Rett syndrome

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.



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Narrow down the case reports



Total: 256 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(58.5%)		 19813260
 Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33).
Kato Z, Morimoto W, Kimura T, Matsushima A, Kondo N.
Birth Defects Res A Clin Mol Teratol. 2010;88(2):132-5.
Short philtrum Abnormality of the hand
MBD1 MBD2
Basic Helix-Loop-Helix Leucine Zipper Transcriptio... Chromosome Deletion Chromosomes, Human, Pair 18 Craniofacial Abnormalities DNA-Binding Proteins Developmental Disabilities Females Genetic Association Studies Homo sapiens Intellectual Disability Oligonucleotide Array Sequence Analysis Psychomotor Disorders Rett Syndrome Syndrome Transcription Factor 4
2
(57.8%)		 22338870
 [Anesthetic management of a patient with Rett syndrome associated with trismus and apnea attacks].
Kawasaki E, Mishima Y, Ito T, Ito A, Takaseya H, Kameyama N, Fukugasako H, Ushijima K.
Masui. 2012;61(1):96-9.
Trismus Micrognathia
CD59 MECP2
Apnea Consciousness Monitors Females Gastrostomy General Anesthesia Homo sapiens Intubation, Intratracheal Laparoscopy Monitoring, Intraoperative Nissen Operation Perioperative Care Rett Syndrome Trismus
3
(46.2%)		 25899208
 Autistic and Rett-like features associated with 2q33.3-q34 interstitial deletion.
Jang DH, Chae H, Kim M.
Am J Med Genet A. 2015;167A(9):2213-8.
High palate Microcephaly Downslanted palpebral fissures
ADAM23 CREB1 KLF7 LANCL1 MAP2 MECP2 NRP2 UNC80
Autistic Disorder Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 2 Developmental Disabilities Females Homo sapiens Methyl-CpG-Binding Protein 2 Rett Syndrome
4
(44.7%)		 22611637
 A new syndrome: multiple congenital abnormalities and mental retardation in two brothers.
Dundar M, Ozdemir SY, Fryns JP.
Genet Couns. 2012;23(1):13-8.
Brachycephaly Downslanted palpebral fissures
MECP2
Child, Preschool Cryptorchidism Face Homo sapiens Infant Intellectual Disability Male Syndrome
5
(43.6%)		 17956633
(2164934)
 Rare causes of scoliosis and spine deformity: experience and particular features.
Soultanis KC, Payatakes AH, Chouliaras VT, Mandellos GC, Pyrovolou NE, Pliarchopoulou FM, Soucacos PN.
Scoliosis. 2007;2:15.
Blindness Phocomelia
6
(43.3%)		 19623215
 Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
Jacob FD, Ramaswamy V, Andersen J, Bolduc FV.
Eur J Hum Genet. 2009;17(12):1577-81.
Microcephaly Synophrys
MECP2
Child, Preschool Chromosomes, Human, Pair 14 Females Forkhead Transcription Factors Gene Deletion Homo sapiens Infant Infant, Newborn Nerve Tissue Proteins Phenotype Pregnancy Rett Syndrome
7
(41.7%)		 21387820
 [Clinical usefulness of serial EEG examinations in the diagnostic of hereditary epileptic encephalopathies case of severe epileptic encephalopathy type 2].
Terczynska I, Mierzewska H, Szczepanik E, Antczak-Marach D.
Przegl Lek. 2010;67(9):757-61.
Open mouth Microcephaly
CDKL5
Angelman Syndrome Child, Preschool Differential Diagnosis Electroencephalography Females Homo sapiens Infant Mutation Protein-Serine-Threonine Kinases Rett Syndrome West Syndrome
7
(41.7%)		 20734096
 A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
Le Guen T, Bahi-Buisson N, Nectoux J, Boddaert N, Fichou Y, Diebold B, Desguerre I, Raqbi F, Daire VC, Chelly J, Bienvenu T.
Neurogenetics. 2011;12(1):1-8.
Postnatal microcephaly Protruding tongue
FOXG1
c|DUP|256_257|C| rs786205001
Base Sequence Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 14 DNA Mutational Analysis DNA Primers Females Forkhead Transcription Factors Homo sapiens Magnetic Resonance Imaging Male Microcephaly Movement Disorders Nerve Tissue Proteins Rett Syndrome
9
(40.2%)		 24139857
 A haploinsufficiency of FOXG1 identified in a boy with congenital variant of Rett syndrome.
Kumakura A, Takahashi S, Okajima K, Hata D.
Brain Dev. 2014;36(8):725-9.
Microcephaly Round face
FOXG1 LINC01551
Child Forkhead Transcription Factors Haploinsufficiency Homo sapiens Japan Magnetic Resonance Imaging Male Microcephaly Nerve Tissue Proteins Rett Syndrome
10
(39.0%)		 29920362
 Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.
Vineeth VS, Dutta UR, Tallapaka K, Das Bhowmik A, Dalal A.
Gene. 2018;673:56-60.
Microcephaly
FOXG1 MECP2 NOVA1 PRKD1
Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 14 Developmental Disabilities Exome Females Fluorescent in Situ Hybridization Forkhead Transcription Factors Gene Expression Regulation Homo sapiens Microcephaly Nerve Tissue Proteins Neuro-Oncological Ventral Antigen Phenotype Protein Kinase C RNA-Binding Proteins Rett Syndrome Seizures Sequence Analysis, DNA Single Nucleotide Polymorphism
        

