RTS
MCID: RTT002
MIFTS: 75

Rett Syndrome (RTS) malady

Neuronal category

Summaries for Rett Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

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MedlinePlus:34 Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. it's related to autism. 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

MalaCards: Rett Syndrome, also known as rett's disorder, is related to mental retardation and adenocarcinoma, and has symptoms including cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy, hypertonia/spasticity/rigidity/stiffness and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with Rett Syndrome is MECP2 (methyl CpG binding protein 2 (Rett syndrome)), and among its related pathways are Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) and NGF-independant TRKA activation. The compounds acetyl-l-carnitine and estrogen have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and lung, and related mouse phenotypes are taste/olfaction and integument.

Disease Ontology:8 A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused by a mutation on the mecp2 gene on the x chromosome. infants with rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities.

NIH Rare Diseases:43 Rett syndrome is a childhood disorder characterized by normal early development followed by loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, abnormal walk (gait), seizures, and mental retardation. it affects females almost exclusively. last updated: 12/8/2011

NINDS:44

Genetics Home Reference:21 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.

Wikipedia:64 Rett syndrome, originally termed as cerebroatrophic hyperammonemia, is a neurodevelopmental disorder of... more...

Description from OMIM:47 312750,613454

Aliases & Classifications for Rett Syndrome

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
rett syndrome:
Inheritance: X-linked dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Adult


Aliases & Descriptions:

rett syndrome 8 9 64 43 21 44 47 10 45 49 34 61
rett's disorder 8 22 21
autism-dementia-ataxia-loss of purposeful hand use syndrome 64 21
cerebroatrophic hyperammonemia 8 64
rtt 64 21
rts 64 21
autism, dementia, ataxia, and loss of purposeful hand use 43
rett's syndrome 21
rett disorder 21


External Ids:

Disease Ontology8 DOID:1206
NCIt40 C75488
MESH via Orphanet36 D015518
SNOMED-CT57 68618008, 192583003
ICD10 via Orphanet26 F84.2
SNOMED-CT via Orphanet58 68618008
UMLS via Orphanet62 C0035372
ICD1025 F84.2

Related Diseases for Rett Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Rett Syndrome family:

rett syndrome, congenital variant

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

(show top 50)    (show all 294)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation30.6BDNF, OTC, TH, CDKL5, NGF, NTRK1
2adenocarcinoma30.5DNMT1, NTRK1, MECP2, BDNF
3down syndrome30.3CHAT, MECP2
4autistic disorder30.2BDNF, UBE3A, GABRB3, MECP2, DLX5
5developmental disabilities30.2MECP2, UBE3A, BDNF
6attention deficit hyperactivity disorder29.9BDNF
7angelman syndrome29.9UBE3A, MBD4, GABRB3, MECP2
8brain disease29.9MBD4, MECP2, CHAT, CDKL5, TH, OTC
9microcephaly29.9UBE3A, FOXG1, MECP2, CDKL5
10atopic dermatitis29.9NGF
11sudden infant death syndrome29.7CHAT, TH
12n syndrome11.0
13atypical rett syndrome10.7
14classic rett syndrome10.7
15rett syndrome, congenital variant10.6
16acute leukemia10.6
17micro syndrome10.6
18foxg1 syndrome10.5
19rett syndrome, preserved speech variant10.5
20char syndrome10.5
21colorectal cancer10.5
22hepatitis d10.4
23bone marrow cancer10.4
24autism spectrum disorder10.4
25null syndrome10.4
26acute myeloid leukemia10.4
27squamous cell carcinoma10.4
28rothmund-thomson syndrome10.3
29acute promyelocytic leukemia10.3
30epileptic encephalopathy, early infantile, 210.3
31t-cell leukemia10.3
32newcastle disease10.3
33hepatitis c10.3
34atypical teratoid rhabdoid tumor10.3
35hepatitis c virus10.3
36rett syndrome and variant rett syndrome multi-gene panels10.3
37chikungunya10.3
38adult syndrome10.2
39mecp2 duplication syndrome10.2
40mecp2-related disorders10.2
41young syndrome10.2
42hypoxia10.2
43encephalopathy, neonatal severe10.2
44rift valley fever10.2
45bronchitis10.2
46chronic myeloid leukemia10.2
47hepatitis a10.2
48acute myocardial infarction10.2
49synovial sarcoma10.2
50rhabdoid tumor10.2

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



Diseases related to rett syndrome

Clinical Features for Rett Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

312750,613454

Clinical synopsis from OMIM:

