Maturity-onset diabetes of the young, type 2

General Information (adopted from Orphanet):

Synonyms, Signs: MODY2, GCK-MODY
MODY, glucokinase-related diabetes, gestational, included
MODY, type2
Number of Symptoms 9
OrphanetNr:
OMIM Id: 125851
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
23878349 [IBIS]
Age of onset: Neonatal
Infancy
Childhood
Adolescent
Adult
23878349 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Mutations in GCK result in a mild, often asymptomatic and non-progressive fasting hyperglycaemia requiring no treatment, except perhaps during pregnancy. The identification of a GCK mutation in women during pregnancy has an additional significance. If a baby does not inherit a GCK mutation from its affected mother it will be at risk of macrosomia as a result of increased insulin secretion and insulin-mediated foetal growth secondary to maternal hyperglycaemia. If a baby inherits an inactivating GCK heterozygous mutation from the father the birth weight is reduced by approximately 500 g as a result of reduced foetal insulin (PMID:23878349). Hyperglycaemia due to glucokinase deficiency is often mild (fewer than 50 % of subjects have overt diabetes) and is evident during the early years of life. Despite the long duration of hyperglycaemia, glucokinase-deficient subjects have a low prevalence of micro- and macro-vascular complications of diabetes. Obesity, arterial hypertension and dyslipidaemia are also uncommon in this form of NIDDM (non-insulin-dependent diabetes mellitus) (PMID:9049484).

Symptom Information: Sort by abundance 

1
 (HPO:0000488) Retinopathy Rare [IBIS] 9049484 IBIS 75 / 7739
2
 (HPO:0001513) Obesity Occasional [IBIS] 9049484 IBIS 172 / 7739
3
 (HPO:0003074) Hyperglycemia Frequent [IBIS] 9049484; 23878349 IBIS 37 / 7739
4
 (HPO:0000822) Hypertension Occasional [IBIS] 9049484 IBIS 224 / 7739
5
 (HPO:0003119) Abnormality of lipid metabolism Rare [IBIS] 9049484 IBIS 60 / 7739
6
 (HPO:0009830) Peripheral neuropathy Rare [IBIS] 9049484 IBIS 206 / 7739
7
 (HPO:0000093) Proteinuria Rare [IBIS] 9049484 IBIS 169 / 7739
8
 (HPO:0004904) Maturity-onset diabetes of the young Frequent [IBIS] 23878349; 24804978; 9049484 IBIS 17 / 7739
9
 (HPO:0005978) Type II diabetes mellitus Frequent [IBIS] 23878349; 24804978; 9049484 IBIS 68 / 7739

Associated genes:

GCK;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) MODY is a form of NIDDM (125853) characterized by monogenic autosomal dominant transmission and early age of onset. For a phenotypic description and discussion of genetic heterogeneity of MODY, see 606391.

In a review of the ...
Molecular genetics OMIM In affected members of a French family with MODY mapping to chromosome 7, previously studied by Froguel et al. (1992), Vionnet et al. (1992) identified a point mutation in the GCK gene (138079.0001).

Hattersley et al. ...