Phenotype(s) retrieved from Orphanet

    Total: 39

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000708 Behavioral abnormality Very frequent (99-80%)
HP:0000733 Stereotypy Very frequent (99-80%)
HP:0000929 Abnormal skull morphology Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0002186 Apraxia Very frequent (99-80%)
HP:0002353 EEG abnormality Very frequent (99-80%)
HP:0002357 Dysphasia Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0100022 Abnormality of movement Very frequent (99-80%)
HP:0000164 Abnormality of the dentition Frequent (79-30%)
HP:0000716 Depressivity Frequent (79-30%)
HP:0000717 Autism Frequent (79-30%)
HP:0001163 Abnormality of the metacarpal bones Frequent (79-30%)
HP:0001251 Ataxia Frequent (79-30%)
HP:0001257 Spasticity Frequent (79-30%)
HP:0001332 Dystonia Frequent (79-30%)
HP:0002093 Respiratory insufficiency Frequent (79-30%)
HP:0002120 Cerebral cortical atrophy Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0000400 Macrotia Occasional (29-5%)
HP:0001063 Acrocyanosis Occasional (29-5%)
HP:0001324 Muscle weakness Occasional (29-5%)
HP:0001387 Joint stiffness Occasional (29-5%)
HP:0001508 Failure to thrive Occasional (29-5%)
HP:0001786 Narrow foot Occasional (29-5%)
HP:0002240 Hepatomegaly Occasional (29-5%)
HP:0002308 Arnold-Chiari malformation Occasional (29-5%)
HP:0002376 Developmental regression Occasional (29-5%)
HP:0002445 Tetraplegia Occasional (29-5%)
HP:0002804 Arthrogryposis multiplex congenita Occasional (29-5%)
HP:0003199 Decreased muscle mass Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0004374 Hemiplegia/hemiparesis Occasional (29-5%)
HP:0009738 Abnormality of the antihelix Occasional (29-5%)
HP:0011675 Arrhythmia Occasional (29-5%)
HP:0012742 Thin fingernail Occasional (29-5%)
HP:0100716 Self-injurious behavior Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 72

HPO ID Term # of case reports
HP:0001250 Seizures 28
HP:0000252 Microcephaly 15
HP:0000717 Autism 13
HP:0000733 Stereotypy 9
HP:0002650 Scoliosis 9
HP:0000726 Dementia 8
HP:0000729 Autistic behavior 8
HP:0001298 Encephalopathy 8
HP:0002883 Hyperventilation 7
HP:0002376 Developmental regression 6
HP:0001249 Intellectual disability 5
HP:0001251 Ataxia 5
HP:0025356 Psychomotor retardation 4
HP:0200134 Epileptic encephalopathy 4
HP:0005484 Postnatal microcephaly 3
HP:0001257 Spasticity 2
HP:0001263 Global developmental delay 2
HP:0001332 Dystonia 2
HP:0002019 Constipation 2
HP:0002104 Apnea 2
HP:0002186 Apraxia 2
HP:0002448 Progressive encephalopathy 2
HP:0000211 Trismus 1
HP:0000253 Progressive microcephaly 1
HP:0000297 Facial hypotonia 1
HP:0000568 Microphthalmia 1
HP:0000735 Impaired social interactions 1
HP:0000739 Anxiety 1
HP:0000817 Poor eye contact 1
HP:0000819 Diabetes mellitus 1
HP:0000938 Osteopenia 1
HP:0000939 Osteoporosis 1
HP:0001290 Generalized hypotonia 1
HP:0001300 Parkinsonism 1
HP:0001688 Sinus bradycardia 1
HP:0001950 Respiratory alkalosis 1
HP:0001987 Hyperammonemia 1
HP:0002020 Gastroesophageal reflux 1
HP:0002059 Cerebral atrophy 1
HP:0002076 Migraine 1
HP:0002097 Emphysema 1
HP:0002131 Episodic ataxia 1
HP:0002313 Spastic paraparesis 1
HP:0002353 EEG abnormality 1
HP:0002360 Sleep disturbance 1
HP:0002361 Psychomotor deterioration 1
HP:0002371 Loss of speech 1
HP:0002463 Language impairment 1
HP:0002575 Tracheoesophageal fistula 1
HP:0002943 Thoracic scoliosis 1
HP:0002944 Thoracolumbar scoliosis 1
HP:0002999 Patellar dislocation 1
HP:0003270 Abdominal distention 1
HP:0003763 Bruxism 1
HP:0004395 Malnutrition 1
HP:0004879 Intermittent hyperventilation 1
HP:0005976 Hyperkalemic metabolic acidosis 1
HP:0006846 Acute encephalopathy 1
HP:0007269 Spinal muscular atrophy 1
HP:0008443 Spinal deformities 1
HP:0010522 Dyslexia 1
HP:0011002 Osteopetrosis 1
HP:0011675 Arrhythmia 1
HP:0011968 Feeding difficulties 1
HP:0030147 Truncal titubation 1
HP:0031273 Shock 1
HP:0031491 Continuous spike and waves during slow sleep 1
HP:0032005 Hemidystonia 1
HP:0100021 Cerebral palsy 1
HP:0100543 Cognitive impairment 1
HP:0100660 Dyskinesia 1
HP:0100716 Self-injurious behavior 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
MECP2 methyl-CpG binding protein 2 4204