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Fragile X syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Richieri Costa-Pereira syndrome

1 OMIM reference -
1 associated gene
21 signs/symptoms

Fragile X syndrome

Richieri Costa-Pereira syndrome

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Fragile X syndrome		Richieri Costa-Pereira syndrome
	Synonym(s): - FRAXA syndrome - FXS - FraX syndrome - Martin-Bell syndrome		Synonym(s): - Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot - Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot

	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 (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical 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: 1-5 / 10 000 Average age onset: childhood Average age of death: normal 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 recessive

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


COMMON SIGNS	- Prominent / bat ears

Fragile X syndrome		Richieri Costa-Pereira syndrome
	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		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