1. Diseases
  2. MODY

MODY

Disease Export to PDF
Name:
MODY
Description:
MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.
ORPHAcode:
552
Synonyms:
Maturity-onset diabetes of the young
XREF(s):
Orphanet
ICD-10
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
Analyte(s):
ABCC8
CEL
GCK
HNF4A
KCNJ11
KLF11
NEUROD1
PDX1
HNF1A
INS
PAX4
BLK
APPL1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    GCK 99.99 1
    HNF1A 100.00 1
    HNF1B 100.00 1
    HNF4A 99.94 1
    INS 100.00 1
    ABCC8 99.99 1
    KCNJ11 100.00 1
    GLUD1 99.96 1
    HADH 99.97 1
    INSR 99.85 1
    SLC16A1 99.96 1
  • Hyperinsulinism (5 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    GCK
    ABCC8
    KCNJ11
    HNF4A
    INS
  • MODY (7 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    GCK
    HNF1A
    HNF4A
    HNF1B
    INS
    ABCC8
    KCNJ11
  • MODY - Maturity onset Diabete of the Young (21 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC8 100.00 1 no
    GCK 100.00 1 no
    HNF1A 100.00 1 no
    HNF1B 100.00 1 no
    HNF4A 100.00 1 no
    INS 100.00 1 no
    KCNJ11 100.00 1 no
    APPL1 100.00 1 no
    BLK 100.00 1 no
    CEL 100.00 1 no
    GLUD1 100.00 1 no
    HADH 100.00 1 no
    KLF11 100.00 1 no
    INSR 100.00 1 no
    NEUROD1 100.00 1 no
    PAX4 100.00 1 no
    PDHX 100.00 1 no
    SLC16A1 100.00 1 no
    SLC16A12 100.00 1 no
    SLC5A2 100.00 1 no
    ZFP57 100.00 1 no