ODCs

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2 OMIM references -
2 associated genes
5 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Partial pancreatic agenesis

Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis

PDX1	(UniProt - OMIM)		PTF1A	(UniProt - OMIM)
PTF1A	(UniProt - OMIM)

Citations in the biomedical literature:

Partial pancreatic agenesis		Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
	Synonym(s): - Congenital pancreatic agenesis - Partial agenesis of the pancreas		Synonym(s): - Pancreatic and cerebellar agenesis

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Structural anomalies of the pancreas

Partial pancreatic agenesis		Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
	Very frequent - Failure to thrive / difficulties for feeding in infancy / growth delay - Insulin-dependent / type 1 diabetes - Intrauterine growth retardation - Maternal diabetes		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