MODY1
MCID: MTR018
MIFTS: 27

Maturity-Onset Diabetes of the Young, Type 1 (MODY1)

Categories: Genetic diseases, Rare diseases, Liver diseases, Endocrine diseases, Neuronal diseases

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 1

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 1:

Name: Maturity-Onset Diabetes of the Young, Type 1 57 53 29 6 38 73
Mody1 57 12 53 75
Mild Juvenile Diabetes Mellitus 57 12 75
Mody Type 1 12 53 75
Mody, Type I 57 13
Diabetes of the Young, Maturity-Onset, Type 1 40
Maturity-Onset Diabetes of the Young Type 1 12
Type 1 Maturity-Onset Diabetes of the Young 53
Maturity-Onset Diabetes of the Young 1 75
Diabetes Mellitus Mody Type 1 53
Mody Hnf4a Related 53
Mody, Type 1 57
Mody-1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (20q12-q13.1)


HPO:

32
maturity-onset diabetes of the young, type 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 125850
Disease Ontology 12 DOID:0111099
MedGen 42 C1852093
MeSH 44 D003924
SNOMED-CT via HPO 69 263681008 609561005
UMLS 73 C1852093

Summaries for Maturity-Onset Diabetes of the Young, Type 1

UniProtKB/Swiss-Prot : 75 Maturity-onset diabetes of the young 1: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.

MalaCards based summary : Maturity-Onset Diabetes of the Young, Type 1, also known as mody1, is related to maturity-onset diabetes of the young and hyperinsulinism due to hnf4a deficiency. An important gene associated with Maturity-Onset Diabetes of the Young, Type 1 is HNF4A (Hepatocyte Nuclear Factor 4 Alpha). The drugs Gliclazide and Antibodies have been mentioned in the context of this disorder. Related phenotype is maturity-onset diabetes of the young.

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in mutation in the HNF4A gene on chromosome 20.

Description from OMIM: 125850

Related Diseases for Maturity-Onset Diabetes of the Young, Type 1

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 1

Symptoms via clinical synopsis from OMIM:

57
Endo:
diabetes mellitus

Misc:
early onset, mild and relatively uncomplicated course
chlorpropamide-alcohol flushing may be a marker for this form


Clinical features from OMIM:

125850

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 1:

32
# Description HPO Frequency HPO Source Accession
1 maturity-onset diabetes of the young 32 HP:0004904

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 1

Drugs for Maturity-Onset Diabetes of the Young, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gliclazide Approved Not Applicable 21187-98-4 3475
2 Antibodies
3 Immunoglobulins
4 insulin
5 Insulin, Globin Zinc
6 Gastrointestinal Agents Not Applicable
7 glucagon Not Applicable
8 Glucagon-Like Peptide 1 Not Applicable
9 Hormone Antagonists Not Applicable
10 Hormones Not Applicable
11 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
12 Hypoglycemic Agents Not Applicable
13 Incretins Not Applicable
14 Tin Fluorides Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Predisposition Genes in Monogenic Diabetes (DIAMONO) Completed NCT02634229
2 Glucagon in MODY (Maturity Onset Diabetes of the Young) Recruiting NCT03246828 Not Applicable

Search NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 1

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 1

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 1:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 1 29 HNF4A

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 1

Publications for Maturity-Onset Diabetes of the Young, Type 1

Articles related to Maturity-Onset Diabetes of the Young, Type 1:

# Title Authors Year
1
Efficacy and safety of alogliptin in a pediatric patient with maturity-onset diabetes of the young type 1. ( 28804210 )
2017
2
Detection and characterization of two novel mutations in the HNF4A gene in maturity-onset diabetes of the young type 1 in two Japanese families. ( 23652628 )
2013
3
Maturity-onset diabetes of the young Type 1 (MODY1)-associated mutations R154X and E276Q in hepatocyte nuclear factor 4alpha (HNF4alpha) gene impair recruitment of p300, a key transcriptional co-activator. ( 11435618 )
2001
4
Functional properties of the R154X HNF-4alpha protein generated by a mutation associated with maturity-onset diabetes of the young, type 1. ( 10940385 )
2000

Variations for Maturity-Onset Diabetes of the Young, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 1:

75
# Symbol AA change Variation ID SNP ID
1 HNF4A p.Arg136Trp VAR_004668 rs137853336
2 HNF4A p.Glu285Gln VAR_010601
3 HNF4A p.Met373Arg VAR_071952 rs137853338

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 1:

