Cytoscape Web
Click node...


2 OMIM references -
2 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Partial pancreatic agenesis
Severe combined immunodeficiency due to DNA-PKcs deficiency

PDX1 PRKDC
PTF1A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PDX1
(0.52)
PRKDC



Citations in the biomedical literature:


Partial pancreatic agenesis
PDX1 PTF1A
Severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC



Partial pancreatic agenesis
Severe combined immunodeficiency due to DNA-PKcs deficiency

Synonym(s):
- Congenital pancreatic agenesis
- Partial agenesis of the pancreas

Synonym(s):
- SCID due to DNA-PKcs deficiency

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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:
(no data available)

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

Partial pancreatic agenesis

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



Severe combined immunodeficiency due to DNA-PKcs deficiency

(no data available)