ODCs

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Rett syndrome

1 OMIM reference -
1 associated gene
35 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

Intellectual deficit - sparse hair - brachydactyly

1 OMIM reference -
2 associated genes
37 signs/symptoms

Rett syndrome

Intellectual deficit - sparse hair - brachydactyly

MECP2	(UniProt - OMIM)		ARID1B	(UniProt - OMIM)
			SMARCA2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MECP2	(0.89)	SMARCA2

Citations in the biomedical literature:

Rett syndrome		Intellectual deficit - sparse hair - brachydactyly
	Synonym(s): (no synonyms)		Synonym(s): - Nicolaides-Baraitser syndrome

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D015518		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Metacarpal anomalies / Archibald's sign - Microcephaly - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Rett syndrome		Intellectual deficit - sparse hair - brachydactyly
	Very frequent - EEG anomalies - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Movement disorder - Psychic / behavioural troubles - Skull / cranial anomalies - 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 - Respiratory distress / dyspnea / respiratory failure / lung volume reduction 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 - Anteverted nares / nostrils - Everted lower lip - Flared / thick ala nasi - High vaulted / narrow palate - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Joint / articular deformation - Long philtrum - Macrostomia / big mouth - Philtrum flat / large / featureless / absent cupidon bows - Short hand / brachydactyly - Thin / retracted lips - Triangular face Frequent - Abnormal implantation of hair - Abnormally placed nipples - Blepharophimosis / short palpebral fissures - Eczema - High arched eyebrows - Long / thick / curved lashes / trichomegaly / polytrichia - Narrow nasal bridge - Rippled skin - Short stature / dwarfism / nanism - Terminal broadening / clubbing of toes - Terminal / third phalangeal bone of fingers broadened / deviated - Undescended / ectopic testes / cryptorchidia / unfixed testes - Wide space between 1st-2nd toes Occasional - Advanced bone age - Congenital cardiac anomaly / malformation / cardiopathy - Delayed bone age - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Epiphyseal anomaly - Herniae