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Rett syndrome
1 OMIM reference -
1 associated gene
35 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
Reynolds syndrome
1 OMIM reference -
1 associated gene
26 signs/symptoms
Rett syndrome
Reynolds syndrome

MECP2
(UniProt - OMIM)
 LBR
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MECP2
(0.79)
LBR


Citations in the biomedical literature:


Rett syndrome
MECP2
Reynolds syndrome
LBR



Rett syndrome
Reynolds syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Primary biliary cirrhosis and systemic scleroderma
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare hepatic disease
- Rare renal disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Mental and behavioural disorders -
Classification (ICD10):
- Diseases of the digestive system -
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: unknown
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: sporadic
External references:
1 OMIM reference -
1 MeSH reference: D015518
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Hepatomegaly / liver enlargement (excluding storage disease)
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Rett syndrome
Reynolds syndrome

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
- Scoliosis

Occasional
- 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
- 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
- Asthenia / fatigue / weakness
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Myalgia / muscular pain
- Pruritus / itching

Frequent
- Arthritis / synovitis / synovial proliferation
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cutaneous rash
- Dermal / subcutaneous infiltration / induration
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Fever / chilling
- Irregular / in bands / reticular skin hyperpigmentation
- Mouth dryness / xerostomia
- Periarticular tissue anomaly / extraarticular calcifications
- Telangiectasiae of mucosae
- Telangiectasiae of the skin
- Tight skin / lack of elasticity
- Xerophthalmia / dry eyes

Occasional
- Ascitis
- Cirrhosis
- Encephalitis
- Hepatitis / icterus / cholestasis
- Lichen