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Rett syndrome
1 OMIM reference -
1 associated gene
30 connected diseases
35 signs/symptoms
Disease Type of connection
Atypical Rett syndrome
Intellectual deficit, X-linked - psychosis - macroorchidism
Severe neonatal-onset encephalopathy with microcephaly
Trisomy Xq28
X-linked non-syndromic intellectual deficit
Coffin-Siris syndrome
Familial multiple meningioma
Atypical teratoid tumor
Familial rhabdoid tumor
Neurofibromatosis type 3
Intellectual deficit - sparse hair - brachydactyly
1p36 deletion syndrome
Greenberg dysplasia
Reynolds syndrome
Shprintzen-Goldberg syndrome
Cerebellar ataxia-deafness-narcolepsy syndrome
West syndrome
Adams-Oliver syndrome
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Cornelia de Lange syndrome
Familial partial lipodystrophy associated with PPARG mutations
Giant cell glioblastoma
Gliosarcoma
Hypotrichosis - lymphedema - telangiectasia
Isolated anophthalmia - microphthalmia
Septo-optic dysplasia
Wolf-Hirschhorn syndrome
Acatalasemia
Xeroderma pigmentosum complementation group C
Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Mental and behavioural disorders -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: x-linked dominant
External references:
1 OMIM reference -
1 MeSH reference: D015518

Gene symbol UniProt reference OMIM reference
MECP2 P51608300005
Very frequent
- EEG anomalies
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Movement disorder
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- Skull / cranial anomalies
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tics / stereotypias
- X-linked dominant inheritance

Frequent
- Anomalies of teeth and dentition
- Ataxia / incoordination / trouble of the equilibrium
- Autism / autistic disoders
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dystonia / torticollis / writer's cramp / blepharospasms
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypertonia / spasticity / rigidity / stiffness
- Metacarpal anomalies / Archibald's sign
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Scoliosis

Occasional
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Arnold-Chiari anomaly
- Arthrogryposis
- Auto-aggressivity / auto-mutilation
- Cardiac rhythm disorder / arrhythmia
- Early death / lethality
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hepatomegaly / liver enlargement (excluding storage disease)
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Psychic / psychomotor regression / dementia / intellectual decline
- Restricted joint mobility / joint stiffness / ankylosis
- Small foot