Genes |
Phenotype |
GCK |
Persistent and mild fasting hyperglycaemia from birth |
HNF1A and HNF4A |
Common forms of MODY that can be treated with sulphonylureas |
KCNJ11 and ABCC8 |
Rare forms of MODY that can be treated with sulphonylureas |
HNF1B |
Renal/urogenital structural abnormalities and diabetes |
CEL |
Diabetes and exocrine dysfunction |
NEUROD1, INS, PDX1, RFX6 and APPL1 |
Rare, non-syndromic, autosomal dominant forms of MODY |
PCBD1, PLAGL1 and ZFP57 |
Rare, non-syndromic, autosomal recessive forms of MODY |
AKT2, CAV1, CIDEC, LIPE, LMNA, PLIN1 and PPARG
|
Partial lipodystrophy, dyslipidaemia and insulin resistance |
AGPAT2, BSCL2 and CAVIN1 |
Congenital generalised lipodystrophy |
INSR |
Severe insulin resistance without lipodystrophy and dyslipidaemia |
PCNT |
Severe insulin resistance and microcephalic osteodysplastic primordial dwarfism type II (MOPD2) |
WRN |
Severe insulin resistance, progeria and cataracts |
FBN1, KCNJ6, MFN2, MTX2, OTULIN, POLD1, PSMB8, ZMPSTE24 |
Lipodystrophy as part of a monogenic syndrome |
PAX6 |
Diabetes and aniridia |
MAFA |
Diabetes and insulinomatosis |
MANF |
Diabetes, hypothyroidism, hypogonadism, short stature, ID, obesity, deafness, high myopia, microcephaly and alopecia |
DUT |
Diabetes and bone marrow failure |
GATA4 and GATA6 |
Diabetes and cardiac malformations |
WFS1 and CISD2 |
Wolfram syndrome (diabetes, optic atrophy and deafness) |
PPP1R15B, TRMT10A and DUT |
Autosomal recessive juvenile-onset diabetes with microcephaly |
DCAF17 |
Woodhouse Sakati syndrome (alopecia, hypogonadism, hearing impairment, diabetes, learning disabilities and extrapyramidal manifestations) |
ZBTB20 |
Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications) |
DNAJC3 |
Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration |
DYRK1B |
Diabetes and metabolic syndrome |
PIK3R1 and PRKCE |
Diabetes and SHORT syndrome (short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay) |
SLC29A3 |
H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes) |
Mitochondrial DNA variants m.3243A>G, m.3761C>A, m.4289T>C, m.7471dup, m.7512T>C, m.8344A>G, m.8356T>C, m.8561C>G, m.8993T>C, m.9155A>G, m.9267G>C, m.11778G>A, m.12168G>A, m.12258C>A, m.12271T>C, m.12317T>C, m.13051G>A, m.14483A>G and m.14709T>C |
Mitochondrial diabetes |