312750

Symptoms:

49 (show all 18)
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • psychic/psychomotor regression/dementia/intellectual decline
  • long/large ear
  • psychic/behavioural troubles
  • restricted joint mobility/joint stiffness/ankylosis
  • short stature/dwarfism/nanism
  • microcephaly
  • movement disorder
  • metacarpal anomalies/archibald's sign
  • thin/hypoplastic/hyperconvex fingernails
  • x-linked dominant inheritance
  • antihelix anomaly
  • clinodactyly of fifth finger

Drugs & Therapeutics for Rett Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Rett Syndrome

Drug clinical trials:

Search ClinicalTrials for Rett Syndrome

Search NIH Clinical Center for Rett Syndrome

Search CenterWatch for Rett Syndrome

Genetic Tests for Rett Syndrome

Sources:
22GTR
See all sources

Genetic tests related to Rett Syndrome:

id Genetic test Affiliating Genes
1 Rett's Disorder22

Anatomical Context for Rett Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Rett Syndrome:

33
Spinal cord, Brain, Lung, Bone marrow, Cortex, Placenta, T cells, Fetal brain, Amygdala, Cardiac myocytes, Fetal lung, Adrenal cortex

Animal Models for Rett Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Rett Syndrome

Sources:
51PubMed
See all sources

Articles related to Rett Syndrome:

(show top 50)    (show all 702)
idTitleAuthorsYear
1
Severe Respiratory Dysrhythmia in Rett Syndrome Treated With Topiramate. (24309241)
2013
2
Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients. (23828526)
2013
3
Treating hypoxia in a feeble breather with Rett syndrome. (22617859)
2013
4
Cholesterol key in Rett syndrome. (23965551)
2013
5
Peculiar breathing in Rett syndrome: Anesthesiologist's nightmare. (23878469)
2013
6
Health-related quality of life and depression in Rett syndrome caregivers. (24266312)
2013
7
Caring for a child with severe intellectual disability in China: the example of Rett syndrome. (22992162)
2013
8
Changing the perspective on early development of Rett syndrome. (23400005)
2013
9
Primary care of a child with Rett syndrome. (24170323)
2013
10
Neurodevelopmental disorders: Transplantation therapy in a mouse model of Rett syndrome. (22487748)
2012
11
Clinical variability in early speech-language development in females with Rett syndrome. (22590721)
2012
12
Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome. (22699249)
2012
13
Early intervention with psychostimulants or antidepressants to increase methyl-CpG-binding protein 2 (MeCP2) expressions: a potential therapy for Rett syndrome. (22207122)
2012
14
Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations. (21695138)
2011
15
Epilepsy treatment in Rett syndrome. (21636780)
2011
16
Trends in the diagnosis of Rett syndrome in Australia. (21587099)
2011
17
Complexities of Rett syndrome and MeCP2. (21632916)
2011
18
Ocular MECP2 protein expression in patients with and without Rett syndrome. (20682201)
2010
19
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. (19362436)
2010
20
Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain. (20420693)
2010
21
Trihexyphenidyl for acute life-threatening episodes due to a dystonic movement disorder in Rett syndrome. (20063434)
2010
22
The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis. (20504995)
2010
23
Synaptic determinants of rett syndrome. (21423514)
2010
24
CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling. (20861382)
2010
25
Genome-wide analysis reveals methyl-CpG-binding protein 2-dependent regulation of microRNAs in a mouse model of Rett syndrome. (20921386)
2010
26
MeCP2-mediated transcription repression in the basolateral amygdala may underlie heightened anxiety in a mouse model of Rett syndrome. (19339616)
2009
27
MECP2 mutations in Malaysian Rett syndrome patients. (19495527)
2009
28
Rett syndrome: what do we know for sure? (19238181)
2009
29
Bone ultrasonography at phalanxes in patients with Rett syndrome: a 3-year longitudinal study. (18242156)
2008
30
Effects of postnatal dietary choline supplementation on motor regional brain volume and growth factor expression in a mouse model of Rett syndrome. (18778693)
2008
31
Rett syndrome in adults with severe intellectual disability: exploration of behavioral characteristics. (18207372)
2008
32
Investigating genotype-phenotype relationships in Rett syndrome using an international data set. (18332345)
2008
33
Homozygosity for MECP2 gene in a girl with classical Rett syndrome. (17881312)
2007
34
Brain-derived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome. (17913925)
2007
35
Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis. (17635839)
2007
36
Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. (17108082)
2006
37
Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized. (16708070)
2006
38
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. (16077736)
2005
39
Rett syndrome: a prototypical neurodevelopmental disorder. (15070486)
2004
40
Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients]. (12449561)
2002
41
Rett syndrome: clinical manifestations in males with MECP2 mutations. (11913564)
2002
42
Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene. (11521215)
2001
43
Neuronal instability: implications for Rett's syndrome. (11738834)
2001
44
Clinical, neurophysiological and immunological correlations in classical Rett syndrome. (11738854)
2001
45
Neurons and neuronal systems involved in the pathophysiologies of Rett syndrome. (11738851)
2001
46
Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. (10852707)
2000
47
Methyl-CpG-binding protein 2 mutations in Rett syndrome. (10826991)
2000
48
Syndrome of microcephaly, mental retardation, and tracheoesophageal fistula associated with features of Rett syndrome. (10641614)
2000
49
Mutation analysis of the M6b gene in patients with Rett syndrome. (9674909)
1998
50
Rett-like syndrome in fragile X syndrome. (8588847)
1995

