Maturity-onset diabetes of the young, type 8, with exocrine dysfunction

General Information (adopted from Orphanet):

Synonyms, Signs: MODY8
DPED
diabetes and pancreatic exocrine dysfunction
diabetes-pancreatic exocrine dysfunction syndrome
Number of Symptoms 14
OrphanetNr:
OMIM Id: 609812
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
23869298 [IBIS]
Age of onset: Adolescent
Adult
23869298 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: MODY syndrome
 -Rare endocrine disease
 -Rare genetic disease

Comment:

MODY8 can be caused by frameshift deletions in the variable number of tandem repeats (VNTR) of the carboxyl-ester lipase gene (CEL) (OMIM).

Symptom Information: Sort by abundance 

1
 (HPO:0002574) Episodic abdominal pain 16369531 IBIS 10 / 7739
2
 (HPO:0003563) Hypobetalipoproteinemia 16369531 IBIS 9 / 7739
3
 (HPO:0002570) Steatorrhea 16369531; 23770712 IBIS 31 / 7739
4
 (HPO:0012090) Abnormality of pancreas morphology 17259390 IBIS 31 / 7739
5
 (HPO:0012094) Abnormal pancreas size 16369531 IBIS 5 / 7739
6
 (HPO:0012092) Abnormality of exocrine pancreas physiology Very frequent [IBIS] 23878349; 16369531; 23869298 IBIS 9 / 7739
7
 (HPO:0001737) Pancreatic cysts 24062244 IBIS 15 / 7739
8
 (HPO:0004904) Maturity-onset diabetes of the young Very frequent [IBIS] 23878349; 16369531; 23869298 IBIS 17 / 7739
9
 (HPO:0005978) Type II diabetes mellitus Very frequent [IBIS] 23869298 IBIS 68 / 7739
10
 (MedDRA:10071656) Faecal elastase concentration decreased 16369531; 25369532 IBIS 1 / 7739
11
 (MedDRA:10016250) Fat soluble vitamin deficiencies and disorders 16369531; 23770712 IBIS 1 / 7739
12
 (MedDRA:10058738) Vitamin E decreased 23770712 IBIS 1 / 7739
13
 (MedDRA:10056817) Weight normal 16369531 IBIS 2 / 7739
14
 (OMIM) Pancreatic lipomatosis 17259390 IBIS 2 / 7739

Associated genes:

CEL;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The pancreas serves both endocrine and exocrine functions. The endocrine cells are found in the islets of Langerhans; they synthesize insulin (176730) and other hormones, and are involved in the pathogenesis of diabetes mellitus. The exocrine cells of ...
Molecular genetics OMIM In each of 2 Norwegian families with autosomal dominant diabetes and pancreatic exocrine dysfunction, Raeder et al. (2006) identified a different single-base deletion causing a frameshift in the variable number of tandem repeats (VNTR) in the CEL gene ...