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MODY syndrome
11 OMIM references -
12 associated genes
167 connected diseases
No signs/symptoms info
Disease Type of connection
Permanent neonatal diabetes mellitus
Transient neonatal diabetes mellitus
Hyperinsulinism due to HNF1A deficiency
Hyperinsulinism due to HNF4A deficiency
Hyperinsulinism due to glucokinase deficiency
Partial pancreatic agenesis
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Autosomal recessive hyperinsulinism due to SUR1 deficiency
DEND syndrome
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Precursor B-cell acute lymphoblastic leukemia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Distal 22q11.2 microdeletion syndrome
Hepatocellular carcinoma, childhood-onset
Autosomal agammaglobulinemia
Autosomal dominant nonsyndromic intellectual deficit
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
B-cell chronic lymphocytic leukemia
Dehydratase deficiency
Giant cell glioblastoma
Gliosarcoma
Familial pancreatic carcinoma
Follicular lymphoma
Intravascular large B-cell lymphoma
Amyotrophic lateral sclerosis
Craniopharyngioma
Desmoid tumor
Pilomatrixoma
Catecholaminergic polymorphic ventricular tachycardia
Familial retinal arterial macroaneurysm
Single ventricular septal defect
Tetralogy of Fallot
Familial atrial fibrillation
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Huntington disease
Juvenile Huntington disease
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Pulverulent cataract
Chronic myeloid leukemia
Precursor T-cell acute lymphoblastic leukemia
Alveolar rhabdomyosarcoma
Adrenocortical carcinoma
Angelman syndrome
Essential thrombocythemia
Li-Fraumeni syndrome
Papilloma of choroid plexus
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Hereditary breast and ovarian cancer syndrome
Multiple osteochondromas
Nijmegen breakage syndrome-like disorder
Potocki-Shaffer syndrome
17q12 microdeletion syndrome
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Autosomal dominant primary hypomagnesemia with hypocalciuria
Classic Mayer-Rokitansky-Küster-Hauser syndrome
Familial prostate cancer
MURCS association
PLCG2-associated antibody deficiency and immune dysregulation
Renal cysts and diabetes syndrome
Berardinelli-Seip congenital lipodystrophy
Autosomal dominant hyper-IgE syndrome
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Aleukemic mast cell leukemia
Autosomal recessive nonsyndromic intellectual deficit
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Cutaneous mastocytoma
Familial papillary renal cell carcinoma
Gastrointestinal stromal tumor
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
Mantle cell lymphoma
Multiple myeloma
Nodular urticaria pigmentosa
Piebaldism
Plaque-form urticaria pigmentosa
Primary mediastinal large B-cell lymphoma
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Atrial septal defect, ostium secundum type
Atrial septal defect, sinus venosus type
Situs inversus totalis
Estrogen resistance syndrome
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
17p13.3 microduplication syndrome
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
Adult-onset distal myopathy due to VCP mutation
Baraitser-Winter syndrome
Behavioral variant of frontotemporal dementia
Coffin-Siris syndrome
Congenital stromal corneal dystrophy
Dedifferentiated liposarcoma
Developmental malformations - deafness - dystonia
Distal 17p13.3 microdeletion syndrome
Familial rhabdoid tumor
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Hypocalcemic vitamin D-resistant rickets
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inflammatory myofibroblastic tumor
Miller-Dieker syndrome
Neuroblastoma
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Spinocerebellar ataxia type 1
Well-differentiated liposarcoma
Brachydactyly - elbow wrist dysplasia
Donnai-Barrow syndrome
Familial clubfoot due to 5q31 microdeletion
Familial clubfoot due to PITX1 point mutation
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Myhre syndrome
Rabson-Mendenhall syndrome
2q37 microdeletion syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Distal hereditary motor neuropathy type 2
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Spinocerebellar ataxia type 17
CLN10 disease
Acute myeloid leukemia with CEBPA somatic mutations
Cataract-microcornea syndrome
Congenital analbuminemia
Fuchs endothelial corneal dystrophy
Glycogen storage disease due to GLUT2 deficiency
Growth delay due to insulin-like growth factor I resistance
Inherited acute myeloid leukemia
Melanoma of soft part
Nuclear cataract
Pallister-Hall syndrome
Papillary or follicular thyroid carcinoma
Pitt-Hopkins syndrome
Primary sclerosing cholangitis
Severe combined immunodeficiency due to DNA-PKcs deficiency
Alpha-crystallinopathy
Familial isolated dilated cardiomyopathy
Fatal infantile hypertonic myofibrillar myopathy
Posterior polar cataract
Zonular cataract
Synonym(s):
- Maturity-onset diabetes of the young
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
11 OMIM references -
No MeSH references
No signs/symptoms info available.