Maturity-onset diabetes of the young, type 1

General Information (adopted from Orphanet):

Synonyms, Signs: HNF4A-MODY
MODY1
Mild juvenile diabetes mellitus
MODY, type 1
Number of Symptoms 9
OrphanetNr:
OMIM Id: 125850
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
23869298 [IBIS]
Age of onset: Neonatal
Infancy
Childhood
Adolescent
23869298 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Mutations in HNF‑4alpha have been reported to result in macrosomia and transient hyperinsulinemic hypoglycaemia in the neonatal period and these subjects subsequently develop an early onset diabetes mellitus (MODY1) (PMID:23869298).

Symptom Information: Sort by abundance 

1
(HPO:0001520) Large for gestational age 23878349; 23869298 IBIS 34 / 7739
2
(HPO:0000825) Hyperinsulinemic hypoglycemia 23878349; 23869298 IBIS 18 / 7739
3
(HPO:0003141) Hyperbetalipoproteinemia 23878349 IBIS 10 / 7739
4
(HPO:0003233) Hypoalphalipoproteinemia 23878349 IBIS 18 / 7739
5
(HPO:0012153) Hypotriglyceridemia 23878349 IBIS 4 / 7739
6
(HPO:0004904) Maturity-onset diabetes of the young Very frequent [IBIS] 23878349 IBIS 17 / 7739
7
(HPO:0005978) Type II diabetes mellitus Very frequent [IBIS] 23878349 IBIS 68 / 7739
8
(MedDRA:10002986) Apolipoprotein A-I decreased 23878349 IBIS 1 / 7739
9
(MedDRA:10002993) Apolipoprotein A-II decreased 23878349 IBIS 1 / 7739

Associated genes:

HNF4A;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In their review of MODY, Fajans et al. (2001) stated that, not unexpectedly, the pathophysiologic mechanisms of MODY due to mutations in HNF4A (MODY1) and MODY due to mutations in the HNF1A gene (MODY3; 142410) are very similar ...
Genotype-Phenotype Correlations OMIM Barrio et al. (2002) estimated the prevalence of major MODY subtypes in Spanish MODY families and analyzed genotype-phenotype correlations. Twenty-two unrelated pediatric MODY patients and 97 relatives were screened for mutations in the coding region of the GCK ...
Molecular genetics OMIM The R-W pedigree, which included more than 360 members spanning 6 generations and 74 members with diabetes, including those with MODY, had been studied prospectively since 1958 (Fajans, 1989). The members of this family were descendants of a ...