Maturity-onset diabetes of the young, type 1; MODY1
GtoPdb Disease Summaries
This section gives an overview of the disease, and where available shows the following:
- Synonyms: Shows known synonyms for the disease.
- Description: Gives a basic description/definition of the disease.
- Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
- Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
- Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.
More information can be found in the help pages.
✖| Disease ID: | 594 | |
| Name: | Maturity-onset diabetes of the young, type 1; MODY1 | |
| Associated with: | 1 target | |
| Synonyms |
| Maturity-onset diabetes of the young | MODY |
| Database Links |
|
Disease Ontology:
DOID:0050524 OMIM: 125850, 606391 Orphanet: ORPHA552 |
Targets
GtoPdb Disease Summaries - Targets
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖| Hepatocyte nuclear factor-4-α | |
| Comments: | Mutations in several different human populations affecting either the DNA-binding domain (DBD) or ligand binding domain (LBD) are associated with MODY 1 (phe75fs stop at 117; lys99fs stop at 122; gly115ser; arg125trp; arg127trp; arg154stop; arg244gln; gln268stop; arg324his; val328-329ins; ivs5-2delA). There is also a report of a mutation in the IPF-1 (MODY4) site at -146 in the P2 promoter associated with MODY1. |
| References: | 1,5,8,10-12 |
| Mutations: | Hepatocyte nuclear factor-4-α is associated with 10 mutation. Click here for details  |
Ligands
GtoPdb Disease Summaries - Ligands
Click ligand name to view ligand summary page
- Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
- Immuno: Immuno icon indicates the ligand is immuno-relevant
Click the arrow in the final column to expand comments
- Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
- Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
- Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.
More information can be found in the help pages.
✖No ligand related data available for Maturity-onset diabetes of the young, type 1; MODY1
References
1. Barrio R, Bellanné-Chantelot C, Moreno JC, Morel V, Calle H, Alonso M, Mustieles C. (2002) Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. J Clin Endocrinol Metab, 87 (6): 2532-9. [PMID:12050210]
2. Furuta H, Iwasaki N, Oda N, Hinokio Y, Horikawa Y, Yamagata K, Yano N, Sugahiro J, Ogata M, Ohgawara H et al.. (1997) Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY. Diabetes, 46 (10): 1652-7. [PMID:9313765]
3. Lausen J, Thomas H, Lemm I, Bulman M, Borgschulze M, Lingott A, Hattersley AT, Ryffel GU. (2000) Naturally occurring mutations in the human HNF4alpha gene impair the function of the transcription factor to a varying degree. Nucleic Acids Res, 28 (2): 430-7. [PMID:10606640]
4. Lehto M, Bitzén PO, Isomaa B, Wipemo C, Wessman Y, Forsblom C, Tuomi T, Taskinen MR, Groop L. (1999) Mutation in the HNF-4alpha gene affects insulin secretion and triglyceride metabolism. Diabetes, 48 (2): 423-5. [PMID:10334325]
5. Monney CT, Kaltenrieder V, Cousin P, Bonny C, Schorderet DF. (2002) Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A. Hum Mutat, 20 (3): 230-1. [PMID:12203996]
6. Møller AM, Dalgaard LT, Ambye L, Hansen L, Schmitz O, Hansen T, Pedersen O. (1999) A novel Phe75fsdelT mutation in the hepatocyte nuclear factor-4alpha gene in a Danish pedigree with maturity-onset diabetes of the young. J Clin Endocrinol Metab, 84 (1): 367-9. [PMID:9920109]
7. Oxombre B, Kouach M, Moerman E, Formstecher P, Laine B. (2004) The G115S mutation associated with maturity-onset diabetes of the young impairs hepatocyte nuclear factor 4alpha activities and introduces a PKA phosphorylation site in its DNA-binding domain. Biochem J, 383 (Pt. 3): 573-80. [PMID:15233628]
8. Oxombre B, Moerman E, Eeckhoute J, Formstecher P, Laine B. (2002) Mutations in hepatocyte nuclear factor 4alpha (HNF4alpha) gene associated with diabetes result in greater loss of HNF4alpha function in pancreatic beta-cells than in nonpancreatic beta-cells and in reduced activation of the apolipoprotein CIII promoter in hepatic cells. J Mol Med, 80 (7): 423-30. [PMID:12110948]
9. Price JA, Fossey SC, Sale MM, Brewer CS, Freedman BI, Wuerth JP, Bowden DW. (2000) Analysis of the HNF4 alpha gene in Caucasian type II diabetic nephropathic patients. Diabetologia, 43 (3): 364-72. [PMID:10768098]
10. Pruhova S, Ek J, Lebl J, Sumnik Z, Saudek F, Andel M, Pedersen O, Hansen T. (2003) Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha. Diabetologia, 46 (2): 291-5. [PMID:12627330]
11. Ryffel GU. (2001) Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences. J Mol Endocrinol, 27 (1): 11-29. [PMID:11463573]
12. Thomas H, Jaschkowitz K, Bulman M, Frayling TM, Mitchell SM, Roosen S, Lingott-Frieg A, Tack CJ, Ellard S, Ryffel GU, Hattersley AT. (2001) A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. Hum Mol Genet, 10 (19): 2089-97. [PMID:11590126]
13. Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI. (1996) Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1). Nature, 384 (6608): 458-60. [PMID:8945471]
