ODCs

Cytoscape Web

Click node...

Marshall-Smith syndrome

1 OMIM reference -
1 associated gene
36 signs/symptoms

PROTEIN INTERACTIONS: 1

Unilateral retinoblastoma

1 associated gene
No signs/symptoms info

Marshall-Smith syndrome

Unilateral retinoblastoma

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	NFIX	(0.72)	RB1

Citations in the biomedical literature:

Marshall-Smith syndrome		Unilateral retinoblastoma
	Synonym(s): - Accelerated skeletal maturation - peculiar facies - failure to thrive		Synonym(s): - Non-familial retinoblastoma - Non-hereditary retinoblastoma

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare oncologic disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: unknown		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: sporadic

	External references: 1 OMIM reference - 1 MeSH reference: C536026		External references: No OMIM references No MeSH references

Marshall-Smith syndrome
	Very frequent - Advanced bone age - Anteverted nares / nostrils - Bowed diaphysis / diaphyses / long bones - Depressed nasal bridge - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - Hyperelastic skin / cutaneous hyperlaxity - Hyperextensible joints / articular hyperlaxity - Intellectual deficit / mental / psychomotor retardation / learning disability - Micrognathia / retrognathia / micrognathism / retrognathism - Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia - Proptosis / exophthalmos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Thin skin Frequent - Blue sclerae - Conductive deafness / hearing loss - Death in infancy - Ecchymoses - Hirsutism / hypertrichosis / Increased body hair - Hypertelorism - Laryngomalacia - Macroglossia / tongue protrusion / proeminent / hypertrophic - Mouth held open - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Scoliosis - Short / small nose - Stillbirth / neonatal death Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Choanal atresia - Congenital cardiac anomaly / malformation / cardiopathy - Craniostenosis / craniosynostosis / sutural synostosis - Dilated cerebral ventricles without hydrocephaly - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Thickened / hypertrophic / fibromatous gingivae
Unilateral retinoblastoma
(no data available)