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Hyperinsulinism due to HNF4A deficiency

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Kennedy disease

1 OMIM reference -
1 associated gene
12 signs/symptoms

Hyperinsulinism due to HNF4A deficiency

Kennedy disease

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HNF4A	(0.55)	AR

Citations in the biomedical literature:

Hyperinsulinism due to HNF4A deficiency		Kennedy disease
	Synonym(s): - Hyperinsulinemic hypoglycemia due to HNF4A deficiency		Synonym(s): - Bulbospinal muscular atrophy - SBMA - Spinal and bulbar muscular atrophy - Spinobulbar muscular atrophy - X-linked bulbospinal amyotrophy

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: normal Type of inheritance: x-linked recessive

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - No MeSH references

Kennedy disease
	Very frequent - Abnormal gait - Areflexia / hyporeflexia - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Hypotonia - Impotence / painful erection / priapism / erection troubles - Movement disorder - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - X-linked recessive inheritance Occasional - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin-independent / type 2 diabetes - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
Hyperinsulinism due to HNF4A deficiency
(no data available)