ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
5 associated genes
No signs/symptoms info

Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis

Extraskeletal myxoid chondrosarcoma


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTF1A	(0.62)	TCF12

Citations in the biomedical literature:

Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis		Extraskeletal myxoid chondrosarcoma
	Synonym(s): - Pancreatic and cerebellar agenesis		Synonym(s): (no synonyms)

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

	Classification (ICD10): (no data available)		Classification (ICD10): (no data available)

	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: 1-9 / 1 000 000 Average age onset: adulthood Average age of death: adult Type of inheritance: sporadic

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

Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
	Very frequent - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Insulin-independent / type 2 diabetes - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Triangular face Frequent - Structural anomalies of the pancreas
Extraskeletal myxoid chondrosarcoma
(no data available)