
413MECP2NM_ 001110792.1(MECP2): c.83_ 93delAGGACCTCCAG (p.Gln28Argfs)deletionPathogenicrs797045694GRCh37Chr X, 153297978: 153297988
414MECP2NM_ 001110792.1(MECP2): c.701_ 707dupTCAAGAT (p.Met236Ilefs)duplicationPathogenicrs797045695GRCh37Chr X, 153296608: 153296614
415MECP2NM_ 001110792.1(MECP2): c.934_ 1202del269 (p.Val312Serfs)deletionPathogenicGRCh37Chr X, 153296113: 153296381
416MECP2NM_ 001110792.1: c.384_ 1164deldeletionPathogenic
417MECP2NM_ 004992.3(MECP2): c.650C> T (p.Pro217Leu)SNVLikely pathogenicrs878853312GRCh37Chr X, 153296629: 153296629
418MECP2NM_ 004992.3(MECP2): c.574A> T (p.Lys192Ter)SNVPathogenic/ Likely pathogenicrs193922679GRCh37Chr X, 153296705: 153296705
419MECP2NM_ 004992.3(MECP2): c.332G> A (p.Arg111Lys)SNVLikely pathogenicrs1057518718GRCh38Chr X, 154032252: 154032252
420MECP2NM_ 004992.3(MECP2): c.1089_ 1129del41 (p.Lys364Glyfs)deletionPathogenicGRCh37Chr X, 153296150: 153296190
421MECP2NM_ 004992.3(MECP2): c.1024_ 1025insAG (p.Pro342Glnfs)insertionPathogenicrs1060499620GRCh37Chr X, 153296254: 153296255
422MECP2NM_ 004992.3(MECP2): c.678delT (p.Gln227Lysfs)deletionPathogenicrs1060499621GRCh37Chr X, 153296601: 153296601
423MECP2NM_ 004992.3(MECP2): c.1094_ 1138del45 (p.Glu365_ Pro379del)deletionLikely pathogenicGRCh37Chr X, 153296141: 153296185
424NW_ 003871103.3: g.1464085_ 1464649del565deletionPathogenicGRCh37Chr X, 1464085: 1464649
425MECP2NM_ 004992.3(MECP2): c.468C> A (p.Asp156Glu)SNVLikely pathogenicrs61748408GRCh37Chr X, 153296811: 153296811
426MECP2NM_ 001110792.1(MECP2): c.41_ 57dup17 (p.Arg20Glufs)duplicationPathogenicGRCh37Chr X, 153363066: 153363082
427MECP2NM_ 001110792.1(MECP2): c.1194_ *3444deldeletionPathogenicGRCh38Chr X, 154026923: 154030670
428MECP2NC_ 000023.10: g.(?_ 153287264)_ (153363188_ ?)dupduplicationPathogenicGRCh37Chr X, 153287264: 153363188
429MECP2NM_ 004992.3(MECP2): c.750_ 774dup (p.Ala259Profs)duplicationPathogenicGRCh37Chr X, 153296505: 153296529
430MECP2NM_ 004992.3(MECP2): c.468C> G (p.Asp156Glu)SNVPathogenicrs61748408GRCh37Chr X, 153296811: 153296811
431MECP2NM_ 004992.3(MECP2): c.611C> G (p.Ser204Ter)SNVPathogenicrs61749724GRCh37Chr X, 153296668: 153296668
432MECP2NM_ 004992.3(MECP2): c.730C> T (p.Gln244Ter)SNVPathogenicrs61749747GRCh37Chr X, 153296549: 153296549
433MECP2NM_ 004992.3(MECP2): c.806delG (p.Gly269Alafs)deletionPathogenicrs61750241GRCh37Chr X, 153296473: 153296473

Copy number variations for Rett Syndrome from CNVD:

6 (show top 50)    (show all 64)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
12247211669890617124554Copy numberCROCCRett syndrome
22247311669890617124554Copy numberMSTP9Rett syndrome
32247411669890617124554Duplication or delet ionESPNPRett syndrome
4256211192100000197500000Copy numberCFHR1Rett syndrome
5256221192100000197500000Copy numberCFHR3Rett syndrome
6285921223731557223870819DuplicationENAHRett syndrome
733645146852126246794522Duplication or delet ionOR2T34Rett syndrome
843286104610000050100000Copy numberGPRIN2Rett syndrome
943406104639616346568496Copy numberPPYR1Rett syndrome
1043589104701759847161232DuplicationRett syndrome
118255710105781035105835628Copy numberCOL17A1Rett syndrome
12825586105717459105777332DeletionSLKRett syndrome
1382938141862438319484013Copy numberOR4K1Rett syndrome
1482939141862438319484013Copy numberOR4K2Rett syndrome
1582940141862438319484013Copy numberOR4K5Rett syndrome
1682941141862438319484013Copy numberOR4M1Rett syndrome
1782942141862438319484013Copy numberOR4N2Rett syndrome
1882943141862438319484013Copy numberOR4Q3Rett syndrome
1982944141862438319484013Deletion or duplicat ionOR11H13PRett syndrome
2089640151881000419537035DeletionRett syndrome
2191690153252324132572315DeletionRett syndrome
2299799162873229528952218Copy numberATP2A1Rett syndrome
2399800162873229528952218Copy numberCD19Rett syndrome
2499801162873229528952218Copy numberLATRett syndrome
2599802162873229528952218Copy numberNFAC2IPRett syndrome
2699803162873229528952218Copy numberRABEP2Rett syndrome
2799804162873229528952218Copy numberSH2B1Rett syndrome
2899805162873229528952218Copy numberSPNS1Rett syndrome
2999806162873229528952218Copy numberTUFMRett syndrome
3099807162873229528952218DuplicationATXN2LRett syndrome
31101278163439954334539890DuplicationRett syndrome
32112972174154422441706870DuplicationKIAA1267Rett syndrome
331441802242514593242655973DeletionRett syndrome
34144868230609753460506Copy numberTTC15Rett syndrome
35144869230609753460506DeletionTSSC1Rett syndrome
361495411246822753246823692DeletionOR2T10Rett syndrome
37162851222268199522712211DuplicationGSTT1Rett syndrome
38165049224123773141287060Copy numberSERHL2Rett syndrome
39165050224123773141287060DuplicationSERHLRett syndrome
401669203110116098110397433Copy numberC3orf66Rett syndrome
411669213110116098110397433Copy numberMORC1Rett syndrome
421669223110116098110397433DuplicationGUCA1CRett syndrome
431712083163997228164101776DeletionRett syndrome
441738333196905767196942158DuplicationMUC20Rett syndrome
4518884946905773569165814Duplication or delet ionUGT2B17Rett syndrome
462020385763944848744DuplicationZDHHC11Rett syndrome
472083656168114265168324002Copy numberC6orf54Rett syndrome
482083666168114265168324002Copy numberFRMD1Rett syndrome
492083676168114265168324002Copy numberKIF25Rett syndrome
502083686168114265168324002DuplicationMLLT4Rett syndrome

