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6 OMIM references -
6 associated genes
3 signs/symptoms

PROTEIN INTERACTIONS: 1

Richieri Costa-Pereira syndrome

1 OMIM reference -
1 associated gene
21 signs/symptoms

Neuroblastoma

Richieri Costa-Pereira syndrome

ALK	(UniProt - OMIM)		EIF4A3	(UniProt - OMIM)
HACE1	(UniProt - OMIM)
LIN28B	(UniProt - OMIM)
MYCN	(UniProt - OMIM)
PHOX2B	(UniProt - OMIM)
TOP2A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LIN28B	(0.63)	EIF4A3

Citations in the biomedical literature:

Neuroblastoma		Richieri Costa-Pereira syndrome
	Synonym(s): - Neural crest tumor - Sympathoblastoma		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 neurologic disease - Rare oncologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Neoplasms -		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: child / adolescent Type of inheritance: sporadic		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: 6 OMIM references - 2 MeSH references: C536408 / D009447		External references: 1 OMIM reference - 1 MeSH reference: C535677

Neuroblastoma		Richieri Costa-Pereira syndrome
	Very frequent - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Organic acid metabolism anomalies Frequent - Autosomal dominant inheritance		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 - Prominent / bat ears - 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