Pancreatic agenesis, congenital

General Information (adopted from Orphanet):

Synonyms, Signs: PAGEN
Pancreatic hypoplasia, congenital
Number of Symptoms 6
OrphanetNr:
OMIM Id: 260370
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000857) Neonatal insulin-dependent diabetes mellitus 8988180; 12970316 IBIS 7 / 7739
2
(HPO:0001738) Exocrine pancreatic insufficiency 12970316 IBIS 23 / 7739
3
(HPO:0100800) Aplasia/Hypoplasia of the pancreas 12970316 IBIS 8 / 7739
4
(HPO:0001511) Intrauterine growth retardation 12970316 IBIS 358 / 7739
5
(HPO:0001508) Failure to thrive 12970316 IBIS 454 / 7739
6
(OMIM) Serum C-peptide and glucagon levels measurable 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Winter et al. (1986) reported a syndrome of endocrine and exocrine pancreatic insufficiency in 2 brothers who were 'small for dates' at birth and had neonatal-onset insulin-dependent diabetes mellitus. In contrast to cases with absence of the islets ...
Molecular genetics OMIM In a Caucasian female infant who presented with neonatal diabetes mellitus at birth and pancreatic exocrine insufficiency at 18 days of life, originally reported by Wright et al. (1993), Stoffers et al. (1997) identified homozygosity for a 1-bp ...