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Partial pancreatic agenesis
2 OMIM references -
2 associated genes
15 connected diseases
5 signs/symptoms
Disease Type of connection
MODY syndrome
Permanent neonatal diabetes mellitus
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
Precursor B-cell acute lymphoblastic leukemia
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
Inflammatory myofibroblastic tumor
Neuroblastoma
Extraskeletal myxoid chondrosarcoma
Isolated brachycephaly
Isolated plagiocephaly
Autosomal agammaglobulinemia
Glycogen storage disease due to GLUT2 deficiency
Melanoma of soft part
Severe combined immunodeficiency due to DNA-PKcs deficiency
Synonym(s):
- Congenital pancreatic agenesis
- Partial agenesis of the pancreas
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
Gene symbol UniProt reference OMIM reference
PDX1 P52945600733
PTF1A Q7RTS3607194
Very frequent
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Insulin-dependent / type 1 diabetes
- Intrauterine growth retardation
- Maternal diabetes
- Structural anomalies of the pancreas