Expression for genes affiliated with Rett Syndrome

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LifeMap Discovery
Genes differentially expressed in tissues of Rett Syndrome patients vs. healthy controls: 35 (show all 47)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1EPHB2EPH receptor B2Brain+6.860.000
2SLC9A3R1solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1Brain+5.980.000
3CARTPTCART prepropeptideBrain-5.940.000
4GLRA2glycine receptor, alpha 2Brain+5.440.000
5APOC4apolipoprotein C-IVBrain-5.140.039
6FLOT2flotillin 2Brain+5.090.017
7GRIN2Cglutamate receptor, ionotropic, N-methyl D-aspartate 2CBrain+5.020.012
8ACVR2Bactivin A receptor, type IIBBrain+4.940.000
9ASMTacetylserotonin O-methyltransferaseBrain+4.780.000
10DCTN5dynactin 5 (p25)Brain+4.720.000
11F2RL1coagulation factor II (thrombin) receptor-like 1Brain-4.690.004
12INHBBinhibin, beta BBrain+4.590.028
13FOLR1folate receptor 1 (adult)Brain-4.590.006
14NPRL3NPR3-like, GATOR1 complex subunitBrain+4.450.044
15CCDC106coiled-coil domain containing 106Brain-4.430.047
16S100A1S100 calcium binding protein A1Brain+4.300.045
17CCScopper chaperone for superoxide dismutaseBrain+4.290.027
18MKL1megakaryoblastic leukemia (translocation) 1Brain+4.190.012
19ASB4ankyrin repeat and SOCS box containing 4Brain+4.150.012
20CHRNB2cholinergic receptor, nicotinic, beta 2 (neuronal)Brain+4.080.049
21SOX11SRY (sex determining region Y)-box 11Brain+3.980.000
22KIFC3kinesin family member C3Brain+3.910.017
23APBA3amyloid beta (A4) precursor protein-binding, family A, member 3Brain-3.870.012
24CCHCR1coiled-coil alpha-helical rod protein 1Brain+3.830.026
25ITGA9integrin, alpha 9Brain+3.820.036
26MYL5myosin, light chain 5, regulatoryBrain+3.740.000
27KCNMA1potassium channel, calcium activated large conductance subfamily M alpha, member 1Brain+3.690.028
28SFTPBsurfactant protein BBrain-3.480.003
29XPNPEP1X-prolyl aminopeptidase (aminopeptidase P) 1, solubleBrain+3.480.044
30HNRNPFheterogeneous nuclear ribonucleoprotein FBrain+3.470.010
31PPP1R3Cprotein phosphatase 1, regulatory subunit 3CBrain+3.450.008
32TBX1T-box 1Brain+3.410.008
33MYCLv-myc avian myelocytomatosis viral oncogene lung carcinoma derived homologBrain+3.390.007
34TRADDTNFRSF1A-associated via death domainBrain+3.360.010
35NFATC1nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1Brain-3.330.019
36PANX1pannexin 1Brain+3.300.019
37ENOSF1enolase superfamily member 1Brain+3.290.024
38MT4metallothionein 4Brain-3.200.001
39FEZ2fasciculation and elongation protein zeta 2 (zygin II)Brain+3.170.001
40IFNA5interferon, alpha 5Brain+3.160.006
41CEP57centrosomal protein 57kDaBrain+3.130.029
42ZG16zymogen granule protein 16Brain+3.120.045
43ADAM10ADAM metallopeptidase domain 10Brain+3.090.039
44ATP7BATPase, Cu++ transporting, beta polypeptideBrain+3.090.046
45ESR1estrogen receptor 1Brain+3.070.017
46ZKSCAN8zinc finger with KRAB and SCAN domains 8Brain-3.070.006
47EGFRepidermal growth factor receptorBrain+3.030.030

Search GEO for disease gene expression data for Rett Syndrome.

Pathways for genes affiliated with Rett Syndrome

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GO Terms for genes affiliated with Rett Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1chromatinGO:000078510.1HDAC1, JMJD1C, MBD4

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1anatomical structure formation involved in morphogenesisGO:004864610.9DLX5, DLX6
2head developmentGO:006032210.9DLX5, DLX6
3negative regulation of myotube differentiationGO:001083210.9BDNF, HDAC1
4inner ear morphogenesisGO:004247210.8DLX5, DLX6, FOXG1
5axonogenesisGO:000740910.7DLX5, NTNG1, NTNG2
6neurotransmitter biosynthetic processGO:004213610.2CHAT, TH
7nervous system developmentGO:00073999.8BDNF, DLX5, DLX6, GPM6B, NTNG1, NTNG2

Sources for Rett Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet