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Rett syndrome
1 OMIM reference -
1 associated gene
35 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8
Atypical Rett syndrome
3 OMIM references -
4 associated genes
24 signs/symptoms
Rett syndrome
Atypical Rett syndrome

MECP2
(UniProt - OMIM)
 CDKL5
(UniProt - OMIM)
FOXG1
(UniProt - OMIM)
MECP2
(UniProt - OMIM)
NTNG1
(UniProt - OMIM)

COMMON
GENES 		MECP2
INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MECP2
(0.78)
CDKL5


Citations in the biomedical literature:


Rett syndrome
MECP2
Atypical Rett syndrome
CDKL5 FOXG1 NTNG1



Rett syndrome
Atypical Rett syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Atypical RTT
- Rett syndrome variant
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic 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:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D015518
External references:
3 OMIM references -
No MeSH references
COMMON
SIGNS 		- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- EEG anomalies
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Metacarpal anomalies / Archibald's sign
- Microcephaly
- Movement disorder
- Seizures / epilepsy / absences / spasms / status epilepticus

Rett syndrome
Atypical Rett syndrome

Very frequent
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- 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
- Ataxia / incoordination / trouble of the equilibrium
- Autism / autistic disoders
- Dystonia / torticollis / writer's cramp / blepharospasms
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- 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


Very frequent
- Anomalies of ear and hearing
- Antitragus abnormal
- Camptodactyly of some fingers
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Clinodactyly of fifth finger
- Dilated cerebral ventricles without hydrocephaly
- Dysplastic / thick / grooved fingernails
- Fine hair
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hearing loss / hypoacusia / deafness
- Long philtrum
- Long / large / bulbous nose
- Macrostomia / big mouth
- Thick lips
- Thin / hypoplastic ala nasi
- Urinary / renal lithiasis / kidney stones / nephritic colic