Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
10p12.2
Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615935.1.1 | Syria | Female | Yes | Yes | Diabetes mellitus; Exocrine pancreatic i... Diabetes mellitus; Exocrine pancreatic insufficiency; Pancreatic hypoplasia  | NC_000010.10:g.23508437A>G | Homozygous | Autosomal, Recessive | Weedon et al. 2014 | |
| 615935.1.2 | Syria | Female | Yes | Yes | Diabetes mellitus; Exocrine pancreatic i... Diabetes mellitus; Exocrine pancreatic insufficiency; Pancreatic hypoplasia | NC_000010.10:g.23508437A>G | Homozygous | Autosomal, Recessive | Weedon et al. 2014 | Sibling of 615935.1 |
| 615935.1.3 | Syria | Female | Yes | Yes | Diabetes mellitus; Exocrine pancreatic i... Diabetes mellitus; Exocrine pancreatic insufficiency; Pancreatic hypoplasia | NC_000010.10:g.23508437A>G | Homozygous | Autosomal, Recessive | Weedon et al. 2014 | Sibling of 615935.1.... |
| 615935.2 | Lebanon | Male | Yes | Yes | Diabetes mellitus; Exocrine pancreatic i... Diabetes mellitus; Exocrine pancreatic insufficiency; Pancreatic hypoplasia | NC_000010.10:g.23508437A>G | Homozygous | Autosomal, Recessive | Weedon et al. 2014 |
Deeb et al. (2016) found 25 cases of Neonatal Diabetes Mellitus in Abu Dhabi between the years 1985-2013. Genetic analysis of the PNDM patients revealed recessive deletion of the PTF1A enhancer in two patients.