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1 OMIM reference -
1 associated gene
21 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
27 signs/symptoms
Richieri Costa-Pereira syndrome
Fragile X syndrome

EIF4A3 FMR1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EIF4A3
(0.72)
FMR1



Citations in the biomedical literature:


Richieri Costa-Pereira syndrome
EIF4A3
Fragile X syndrome
FMR1



Richieri Costa-Pereira syndrome
Fragile X syndrome

Synonym(s):
- Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot
- Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot

Synonym(s):
- FRAXA syndrome
- FXS
- FraX syndrome
- Martin-Bell syndrome

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: x-linked dominant

External references:
1 OMIM reference -
1 MeSH reference: C535677
External references:
1 OMIM reference -
1 MeSH reference: D005600


COMMON
SIGNS
- Prominent / bat ears


Richieri Costa-Pereira syndrome
Fragile X syndrome

Very frequent
- Autosomal recessive inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microstomia / little mouth
- Radial club hand
- Short stature / dwarfism / nanism
- Talipes-varus / metatarsal varus
- Thumb hypoplasia / aplasia / absence

Frequent
- Anodontia / oligodontia / hypodontia
- Clinodactyly of fifth finger
- Facial cleft
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Glossoptosis
- Metacarpal anomalies / Archibald's sign
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Occasional
- High vaulted / narrow palate
- Proximally set thumb
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly


Very frequent
- Chronic / relapsing otitis
- Flat foot
- Fragile chromosome X site
- Hyperextensible joints / articular hyperlaxity
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macroorchidism / macrotestes
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- X-linked dominant inheritance

Frequent
- Frontal bossing / prominent forehead
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hyperactivity / attention deficit
- Hypotonia
- Long face
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Narrow face
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Prognathism / prognathia

Occasional
- Aortic root dilatation / dilation / aneurysm
- Autism / autistic disoders
- Auto-aggressivity / auto-mutilation
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Psychosis / schizophrenia / maniac disorder
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint