Maturity-onset diabetes of the young, type 6

General Information (adopted from Orphanet):

Synonyms, Signs: MODY6
MODY, type 6
Number of Symptoms 8
OrphanetNr:
OMIM Id: 606394
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 families
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:

MODY6 is caused by mutations in the NEUROD1 gene (OMIM). Less than 1 % of all MODY cases are MODY6 cases (PMID:22654519).

Symptom Information: Sort by abundance 

1
 (HPO:0000488) Retinopathy 11719843; 18331410 IBIS 75 / 7739
2
 (HPO:0001513) Obesity 18331410 IBIS 172 / 7739
3
 (HPO:0009830) Peripheral neuropathy 11719843; 18331410 IBIS 206 / 7739
4
 (HPO:0006279) Beta-cell dysfunction 22654519 IBIS 5 / 7739
5
 (HPO:0000112) Nephropathy 11719843; 18331410 IBIS 92 / 7739
6
 (HPO:0004904) Maturity-onset diabetes of the young Very frequent [IBIS] 23869298; 11719843; 18331410 IBIS 17 / 7739
7
 (HPO:0005978) Type II diabetes mellitus Very frequent [IBIS] 23869298; 11719843 IBIS 68 / 7739
8
 (MedDRA:10056817) Weight normal 11719843 IBIS 2 / 7739

Associated genes:

NEUROD1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: