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encyclopedia of Rare Disease Annotation for Precision Medicine



   maturity-onset diabetes of the young
  

Disease ID 851
Disease maturity-onset diabetes of the young
Definition
A rare autosomal dominant form of diabetes mellitus affecting young people with a positive family history. MODY is a form of monogenic diabetes, resulting from mutations in a single gene. The most common forms are HNF1alpha-MODY (MODY3) and GCK-MODY (MODY2), due to mutations in the HNF1A and GCK genes, respectively.
Synonym
autosomal dominant diabetes mellitus
diabetes maturity onset young
diabetes maturity onset youth
diabetes mellitus autosomal dominant
diabetes mellitus autosomal dominant (disorder)
diabetes, maturity-onset, of the young (mody)
mason-type diabetes
maturity onset diabetes in youth
maturity onset diabetes in youth type 1
maturity onset diabetes mellitus in young
maturity onset diabetes mellitus in young (disorder)
maturity onset diabetes of the young
maturity-onset diabetes of the young (disorder)
modi
mody - maturity onset diabetes in youth type 1
mody - maturity onset diabetes in youth type i
niddy
Orphanet
OMIM
DOID
UMLS
C0342276
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:12)
C0342276  |  maturity-onset diabetes of the young  |  90
C0011860  |  maturity-onset diabetes  |  90
C0011860  |  maturity onset diabetes  |  66
C0011847  |  diabetes  |  6
C0206669  |  hepatocellular adenoma  |  1
C0020456  |  hyperglycemia  |  1
C0020598  |  hypoglycemia  |  1
C0023801  |  lipomatosis  |  1
C0024299  |  lymphoma  |  1
C0020598  |  hypoglycaemia  |  1
C0149521  |  chronic pancreatitis  |  1
C0011860  |  type 2 diabetes  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
2645  |  GCK  |  CTD_human
3172  |  HNF4A  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:2)
3172  |  HNF4A  |  CIPHER;CTD_human
2645  |  GCK  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:62)
6833  |  ABCC8  |  4  |  DISEASES
100  |  ADA  |  1.337  |  DISEASES
55937  |  APOM  |  2.506  |  DISEASES
116985  |  ARAP1  |  1.705  |  DISEASES
434  |  ASIP  |  1.417  |  DISEASES
90427  |  BMF  |  2.079  |  DISEASES
11132  |  CAPN10  |  3.419  |  DISEASES
8573  |  CASK  |  1.002  |  DISEASES
30850  |  CDR2L  |  2.066  |  DISEASES
1056  |  CEL  |  4.714  |  DISEASES
1192  |  CLIC1  |  1.045  |  DISEASES
51167  |  CYB5R4  |  1.886  |  DISEASES
1606  |  DGKA  |  1.635  |  DISEASES
1803  |  DPP4  |  1.16  |  DISEASES
1810  |  DR1  |  1.653  |  DISEASES
5167  |  ENPP1  |  1.102  |  DISEASES
2305  |  FOXM1  |  4.109  |  DISEASES
57818  |  G6PC2  |  1.712  |  DISEASES
2641  |  GCG  |  2.977  |  DISEASES
2642  |  GCGR  |  1.858  |  DISEASES
2695  |  GIP  |  1.176  |  DISEASES
169792  |  GLIS3  |  2.343  |  DISEASES
2740  |  GLP1R  |  1.442  |  DISEASES
3166  |  HMX1  |  3.507  |  DISEASES
3174  |  HNF4G  |  2.528  |  DISEASES
112817  |  HOGA1  |  1.485  |  DISEASES
3767  |  KCNJ11  |  4.299  |  DISEASES
3898  |  LAD1  |  3.417  |  DISEASES
4094  |  MAF  |  1.329  |  DISEASES
143098  |  MPP7  |  2.64  |  DISEASES
4821  |  NKX2-2  |  2.216  |  DISEASES
84504  |  NKX6-2  |  1.877  |  DISEASES
7026  |  NR2F2  |  1.681  |  DISEASES
5078  |  PAX4  |  4.226  |  DISEASES
5080  |  PAX6  |  1.045  |  DISEASES
3651  |  PDX1  |  6.28  |  DISEASES
5207  |  PFKFB1  |  1.873  |  DISEASES
5208  |  PFKFB2  |  1.585  |  DISEASES
5314  |  PKHD1  |  1.153  |  DISEASES
5715  |  PSMD9  |  3.44  |  DISEASES
256297  |  PTF1A  |  1.108  |  DISEASES
222546  |  RFX6  |  2.456  |  DISEASES
9045  |  RPL14  |  1.846  |  DISEASES
6400  |  SEL1L  |  1.17  |  DISEASES
83733  |  SLC25A18  |  1.1  |  DISEASES
6514  |  SLC2A2  |  3.349  |  DISEASES
55532  |  SLC30A10  |  2.171  |  DISEASES
169026  |  SLC30A8  |  2.469  |  DISEASES
6524  |  SLC5A2  |  1.32  |  DISEASES
23557  |  SNAPIN  |  2.471  |  DISEASES
9580  |  SOX13  |  1.282  |  DISEASES
6815  |  STYX  |  1.709  |  DISEASES
143425  |  SYT9  |  3.121  |  DISEASES
6878  |  TAF6  |  2.735  |  DISEASES
6934  |  TCF7L2  |  2.716  |  DISEASES
57393  |  TMEM27  |  3.622  |  DISEASES
757  |  TMEM50B  |  2.451  |  DISEASES
8718  |  TNFRSF25  |  1.258  |  DISEASES
114131  |  UCN3  |  1.071  |  DISEASES
7360  |  UGP2  |  1.297  |  DISEASES
677  |  ZFP36L1  |  1.677  |  DISEASES
346171  |  ZFP57  |  1.392  |  DISEASES
Locus(Waiting for update.)