Genetic Variations for Rett Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Rett Syndrome:

63 (show all 39)
id Symbol AA change Variation SNP ID
1MECP2p.Arg106TrpVAR_010272rs28934907
2MECP2p.Arg133CysVAR_010273rs28934904
3MECP2p.Phe155SerVAR_010274rs28934905
4MECP2p.Thr158MetVAR_010275rs28934906
5MECP2p.Pro101ArgVAR_010276
6MECP2p.Leu124PheVAR_010277
7MECP2p.Ser134CysVAR_010278
8MECP2p.Pro152ArgVAR_010280
9MECP2p.Arg306CysVAR_010282rs28935468
10MECP2p.Leu100ValVAR_017462rs28935168
11MECP2p.Glu10GlnVAR_018180
12MECP2p.Asp97TyrVAR_018182
13MECP2p.Pro101HisVAR_018183
14MECP2p.Pro101LeuVAR_018184
15MECP2p.Pro101ThrVAR_018185
16MECP2p.Arg106GlnVAR_018186
17MECP2p.Arg111GlyVAR_018187
18MECP2p.Gln128ProVAR_018188
19MECP2p.Arg133HisVAR_018189
20MECP2p.Lys135GluVAR_018190
21MECP2p.Asp156GlyVAR_018191
22MECP2p.Lys210IleVAR_018197
23MECP2p.Pro225ArgVAR_018198
24MECP2p.Pro302AlaVAR_018206
25MECP2p.Pro302HisVAR_018207
26MECP2p.Pro302LeuVAR_018208
27MECP2p.Pro302ArgVAR_018209
28MECP2p.Lys305ArgVAR_018210
29MECP2p.Arg306HisVAR_018211
30MECP2p.Pro322AlaVAR_018212
31MECP2p.Pro322LeuVAR_018213
32MECP2p.Arg344TrpVAR_018214
33MECP2p.Asp97GluVAR_023552
34MECP2p.Leu100ArgVAR_023553
35MECP2p.Pro101SerVAR_023554
36MECP2p.Tyr120AspVAR_023555
37MECP2p.Phe155IleVAR_023556
38MECP2p.Thr158AlaVAR_023557
39MECP2p.Gly161ValVAR_023558

Expression for genes affiliated with Rett Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Rett Syndrome

Search GEO for disease gene expression data for Rett Syndrome.

Pathways for genes affiliated with Rett Syndrome

Sources:
50PharmGKB, 54Reactome, 38NCBI BioSystems Database, 12EMD Millipore, 4Cell Signaling Technology
See all sources

Compounds for genes affiliated with Rett Syndrome

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 24HMDB, 50PharmGKB, 29IUPHAR, 2BitterDB
See all sources

