ODCs

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Rett syndrome

1 OMIM reference -
1 associated gene
35 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Anophthalmia/microphthalmia - esophageal atresia

1 OMIM reference -
1 associated gene
19 signs/symptoms

Rett syndrome

Anophthalmia/microphthalmia - esophageal atresia

MECP2

(UniProt - OMIM)

SOX2

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MECP2	(0.63)	SOX2

Citations in the biomedical literature:

Rett syndrome		Anophthalmia/microphthalmia - esophageal atresia
	Synonym(s): (no synonyms)		Synonym(s): - MCOPS3 - Syndromic microphthalmia type 3

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Mental and behavioural disorders -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: no data available Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability

Rett syndrome		Anophthalmia/microphthalmia - esophageal atresia
	Very frequent - EEG anomalies - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - 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 - 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 - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Autosomal dominant inheritance - Tracheo-esophageal fistula / esophageal atresia / stenosis Frequent - Abnormal vertebral size / shape - Corpus callosum / septum pellucidum total / partial agenesis - External ear anomalies - Undescended / ectopic testes / cryptorchidia / unfixed testes - Visual loss / blindness / amblyopia Occasional - Coloboma of iris - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hydrocephaly - Hypospadias / epispadias / bent penis - Micropenis / small penis / agenesis - Patent ductus arteriosus - Rib number anomalies - Sclerocornea - Ventricular septal defect / interventricular communication