Disease ID 851
Disease maturity-onset diabetes of the young
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:7)
Disease ID 851
Disease maturity-onset diabetes of the young
Manually Symptom
UMLS  | Name(Total Manually Symptoms:5)
C1442864  |  diabetic nephropathy
C0154830  |  proliferative diabetic retinopathy
C0020615  |  hypoglycemia
C0020456  |  hyperglycemia
C0011849  |  diabetes mellitus
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0020598  |  hypoglycemia  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:11)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs104894008226110632645GCKumls:C0342276BeFreeWe identified three probands with a phenotype consistent with maturity-onset diabetes of the young (MODY) subtype GCK-MODY, in whom two potential pathogenic mutations were identified: [R43H/G68D], [E248 K/I225M], or [G261R/D217N].0.1542016762012GCK;LOC105375258744147732CT
rs104894011232952872645GCKumls:C0342276BeFreeWe describe the clinical follow-up of two cases of MODY2 with two different mutations in GCK gene, one in exon 7, p.Glu265Lys (c.793 G> A), which has been previously described, and a novel one, in exon 2, p.Ser69Stop (c. 206C> G).0.1542016762012GCK;LOC105375258744147720CA
rs1169288150317726927HNF1Aumls:C0342276BeFreeA new mutation in the hepatocyte nuclear factor-1-alpha gene (P224S) in a newly discovered German family with maturity-onset diabetes of the young 3 (MODY 3). Family members carry additionally the homozygous I27L amino acid polymorphism in the HNF1 alpha gene.0.029044282004HNF1A12120978847AC
rs1428275092206558123178PASKumls:C0342276BeFreeWe identified two rare nonsynonymous mutations in the PASK gene (p.L1051V and p.G1117E), each of which was found in a single MODY family.0.0002714422011PASK;LOC1053739722241112423CT
rs1467205432206558123178PASKumls:C0342276BeFreeWe identified two rare nonsynonymous mutations in the PASK gene (p.L1051V and p.G1117E), each of which was found in a single MODY family.0.0002714422011PASK2241115335AC
rs147065275226110632645GCKumls:C0342276BeFreeWe identified three probands with a phenotype consistent with maturity-onset diabetes of the young (MODY) subtype GCK-MODY, in whom two potential pathogenic mutations were identified: [R43H/G68D], [E248 K/I225M], or [G261R/D217N].0.1542016762012GCK;LOC105375258744149790CT
rs193922317106949202645GCKumls:C0342276BeFreeThree novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online.0.1542016761998GCK;LOC105375258744149778CT
rs193922600150317726927HNF1Aumls:C0342276BeFreeA new mutation in the hepatocyte nuclear factor-1-alpha gene (P224S) in a newly discovered German family with maturity-onset diabetes of the young 3 (MODY 3). Family members carry additionally the homozygous I27L amino acid polymorphism in the HNF1 alpha gene.0.029044282004HNF1A12120993663CT
rs2233580225213165078PAX4umls:C0342276BeFreeDefective PAX4 R192H transcriptional repressor activities associated with maturity onset diabetes of the young and early onset-age of type 2 diabetes.0.0013572092012PAX47127613496CT
rs367969710226110632645GCKumls:C0342276BeFreeWe identified three probands with a phenotype consistent with maturity-onset diabetes of the young (MODY) subtype GCK-MODY, in whom two potential pathogenic mutations were identified: [R43H/G68D], [E248 K/I225M], or [G261R/D217N].0.1542016762012MAP4K21164800811CT
rs373418736226110632645GCKumls:C0342276BeFreeWe identified three probands with a phenotype consistent with maturity-onset diabetes of the young (MODY) subtype GCK-MODY, in whom two potential pathogenic mutations were identified: [R43H/G68D], [E248 K/I225M], or [G261R/D217N].0.1542016762012GCK744153306CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 851
Disease maturity-onset diabetes of the young
Case(Waiting for update.)