6
(show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 HNF4A NM_000457.4(HNF4A): c.829C> T (p.Gln277Ter) single nucleotide variant Pathogenic rs137853334 GRCh37 Chromosome 20, 43048453: 43048453
2 HNF4A NM_000457.4(HNF4A): c.829C> T (p.Gln277Ter) single nucleotide variant Pathogenic rs137853334 GRCh38 Chromosome 20, 44419813: 44419813
3 HNF4A NM_000457.4(HNF4A): c.487C> T (p.Arg163Ter) single nucleotide variant Pathogenic rs137853335 GRCh37 Chromosome 20, 43042435: 43042435
4 HNF4A NM_000457.4(HNF4A): c.487C> T (p.Arg163Ter) single nucleotide variant Pathogenic rs137853335 GRCh38 Chromosome 20, 44413795: 44413795
5 HNF4A HNF4A, 1-BP DEL, PHE75T deletion Pathogenic
6 HNF4A HNF4A, IVS5, DEL A, -2 deletion Pathogenic
7 HNF4A NM_000457.4(HNF4A): c.1118T> G (p.Met373Arg) single nucleotide variant Pathogenic rs137853338 GRCh37 Chromosome 20, 43052883: 43052883
8 HNF4A NM_000457.4(HNF4A): c.1118T> G (p.Met373Arg) single nucleotide variant Pathogenic rs137853338 GRCh38 Chromosome 20, 44424243: 44424243
9 HNF4A NM_000457.4(HNF4A): c.1163C> G (p.Pro388Arg) single nucleotide variant Likely pathogenic rs193922469 GRCh37 Chromosome 20, 43057008: 43057008
10 HNF4A NM_000457.4(HNF4A): c.1163C> G (p.Pro388Arg) single nucleotide variant Likely pathogenic rs193922469 GRCh38 Chromosome 20, 44428368: 44428368
11 HNF4A NM_000457.4(HNF4A): c.1253G> C (p.Cys418Ser) single nucleotide variant Likely pathogenic rs193922470 GRCh37 Chromosome 20, 43057098: 43057098
12 HNF4A NM_000457.4(HNF4A): c.1253G> C (p.Cys418Ser) single nucleotide variant Likely pathogenic rs193922470 GRCh38 Chromosome 20, 44428458: 44428458
13 HNF4A NM_000457.4(HNF4A): c.347_348delGGinsC (p.Arg116Thrfs) indel Likely pathogenic rs193922471 GRCh37 Chromosome 20, 43036077: 43036078
14 HNF4A NM_000457.4(HNF4A): c.347_348delGGinsC (p.Arg116Thrfs) indel Likely pathogenic rs193922471 GRCh38 Chromosome 20, 44407437: 44407438
15 HNF4A NM_000457.4(HNF4A): c.619G> C (p.Ala207Pro) single nucleotide variant Likely pathogenic rs193922474 GRCh37 Chromosome 20, 43043273: 43043273
16 HNF4A NM_000457.4(HNF4A): c.619G> C (p.Ala207Pro) single nucleotide variant Likely pathogenic rs193922474 GRCh38 Chromosome 20, 44414633: 44414633
17 HNF4A NM_000457.4(HNF4A): c.641_648+10del18 deletion Likely pathogenic rs193922475 GRCh37 Chromosome 20, 43043295: 43043312
18 HNF4A NM_000457.4(HNF4A): c.641_648+10del18 deletion Likely pathogenic rs193922475 GRCh38 Chromosome 20, 44414655: 44414672
19 HNF4A NM_000457.4(HNF4A): c.726_728delGCTinsTCAA (p.Leu243Glnfs) indel Likely pathogenic rs193922476 GRCh37 Chromosome 20, 43047142: 43047144
20 HNF4A NM_000457.4(HNF4A): c.726_728delGCTinsTCAA (p.Leu243Glnfs) indel Likely pathogenic rs193922476 GRCh38 Chromosome 20, 44418502: 44418504
21 HNF4A NM_000457.4(HNF4A): c.834G> C (p.Glu278Asp) single nucleotide variant Likely pathogenic rs193922477 GRCh37 Chromosome 20, 43048458: 43048458
22 HNF4A NM_000457.4(HNF4A): c.834G> C (p.Glu278Asp) single nucleotide variant Likely pathogenic rs193922477 GRCh38 Chromosome 20, 44419818: 44419818
23 HNF4A HNF4A deletion deletion Likely pathogenic
24 HNF4A NM_175914.4(HNF4A): c.640T> A (p.Ser214Thr) single nucleotide variant Likely pathogenic rs1060499693 GRCh37 Chromosome 20, 43047122: 43047122
25 HNF4A NM_175914.4(HNF4A): c.640T> A (p.Ser214Thr) single nucleotide variant Likely pathogenic rs1060499693 GRCh38 Chromosome 20, 44418482: 44418482
26 HNF4A NM_175914.4(HNF4A): c.224G> A (p.Arg75Lys) single nucleotide variant Uncertain significance rs1131692187 GRCh38 Chromosome 20, 44406232: 44406232
27 HNF4A NM_175914.4(HNF4A): c.224G> A (p.Arg75Lys) single nucleotide variant Uncertain significance rs1131692187 GRCh37 Chromosome 20, 43034872: 43034872
28 HNF4A NM_175914.4(HNF4A): c.473_475delAGA (p.Lys158del) deletion Likely pathogenic GRCh38 Chromosome 20, 44414553: 44414555
29 HNF4A NM_175914.4(HNF4A): c.473_475delAGA (p.Lys158del) deletion Likely pathogenic GRCh37 Chromosome 20, 43043193: 43043195
30 HNF4A NM_175914.4(HNF4A): c.740T> C (p.Leu247Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 20, 43048430: 43048430
31 HNF4A NM_175914.4(HNF4A): c.740T> C (p.Leu247Pro) single nucleotide variant Likely pathogenic GRCh38 Chromosome 20, 44419790: 44419790
32 HNF4A NM_000457.4(HNF4A): c.829C> G (p.Gln277Glu) single nucleotide variant Uncertain significance rs137853334 GRCh38 Chromosome 20, 44419813: 44419813
33 HNF4A NM_000457.4(HNF4A): c.829C> G (p.Gln277Glu) single nucleotide variant Uncertain significance rs137853334 GRCh37 Chromosome 20, 43048453: 43048453

Expression for Maturity-Onset Diabetes of the Young, Type 1

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 1.

Pathways for Maturity-Onset Diabetes of the Young, Type 1

GO Terms for Maturity-Onset Diabetes of the Young, Type 1

Sources for Maturity-Onset Diabetes of the Young, Type 1

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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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