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Hyperinsulinism due to HNF4A deficiency
1 associated gene
51 connected diseases
No signs/symptoms info
Disease Type of connection
MODY syndrome
Familial pancreatic carcinoma
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
Alveolar rhabdomyosarcoma
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Amyotrophic lateral sclerosis
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Hereditary breast and ovarian cancer syndrome
Multiple osteochondromas
Nijmegen breakage syndrome-like disorder
Potocki-Shaffer syndrome
Autosomal recessive nonsyndromic intellectual deficit
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Atrial septal defect, ostium secundum type
Atrial septal defect, sinus venosus type
Single ventricular septal defect
Situs inversus totalis
Tetralogy of Fallot
Estrogen resistance syndrome
Dedifferentiated liposarcoma
Dehydratase deficiency
Familial atrial fibrillation
Hypocalcemic vitamin D-resistant rickets
Well-differentiated liposarcoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Distal 22q11.2 microdeletion syndrome
2q37 microdeletion syndrome
Spinocerebellar ataxia type 17
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Hyperinsulinism due to HNF1A deficiency
Papillary or follicular thyroid carcinoma
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Synonym(s):
- Hyperinsulinemic hypoglycemia due to HNF4A deficiency
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
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
HNF4A P41235600281
No signs/symptoms info available.