Compounds related to Rett Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 85)
idCompoundScoreTop Affiliating Genes
1acetyl-l-carnitine4510.8OTC
2estrogen4510.8MAP2, CHAT
3glutamate4510.8OTC, NTRK1, CHAT, MECP2
4tlqp 216010.8NGF, NTRK1, BDNF
5ana 126010.8NGF, NTRK1, BDNF
6bdnf (human)6010.8BDNF, NTRK1, NGF
7gnf 58376010.8NGF, NTRK1, BDNF
8cerebrolysin4510.8NGF, MAP2, BDNF
97,8-dihydroxyflavone45 6011.8NGF, NTRK1, BDNF
10propentofylline4510.8NGF, NTRK1, CHAT
11quisqualate45 1111.7MAP2, CHAT, BDNF
12homovanillic acid45 2411.7TH, CHAT, BDNF
135-methylcytosine45 2411.7MBD4, MECP2, DNMT1
14methamphetamine45 50 1112.7BDNF, CHAT, MAP2, TH
156-hydroxydopamine4510.7BDNF, CHAT, NGF, TH, GSR
16kainate45 2911.7BDNF, CHAT, MAP2, TH, GSR
17gnrh4510.7BDNF, NTRK1, TH, GSR
18valproate4510.7BDNF, MECP2, DNMT1, TH, OTC, GSR
19phenylbutyrate4510.7DNMT1, OTC, GSR
20dbc-amp4510.7BDNF, CHAT, MAP2, NGF
21colchicine60 45 2 29 1114.7MAP2, NTRK1, CHAT, BDNF
22cocaine45 1111.7BDNF, CHAT, MAP2, NGF, TH, GSR
23choline45 11 2412.7BDNF, CHAT, NTRK1, MAP2, NGF, TH
24nmda45 2911.6BDNF, CHAT, MAP2, NGF, TH, GSR
25azathioprine45 50 2 1113.6MECP2, MAP2, DNMT1, NGF
26lactate4510.6BDNF, CHAT, NTRK1, MAP2, TH, OTC
27catecholamine4510.6BDNF, CHAT, NTRK1, TH
28valproic acid45 50 11 2413.6BDNF, DNMT1, OTC, GSR
29selegiline45 1111.6TH, NGF, BDNF
30testosterone45 60 11 2413.6BDNF, MECP2, CHAT, NTRK1, MAP2, NGF
31dopamine45 29 11 2413.6BDNF, CHAT, NTRK1, MAP2, NGF, TH
32l-amino acid4510.6CHAT, MAP2, TH
33gaba4510.6GSR, BDNF, UBE3A, GABRB3, MECP2, CHAT
34adenylate4510.6BDNF, NTRK1, MAP2, DNMT1, NGF, TH
35aspartate4510.6BDNF, CHAT, NTRK1, TH, OTC, GSR
36creatinine4510.6BDNF, NTRK1, DNMT1, NGF, OTC, GSR
37k252a4510.6NGF, NTRK1, BDNF
38butyrate4510.6CHAT, NTRK1, DNMT1, TH, OTC
39alanine4510.5UBE3A, MECP2, CHAT, NTRK1, NGF, TH
40cyclic amp45 2411.5BDNF, CHAT, NTRK1, MAP2, NGF, TH
41cycloheximide4510.5BDNF, CHAT, NTRK1, DNMT1, NGF, DLX5
42cipa4510.5NTRK1, NGF
43norepinephrine45 11 2412.5BDNF, CHAT, MAP2, NGF, TH
44idebenone4510.5CHAT, NGF
45acetylcholine45 50 29 11 2414.5BDNF, CHAT, NTRK1, NGF, TH
46retinoic acid45 2411.3BDNF, CHAT, NTRK1, MAP2, DNMT1, NGF
47ag 8794510.3NTRK1, NGF
48pd 98,0594510.3NGF, DNMT1, NTRK1, CHAT, BDNF
49oligonucleotide4510.3MECP2, CHAT, NTRK1, DNMT1, OTC, MBD4
50phosphoinositide4510.0NGF, MAP2, NTRK1, CHAT, BDNF

GO Terms for genes affiliated with Rett Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Rett Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synaptic vesicleGO:00802110.4TH, SYN1, BDNF

Biological processes related to Rett Syndrome according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1response to electrical stimulusGO:05160210.6TH, NGF, NTRK1
2response to radiationGO:00931410.6MBD4, NTRK1, NGF
3dendrite developmentGO:01635810.6CHAT, MECP2, BDNF
4negative regulation of neuron apoptotic processGO:04352410.5NGF, NTRK1, MECP2, BDNF
5cellular response to nicotineGO:07131610.5NTRK1, TH
6mechanoreceptor differentiationGO:04249010.5NTRK1, BDNF
7inner ear morphogenesisGO:04247210.5DLX5, DLX6, FOXG1
8anatomical structure formation involved in morphogenesisGO:04864610.4DLX6, DLX5
9central nervous system neuron developmentGO:02195410.4MAP2, FOXG1
10response to nutrient levelsGO:03166710.3TH, NTRK1
11neurotransmitter biosynthetic processGO:04213610.1TH, CHAT

Molecular functions related to Rett Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1methyl-CpG bindingGO:00832710.4DNMT1, MECP2

Products for genes affiliated with Rett Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Rett Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet