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Rett syndrome
1 OMIM reference -
1 associated gene
35 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7
Atypical teratoid tumor
1 OMIM reference -
1 associated gene
16 signs/symptoms
Rett syndrome
Atypical teratoid tumor

MECP2
(UniProt - OMIM)
 SMARCB1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MECP2
(0.92)
SMARCB1


Citations in the biomedical literature:


Rett syndrome
MECP2
Atypical teratoid tumor
SMARCB1



Rett syndrome
Atypical teratoid tumor

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease
Classification (ICD10):
- Mental and behavioural disorders -
Classification (ICD10):
(no data available)
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
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: D015518
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Ataxia / incoordination / trouble of the equilibrium
- Early death / lethality
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Muscle weakness / flaccidity
- Restricted joint mobility / joint stiffness / ankylosis
- Seizures / epilepsy / absences / spasms / status epilepticus

Rett syndrome
Atypical teratoid tumor

Very frequent
- EEG anomalies
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Movement disorder
- Psychic / behavioural troubles
- Skull / cranial anomalies
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tics / stereotypias
- X-linked dominant inheritance

Frequent
- Anomalies of teeth and dentition
- Autism / autistic disoders
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dystonia / torticollis / writer's cramp / blepharospasms
- 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
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatomegaly / liver enlargement (excluding storage disease)
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Psychic / psychomotor regression / dementia / intellectual decline
- Small foot


Very frequent
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Nausea / vomiting / regurgitation / merycism / hyperemesis

Frequent
- Facial pain / cephalalgia / migraine
- Hydrocephaly
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Sleep and vigilance disorders

Occasional
- Acute palsy
- Cranial nerves palsy
- Intracranial / cerebral calcifications