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Hyperinsulinism due to HNF1A deficiency
1 associated gene
50 connected diseases
No signs/symptoms info
Disease Type of connection
MODY syndrome
Dehydratase deficiency
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
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Catecholaminergic polymorphic ventricular tachycardia
17q12 microdeletion syndrome
Autosomal dominant primary hypomagnesemia with hypocalciuria
Classic Mayer-Rokitansky-Küster-Hauser syndrome
Familial prostate cancer
MURCS association
Renal cysts and diabetes syndrome
Berardinelli-Seip congenital lipodystrophy
Autosomal dominant hyper-IgE syndrome
Follicular lymphoma
Intravascular large B-cell lymphoma
Primary mediastinal large B-cell lymphoma
Familial atrial fibrillation
Single ventricular septal defect
Tetralogy of Fallot
17p13.3 microduplication syndrome
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Autosomal dominant nonsyndromic intellectual deficit
Baraitser-Winter syndrome
Behavioral variant of frontotemporal dementia
Desmoid tumor
Developmental malformations - deafness - dystonia
Distal 17p13.3 microdeletion syndrome
Familial retinal arterial macroaneurysm
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Hepatocellular carcinoma, childhood-onset
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Miller-Dieker syndrome
Progressive non-fluent aphasia
Pulverulent cataract
Semantic dementia
Spastic paraplegia - Paget disease of bone
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Chronic myeloid leukemia
Congenital analbuminemia
Distal 22q11.2 microdeletion syndrome
Hyperinsulinism due to HNF4A deficiency
Inherited acute myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
- Hyperinsulinemic hypoglycemia due to HNF1A deficiency

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references

Gene symbol UniProt reference OMIM reference
HNF1A P20823142410
No signs/symptoms info available.