ODCs

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1 OMIM reference -
1 associated gene
30 signs/symptoms

PROTEIN INTERACTIONS: 1

Desmoplastic small round cell tumor

2 associated genes
19 signs/symptoms

Nager syndrome

Desmoplastic small round cell tumor

SF3B4	(UniProt - OMIM)		EWSR1	(UniProt - OMIM)
			WT1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SF3B4	(0.63)	EWSR1

Citations in the biomedical literature:

Nager syndrome		Desmoplastic small round cell tumor
	Synonym(s): - Mandibulofacial dysostosis with preaxial limb anomalies - NAFD - Nager acrofacial dysostosis - Preaxial acrodysostosis		Synonym(s): - DSRCT

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare oncologic disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: - Type of inheritance: sporadic

	External references: 1 OMIM reference - 1 MeSH reference: C538184		External references: No OMIM references 1 MeSH reference: D058405

Nager syndrome		Desmoplastic small round cell tumor
	Very frequent - Autosomal dominant inheritance - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flat cheek bones / malar hypoplasia - Hearing loss / hypoacusia / deafness - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Micrognathia / retrognathia / micrognathism / retrognathism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thumb hypoplasia / aplasia / absence Frequent - Absent / decreased / thin eyebrows - Anomalies of eyelids, eyelashes and lacrimal system - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Coloboma of the eyelid - External auditory canal atresia / stenosis / agenesis - Long / large / bulbous nose - Macrostomia / big mouth - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Palate anomalies - Ptosis - Radioulnar synostosis - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Restricted joint mobility / joint stiffness / ankylosis Occasional - Agenesis / hypoplasia / aplasia of kidneys - Congenital cardiac anomaly / malformation / cardiopathy - Fingerlike / triphalangeal thumb - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Low set ears / posteriorly rotated ears - Lower limb segmental anomalies - Phocomelia		Very frequent - Acute abdominal pain / colic - Digestive neoplasm / tumor / carcinoma / cancer - Lymphadenopathy / polyadenopathies - Peritoneal diseases - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma Frequent - Hepatomegaly / liver enlargement (excluding storage disease) - Intestinal obstruction / ileus - Mediastinal / hilar adenopathies - Nausea / vomiting / regurgitation / merycism / hyperemesis - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Anaemia - Ascitis - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer - Nose / nasal sinus neoplasm / tumor / carcinoma / cancer - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer - Testis anomalies - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy