The majority of type 1 diabetes mellitus (T1DM) cases are believed to arise from an inflammatory, autoimmune attack against the beta cells in the pancreas, which consequently leads to the failure of insulin-mediated blood glucose regulation in the body. T1DM signs and symptoms can come on quickly and may include increased thirst and frequent urination, fatigue, weight loss and so on. It is recognized that both genetic and environmental determinants are important in defining disease risk. The HLA class II genes are most strongly associated with T1DM. Another plausible candidate genes are INS, CTLA4 and PTPN22. The disease may be a result of variations in several susceptibility genes, with the majority only contributing weak effects.
Category
Metabolic disease; Immune system disease; Endocrine disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Diabetes mellitus
5A10 Type 1 diabetes mellitus
H00408 Type 1 diabetes mellitus
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06325 Hormone/cytokine signaling
H00408 Type 1 diabetes mellitus
Molven A, Ringdal M, Nordbo AM, Raeder H, Stoy J, Lipkind GM, Steiner DF, Philipson LH, Bergmann I, Aarskog D, Undlien DE, Joner G, Sovik O, Bell GI, Njolstad PR
Title
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
Guo D, Li M, Zhang Y, Yang P, Eckenrode S, Hopkins D, Zheng W, Purohit S, Podolsky RH, Muir A, Wang J, Dong Z, Brusko T, Atkinson M, Pozzilli P, Zeidler A, Raffel LJ, Jacob CO, Park Y, Serrano-Rios M, Larrad MT, Zhang Z, Garchon HJ, Bach JF, Rotter JI, She JX, Wang CY
Title
A functional variant of SUMO4, a new I kappa B alpha modifier, is associated with type 1 diabetes.
Vella A, Cooper JD, Lowe CE, Walker N, Nutland S, Widmer B, Jones R, Ring SM, McArdle W, Pembrey ME, Strachan DP, Dunger DB, Twells RC, Clayton DG, Todd JA
Title
Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms.
Lavrikova EY, Nikitin AG, Kuraeva TL, Peterkova VA, Tsitlidze NM, Chistiakov DA, Nosikov VV
Title
The carriage of the type 1 diabetes-associated R262W variant of human LNK correlates with increased proliferation of peripheral blood monocytes in diabetic patients.
Douroudis K, Kisand K, Nemvalts V, Rajasalu T, Uibo R
Title
Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population.
DISEASE: Maturity onset diabetes of the young (MODY)
Entry
H00410 Disease
Name
Maturity onset diabetes of the young (MODY)
Description
Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of familial diabetes mellitus characterized by autosomal dominant inheritance, early onset before 25 years of age and primary insulin secretion defects. Mutations in six genes, encoding the glucose sensor enzyme glucokinase and five transcription factors that participate in a regulatory network essential for adult beta cell function, cause most of the MODY cases.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Diabetes mellitus
5A13 Diabetes mellitus, other specified type
H00410 Maturity onset diabetes of the young (MODY)
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06325 Hormone/cytokine signaling
H00410 Maturity onset diabetes of the young (MODY)
Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj VV, Chen X, Cox NJ, Oda Y, Yano H, Le Beau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwasaki N, Hansen T, Pedersen O, Polonsky KS, Bell GI, et al.
Title
Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)
Neve B, Fernandez-Zapico ME, Ashkenazi-Katalan V, Dina C, Hamid YH, Joly E, Vaillant E, Benmezroua Y, Durand E, Bakaher N, Delannoy V, Vaxillaire M, Cook T, Dallinga-Thie GM, Jansen H, Charles MA, Clement K, Galan P, Hercberg S, Helbecque N, Charpentier G, Prentki M, Hansen T, Pedersen O, Urrutia R, Melloul D, Froguel P
Title
Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function.
Raeder H, Johansson S, Holm PI, Haldorsen IS, Mas E, Sbarra V, Nermoen I, Eide SA, Grevle L, Bjorkhaug L, Sagen JV, Aksnes L, Sovik O, Lombardo D, Molven A, Njolstad PR
Title
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.
Plengvidhya N, Kooptiwut S, Songtawee N, Doi A, Furuta H, Nishi M, Nanjo K, Tantibhedhyangkul W, Boonyasrisawat W, Yenchitsomanus PT, Doria A, Banchuin N
Title
PAX4 mutations in Thais with maturity onset diabetes of the young.
Borowiec M, Liew CW, Thompson R, Boonyasrisawat W, Hu J, Mlynarski WM, El Khattabi I, Kim SH, Marselli L, Rich SS, Krolewski AS, Bonner-Weir S, Sharma A, Sale M, Mychaleckyj JC, Kulkarni RN, Doria A
Title
Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction.
Bonnefond A, Philippe J, Durand E, Dechaume A, Huyvaert M, Montagne L, Marre M, Balkau B, Fajardy I, Vambergue A, Vatin V, Delplanque J, Le Guilcher D, De Graeve F, Lecoeur C, Sand O, Vaxillaire M, Froguel P
Title
Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
Prudente S, Jungtrakoon P, Marucci A, Ludovico O, Buranasupkajorn P, Mazza T, Hastings T, Milano T, Morini E, Mercuri L, Bailetti D, Mendonca C, Alberico F, Basile G, Romani M, Miccinilli E, Pizzuti A, Carella M, Barbetti F, Pascarella S, Marchetti P, Trischitta V, Di Paola R, Doria A
Title
Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus.
Neonatal diabetes mellitus (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient (TNDM) and permanent (PNDM). In the case of PNDM, the condition does not resolve over time. The most frequent causes of PNDM are heterozygous mutations in the KCNJ11, INS and ABCC8 genes that play a critical role in insulin secretion from pancreatic beta-cells. The responsible genes remain unknown in up to 40% of patients.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
19 Certain conditions originating in the perinatal period
Transitory endocrine or metabolic disorders specific to fetus or newborn
KB60 Transitory disorders of carbohydrate metabolism specific to fetus or newborn
H00512 Permanent neonatal diabetes mellitus
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06325 Hormone/cytokine signaling
H00512 Permanent neonatal diabetes mellitus
Stoy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI
Title
Insulin gene mutations as a cause of permanent neonatal diabetes.
Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG
Title
Defective regulatory and effector T cell functions in patients with FOXP3 mutations.
